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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P23760: Variant p.His80Asp

Paired box protein Pax-3
Gene: PAX3
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Variant information Variant position: help 80 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 Histidine (H) to Aspartate (D) at position 80 (H80D, p.His80Asp). 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 (H) to medium size and acidic (D) 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 WS1; results in decreased transcriptional activation of MITF; no effect on localization to nucleus; no effect on interaction with SOX10. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 80 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 479 The length of the canonical sequence.
Location on the sequence: help VEMAHHGIRPCVISRQLRVS H GCVSKILCRYQETGSIRPGA 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: 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 – 479 Paired box protein Pax-3
DNA binding 34 – 161 Paired
Region 37 – 93 PAI subdomain



Literature citations
Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.
Zhang H.; Chen H.; Luo H.; An J.; Sun L.; Mei L.; He C.; Jiang L.; Jiang W.; Xia K.; Li J.D.; Feng Y.;
Hum. Genet. 131:491-503(2012)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH SOX10; CHARACTERIZATION OF VARIANT WS1 ASP-80; Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.
Chen H.; Jiang L.; Xie Z.; Mei L.; He C.; Hu Z.; Xia K.; Feng Y.;
Biochem. Biophys. Res. Commun. 397:70-74(2010)
Cited for: VARIANTS WS1 ASP-80; 223-ARG--PHE-479 DEL; PRO-234 AND HIS-271;
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.