UniProtKB/Swiss-Prot Q04671: Variant p.Thr592Ile

P protein
Gene: OCA2
Chromosomal location: 15q11.2-q12
Variant information

Variant position:  592
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 Threonine (T) to Isoleucine (I) at position 592 (T592I, p.Thr592Ile).
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 polar (T) to medium size and hydrophobic (I)
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:  Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]: An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have complete absence of melanin pigment, most patients acquire small amounts of pigment with age. Visual anomalies include decreased acuity and nystagmus. The phenotype is highly variable. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides. {ECO:0000269|PubMed:10649493, ECO:0000269|PubMed:10671067, ECO:0000269|PubMed:10987646, ECO:0000269|PubMed:12713581, ECO:0000269|PubMed:12727022, ECO:0000269|PubMed:12876664, ECO:0000269|PubMed:17385796, ECO:0000269|PubMed:23504663, ECO:0000269|PubMed:7762554, ECO:0000269|PubMed:7874125, ECO:0000269|PubMed:9259203}. 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 OCA2.
Any additional useful information about the variant.

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



Sequence information

Variant position:  592
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  838
The length of the canonical sequence.

Location on the sequence:   RRLLLGKVLALEHLLARRLH  T FHRQISQEDKNWETNIQELQ
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                         RRLLLGKVLALEHLLARRLHTFHRQISQEDKNWETNIQELQ

Mouse                         RGLLLEKVLALEHLLAQRLHTFHRQISQEDKNWETNIQELQ

Pig                           RGLLLEKVLSLERLLARRLHSFHRQISQEDKNWETNIQELQ

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 – 838 P protein
Topological domain 531 – 620 Cytoplasmic


Literature citations

Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2).
Oetting W.S.; Gardner J.M.; Fryer J.P.; Ching A.; Durham-Pierre D.; King R.A.; Brilliant M.H.;
Hum. Mutat. 12:434-434(1998)
Cited for: VARIANTS OCA2 ARG-86; PHE-112; VAL-368; ILE-592; PRO-724 AND VAL-787; VARIANT ASP-257;

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.