New data last added: 15 Febraury, 2008
Corrections and other changes 1 August, 2008
As far as possible, the mutations are reported according to current guidelines, though some old data still need to be re-formatted.
Please refer to the nomenclature page for a complete description of how mutations in this gene are numbered.
An anotated cDNA and protein sequence alignment using both the systematic and historical numbering of the amino acids is available for download.
The data are organised in tables representing the four major classes of
mutation. Click on one of the following to move directly to mutations of a
particular type.
Amino acid substitutions
RNA splicing mutations
Deletions, insertions, duplications, and
frameshifts
Polymorphisms
Return to the start of COL1A1.
Mutation Phenotype Reference(s)
GGC->CGC OI II Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online
c.64G>C
p.Gly22Arg
Gly13Asp OI IV/EDS Cabral et al. J Biol Chem E-pub 2005
GGC->GAC
c.572G>A
p.Gly191Asp
Gly13Ala Cervical Mayer et al. Neurology 47:552-556 1996
GGC->GCC artery
c.572G>C dissections
p.Gly191Ala
Gly16Arg OI I Lee et al. Human Mutat Mutation in Brief #894 2006 Online
GGT->CGT
c.580G>C
p.Gly194Arg
Gly19Cys Osteoporosis Nicholls et al. IV Int Conf on OI 48 1990 (abstract)
GGT->TGT OI I Lund et al. J Craniofac Genet Dev Biol 18:30-37 1998
c.589G>T
p.Gly197Cys
Gly19Arg OI IV Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online
GGT->CGT
c.589G>C
p.Gly197Arg
Gly25Val OI IV/EDS Cabral et al. J Biol Chem E-pub 2005
GGT->GTT OI IV/EDS Cabral et al. J Biol Chem E-pub 2005
c.608G>T OI III Venturi et al. Clin Genet 70:131-139 2006
g.3930G>T
p.Gly203Val
Pro27Ala Osteopaenia(?) Spotila et al. J Bone Mineral Res 9:923-932 1994
CCT->GCT Osteopaenia(?) Spotila et al. J Bone Mineral Res 9:923-932 1994
c.613C>G
p.Pro205Ala
Gly34Arg OI III/IV/EDS Cabral et al. J Biol Chem E-pub 2005
GGA->AGA
c.634G>A
p.Gly212Arg
Arg42Stop OI I Körkkö et al. Am J Hum Genet 62:98-110 1998
CGA->TGA
c.658C>T
p.Arg220X
Gly43Cys OI I Shapiro et al. J Clin Invest 89:567-573 1992
GGT->TGT
c.661G>T
p.Gly221Cys
Gly46Cys OI I Byers et al. J Med Genet 28:433-442 1991
GGT->TGT
c.670G>T
p.Gly224Cys
Gly64Asp OI ? Lee et al. Human Mutat Mutation in Brief #894 2006 Online
GGT->GAT
c.725G>A
p.Gly242Asp
Arg75Stop OI I Ries-Levavi et al. Hum Mutat Mutation in Brief #701 2004 Online
CGA->TGA OI I Venturi et al. Clin Genet 70:131-139 2006
c.757C>T
g.4856C>T
p.Arg253X
Gly76Glu OI III Cabral et al. Mol Genet Metab 72:326-335 2001
GGA->GAA OI III/EDS Cabral et al. J Biol Chem E-pub 2005
c.761G>A
p.Gly254Glu
Gly79Arg OI I Redford-Badwal et al. J Clin Invest 97:1035-1040 1996
GGA->AGA OI I Gat-Yablonski et al. Hum Genet 101:22-25 1997
c.769G>A OI IA Benušienė and Kučinskas J Appl Genet 44:95-102 2003
g.4868G>A OI IA Benušienė and Kučinskas J Appl Genet 44:95-102 2003
p.Gly257Arg OI III Benušienė and Kučinskas J Appl Genet 44:95-102 2003
OI I Ries-Levavi et al. Hum Mutat Mutation in Brief #701 2004 Online
OI IV Lee et al. Human Mutat Mutation in Brief #894 2006 Online
OI IV Venturi et al. Clin Genet 70:131-139 2006
Gly85Arg OI I Deak et al. J Biol Chem 266:21827-21832 1991
GGA->AGA
c.787G>A
p.Gly263Arg
Gly85Val OI I Valli et al. Eur J Biochem 217:77-82 1993
GGA->GTA
c.788G>T
p.Gly263Val
Gly88Glu OI III/IV/EDS Cabral et al. J Biol Chem E-pub 2005
GGA->GAA OI I Kataoka et al. Pediatr Int 49:564-569 2007
c.797G>A
p.Gly266Glu
Gly94Cys OI I Starman et al. J Clin Invest 84:1206-1214 1989
GGT->TGT
c.814G>T
p.Gly272Cys
Gly97Asp OI II Lightfoot et al. J Biol Chem 267:25521-25528 1992
GGT->GAT
c.824G>A
p.Gly275Asp
Gly109Ser OI I Kataoka et al. Pediatr Int 49:564-569 2007
GGT>AGT
c.859G>A
p.Gly199Ser
Gly121Arg OI IV Hartikka et al. Hum Mutat 24:147-154 2004
GGT->AGT
c.895G>A
p.Gly299Arg
Gly127Arg OI I Hartikka et al. Hum Mutat 24:147-154 2004
GGC->CGC
c.913G>C
p.Gly305Arg
Note: this mutation is mis-reported in Hartikka et al. (2004)
Gly127Ser OI IV Ward et al. Hum Mutat Mutation in Brief #414 2001 Online
GGC->AGC
c.913G>A
p.Gly305Ser
Gly133Arg OI IV Ward et al. Hum Mutat Mutation in Brief #414 2001 Online
GGT->AGT
c.931G>C
p.Gly311Arg
Arg134Cys EDS Classical Nuytinck et al. Am J Hum Genet 66:1398-1402 2000
CGC->TGC EDS Classical Nuytinck et al. Am J Hum Genet 66:1398-1402 2000
c.934C>T EDS Classical Malfait et al. Hum Mutat 28:387-395 2007
p.Arg312Cys
Gly142Val OI I Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online
GGT->GTT
c.959G>T
p.Gly320Val
Gly154Arg OI III Pruchno et al. Hum Genet 87:33-40 1991
GGG->AGG OI III Pruchno et al. Hum Genet 87:33-40 1991
c.994G>A OI I Zhuang et al. Am J Med Genet 61:111-116 1996
p.Gly332Arg
Gly154Ala OI III Krakow et al. Am J Hum Genet 59S:A266 1996 (abstract)
GGG->GCG
c.995G>C
p.Gly332Ala
Gly160Cys OI IV Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online
GGC->TGC
c.1012G>T
p.Gly338Cys
Gly172Arg OI III Mackay et al. Hum Mutat 3:324-326 1994
GGT->CGT
c.1048G>C
p.Gly350Arg
Gly175Cys OI III/IV Wirtz et al. Connect Tissue Res 29:1-11 1993
