Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P54252: Variant p.Val212Met

Ataxin-3
Gene: ATXN3
Feedback?
Variant information Variant position: help 212 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 212 (V212M, p.Val212Met). 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

Polymorphism: help The poly-Gln region of ATXN3 is highly polymorphic (14 to 41 repeats) in the normal population and is expanded to about 55-82 repeats in spinocerebellar ataxia 3 (SCA3) patients (PubMed:7874163, PubMed:9274833). Additional information on the polymorphism described.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 212 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 361 The length of the canonical sequence.
Location on the sequence: help IGEELAQLKEQRVHKTDLER V LEANDGSGMLDEDEEDLQRA 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                         IGEELAQLKEQRVHK------TDLERVLEAN---DGSGMLDEDEEDLQRA

Mouse                         IGEELAHLKEQSALK------ADLERVLEAA---DGSGIFD

Rat                           IGEELAHLKEQSALK------ADLERVLEAA---DGPGMFD

Chicken                       IGEETAQSRDQRLPR------SDVDQAIEVSHPFDGTGMLD

Caenorhabditis elegans        VPPKVTPKKEQKLEKVMTKFFNTVGKRLGGG---SGAPPDS

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 1 – 361 Ataxin-3
Modified residue 219 – 219 Phosphoserine
Cross 200 – 200 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)



Literature citations
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.
Kawaguchi Y.; Okamoto T.; Taniwaki M.; Aizawa M.; Inoue M.; Katayama S.; Kawakami H.; Nakamura S.; Nishimura M.; Akiguchi I.; Kimura J.; Narumiya S.; Kakizuka A.;
Nat. Genet. 8:221-228(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS MET-212 AND GLY-306 DELINS GLN-GLN-GLN-GLN-GLN-GLN-GLN-GLN-GLN-GLN-GLN-GLN-ARG; VARIANT 349-TYR--LEU-364 DEL (ISOFORM 1); INVOLVEMENT IN SCA3; Machado-Joseph disease gene products carrying different carboxyl termini.
Goto J.; Watanabe M.; Ichikawa Y.; Yee S.-B.; Ihara N.; Endo K.; Igarashi S.; Takiyama Y.; Gaspar C.; Maciel P.; Tsuji S.; Rouleau G.A.; Kanazawa I.;
Neurosci. Res. 28:373-377(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); VARIANTS MET-212 AND GLY-306 DELINS GLN-GLN-GLN-GLN-GLN-GLN-GLN-GLN-GLN-GLN-GLN-GLN-ARG; VARIANT 349-TYR--LEU-364 DEL (ISOFORM 1); Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT MET-212;
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.