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UniProtKB/Swiss-Prot P26367: Variant p.Val126Asp

Paired box protein Pax-6
Gene: PAX6
Variant information

Variant position:  126
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Valine (V) to Aspartate (D) at position 126 (V126D, p.Val126Asp).
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:  Change from medium size and hydrophobic (V) to medium size and acidic (D)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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:  In AN1; atypical form.
Any additional useful information about the variant.

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

Sequence information

Variant position:  126
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  422
The length of the canonical sequence.

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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         LLSEGVCTNDNIPSVSSINRVLRNLASEKQQM--------------------------------GADGM----------------------------------YDKL

Mouse                         LLSEGVCTNDNIPSVSSINRVLRNLASEKQQM---------

Rat                           LLSEGVCTNDNIPSVSSINRVLRNLASEKQQM---------

Bovine                        LLSEGVCTNDNIPSVSSINRVLRNLASEKQQM---------

Xenopus laevis                LLSEGVCTNDNIPSVSSINRVLRNLASDKQQM---------

Zebrafish                     LLSEGVCTNDNIPSVSSINRVLRNLASEKQQM---------


Sequence annotation in neighborhood:  
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
DNA binding 4 – 130 Paired
Region 82 – 130 RED subdomain
Helix 120 – 133

Literature citations

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.
Hanson I.M.; Churchill A.; Love J.; Axton R.; Moore T.; Clarke M.; Meire F.; van Heyningen V.;
Hum. Mol. Genet. 8:165-172(1999)
Cited for: VARIANTS AN1 PRO-33; PRO-43 AND ASP-126; VARIANT FVH1 VAL-64;

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.