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UniProtKB/Swiss-Prot P14679: Variant p.Arg402Gln

Gene: TYR
Variant information

Variant position:  402
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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 Arginine (R) to Glutamine (Q) at position 402 (R402Q, p.Arg402Gln).
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 (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

Polymorphism:  Genetic variants in TYR define the skin/hair/eye pigmentation variation locus 3 (SHEP3) [MIM:601800]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair.Compound heterozygosity for the R402Q polymorphism and a mutant allele of TYR is a common cause of autosomal recessive ocular albinism. The R402Q polymorphism is also found in Waardenburg syndrome type II with ocular albinism in association with a deletion in the MITF gene. -
Additional information on the polymorphism described.

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

Sequence information

Variant position:  402
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  529
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.

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 19 – 529 Tyrosinase
Topological domain 19 – 476 Lumenal, melanosome
Binding site 390 – 390
Alternative sequence 378 – 529 Missing. In isoform 2.

Literature citations

Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism.
Spritz R.A.; Strunk K.M.; Giebel L.B.; King R.A.;
N. Engl. J. Med. 322:1724-1728(1990)

Initiation codon mutation of the tyrosinase gene as a cause of human albinism.
Breimer L.H.; Winder A.F.; Jay B.; Jay M.;
Clin. Chim. Acta 227:17-22(1994)
Cited for: VARIANTS OCA1A TYR-367; THR-370 AND LYS-373; VARIANT GLN-402;

Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA).
Morell R.; Spritz R.A.; Ho L.; Pierpont J.; Guo W.; Friedman T.B.; Asher J.H. Jr.;
Hum. Mol. Genet. 6:659-664(1997)
Cited for: VARIANT GLN-402;

Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.
Passmore L.A.; Kaesmann-Kellner B.; Weber B.H.F.;
Hum. Genet. 105:200-210(1999)
Cited for: VARIANTS OCA1A TYR-36; GLN-77; TRP-77; LEU-81; ARG-97; GLN-217; TRP-217; SER-236; CYS-272; ARG-289; GLY-294; LYS-294; PRO-355; TYR-371; LYS-373; LEU-406; ARG-419; GLN-422; VAL-439; SER-446 AND ASN-448; VARIANT OCA1B SER-403; VARIANTS TYR-192 AND GLN-402;

Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.
Opitz S.; Kaesmann-Kellner B.; Kaufmann M.; Schwinger E.; Zuehlke C.;
Hum. Mutat. 23:630-631(2004)
Cited for: VARIANTS OCA1A ARG-44; GLY-44; ASP-47; VAL-47; HIS-68; GLN-77; LEU-79; LEU-81; SER-155; PHE-177; LEU-179; ASN-180; ASN-199; SER-201; SER-217; LEU-236; VAL-240; THR-243; TYR-256; ARG-289; GLU-318; PRO-329; THR-332; GLY-345; PRO-355; LYS-373; LYS-378; ASN-383; PHE-393; ARG-395; VAL-398; ALA-398; LEU-402; SER-403; ASN-404; LEU-405; LEU-406; HIS-408; ASP-409; SER-416; HIS-417; ARG-419; GLN-422; PHE-424; LYS-426; GLY-427; ILE-434; ASP-435; GLY-444 AND ASN-448; VARIANTS TYR-192 AND GLN-402;

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.