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UniProtKB/Swiss-Prot P26367: Variant p.Gly387Asp

Paired box protein Pax-6
Gene: PAX6
Variant information Variant position: help 387 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 Glycine (G) to Aspartate (D) at position 387 (G387D, p.Gly387Asp). 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 glycine (G) 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

Other resources: help Links to websites of interest for the variant.

Sequence information Variant position: help 387 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 422 The length of the canonical sequence.
Location on the sequence: help RSYDTYTPPHMQTHMNSQPM G TSGTTSTGLISPGVSVPVQV 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                         RSYDTYTP-----------------------------PHMQTHMNSQPMGTSGTTSTGL----------ISPGVS----------------VPVQV

Mouse                         RSYDTYTP-----------------------------PHMQ

Rat                           RSYDTYTP-----------------------------PHMQ

Bovine                        RSYDTYTP-----------------------------PHMQ

Xenopus laevis                RSYDTYTP-----------------------------PHMQ

Zebrafish                     RSYDTYTP-----------------------------PHMQ


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.
Chain 1 – 422 Paired box protein Pax-6
Region 345 – 422 Required for suppression of NFATC1-mediated transcription

Literature citations
Mutation in the PAX6 gene in twenty patients with aniridia.
Chao L.-Y.; Huff V.; Strong L.C.; Saunders G.F.;
Hum. Mutat. 15:332-339(2000)
Cited for: VARIANT AN1 37-ARG--PRO-39 DEL; VARIANT ASP-387;
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.