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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q02388: Variant p.Gly1776Arg

Collagen alpha-1(VII) chain
Gene: COL7A1
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Variant information Variant position: help 1776
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Arginine (R) at position 1776 (G1776R, p.Gly1776Arg).
Physico-chemical properties: help Change from glycine (G) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In DDEB.


Sequence information Variant position: help 1776
Protein sequence length: help 2944
Location on the sequence: help PQGDPGVRGPAGEKGDRGPP G LDGRSGLDGKPGAAGPSGPN
Residue conservation: help 
Human                         PQGDPGVRGPAGEKGDRGPPGLDGRSGLDGKPGAAGPSGPN

Mouse                         PQGDPGVRGPAGDKGDRGPPGLDGRSGLDGKPGAPGPPGLH
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 17 – 2944 Collagen alpha-1(VII) chain
Region 1239 – 1941 Disordered
Region 1254 – 2784 Triple-helical region



Literature citations
Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.
Christiano A.M.; McGrath J.A.; Tan K.C.; Uitto J.;
Am. J. Hum. Genet. 58:671-681(1996)
Cited for: VARIANTS DDEB ARG-1557; ARG-1776 AND GLU-2055; VARIANTS RDEB ARG-2569; ARG-2653; ARG-2674 AND ARG-2749; Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.
Whittock N.V.; Ashton G.H.S.; Mohammedi R.; Mellerio J.E.; Mathew C.G.; Abbs S.J.; Eady R.A.J.; McGrath J.A.;
J. Invest. Dermatol. 113:673-686(1999)
Cited for: VARIANTS DDEB GLU-1522; ARG-1776; ALA-2006; VAL-2046 AND TRP-2791; VARIANTS RDEB ARG-1604; GLU-1703; TRP-1772; ASP-2132; SER-2192; VAL-2263; ASP-2674 AND ALA-2740; VARIANT ARG-2351;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.