Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P14679: Variant p.Arg299His

Tyrosinase
Gene: TYR
Feedback?
Variant information Variant position: help 299 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Arginine (R) to Histidine (H) at position 299 (R299H, p.Arg299His). 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: help Change from large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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

Variant description: help In OCA1A. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 299 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 529 The length of the canonical sequence.
Location on the sequence: help LEEYNSHQSLCNGTPEGPLR R NPGNHDKSRTPRLPSSADVE 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: help 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 19 – 529 Tyrosinase
Topological domain 19 – 476 Lumenal, melanosome
Region 287 – 313 Disordered



Literature citations
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.
Tripathi R.K.; Strunk K.M.; Giebel L.B.; Weleber R.G.; Spritz R.A.;
Am. J. Med. Genet. 43:865-871(1992)
Cited for: VARIANTS OCA1A SER-21; TRP-217; HIS-299; SER-403; SER-446 AND ASN-448; Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.
Gershoni-Baruch R.; Rosenmann A.; Droetto S.; Holmes S.A.; Tripathi R.K.; Spritz R.A.;
Am. J. Hum. Genet. 54:586-594(1994)
Cited for: VARIANTS OCA1A ASP-47; CYS-217 DEL; HIS-299 AND LYS-373; VARIANTS OCA1B SER-152 AND LYS-294; Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan.
Tsai C.-H.; Tsai F.-J.; Wu J.-Y.; Lin S.-P.; Chang J.-G.; Yang C.-F.; Lee C.-C.;
Hum. Mutat. 14:542-542(1999)
Cited for: VARIANTS OCA1A TYR-55; ARG-77 INS; GLY-289; HIS-299; SER-299 AND LEU-400;
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.