GGT->TGT
c.1057G>T
p.Gly353Cys
Gly175Ser OI IV Kataoka et al. Pediatr Int 49:564-569 2007
GGT->AGT
c.1057G>A
p.Gly353Ser
Gly178Cys OI I Valli et al. J Biol Chem 266:1872-1878 1991
GGT->TGT
c.1066G>T
p.Gly356Cys
Arg183Stop OI I Körkkö et al. Am J Hum Genet 62:98-110 1998
CGA->TGA OI I Benušienė and Kučinskas J Appl Genet 44:95-102 2003
c.1081C>T OI I Ries-Levavi et al. Hum Mutat Mutation in Brief #701 2004 Online
p.Arg361X
Gly205Cys OI I Byers Trends Genet 6:293-300 1990
GGC->TGC
c.1147G>T
p.Gly383Cys
Gly211Arg OI II Sztrolovics et al. Bone 15:321-328 1994
GGT->CGT
c.1165G>C
p.Gly389Arg
Gly211Cys OI III/IV(?) Wilcox et al. Am J Hum Genet 55S:A367 1994 (abstract)
GGT->TGT
c.1165G>T
p.Gly389Cys
Gly220Ala OI IV Sarafova et al. Hum Mutat 11:395-403 1998
GGT->GCT
c.1193G>C
p.Gly398Ala
Gly220Asp OI II Culbert et al. Biochem J 311:815-820 1995
GGT->GAT
c.1193G>A
p.Gly398Asp
Gly223Cys OI I Byers. Trends Genet 6:293-300 1990
GGT->TGT OI IV Cohen et al. Am J Hum Genet 59S:A253 1996 (abstract)
c.1201G>T
p.Gly401Cys
Gly226Cys OI III/IV(?) Wilcox et al. Am J Hum Genet 55S:A367 1994 (abstract)
GGT->TGT
c.1210G>T
p.Gly404Cys
Gly229Ser OI III Ward et al. Hum Mutat Mutation in Brief #414 2001 Online
GGT->AGT
c.1219G>A
p.Gly407Ser
Arg237Stop OI I Willing et al. Am J Hum Genet 59:799-809 1996
CGA->TGA OI I Redford-Badwal et al. J Clin Invest 97:1035-1040 1996
c.1243C>T OI I Ries-Levavi et al. Hum Mutat Mutation in Brief #701 2004 Online
p.Arg415X OI IV Reis et al. J Appl Genet 46:105-108 2005
Pro239Ala OI I Reis et al. J Appl Genet 46:105-108 2005
CCC->GCC
c.1249C>G
p.Pro417Ala
Gly244Cys OI II Fertala et al. Biochem J 289:195-199 1993
GGC->TGC
c.1264G>T
p.Gly422Cys
Gly247Ser OI II/III Mackay et al. Hum Mol Genet 2:1155-1160 1993
GGC->AGC
c.1273G>A
p.Gly425Ser
Gly256Val OI II Patterson et al. J Biol Chem 264:10083-10087 1989
GGT->GTT
c.1301G>T
p.Gly434Val
Arg294Stop OI I Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online
CGA->TGA
c.1414C>T
p.Arg472X
Gly298Arg OI II Byers et al. J Med Genet 28:433-442 1991
GGA->CGA
c.1426G>C
p.Gly476Arg
Gly349Cys OI IV Cohen et al. VI Int Conference on OI 1996 (abstract)
GGT->TGT OI IV Sarafova et al. Hum Mutat 11:395-403 1998
c.1579G>T
p.Gly527Cys
Gly349Ala OI I Hartikka et al. Hum Mutat 24:147-154 2004
GGT->GCT
c.1580G>C
p.Gly527Ala
Gly352Cys OI IV Cohen et al. Am J Hum Genet 59S:A253 1996 (abstract)
GGT->TGT
c.1588G>T
p.Gly530Cys
Gly352Ser OI IVB Bateman et al. Biochem J 288:131-135 1992
GGT->AGT OI IV Marini et al. J Biol Chem 268:2667-2673 1993
c.1588G>A OI III/IV Marini et al. Am J Hum Genet 53S:A1199 1993 (abstract)
p.Gly530Ser OI II Mackay et al. Hum Mol Genet 2:1155-1160 1993
Gly355Asp OI II Raghunath et al. Pediatr Res 36:441-448 1994
GGT->GAT
c.1597G>A
p.Gly533Asp
Pro377Arg OI I Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online
CCC->CGC
c.1664C>G
p.Pro555Arg
Gly382Arg OI II Cohen-Solal et al. Mol Cell Probes 10:219-225 1996
GGT->CGT
c.1678G>C
p.Gly560Arg
Gly382Ser OI IV Mackay et al. Hum Mol Genet 2:1155-1160 1993
GGT->AGT OI IV Reis et al. J Appl Genet 46:105-108 2005
c.1678G>A
p.Gly560Ser
Gly382Cys OI IV Byers Trends Genet 6:293-300 1990
GGT->TGT
c.1678G>T
p.Gly560Cys
Gly388Arg OI II Galicka et al. Acta Biochim Pol 49:443-450 2002
GGA->AGA
c.1696G>A
p.Gly566Arg
Gly391Arg OI II Bateman et al. J Biol Chem 262:7021-7027 1987
GGC->CGC
c.1705G>C
p.Gly569Arg
Arg396Cys EDS Malfait et al. Hum Mutat 28:387-395 2007
CGT->TGT
c.1720C>T
p.Arg574Cys
Gly403Arg OI II Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online
GGA->AGA
c.1741G>A
p.Gly581Arg
Gly415Cys OI III/IV Nicholls et al. J Med Genet 28:757-764 1991
GGC->TGC
c.1777G>T
p.Gly593Cys
Gly415Ser OI III/IVB Bateman et al. Biochem J 288:131-135 1992
GGC->AGC OI II/III Mottes et al. Hum Mutat 2:196-204 1993
c.1777G>A
p.Gly593Ser
Arg420Stop OI I Siegart et al. Klin Pädiatr 216:91-93 2004
CGA->TGA
c.1792C>T
p.Arg598X
Gly424Arg OI II(?) Allan Lund, personal communication
GGA->AGA
c.1804G>A
p.Gly602Arg
Gly448Cys OI II Pepin et al. Prenat Diagn 17:559-570 1997
GGT->TGT
c.1876G>T
p.Gly626Cys
Gly448Ser OI IV Pepin et al. Prenat Diagn 17:559-570 1997
GGT->AGT
c.1876G>A
p.Gly626Ser
Gly451Ser OI II Pepin et al. Prenat Diagn 17:559-570 1997
GGC->AGC
c.1885G>A
p.Gly629Ser
Gly469Ser OI I/IV Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online
GGT->AGT
c.1939G>A
p.Gly647Ser
Gly478Ser OI II Mottes et al. Hum Mutat 12:71-72 1998 Online
GGC->AGC
c.1966G>A
p.Gly656Ser
Gly481Ala OI III Benušienė and Kučinskas J Appl Genet 44:95-102 2003
GGT->GCT
c.1976G>C
p.Gly659Ala
Gln483Leu OI I Ries-Levavi et al. Hum Mutat Mutation in Brief #701 2004 Online
CAG->CTT
c.[1982A>T; 1983G>T]
p.Gln661Leu
Glu500Stop OI I Benušienė and Kučinskas J Appl Genet 44:95-102 2003
GAG->TAG
c.2032G>T
p.Glu678X
Gly505Ser OI IV Venturi et al. Clin Genet 70:131-139 2006
GGC->AGC
c.2047G>A
g.10038G>A
p.Gly683Ser
Note: this mutation is incorrectly described for patient 3 in Table 2 of Venturi et al.
