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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P14679: Variant p.Phe439Val

Tyrosinase
Gene: TYR
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Variant information Variant position: help 439
Type of variant: help LP/P [Disclaimer]
Residue change: help From Phenylalanine (F) to Valine (V) at position 439 (F439V, p.Phe439Val).
Physico-chemical properties: help Change from large size and aromatic (F) to medium size and hydrophobic (V)
BLOSUM score: help -1
Variant description: help In OCA1A.
Other resources: help


Sequence information Variant position: help 439
Protein sequence length: help 529
Location on the sequence: help GHNRESYMVPFIPLYRNGDF F ISSKDLGYDYSYLQDSDPDS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 19 – 529 Tyrosinase
Topological domain 19 – 476 Lumenal, melanosome
Alternative sequence 378 – 529 Missing. In isoform 2.



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 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;
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.