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UniProtKB/Swiss-Prot Q8IZC6: Variant p.Gly697Arg

Collagen alpha-1(XXVII) chain
Gene: COL27A1
Chromosomal location: 9q33.1
Variant information

Variant position:  697
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Glycine (G) to Arginine (R) at position 697 (G697R, p.Gly697Arg).
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:  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:  -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

Involvement in disease:  Steel syndrome (STLS) [MIM:615155]: A syndrome characterized by dislocated hips and radial heads, fusion of carpal bones, short stature, scoliosis, and cervical spine anomalies. Facial features include prominent forehead, long oval-shaped face, hypertelorism and broad nasal bridge. {ECO:0000269|PubMed:24986830}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In STLS.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  697
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1860
The length of the canonical sequence.

Location on the sequence:   DPGLSPGKAHDGAKGDMGLP  G LSGNPGPPGRKGHKGYPGPA
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.

Sequence annotation in neighborhood:  
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 625 – 1621 Collagen alpha-1(XXVII) chain
Domain 688 – 747 Collagen-like 2
Region 625 – 1618 Triple-helical region
Compositional bias 283 – 1621 Pro-rich
Alternative sequence 1 – 1033 Missing. In isoform 2.
Alternative sequence 637 – 703 GPPGLPGLPGIPGARGPRGPPGPYGNPGLPGPPGAKGQKGDPGLSPGKAHDGAKGDMGLPGLSGNPG -> VRLSGVCMLLGAPVGDWGIGQVVAPSKDRKRSSLEQGAGYGYILGSSQAPGSSGSAKCIIAHPAPDS. In isoform 3.


Literature citations

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.
Gonzaga-Jauregui C.; Gamble C.N.; Yuan B.; Penney S.; Jhangiani S.; Muzny D.M.; Gibbs R.A.; Lupski J.R.; Hecht J.T.;
Eur. J. Hum. Genet. 23:342-346(2015)
Cited for: INVOLVEMENT IN STLS; VARIANT STLS ARG-697;

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.