Gly511Ser OI III Galicka et al. Mol Cell Biochem 248:49-56 2003
GGT->AGT
c.2065G>A
p.Gly689Ser
Arg519Stop OI I Willing et al. Am J Hum Genet 59:799-809 1996
CGA->TGA OI I Körkkö et al. Am J Hum Genet 62:98-110 1998
c.2089C>T
p.Arg697X
Gly523Cys OI IV Sarafova et al. Hum Mutat 11:395-403 1998
GGT->TGT
c.2101G>T
p.Gly701Cys
Gly526Cys OI III Starman et al. J Clin Invest 84:1206-1214 1989
GGC->TGC OI III Pepin et al. Prenat Diagn 17:559-570 1997
c.2110G>T
p.Gly704Cys
Gly526Ser OI III Ward et al. Hum Mutat Mutation in Brief #414 2001 Online
GGC->AGC
c.2110G>A
p.Gly704Ser
Gly541Ser OI III Mackay et al. Hum Mol Genet 2:1155-1160 1993
GGT->AGT
c.2155G>A
p.Gly719Ser
Gly541Asp OI II Zhuang et al. Am J Hum Genet 48:1186-1191 1991
GGT->GAT
c.2156G>A
p.Gly719Asp
Gly544Ser OI I Lee et al. Human Mutat Mutation in Brief #894 2006 Online
GGC->AGC
c.2164G>A
p.Gly722Ser
Gly550Arg OI II Wallis et al. Am J Hum Genet 46:1034-1040 1990
GGA->AGA
c.2182G>A
p.Gly728Arg
Gly556Val OI II Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online
GGT->GTT
c.2201G>T
p.Gly734Val
Gly559Cys OI I & DGI Pallos et al. Arch Oral Biol 46:459-470 2001
GGT->TGT
c.2209G>T
p.Gly737Cys
Gly559Asp OI II Cohn et al. IV Int Conf on OI 47 1990
GGT->GAT
c.2210G>A
p.Gly737Asp
Gly565Ser OI II Bateman et al. Biochem J 288:131-135 1992
GGT->AGT
c.2227G>A
p.Gly743Ser
Gly565Val OI II Mackay et al. Hum Genet 91:439-444 1993
GGT->GTT
c.2228G>T
p.Gly743Val
Gly586Val OI II Lund et al. Hum Mutat 9:431-436 1997
GGT->GTT
c.2291G>T
p.Gly764Val
Gly589Ser OI III Forlino et al. Hum Mol Genet 3:2201-2206 1994
GGC->AGC OI IV(?) Zhuang et al. Hum Mutat 7:89-99 1996
c.2299G>A OI III Lund et al. Acta Paediatr 86:711-718 1997
p.Gly767Ser OI III Ries-Levavi et al. Hum Mutat Mutation in Brief #701 2004 Online
OI III Hartikka et al. Hum Mutat 24:147-154 2004
OI III Lee et al. Human Mutat Mutation in Brief #894 2006 Online
Gly592Ser OI III Reis et al. J Appl Genet 46:105-108 2005
GGT->AGT
c.2308G>A
p.Gly770Ser
Gly595Ser OI III(?) Chamberlain et al. Science 303:1198-1201 2004
GGC->AGC
c.2317G>A
p.Gly773Ser
Gly598Ser OI II Westerhausen et al. J Biol Chem 265:13995-14000 1990
GGT->AGT
c.2326G>A
p.Gly776Ser
Gly601Ser OI III/IV Lund et al. Acta Paediatr 86:711-718 1997
GGT->AGT
c.2335G>A
p.Gly779Ser
Gly610Cys OI IV Hartikka et al. Hum Mutat 24:147-154 2004
GGC->TGC
c.2362G>T
p.Gly788Cys
Arg618His Connective Superti-Furga et al. Matrix Biol 14:385 (abst) 1994
CGT->CAT tissue
c.2387G>A weakness
p.Arg796His
Gly631Ser OI II Westerhausen et al. J Biol Chem 265:13995-14000 1990
GGC->AGC
c.2425G>A
p.Gly809Ser
Gly637Val OI II Tsuneyoshi et al. J Biol Chem 266:15608-15613 1991
GGC->GTC
c.2444G>T
p.Gly815Val
Gly643Ser OI III Lund et al. Hum Mutat 9:378-382 1997
GGT->AGT OI I Wang et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 23:192-194 2006
c.2461G>A OI ? Lee et al. Human Mutat Mutation in Brief #894 2006 Online
g.11808G>A OI III Venturi et al. Clin Genet 70:131-139 2006
p.Gly821Ser
Gln644Stop OI I Liu et al. Mol Vis 13:360-365 2007
CAA->TAA
c.2464C>T
g.11811C>T
p.Gln822X
Gly649Asp OI IIA Reis et al. J Appl Genet 46:105-108 2005
GGC->GAC
c.2480G>A
p.Gly827Asp
Gly655Asp OI II Aerts et al. Prenat Diagn 26:393-394 2006
GGT->GAT
c.2498G>A
p.Gly833Asp
Gly661Ser OI III Nuytink et al. Hum Genet 97:324-329 1996
GGC->AGC
c.2515G>A
p.Gly839Ser
Gly664Arg OI II Culbert et al. Biochem J 311:815-820 1995
GGG->CGG
c.2524G>C
p.Gly842Arg
Gly667Arg OI II Bateman et al. J Biol Chem 263:11627-11630 1988
GGA->AGA
c.2533G>A
p.Gly845Arg
Gly673Asp OI II Cohn et al. IV Int Conf on OI 47 1990
GGC->GAC
c.2552G>A
p.Gly851Asp
Gly688Cys OI III Ward et al. Hum Mutat Mutation in Brief #414 2001 Online
GGC->TGC
c.2596G>T
p.Gly866Cys
Gly688Ser OI III Horwitz et al. Nat Med 5:309-313 1999
GGC->AGC OI III Lund et al. Hum Mutat 13:503 1999 Online
c.2596G>A
p.Gly866Ser
Gly691Cys OI II Steinmann et al. Biochem J 279:747-752 1991
GGT->TGT
c.2605G>T
p.Gly869Cys
Arg704Stop OI I Hartikka et al. Hum Mutat 24:147-154 2004
CGA->TGA
c.2644C>T
p.Arg882X
Gly718Cys OI II Starman et al. J Clin Invest 84:1206-1214 1989
GGC->TGC
c.2686G>T
p.Gly896Cys
Gly748Cys OI II Vogel et al. J Biol Chem 262:14737-14744 1987
GGT->TGT
c.2776G>T
p.Gly926Cys
Gln779Stop OI I Ries-Levavi et al. Hum Mutat Mutation in Brief #701 2004 Online
CAG->TAG
c.2869C>T
p.Gln957X
Arg780Leu OI I(?) Sun et al. ASHG Conference 2006
CGT->CTT
c.2873G>T
p.Arg958Leu
Gly802Val OI II Bonaventure et al. Hum Genet 89:640-646 1992
