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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P16112: Variant p.Val2418Met

Aggrecan core protein
Gene: ACAN
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Variant information Variant position: help 2418 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 Valine (V) to Methionine (M) at position 2418 (V2418M, p.Val2418Met). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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 SSOAOD. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 2418 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2530 The length of the canonical sequence.
Location on the sequence: help FENWRPNQPDNFFAAGEDCV V MIWHEKGEWNDVPCNYHLPF 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                         FENWRPNQPDNFFAAGEDCVVMIWHEKGEWNDVPCNYHLPF

                              FENWRPNQPDNFFVSGEDCVVMIWHEKGEWNDVPCNYYLPF

Mouse                         FEKWRPNQPDNFFATGEDCVVMIWHERGEWNDVPCNYQLPF

Rat                           FEKWRPNQPDNFFATGEDCVVMIWHERGEWNDVPCNYQLPF

Pig                           FENWRPNQPDNFFATGEDCVVMIWHEKGEWNDVPCNYQLPF

Bovine                        FENWRPNQPDNFFATGEDCVVMIWHEKGEWNDVPCNYQLPF

Rabbit                        FENWRPNQPDNFFATGEDCVVMIWHEKGEWNDVPCNYHLPF

Chicken                       FENWRPNQPDNFFFAGEDCVVMIWHEQGEWNDVPCNYHLPF
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 17 – 2530 Aggrecan core protein
Chain 393 – 2530 Aggrecan core protein 2
Domain 2327 – 2441 C-type lectin
Region 2278 – 2530 G3
Binding site 2405 – 2405
Binding site 2407 – 2407
Binding site 2408 – 2408
Binding site 2414 – 2414
Binding site 2414 – 2414
Binding site 2415 – 2415
Binding site 2428 – 2428
Binding site 2429 – 2429
Disulfide bond 2348 – 2440
Disulfide bond 2416 – 2432



Literature citations
A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans.
Stattin E.L.; Wiklund F.; Lindblom K.; Onnerfjord P.; Jonsson B.A.; Tegner Y.; Sasaki T.; Struglics A.; Lohmander S.; Dahl N.; Heinegard D.; Aspberg A.;
Am. J. Hum. Genet. 86:126-137(2010)
Cited for: VARIANT SSOAOD MET-2418; DETECTION OF VARIANT SSOAOD MET-2418 BY MASS SPECTROMETRY;
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.