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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q04671: Variant p.Lys614Glu

P protein
Gene: OCA2
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Variant information Variant position: help 614 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 Lysine (K) to Glutamate (E) at position 614 (K614E, p.Lys614Glu). 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 (K) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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
Variant description: help In OCA2; no effect on flow of chloride ions; no effect on subcellular location; no effect on luminal pH. Any additional useful information about the variant.


Sequence information Variant position: help 614 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 838 The length of the canonical sequence.
Location on the sequence: help HRQISQEDKNWETNIQELQK K HRISDGILLAKCLTVLGFVI 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                         HRQISQEDKNWETNIQELQKKHRISDGILLAKCLTVLGFVI

Mouse                         HRQISQEDKNWETNIQELQRKHRISDRSLLVKCLTVLGFVI

Pig                           HRQISQEDKNWETNIQELQKKHRISDRTLLTKCVTVLGLVI
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 1 – 838 P protein
Topological domain 531 – 620 Cytoplasmic



Literature citations
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; An intracellular anion channel critical for pigmentation.
Bellono N.W.; Escobar I.E.; Lefkovith A.J.; Marks M.S.; Oancea E.;
Elife 3:e04543-e04543(2014)
Cited for: FUNCTION; CHANNEL ACTIVITY; CHARACTERIZATION OF VARIANTS OCA2 ILE-443 AND GLU-614; SUBCELLULAR LOCATION;
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.