Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P14679: Variant p.Pro384Ala

Tyrosinase
Gene: TYR
Feedback?
Variant information Variant position: help 384
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Alanine (A) at position 384 (P384A, p.Pro384Ala).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to small size and hydrophobic (A)
BLOSUM score: help -1
Variant description: help In OCA1A.


Sequence information Variant position: help 384
Protein sequence length: help 529
Location on the sequence: help NALHIYMNGTMSQVQGSAND P IFLLHHAFVDSIFEQWLRRH
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 19 – 529 Tyrosinase
Topological domain 19 – 476 Lumenal, melanosome
Binding site 367 – 367
Binding site 390 – 390
Glycosylation 371 – 371 N-linked (GlcNAc...) asparagine
Alternative sequence 378 – 529 Missing. In isoform 2.



Literature citations
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
Simeonov D.R.; Wang X.; Wang C.; Sergeev Y.; Dolinska M.; Bower M.; Fischer R.; Winer D.; Dubrovsky G.; Balog J.Z.; Huizing M.; Hart R.; Zein W.M.; Gahl W.A.; Brooks B.P.; Adams D.R.;
Hum. Mutat. 34:827-835(2013)
Cited for: VARIANTS OCA1A LEU-50; TRP-77; PHE-275; TRP-298; VAL-355; HIS-364; LYS-373; ALA-384 AND ASP-490;
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.