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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P17643: Variant p.Arg93Cys

5,6-dihydroxyindole-2-carboxylic acid oxidase
Gene: TYRP1
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Variant information Variant position: help 93 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Cysteine (C) at position 93 (R93C, p.Arg93Cys). 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 (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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: help Genetic variants in TYRP1 define the skin/hair/eye pigmentation variation locus 11 (SHEP11) [MIM:612271] and are responsible for variability in hair color linked to chromosome 9p23 in Melanesians. 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. Additional information on the polymorphism described.
Variant description: help Associated with blond hair in individuals from the Solomon Islands; rare or absent outside of Oceania. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 93 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 537 The length of the canonical sequence.
Location on the sequence: help RPHSPQYPHDGRDDREVWPL R FFNRTCHCNGNFSGHNCGTC 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         RPHSPQYPHDGRDDREVWPLRFFNRTCHCNGNFSGHNCGTC

Mouse                         RPHSRHYPHDGKDDREAWPLRFFNRTCQCNDNFSGHNCGTC

Bovine                        RPHSHHYPHDGRDDREGWPTRSFNRTCHCNGNFSGHNCGTC

Cat                           RPHSLHYPHDGRDDREAWPTRFFNRTCRCNGNFSGHNCGTC

Chicken                       RPHGPQYIHDGRDDREQWPIRFFNQTCRCNGNFSGYNCGSC

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 25 – 537 5,6-dihydroxyindole-2-carboxylic acid oxidase
Topological domain 25 – 477 Lumenal, melanosome
Glycosylation 96 – 96 N-linked (GlcNAc...) asparagine
Glycosylation 104 – 104 N-linked (GlcNAc...) asparagine
Disulfide bond 56 – 99
Turn 86 – 94



Literature citations
Melanesian blond hair is caused by an amino acid change in TYRP1.
Kenny E.E.; Timpson N.J.; Sikora M.; Yee M.C.; Moreno-Estrada A.; Eng C.; Huntsman S.; Burchard E.G.; Stoneking M.; Bustamante C.D.; Myles S.;
Science 336:554-554(2012)
Cited for: INVOLVEMENT IN SHEP11; VARIANT CYS-93; ASSOCIATION OF VARIANT CYS-93 WITH BLOND HAIR; FUNCTION; PATHWAY;
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.