Home  |  Contact

UniProtKB/Swiss-Prot P02458: Variant p.Gly1176Val

Collagen alpha-1(II) chain
Gene: COL2A1
Variant information

Variant position:  1176
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  US
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:  From Glycine (G) to Valine (V) at position 1176 (G1176V, p.Gly1176Val).
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 medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  Mutation found in a patient with features of multiple epiphyseal dysplasia; features overlap with SEDC.
Any additional useful information about the variant.



Sequence information

Variant position:  1176
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1487
The length of the canonical sequence.

Location on the sequence:   PAGPSGPRGPPGPVGPSGKD  G ANGIPGPIGPPGPRGRSGET
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         PAGPSGPRGPPGPVGPSGKDGANGIPGPIGPPGPRGRSGET

Mouse                         PAGPSGPRGPPGPVGPSGKDGSNGIPGPIGPPGPRGRSGET

Rat                           PAGPSGPRGPPGPVGPSGKDGSNGIPGPIGPPGPRGRSGET

Bovine                        PAGPSGPRGPPGPVGPSGKDGANGIPGPIGPPGPRGRSGET

Xenopus laevis                PAGPAGPRGPPGPVGPSGKDGSNGISGPIGPPGPRGRSGET

Xenopus tropicalis            PAGPGGPRGPPGPVGPSGKDGSNGLPGPIGPPGPRGRGGET

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 182 – 1241 Collagen alpha-1(II) chain
Region 97 – 1237 Disordered
Region 201 – 1214 Triple-helical region
Modified residue 1181 – 1181 4-hydroxyproline
Modified residue 1186 – 1186 3-hydroxyproline
Modified residue 1187 – 1187 4-hydroxyproline
Alternative sequence 1 – 1219 Missing. In isoform 3.


Literature citations

Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
Jackson G.C.; Mittaz-Crettol L.; Taylor J.A.; Mortier G.R.; Spranger J.; Zabel B.; Le Merrer M.; Cormier-Daire V.; Hall C.M.; Offiah A.; Wright M.J.; Savarirayan R.; Nishimura G.; Ramsden S.C.; Elles R.; Bonafe L.; Superti-Furga A.; Unger S.; Zankl A.; Briggs M.D.;
Hum. Mutat. 33:144-157(2012)
Cited for: VARIANTS VAL-1176 AND ARG-1179;

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.