GGT->GTT
c.2939G>T
p.Gly980Val
Gly832Ser OI IV Marini et al. J Biol Chem 264:11893-11900 1989
GGT->AGT
c.3028G>A
p.Gly1010Ser
Arg836Cys Caffey Gensure et al. J Clin Invest 115:1250-1257 2005
CGT->TGT Disease Gensure et al. J Clin Invest 115:1250-1257 2005
c.3040C>T Gensure et al. J Clin Invest 115:1250-1257 2005
p.Arg1014Cys Suphapeetiporn et al. Clin Genet 71:280-284 2007
Kamoun-Goldrat et al. Am J Med Genet A 146A:1820-1824 2008
Gly844Ser OI III Pack et al. J Biol Chem 264:19694-19699 1989
GGT->AGT
c.3064G>A
p.Gly1022Ser
Gly844Val OI II Körkkö et al. Hum Mutat 9:148-156 1997
GGT->GTT OI II Allan Lund, personal communication
c.3065G>T
p.Gly1022Val
Gly847Arg OI II Wallis et al. J Biol Chem 265:18628-18633 1990
GGA->AGA
c.3073G>A
p.Gly1025Arg
Arg848Stop OI I Ries et al. Prenat Diagn 20:876-878 2000
CGA->TGA OI I Ries-Levavi et al. Hum Mutat Mutation in Brief #701 2004 Online
c.3076C>T OI I Ries-Levavi et al. Hum Mutat Mutation in Brief #701 2004 Online
p.Arg1026X OI I Hartikka et al. Hum Mutat 24:147-154 2004
OI I Hartikka et al. Hum Mutat 24:147-154 2004
Arg858Cys OI/EDS Lund et al. Clin Genet 73:97-101 2008
CGT->TGT
c.3106C>T
p.Arg1036Cys
Gly862Ser OI IIa Virdi et al. Hum Genet 93:287-290 1994
GGC->AGC OI III Namikawa et al. Hum Genet 95: 666-670 1995
c.3118G>A OI III Zhuang et al. Hum Mutat 7:89-99 1996
p.Gly1040Ser OI III Lund et al. Hum Mutat 9:378-382 1997
OI III/IV Chamberlain et al. Science 303:1198-1201 2004
Gly868Cys OI III Pepin et al. Prenat Diagn 17:559-570 1997
GGT->TGT
c.3136G>T
p.Gly1046Cys
Gly871Ser OI III Lund et al. Hum Mutat 9:378-382 1997
GGT->AGT
c.3145G>A
p.Gly1049Ser
Gly880Ser OI IV Lund et al. Hum Mutat 9:378-382 1997
GGT->AGT OI IV Lee et al. Human Mutat Mutation in Brief #894 2006 Online
c.3172G>A
p.Gly1058Ser
Gly883Ser OI IV Lightfoot et al. J Biol Chem 269:30352-30357 1994
GGC->AGC
c.3181G>A
p.Gly1061Ser
Gly883Asp OI II Cohn et al. Am J Hum Genet 46:591-601 1990
GGC->GAC
c.3182G>A
p.Gly1061Asp
Arg888Cys OI/EDS Cabral et al. Hum Mutat 28:396-405 2007
CGT->TGT
c.3196C>T
p.Arg1006Cys
Gly898Ser OI III Lund et al. Hum Mutat 9:378-382 1997
GGT->AGT
c.3226G>A
p.Gly1076Ser
Gly901Ser OI I Mottes et al. Hum Genet 89:480-484 1992
GGC->AGC OI I Hartikka et al. Hum Mutat 24:147-154 2004
c.3235G>A OI IV Allan Lund, personal communication
p.Gly1079Ser
Gly904Cys OI II Constantinou et al. J Clin Invest 83:574-584 1989
GGC->TGC
c.3244G>T
p.Gly1082Cys
Gly910Ala OI II Valli et al. Eur J Biochem 211:415-419 1993
GGA->GCA
c.3263G>C
p.Gly1088Ala
Gly913Ser OI II Cohn et al. Matrix 10:236 (abst) 1990
GGC->AGC
c.3271G>A
p.Gly1091Ser
Arg915Cys EDS Malfait et al. Hum Mutat 28:387-395 2007
CGT->TGT
c.3277C>T
p.Arg1093Cys
Gly928Ala OI II Lamande et al. J Biol Chem 264:15809-15812 1989
GGC->GCC
c.3317G>C
p.Gly1106Ala
Gly946Cys OI II Kurosaka et al. J Biochem 115:853-857 1994
GGC->TGC
c.3370G>T
p.Gly1124Cys
Arg963Stop OI I Willing et al. Am J Hum Genet 55:638-647 1994
CGA->TGA OI I Körkkö et al. Hum Mutat 9:148-156 1997
c.3421C>T OI I Körkkö et al. Hum Mutat 9:148-156 1997
g.14421C>T OI I Lee et al. Human Mutat Mutation in Brief #894 2006 Online
p.Arg1141X OI I Venturi et al. Clin Genet 70:131-139 2006
Gly964Ser OI II Wallis et al. Am J Hum Genet 45S:A228 1989
GGT->AGT
c.3424C>A
p.Gly1142Ser
Gly973Ser OI III Gomez-Lira et al. V Int Conf on OI 120 1993
GGC->AGC
c.3451G>A
p.Gly1151Ser
Gly973Val OI II Lamande et al. J Biol Chem 264:15809-15812 1989
GGC->GTC
c.3452G>T
p.Gly1151Val
Gly976Arg OI II Lamande et al. J Biol Chem 264:15809-15812 1989
GGA->CGA
c.3460G>C
p.Gly1154Arg
Gly979Asp OI I Wang et al. Zhonghua Yi Xue Za Zhi 86:170-173 2006
GGT->GAT
c.3470G>A
p.Gly1157Asp
Gly988Cys OI II Cohn et al. Proc Natl Acad Sci USA 83:6045-6047 1986
GGT->TGT
c.3496G>T
p.Gly1166Cys
Gly994Asp OI IIC Mottes et al. Hum Mutat 12:71-72 1998 Online
GGT->GAT
c.3515G>A
p.Gly1172Asp
Gly1003Ser OI II Pruchno et al. Hum Genet 87:33-40 1991
GGC->AGC OI II Pruchno et al. Hum Genet 87:33-40 1991
c.3541G>A
p.Gly1181Ser
Gly1006Val OI II Lamande et al. J Biol Chem 264:15809-15812 1989
GGA->GTA
c.3551G>T
p.Gly1184Val
Gly1009Ser OI III Cohn et al. Matrix 10:236 (abst) 1990
GGT->AGT
c.3559G>A
p.Gly1187Ser
Gly1009Val OI II Cohn et al. Matrix 10:236 (abst) 1990
GGT->GTT
c.3560G>T
p.Gly1187Val
Gly1017Cys C-telopeptide OI I Labhard et al. Mol Biol Med 5:197-207 1988
GGT->TGT Cohn et al. J Biol Chem 263:14605-14607 1988
c.3583G>T Note: These papers refer to the same patient.
