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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UMD9: Variant p.Gly627Val

Collagen alpha-1(XVII) chain
Gene: COL17A1
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Variant information Variant position: help 627 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 Valine (V) at position 627 (G627V, p.Gly627Val). 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 medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 JEB4. Any additional useful information about the variant.


Sequence information Variant position: help 627 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1497 The length of the canonical sequence.
Location on the sequence: help QKGSVGDPGMEGPMGQRGRE G PMGPRGEAGPPGSGEKGERG 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                         QKGSVGDPGMEGPMGQRGREGPMGPRGEAGPPGSGEKGERG

                              QKGSVGEPGMEGPMGQRGREGPMGPRGEPGPPGFGEKGDRG

Mouse                         QKGSIGDPGMEGPIGQRGLAGPMGPRGEPGPPGSGEKGDRG

Bovine                        QKGNVGEPGMEGPMGQRGREGPMGPRGEPGPPGFGEKGDRG

Chicken                       QKGSMGDPGMEGPMGQRGREGLPGPRGEPGPPGFGEKGDRG
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 1 – 1497 Collagen alpha-1(XVII) chain
Chain 524 – 1497 120 kDa linear IgA disease antigen
Topological domain 489 – 1497 Extracellular
Region 562 – 1011 Disordered
Region 567 – 1482 Triple-helical region



Literature citations
Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition.
McGrath J.A.; Gatalica B.; Li K.; Dunnill M.G.S.; McMillan J.R.; Christiano A.M.; Eady R.A.J.; Uitto J.;
Am. J. Pathol. 148:1787-1796(1996)
Cited for: VARIANT JEB4 VAL-627; Collagen XVII is destabilized by a glycine substitution mutation in the cell adhesion domain Col15.
Tasanen K.; Eble J.A.; Aumailley M.; Schumann H.; Baetge J.; Tu H.; Bruckner P.; Bruckner-Tuderman L.;
J. Biol. Chem. 275:3093-3099(2000)
Cited for: VARIANT JEB4 VAL-627;
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.