Variant position: 305 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:
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 HSVMSRTFEVLTRETVSISI RASLQQTQAVPLLMAHQYLRG
Mouse HVVVSRTFEIVSREAVSISI QASLQQTRLVPLLLAHQFLGA
Pig HTVMSRTFEVLSREPVSINI RASLQQTQIVPLLMAHQYLRA
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.
Type Positions Description
1 – 838 P protein
198 – 330 Extracellular
Organization and sequence of the human P gene and identification of a new family of transport proteins.
Lee S.-T.; Nicholls R.D.; Jong M.T.C.; Fukai K.; Spritz R.A.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 3); FUNCTION; SUBCELLULAR LOCATION; VARIANTS TRP-305; GLN-419; PHE-440; ARG-615 AND THR-722;
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 OCA2 GLY-290; ILE-443; GLU-614; LEU-617; CYS-679; CYS-720; ARG-795 AND VAL-833 DEL; VARIANTS TRP-305 AND GLN-419;
P gene as an inherited biomarker of human eye color.
Rebbeck T.R.; Kanetsky P.A.; Walker A.H.; Holmes R.; Halpern A.C.; Schuchter L.M.; Elder D.E.; Guerry D.;
Cancer Epidemiol. Biomarkers Prev. 11:782-784(2002)
Cited for: VARIANTS TRP-305 AND GLN-419; INVOLVEMENT IN DETERMINATION OF EYE COLOR;
Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.
Jannot A.-S.; Meziani R.; Bertrand G.; Gerard B.; Descamps V.; Archimbaud A.; Picard C.; Ollivaud L.; Basset-Seguin N.; Kerob D.; Lanternier G.; Lebbe C.; Saiag P.; Crickx B.; Clerget-Darpoux F.; Grandchamp B.; Soufir N.;
Eur. J. Hum. Genet. 13:913-920(2005)
Cited for: VARIANTS TRP-305 AND GLN-419; INVOLVEMENT IN SUSCEPTIBILITY TO MELANOMA;
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.