p.Gly1195Cys
(Asp1041Asn) Dense OI Lindahl et al. Calcif Tissue Int 80:Suppl 1 S101 2007
GAT->AAT
c.3655G>A
p.Asp1219Asn
(Asp1041Glu) OI II Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online
(GAT->GAG)
c.[3657T>G(+)862G>A]
p.[Asp1219Glu(+)Glu288Lys]
(Met1086Val C-propeptide) EDS/OI Symoens et al. J Med Genet 41:e96 2004 Online
(ATG->GTG)
c.3790A>G
p.[Met1264Val; Lys1263fsX60]
r.[3790a>g; 3790_3814del]
(Trp1091Stop) OI IV Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online
(TGG->TAG)
c.3806G>A
p.Trp1269X
Asp1099His C-propeptide OI II Chessler et al. J Biol Chem 268:18218-18225 1993
GAC->CAC
c.3829G>C
p.Asp1277His
Cys1121Trp OI I(?) Pace et al. J Med Genet 38:443-449 2001
TGC->TGG
c.3897C>G
p.Cys1299Trp
Trp1134Cys C-propeptide OI II Lamande et al. J Biol Chem 270:8642-8649 1995
TGG->TGT
c.3936G>T
p.Trp1312Cys
His1145Tyr C-propeptide OI I Ries-Levavi et al. Hum Mutat Mutation in Brief #701 2004 Online
CAT->TAT
c.3967C>T
p.His1323Tyr
Trp1147Stop OI I Hartikka et al. Hum Mutat 24:147-154 2004
TGG->TAG
c.3974G>A
p.Trp1325X
Leu1210Arg C-propeptide OI II Chessler et al. J Biol Chem 268:18218-18225 1993
CTG->CGG
c.4163T>G
p.Leu1388Arg
Asp1235Asn OI II Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online
GAT-AAT
c.4237G>A
p.Asp1413Asn
Leu1259Gln OI II Rugolotto et al. Acta Paediatr 96:1855-1862 2007
CTG->CAG
c.4310T>A
g.16310T>A
p.Leu1437Gln
Asp1263Tyr C-propeptide OI II-like Pace et al. J Med Genet 39:23-29 2002
GAT->TAT
c.4321G>T
p.Asp1441Tyr
Leu1286Pro C-propeptide OI III Oliver et al. Hum Mutat 7:318-326 1996
CTG->CCG
c.4391T>C
p.Leu1464Pro
with variant
Thr1058Pro C-propeptide
ACC->CCC in a2(I)
c.3443A>C
p.Thr1148Pro
Return to the start of COL1A1.
Mutation Phenotype Reference(s) Splicing variant OI I Hartikka et al. Hum Mutat 24:147-154 2004 exon 1 c.103+1G>A r.spl? Splicing variant OI I Hartikka et al. Hum Mutat 24:147-154 2004 exon 2 c.104-3C>G r.spl? Splicing variant OI I Ries-Levavi et al. Hum Mutat Mutation in Brief #701 2004 Online exon 3 c.333_333+1GG>TC r.spl? Splicing variant OI I Hartikka et al. Hum Mutat 24:147-154 2004 exon 3 c.333+2T>C r.spl? Splicing variant OI I Hartikka et al. Hum Mutat 24:147-154 2004 exon 4 c.334-2A>G r.spl? Splicing variant OI I Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online exon 5 c.471+1G>A r.spl? Splicing variant OI I Körkkö et al. Am J Hum Genet 62:98-110 1998 exon 6 c.472-2A>G r.spl? Splicing variant EDS VIIA Byers et al. Am J Med Genet 72:94-105 1997 exon 6 EDS VIIA Nicholls et al. J Med Genet 37:33e 2000 Online c.472-1G>A r.spl? Splicing variant EDS VIIA Weil et al. EMBO J 8:1705-1710 1989 exon 6 EDS VIIA D'Alessio et al. Am J Hum Genet 49:400-406 1991 c.543G>A r.spl? Splicing variant OI III/IV/EDS Cabral et al. J Biol Chem 280:19259-19269 2005 exon 7 c.588+4A>T r.spl? Splicing variant OI I Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online exon 8 c.589-2A>G r.spl? Splicing variant OI IV Schwarze et al. Am J Hum Genet 65:336-344 1999 exon 8 c.642+1G>C results in several splice products Splicing variant OI III/IV Bateman et al. Biochem J 302: 729-735 1994 exon 8 c.642+5G>A r.spl? Splicing variant OI I Lee et al. Human Mutat Mutation in Brief #894 2006 Online exon 8 c.642+5G>A r.spl? Splicing variant OI I Lee et al. Human Mutat Mutation in Brief #894 2006 Online exon 10 c.697-2delA r.spl? Splicing variant OI I Hartikka et al. Hum Mutat 24:147-154 2004 exon 10 c.697-2A>G r.spl? Splicing variant OI IV Pepin et al. Prenat Diagn 17:559-570 1997 exon 10 c.697-1G>T r.spl? Splicing variant OI III Ward et al. Hum Mutat Mutation in Brief #414 2001 Online exon 11 c.804+3_804+6delGAGT r.spl? Splicing variant OI I Körkkö et al. Am J Hum Genet 62:98-110 1998 exon 12 c.858+1G>A r.spl? Splicing variant OI III Venturi et al. Clin Genet 70:131-139 2006 exon 13 c.859-2A>C g.5374A>C r.spl Splicing variant OI I Schafer et al. Hum Genet 114:404 2004 exon 14 c.904-10T>A new acceptor in intron 13 and frameshift Splicing variant OI II Bonadio et al. J Biol Chem 265:2262-2268 1990 exon 14 c.957+5G>A r.spl? Splicing variant OI I Ward et al. Hum Mutat Mutation in Brief #414 2001 Online exon 16 c.1004-44_1004-33delCTGCCATCTCTT r.spl? Splicing variant OI I Tamborlane et al. J Pediatr Orthop 24:620-622 2004 exon 17 c.1057-2A>C r.spl? Splicing variant OI I Willing et al. Am J Med Genet 45:223-227 1993 exon 17 c.1057-2A>G r.spl? Splicing variant OI I Venturi et al. Clin Genet 70:131-139 