Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q02388: Variant p.Gly2674Arg

Collagen alpha-1(VII) chain
Gene: COL7A1
Feedback?
Variant information Variant position: help 2674 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Glycine (G) to Arginine (R) at position 2674 (G2674R, p.Gly2674Arg). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In RDEB; mitis type. Any additional useful information about the variant.


Sequence information Variant position: help 2674 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2944 The length of the canonical sequence.
Location on the sequence: help LAGHKGEMGEPGVPGQSGAP G KEGLIGPKGDRGFDGQPGPK The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LAGHKGEMGEPGVPGQSGAPGKEGLIGPKGDRGFDGQPGPK

Mouse                         LAGKKGDMGEPGLPGQSGAPGKEGLIGPKGDRGFDGQSGPK
Sequence annotation in neighborhood: help The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.
TypePositionsDescription
Chain 17 – 2944 Collagen alpha-1(VII) chain
Region 1254 – 2784 Triple-helical region
Region 1963 – 2782 Disordered
Modified residue 2664 – 2664 4-hydroxyproline
Modified residue 2667 – 2667 4-hydroxyproline
Modified residue 2673 – 2673 4-hydroxyproline



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;
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.