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UniProtKB/Swiss-Prot P26367: Variant p.Val53Leu

Paired box protein Pax-6
Gene: PAX6
Variant information

Variant position:  53
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Valine (V) to Leucine (L) at position 53 (V53L, p.Val53Leu).
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:  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:  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

Involvement in disease:  Aniridia 1 (AN1) [MIM:106210]: A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time. {ECO:0000269|PubMed:10234503, ECO:0000269|PubMed:10737978, ECO:0000269|PubMed:11309364, ECO:0000269|PubMed:11553050, ECO:0000269|PubMed:11826019, ECO:0000269|PubMed:12552561, ECO:0000269|PubMed:12634864, ECO:0000269|PubMed:16493447, ECO:0000269|PubMed:17595013, ECO:0000269|PubMed:21850189, ECO:0000269|PubMed:24033328, ECO:0000269|PubMed:8364574, ECO:0000269|PubMed:9147640, ECO:0000269|PubMed:9281415, ECO:0000269|PubMed:9792406, ECO:0000269|PubMed:9856761, ECO:0000269|PubMed:9931324, ECO:0000269|Ref.27, ECO:0000269|Ref.28}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In AN1; mild; shows 50% lower DNA-binding and transactivation ability than the wild-type protein.
Any additional useful information about the variant.



Sequence information

Variant position:  53
The position of the amino-acid change on the UniProtKB canonical protein sequence.

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

Location on the sequence:   AHSGARPCDISRILQVSNGC  V SKILGRYYETGSIRPRAIGG
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                         AHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGG

Mouse                         AHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGG

Rat                           AHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGG

Bovine                        AHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGG

Xenopus laevis                AHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGG

Zebrafish                     AHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGG

Drosophila                    AHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGG

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.

TypePositionsDescription
Chain 1 – 422 Paired box protein Pax-6
DNA binding 4 – 130 Paired
Region 7 – 63 PAI subdomain
Alternative sequence 47 – 47 Q -> QTHADAKVQVLDNQN. In isoform 5a.
Helix 50 – 63


Literature citations

Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.
Groenskov K.; Rosenberg T.; Sand A.; Broendum-Nielsen K.;
Eur. J. Hum. Genet. 7:274-286(1999)
Cited for: ALTERNATIVE SPLICING; VARIANTS AN1 SER-42; LEU-53; PRO-63; GLU-79 AND GLN-208;

Missense mutations in the DNA-binding region and termination codon in PAX6.
Chao L.-Y.; Mishra R.; Strong L.C.; Saunders G.F.;
Hum. Mutat. 21:138-145(2003)
Cited for: VARIANTS AN1 ARG-46; ARG-52; THR-56; ASP-73 AND LYS-87; VARIANT THR-321; CHARACTERIZATION OF VARIANTS AN1 ARG-46; ARG-52; LEU-53; THR-56 AND ASP-73; CHARACTERIZATION OF VARIANT THR-321;

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.