2006 exon 17 c.1155+1G>A g.6338G>A r.spl? Splicing variant OI I Pepin et al. Prenat Diagn 17:559-570 1997 exon 17 OI III Hartikka et al. Hum Mutat 24:147-154 2004 c.1155+1G>C OI I Lee et al. Human Mutat Mutation in Brief #894 2006 Online r.spl? Splicing variant OI I Hartikka et al. Hum Mutat 24:147-154 2004 exon 17 c.1155+3_1155+6delAAGT r.spl? Splicing variant OI I Willing et al. Am J Hum Genet 55:638-647 1994 exon 18 OI I Willing et al. Am J Hum Genet 55:638-647 1994 c.1200+1G>A Creates new splice site at c.1193 causing frameshift and termination 32 aa downstream Splicing variant OI I Körkkö et al. Am J Hum Genet 62:98-110 1998 exon 19 c.1201-1G>A r.spl? Splicing variant OI I Benušienė and Kučinskas J Appl Genet 44:95-102 2003 exon 19 c.1299+1G>A r.spl? Splicing variant OI IV Cabral and Marini Am J Hum Genet 74:752-760 2004 exon 19 c.1299+1G>C r.spl? Splicing variant OI I Ward et al. Hum Mutat Mutation in Brief #414 2001 Online exon 20 c.1353+2T>C r.spl? Splicing variant OI I Körkkö et al. Am J Hum Genet 62:98-110 1998 exon 21 c.1354-12G>A r.spl? Splicing variant OI IA Benušienė and Kučinskas J Appl Genet 44:95-102 2003 exon 21 c.1354-2A>G r.spl? Splicing variant OI I Venturi et al. Clin Genet 70:131-139 2006 exon 21 c.1461+1G>C AF017178.2:g.7184G>C r.spl? Splicing variant OI II Byers et al. V Int Conf on OI 1993 exon 21 not defined Splicing variant OI I Körkkö et al. Am J Hum Genet 62:98-110 1998 exon 22 c.1515+3A>G r.spl? Splicing variant OI IB Benušienė and Kučinskas J Appl Genet 44:95-102 2003 exon 23 c.1516-1G>T r.spl? Splicing variant OI II Lee et al. Human Mutat Mutation in Brief #894 2006 Online exon 25 c.1669-2A>G r.spl? Splicing variant OI I Körkkö et al. Am J Hum Genet 62:98-110 1998 exon 26 c.1768-1G>A r.spl? Splicing variant OI I Stover et al. J Clin Invest 92:1994-2002 1993 exon 26 OI I Körkkö et al. Hum Mutat 9:148-156 1997 c.1821+1G>A OI I Johnson et al. J Cell Biol 150:417-431 2000 r.spl? OI ? Qin et al. Yi Chuan Xue Bao 32:248-252 2005 Splicing variant OI I Körkkö et al. Hum Mutat 9:148-156 1997 exon 26 c.1821+1G>T r.spl? Splicing variant OI II Byers. Trends Genet 6:293-300 1990 exon 27 OI II Pepin et al. Prenat Diagn 17:559-570 1997 c.1822-2A>C r.spl? Splicing variant OI I Lee et al. Human Mutat Mutation in Brief #894 2006 Online exon 28 c.1876-2delA r.spl Splicing variant OI IV Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online exon 28 c.1876-2A>G r.spl? Splicing variant OI IV Ward et al. Hum Mutat Mutation in Brief #414 2001 Online exon 28 c.1876-1G>C r.spl? Splicing variant OI I Venturi et al. Clin Genet 70:131-139 2006 exon 30 c.1984-5C>A g.9877C>A r.spl? Splicing variant OI III Wallis et al. Am J Hum Genet 45S:A228 1989 exon 30 not defined Splicing variant OI I Hartikka et al. Hum Mutat 24:147-154 2004 exon 30 c.2028+2T>G r.spl? Splicing variant OI I Hartikka et al. Hum Mutat 24:147-154 2004 exon 31 c.2127+2T>G r.spl? Splicing variant OI III Hartikka et al. Hum Mutat 24:147-154 2004 exon 33_34 nonsense-mediated exon skipping? c.2268_2269delTC r.spl? Splicing variant OI I Lee et al. Human Mutat Mutation in Brief #894 2006 Online exon 37 c.2452-2A>G r.spl? Splicing variant OI I Hartikka et al. Hum Mutat 24:147-154 2004 exon 37 c.2452-1G>A r.spl? Splicing variant OI I Venturi et al. Clin Genet 70:131-139 2006 exon 39 c.2667+1G>A g.12229G>A r.spl? Splicing variant OI I Hartikka et al. Hum Mutat 24:147-154 2004 exon 40 c.2829+3A>C r.spl? Splicing variant OI III Cabral et al. J Biol Chem 277:4215-4222 2002 exon 41 c.2937+4A>C r.spl? Splicing variant OI II Byers. Trends Genet 6:293-300 1990 exon 43 not defined Splicing variant OI I Hartikka et al. Hum Mutat 24:147-154 2004 exon 43 c.3046-2A>G r.spl? Splicing variant OI II Byers. Trends Genet 6:293-300 1990 exon 44 c.3100-3C>? r.spl? Splicing variant OI I Hartikka et al. Hum Mutat 24:147-154 2004 exon 44 c.3207+5G>T r.spl? Splicing variant OI III Hartikka et al. Hum Mutat 24:147-154 2004 exon 45 c.3208-2A>C r.spl? Splicing variant OI II Wallis et al. IV Int Conf on OI 55 1990 exon 47 c.3423+1G>A r.spl? Splicing variant OI III/IV Pepin et al. Prenat Diagn 17:559-570 1997 exon 48 c.3424-3C>G r.spl? Splicing variant OI I Willing et al. Am J Hum Genet 55:638-647 1994 exon 48 c.3531+1G>A retention of intron 48 Splicing variant OI I Lee et al. Human Mutat Mutation in Brief #894 2006 Online exon 49 c.3532-4_3532-2delGCA r.spl?
Return to the start of COL1A1.
