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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08123: Variant p.Cys1195Tyr

Collagen alpha-2(I) chain
Gene: COL1A2
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Variant information Variant position: help 1195 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 Cysteine (C) to Tyrosine (Y) at position 1195 (C1195Y, p.Cys1195Tyr). 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 medium size and polar (C) to large size and aromatic (Y) 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 OI1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1195 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1366 The length of the canonical sequence.
Location on the sequence: help SGYYWIDPNQGCTMDAIKVY C DFSTGETCIRAQPENIPAKN 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                         SGYYWIDPNQGCTMDAIKVYCDFSTGETCIRAQPENIPAKN

                              SGYYWIDPNQGCTMDAIKVYCDFSTGETCIRAQPENIPAKN

Mouse                         SDYYWIDPNQGCTMDAIKVYCDFSTGETCIQAQPVNTPAKN

Rat                           SDYYWIDPNQGCTMDAIKVYCDFSTGETCIQAQPVNTPAKN

Bovine                        SGYYWIDPNQGCTMDAIKVYCDFSTGETCIRAQPEDIPVKN

Chicken                       SGFYWIDPNQGCTADAIRAYCDFATGETCIHASLEDIPTKT
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 1120 – 1366 C-terminal propeptide
Domain 1133 – 1366 Fibrillar collagen NC1
Binding site 1181 – 1181
Binding site 1183 – 1183
Binding site 1184 – 1184
Binding site 1186 – 1186
Binding site 1189 – 1189
Disulfide bond 1163 – 1195



Literature citations
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
Pollitt R.; McMahon R.; Nunn J.; Bamford R.; Afifi A.; Bishop N.; Dalton A.;
Hum. Mutat. 27:716-716(2006)
Cited for: VARIANTS OI4 ARG-202 AND VAL-256; VARIANTS OI1 ARG-247; ARG-319; CYS-733 AND TYR-1195; VARIANTS OI2 ASP-253; ASP-982 AND ASP-1003; VARIANT OI3 ASP-1087;
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.