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UniProtKB/Swiss-Prot P14679: Variant p.Ser192Tyr

Tyrosinase
Gene: TYR
Variant information

Variant position:  192
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
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 Serine (S) to Tyrosine (Y) at position 192 (S192Y, p.Ser192Tyr).
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 small size and polar (S) to large size and aromatic (Y)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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 (WS2-OA) in association with a deletion in the MITF gene. -
Additional information on the polymorphism described.

Variant description:  Associated with SHEP3; light/dark skin.
Any additional useful information about the variant.

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



Sequence information

Variant position:  192
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  529
The length of the canonical sequence.

Location on the sequence:   IYDLFVWMHYYVSMDALLGG  S EIWRDIDFAHEAPAFLPWHR
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.

TypePositionsDescription
Chain 19 – 529 Tyrosinase
Topological domain 19 – 476 Lumenal, melanosome
Metal binding 180 – 180 Copper A
Metal binding 202 – 202 Copper A
Metal binding 211 – 211 Copper A


Literature citations

The tyrosinase gene in gorillas and the albinism of 'Snowflake'.
Martinez-Arias R.; Comas D.; Andres A.; Abello M.-T.; Domingo-Roura X.; Bertranpetit J.;
Pigment Cell Res. 13:467-470(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); VARIANT TYR-192;

Molecular phylogenetics and the origins of placental mammals.
Murphy W.J.; Eizirik E.; Johnson W.E.; Zhang Y.-P.; Ryder O.A.; O'Brien S.J.;
Nature 409:614-618(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 54-195; VARIANT TYR-192;

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)
Cited for: VARIANTS OCA1A LYS-373 AND ASN-383; VARIANTS TYR-192 AND 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;

A genomewide association study of skin pigmentation in a South Asian population.
Stokowski R.P.; Pant P.V.K.; Dadd T.; Fereday A.; Hinds D.A.; Jarman C.; Filsell W.; Ginger R.S.; Green M.R.; van der Ouderaa F.J.; Cox D.R.;
Am. J. Hum. Genet. 81:1119-1132(2007)
Cited for: VARIANT TYR-192; ASSOCIATION WITH SHEP3;

Genetic determinants of hair, eye and skin pigmentation in Europeans.
Sulem P.; Gudbjartsson D.F.; Stacey S.N.; Helgason A.; Rafnar T.; Magnusson K.P.; Manolescu A.; Karason A.; Palsson A.; Thorleifsson G.; Jakobsdottir M.; Steinberg S.; Palsson S.; Jonasson F.; Sigurgeirsson B.; Thorisdottir K.; Ragnarsson R.; Benediktsdottir K.R.; Aben K.K.; Kiemeney L.A.; Olafsson J.H.; Gulcher J.; Kong A.; Thorsteinsdottir U.; Stefansson K.;
Nat. Genet. 39:1443-1452(2007)
Cited for: VARIANT TYR-192; ASSOCIATION WITH SHEP3;

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.