[osteogenesis imperfecta & Ehlers-Danlos syndrome variant databases]

collagen helix

[introduction]

This database aims to record all published accounts of variants resulting in osteogenesis imperfecta. Such variants occur in the COL1A1, COL1A2, BMP1, CREB3L1, CRTAP, FKBP10, IFITM5, LEPRE1, PLS3, PLOD2, PPIB, SERPINF1, SERPINH1, SP7, TMEM38B and WNT1 genes.

Variants in the type III collagen gene, COL3A1, result predominantly in vascular Ehlers-Danlos syndrome. Variants in the type V collagen genes, COL5A1 and COL5A2, result predominantly in classical Ehlers-Danlos syndrome.

[the OI variant data]

BMP1
bone morphogenetic protein 1
new data last added: 11 April 2012
corrections and other changes:
View new BMP1 data and updates RSS feed

COL1A1
collagen, type I, alpha 1
new data last added: 9 April 2014
corrections and other changes: 2 April 2014
View new COL1A1data and updates RSS feed

COL1A2
collagen, type I, alpha 2
new data last added: 2 April 2014
corrections and other changes: 2 April 2014
View new COL1A2 data and updates RSS feed

CREB3L1
cAMP responsive element binding protein 3-like 1
new data last added: 2 October 2013
corrections and other changes:
View new CREB3L1 data and updates RSS feed

CRTAP
cartilage associated protein
new data last added: 26 April 2013
corrections and other changes: 18 Febraury 2011
View new CRTAP data and updates RSS feed

FKBP10
FK506 binding protein 10, 65 kDa
new data last added: 26 April 2013
corrections and other changes: 29 May 2013
View new FKBP10 data and updates RSS feed

IFITM5
interferon induced transmembrane protein 5
new data last added: 13 February 2014
corrections and other changes: 3 February 2014
View new IFITM5 data and updates RSS feed

LEPRE1
leucine proline-enriched proteoglycan (leprecan) 1
new data last added: 10 February 2014
corrections and other changes: 10 February 2014
View new LEPRE1 data and updates RSS feed

PLOD2
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
new data last added: 19 April 2012
corrections and other changes: 3 October 2011
View new PLOD2 data and updates RSS feed

PLS3new
plastin 3
new data last added: 14 March 2014
corrections and other changes:
View new PLS3 data and updates RSS feed

PPIB
peptidylprolyl isomerase B (cyclophilin B)
new data last added: 26 April 2013
corrections and other changes: 29 October 2012
View new PPIB data and updates RSS feed

SERPINF1
serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
new data last added: 18 July 2013
corrections and other changes: 7 June 2012
View new SERPINF1 data and updates RSS feed

SERPINH1
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
new data last added: 26 April 2013
corrections and other changes: 28 June 2011
View new SERPINH1 data and updates RSS feed

SP7
Sp7 transcription factor
new data last added: 30 June 2010
corrections and other changes: 18 February 2011
View new SP7 data and updates RSS feed

TMEM38B
transmembrane protein 38B
new data last added: 6 December 2012
corrections and other changes: 15 January 2013
View new TMEM38B data and updates RSS feed

WNT1
wingless-type MMTV integration site family, member 1
new data last added: 28 May 2013
corrections and other changes:
View new WNT1 data and updates RSS feed

[the EDS variant data]

ADAMTS2new
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
new data last added: 13 November 2013
corrections and other changes:
View new ADAMTS2 data and updates RSS feed

B4GALT7new
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
new data last added: 21 January 2014
corrections and other changes: 21 January 2014
View new CHST14 data and updates RSS feed

CHST14
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
new data last added: 6 November 2012
corrections and other changes:
View new CHST14 data and updates RSS feed

COL3A1
collagen, type III, alpha 1
new data last added: 8 April 2014
corrections and other changes: 8 April 2014
View new COL3A1 data and updates RSS feed

COL5A1
collagen, type V, alpha 1
new data last added: 4 April 2014
corrections and other changes: 28 Febraury2014
View new COL5A1 data and updates RSS feed

COL5A2
collagen, type V, alpha 2
new data last added: 22 April 2013
corrections and other changes: 23 August 2011
View new COL5A2 data and updates RSS feed

DSEnew
dermatan sulfate epimerase
new data last added: 7 March 2014
corrections and other changes:
View new DSE data and updates RSS feed

PLOD1
procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
new data last added: 5 August 2011
corrections and other changes: 23 August 2011
View new PLOD1 data and updates RSS feed

PLOD3
procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 3
new data last added: 9 June 2013
corrections and other changes:
View new PLOD3 data and updates RSS feed

TNXBnew
tenascin XB
new data last added: 15 January 2014
corrections and other changes:
View new TNXB data and updates RSS feed

[guides to numbering the variants]

Correctly numbering variants in accordance with nomenclature recommendations can be a difficult task. To help in this process, a nomenclature summary page has been written and specific annotated guides for COL1A1, COL1A2 and COL3A1 have been prepared: last updated 23 May 2013

[This page last updated: 9 April 2014]