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UniProtKB/Swiss-Prot P26367: Variant p.Pro375Gln

Paired box protein Pax-6
Gene: PAX6
Chromosomal location: 11p13
Variant information

Variant position:  375
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 Proline (P) to Glutamine (Q) at position 375 (P375Q, p.Pro375Gln).
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 (P) to medium size and polar (Q)
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; reduced DNA binding ability.
Any additional useful information about the variant.

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



Sequence information

Variant position:  375
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:   SCMLPTSPSVNGRSYDTYTP  P HMQTHMNSQPMGTSGTTSTG
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                         SCMLPTSP---------------------------------SVNGRSYDTYTP-----------------------------PHMQTHMNSQPMGTSGTTSTG

Mouse                         SCMLPTSP---------------------------------

Rat                           SCMLPTSP---------------------------------

Bovine                        SCMLPTSP---------------------------------

Xenopus laevis                SCMLPTSP---------------------------------

Zebrafish                     SCMLPTSP---------------------------------

Drosophila                    PCHMTLRPPPMAPAHHHIVPGDGGRPAGVGLGSGQSANLGA

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
Compositional bias 279 – 422 Pro/Ser/Thr-rich


Literature citations

Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.
Singh S.; Chao L.-Y.; Mishra R.; Davies J.; Saunders G.F.;
Hum. Mol. Genet. 10:911-918(2001)
Cited for: VARIANTS AN1 GLN-375 AND ARG-422;

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.