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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02461: Variant p.Gly1284Glu

Collagen alpha-1(III) chain
Gene: COL3A1
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Variant information Variant position: help 1284 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 Glutamate (E) at position 1284 (G1284E, p.Gly1284Glu). 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 acidic (E) 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 PMGEDSV. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1284 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1466 The length of the canonical sequence.
Location on the sequence: help DLKFCHPELKSGEYWVDPNQ G CKLDAIKVFCNMETGETCIS 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                         DLKFCHPELKSGEYWVDPNQGCKLDAIKVFCNMETGETCIS

Mouse                         DLKFCHPELKSGEYWVDPNQGCKMDAIKVFCNMETGETCIN

Rat                           DLKFCHPELKSGEYWVDPNQGCKMDAIKVFCNMETGETCIN

Bovine                        -----------------------------------------
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
Propeptide 1222 – 1466 C-terminal propeptide
Domain 1232 – 1466 Fibrillar collagen NC1
Binding site 1280 – 1280
Binding site 1282 – 1282
Binding site 1283 – 1283
Binding site 1285 – 1285
Binding site 1288 – 1288
Disulfide bond 1262 – 1294
Disulfide bond 1268 – 1268 Interchain (with C-1285)
Disulfide bond 1285 – 1285 Interchain (with C-1268)



Literature citations
Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.
Joergensen A.; Fagerheim T.; Rand-Hendriksen S.; Lunde P.I.; Vorren T.O.; Pepin M.G.; Leistritz D.F.; Byers P.H.;
Eur. J. Hum. Genet. 23:796-802(2015)
Cited for: INVOLVEMENT IN PMGEDSV; VARIANTS PMGEDSV 596-ARG--LEU-1466 DEL AND GLU-1284;
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.