Mutation Phenotype Reference(s) Frameshift OI I Hartikka et al. Hum Mutat 24:147-154 2004 c.246delC p.Gly83AlafsX182 Frameshift OI I Hartikka et al. Hum Mutat 24:147-154 2004 c.299_300insC OI I Hartikka et al. Hum Mutat 24:147-154 2004 p.Glu100AspfsX69 Frameshift OI I Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online c.386dupC p.Gly130TrpfsX39 Frameshift OI IV Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online c.386delC p.Pro129LeufsX136 Frameshift OI I Hartikka et al. Hum Mutat 24:147-154 2004 c.389_390insA p.Arg131ProfsX38 Frameshift OI I Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online c.432delC p.Gly145AspfsX120 Frameshift OI I Ries-Levavi et al. Hum Mutat Mutation in Brief #701 2004 Online c.459delT p.Gly154AlafsX111 Frameshift OI I Hartikka et al. Hum Mutat 24:147-154 2004 c.532delC p.Pro178LeufsX87 Frameshift OI I Venturi et al. Clin Genet 70:131-139 2006 c.579delT g.3743delT p.Gly194ValfsX71 Duplication OI II Cohn et al. Hum Mutat 2:21-27 1993 NG_007400.1:g.10328_11056dup p.Gly320_Ala379dup Frameshift OI I Hartikka et al. Hum Mutat 24:147-154 2004 c.614delC p.Pro205LeufsX60 Skip of exons 5 & 6 EDS VIIA Nicholls et al. J Med Genet 37:33e 2000 NG_007400.1:g.7335_8215del881insT p.Gly124_Met181del Frameshift OI I Willing et al. Am J Hum Genet 59:799-809 1996 c.775delG p.Ala259LeufsX6 Frameshift OI I Körkkö et al. Am J Hum Genet 62:98-110 1998 c.808delT p.Phe270SerfsX271 Frameshift OI I Ries-Levavi et al. Hum Mutat Mutation in Brief #701 2004 Online c.1001dupC p.Gly335TrpfsX18 Frameshift OI I Lee et al. Human Mutat Mutation in Brief #894 2006 Online c.997_998delCCinsG p.Pro333AlafsX208 Frameshift OI I Willing et al. Am J Hum Genet 59:799-809 1996 c.1127delC p.Pro376LeufsX165 Frameshift OI I Willing et al. Am J Hum Genet 59:799-809 1996 c.1127dupC p.Gly377TrpfsX15 Frameshift OI I Willing et al. Am J Hum Genet 59:799-809 1996 c.1128delT Roschger et al. Calcif Tissue Int 82:263-270 2008 p.Gly377AlafsX164 Frameshift OI IV Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online c.1379dupC p.Gly461TrpfsX14 Frameshift OI I Ward et al. Hum Mutat Mutation in Brief #414 2001 Online c.1452delT p.Gly485AlafsX56 Frameshift OI I Willing et al. Am J Hum Genet 55:638-647 1994 c.1486_1487delCC p.Pro496TrpfsX14 Deletion OI II Chu et al. J Biol Chem 260:691-694 1985 NG_007400.1:g.12149_12797del Barsh et al. Proc Natl Acad Sci USA 82:2870-2874 1985 p.Gly506_Ala589del Note: These papers refer to the same patient. Frameshift OI IB Benušienė and Kučinskas J Appl Genet 44:95-102 2003 c.1667dupC p.Gly557TrpfsX30 Frameshift OI IB Benušienė and Kučinskas J Appl Genet 44:95-102 2003 c.1668delT p.Gly557ValfsX23 Frameshift OI I Körkkö et al. Am J Hum Genet 62:98-110 1998 c.1668_1669insC p.Gly557ArgfsX30 Frameshift OI I Körkkö et al. Am J Hum Genet 62:98-110 1998 c.1719_1720insAC p.Arg574ThrfsX7 Frameshift OI I Lee et al. Human Mutat Mutation in Brief #894 2006 Online c.1814delG p.Gly605AlafsX161 Deletion/insertion OI IV Lund et al. Clin Genet 50:304-309 1996 c.1845_1847delGGC p.Glu615_Ala616delinsAsp Frameshift OI I Lee et al. Human Mutat Mutation in Brief #894 2006 Online c.1865delC p.Pro622fs Frameshift OI I Redford-Badwal et al. J Clin Invest 97:1035-1040 1996 c.1866delT p.Gly623AlafsX143 Frameshift OI I Reis et al. J Appl Genet 46:105-108 2005 c.1885delG p.Gly629AlafsX137 Frameshift OI I Venturi et al. Clin Genet 70:131-139 2006 c.1920dupC g.9256dupC p.Gly641ArgfsX14 Note: This mutation is incorrectly described for patient 11 in table 2 of Venturi et al. Frameshift OI I Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online c.1944delT p.Ala649LeufsX117 Frameshift OI I Hartikka et al. Hum Mutat 24:147-154 2004 c.1994delG p.Gly665GlufsX101 Frameshift OI I Ward et al. Hum Mutat Mutation in Brief #414 2001 Online c.2010delT p.Gly671AlafsX95 Frameshift OI IB Benušienė and Kučinskas J Appl Genet 44:95-102 2003 c.2046_2047insCTCTCTAG p.Gly683LeufsX86 Frameshift OI I Ward et al. Hum Mutat Mutation in Brief #414 2001 Online c.2072delC p.Pro691LeufsX75 Frameshift OI I Körkkö et al. Am J Hum Genet 62:98-110 1998 c.2073delT p.Gly692ValfsX74 Frameshift OI I Ries-Levavi et al. Hum Mutat Mutation in Brief #701 2004 Online c.2097delC p.Asn700ThrfsX66 Deletion OI III Wang et al. J Biol Chem 271:28617-28623 1996 NG_007400.1:g.15815_16373del559 p.Gly746_Pro817del Retention of first OI II Genovese et al. J Biol Chem 264:9632-9637 1989 75 bp of intron 35 NG_007400.1:g.16390C>T p.Pro817_Gly818ins25 Frameshift OI I Kataoka et al. Pediatr Int 49:564-569 2007 c.2444delG p.Gly815AlafsX293 Frameshift OI I Hartikka et al. Hum Mutat 24:147-154 2004 c.2451delT p.Gly818ValfsX290 Frameshift OI I Willing et al. Am J Hum Genet 59:799-809 1996 c.2451dupT p.Gly818TrpfsX3 Frameshift OI IV Ward et al. Hum Mutat Mutation in Brief #414 2001 Online c.2523delT p.Gly842AlafsX266 Frameshift OI I Hartikka et al. Hum Mutat 24:147-154 2004 c.2550dupT p.Gly851TrpfsX5 1aa duplication OI III/IV Pace et al. Hum Mutat 18:319-326 2001 c.2562_2564dupTAA p.Asn855dup Frameshift OI I Willing et al. Am J Hum Genet 59:799-809 1996 c.2510_2525del p.Asp837AlafsX266 Frameshift OI I Willing et al. Am J Hum Genet 59:799-809 1996 c.2522dupC p.Gly842TrpfsX14 Frameshift OI I Körkkö et al. Am J Hum Genet 