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UniProtKB/Swiss-Prot P26367: Variant p.Arg242Thr

Paired box protein Pax-6
Gene: PAX6
Variant information

Variant position:  242
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 Arginine (R) to Threonine (T) at position 242 (R242T, p.Arg242Thr).
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 large size and basic (R) to medium size and polar (T)
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; the mutant homeodomain binds DNA as well as the wild-type homeodomain; the mutant does not modify the DNA-binding properties of the paired domain; the steady-state levels of the full-length mutant protein are higher than those of the wild-type one; a responsive promoter is activated to a higher extent by the mutant protein than by the wild-type protein; the presence of the mutation reduces sensitivity to trypsin digestion.
Any additional useful information about the variant.

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



Sequence information

Variant position:  242
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:   IEALEKEFERTHYPDVFARE  R LAAKIDLPEARIQVWFSNRR
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                         IEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRR

Mouse                         IEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRR

Rat                           IEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRR

Bovine                        IEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRR

Xenopus laevis                IEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRR

Zebrafish                     IEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRR

Drosophila                    IDSLEKEFERTHYPDVFARERLAGKIGLPEARIQVWFSNRR

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 210 – 269 Homeobox
Helix 237 – 246


Literature citations

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.
Morrison D.; FitzPatrick D.; Hanson I.; Williamson K.; van Heyningen V.; Fleck B.; Jones I.; Chalmers J.; Campbell H.;
J. Med. Genet. 39:16-22(2002)
Cited for: VARIANT AN1 THR-242;

Molecular analysis of a human PAX6 homeobox mutant.
D'Elia A.V.; Puppin C.; Pellizzari L.; Pianta A.; Bregant E.; Lonigro R.; Tell G.; Fogolari F.; van Heyningen V.; Damante G.;
Eur. J. Hum. Genet. 14:744-751(2006)
Cited for: CHARACTERIZATION OF VARIANT AN1 THR-242;

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.