62:98-110 1998 c.2613delT p.Gly872ValfsX236 Frameshift OI I Hartikka et al. Hum Mutat 24:147-154 2004 c.2646_2647delAG p.Val883ArgfsX29 Frameshift at Pro717 OI IV Ward et al. Hum Mutat Mutation in Brief #414 2001 Online c.2684delC p.Pro895fsX213 Deletion OI II Pace et al. Hum Mutat 18:319-326 2001 c.2722_2730delGGTCCCCGT p.Gly908_Arg910del Frameshift OI I Ward et al. Hum Mutat Mutation in Brief #414 2001 Online c.2784delT p.Gly929AlafsX179 Frameshift OI I Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online c.3008delC OI IV Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online p.Pro1003fsX105 Frameshift OI I Hartikka et al. Hum Mutat 24:147-154 2004 c.3064delG p.Gly1022Valfs Frameshift OI I Körkkö et al. Am J Hum Genet 62:98-110 1998 c.3079delG p.Asp1027ThrfsX81 Deletion OI II Pace et al. Hum Mutat 18:319-326 2001 c.3129_3137delACCCCCTGG p.Pro1044_Gly1046del Deletion OI II Pace et al. Hum Mutat 18:319-326 2001 c.3132_3140delCCCTGGTGC p.Pro1045_Ala1047del Deletion OI II Kataoka et al. Pediatr Int 49:564-569 2007 c.3145_3153delGGTGCTCCT p.Gly1049_Pro1051del Note: this mutation is incorectly described (as deletion GlyProAla) for patient 13 in table 2 of Kataoka et al. Duplication OI II Pace et al. Hum Mutat 18:319-326 2001 c.3145_3153dupGGTGCTCCT OI II Cabral et al. J Biol Chem 278:10006-10012 2003 p.Gly1049_Pro1051dup Deletion OI II Hawkins et al. J Biol Chem 266:22370-22374 1991 c.3150_3158delTCCTGGTGC p.Pro1051_Ala1053del Deletion OI II Wallis et al. J Biol Chem 267:25529-25534 1992 c.3155_3163delGTGCCCCTG p.Gly1052_Pro1054del Insertion OI II Ward et al. Hum Mutat Mutation in Brief #414 2001 Online c.3157_3158insCTGGTGGTC p.Ala1053_Pro1054insGlyGlyPro Frameshift OI I Hartikka et al. Hum Mutat 24:147-154 2004 c.3162delT p.Gly1055AlafsX53 Frameshift OI I Venturi et al. Clin Genet 70:131-139 2006 c.3201delT g.13371delT p.Glu1068ArgfsX40 Frameshift OI I Willing et al. Am J Hum Genet 55:638-647 1994 c.3285_3286dupC p.Lys1096GlnfsX3 Frameshift OI IV Lee et al. Human Mutat Mutation in Brief #894 2006 Online c.3307_3314delGGCGACAG p.Gly1103fsArgfsX23 Frameshift OI I Körkkö et al. Hum Mutat 9:148-156 1997 c.3313delA Nwosu et al. Ophthalmic Genet 26:135-138 2005 p.Arg1105GlufsX3 Frameshift OI I Willing et al. Am J Hum Genet 55:638-647 1994 c.3402delC p.Ser1135LeufsX104 6 aa deletion OI II Kataoka et al. Pediatr Int 49:564-569 2007 c.3478_3495delGGCCCCATTGGGCCCCCT p.1160_1166delGlyProIleGlyProPro 3aa duplication OI III/IV Pace et al. Hum Mutat 18:319-326 2001 c.3559_3567dupGGTCCCCCT p.Gly1190_Pro1192dupGlyProPro Frameshift OI I Hartikka et al. Hum Mutat 24:147-154 2004 c.3560delG p.Gly1187ValfsX52 Frameshift OI III Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online c.3580_3581delGC p.Ala1194TrpfsX25 Frameshift OI I Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online c.3584delG p.Gly1195ValfsX44 Frameshift OI I Willing et al. Am J Hum Genet 55:638-647 1994 c.3589_3590delGA p.Asp1197LeufsX22 3aa deletion OI III Ries-Levavi et al. Hum Mutat Mutation in Brief #701 2004 Online c.3652_3660delGCTGATGAT p.Ala1218_Asp1220delAlaAspAsp Frameshift OI I Willing et al. Am J Hum Genet 59:799-809 1996 c.3782_3794del p.Asp1261AlafsX66 Frameshift OI II Bateman et al. J Biol Chem 264:10960-10964 1989 c.3969dupT p.Val1324CysfsX105 Leu1352Stop OI I Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online c.4054delC p.Leu1352X 2aa deletion OI II Chessler et al. J Biol Chem 268:18218-18225 1993 c.4008_4013del p.Glu1337_Tyr1338del Frameshift OI IB Benušienė and Kučinskas J Appl Genet 44:95-102 2003 c.4338dupC p.Val1447ArgfsX104 Frameshift OI I Willing et al. J Clin Invest 85:282-290 1990 c.4358_4362del p.Glu1453ArgfsX96 Deletion OI I Pollitt et al. Hum Mutat Mutation in Brief #901 2006 Online Chr17q21.33_q23.1del
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Polymorphism Reference Arg59Arg N-propeptide Mackay et al. Hum Mol Genet 2:1155-1160 1993 CGG>CGT c.177G>T Pro338Pro Marini et al. J Biol Chem 268:2667-2673 1993 CCC>CCT c.1548C>T Arg386His Pruchno et al. Hum Genet 87:33-40 1991 CGC>CAC c.1691G>A p.Arg564His Ala410Ala Mackay et al. Hum Mol Genet 2:1155-1160 1993 GCT>GCC c.1764T>C Pro423Pro Mirandola et al. Mol Cell Probes 14:329-332 2000 CCC>CCT c.1803C>T Gly517Gly Nicholls et al. J Med Genet 28:757-764 1991 GGA>GGT c.2085A>T p.= Pro645Ala Mackay et al. Hum Mol Genet 2:1155-1160 1993 CCT>GCT c.2467C>T p.Pro823Ala Pro800Pro Oliver et al. Hum Mutat 7:318-326 1996 CCC>CTT c.2934 p.= Ala897Thr Sokolov et al. Nucl Acids Res 19:4302 1991 GCC>ACC c.3223G>A p.Ala1075Thr Pro899Pro Lamande et al. J Biol Chem 264:15809-15812 1989 CCT>CCC c.3231T>C Pro902Pro Lamande et al. J Biol Chem 264:15809-15812 1989 CCT>CCC c.3240T>C Val903Val Bateman et al. Am J Med Genet 45:233-240 1993 GTC>GTT c.3243C>T Asp975Asp Zhuang et al. Hum Mutat 7:89-99 1996 GAT<>GAC c.3459T>C Ser1215Ser Zhuang et al. Hum Mutat 7:89-99 1996 TCC>TCT c.4179C>T Ser1256Thr C-propeptide Mäkelä et al. Nucl Acids Res 16:349 1988 TCC>ACC c.4300T>A p.Ser1434Thr 3' untranslated Zhuang et al. Hum Mutat 7:89-99 1996 TCA>CCA nt4602 c.4483T>C 3' untranslated Nuytinck et al. Matrix Biol 16:349-352 1997 4 nt insertion (AGCA) following nt 5194 c.5075-5076insAGCA
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