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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P14679: Variant p.Thr155Ser

Tyrosinase
Gene: TYR
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Variant information Variant position: help 155
Type of variant: help LP/P [Disclaimer]
Residue change: help From Threonine (T) to Serine (S) at position 155 (T155S, p.Thr155Ser).
Physico-chemical properties: help Change from medium size and polar (T) to small size and polar (S)
BLOSUM score: help 1
Variant description: help In OCA1A.


Sequence information Variant position: help 155
Protein sequence length: help 529
Location on the sequence: help FAYLTLAKHTISSDYVIPIG T YGQMKNGSTPMFNDINIYDL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 19 – 529 Tyrosinase
Topological domain 19 – 476 Lumenal, melanosome
Glycosylation 161 – 161 N-linked (GlcNAc...) asparagine



Literature citations
Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.
Opitz S.; Kaesmann-Kellner B.; Kaufmann M.; Schwinger E.; Zuehlke C.;
Hum. Mutat. 23:630-631(2004)
Cited for: VARIANTS OCA1A ARG-44; GLY-44; ASP-47; VAL-47; HIS-68; GLN-77; LEU-79; LEU-81; SER-155; PHE-177; LEU-179; ASN-180; ASN-199; SER-201; SER-217; LEU-236; VAL-240; THR-243; TYR-256; ARG-289; GLU-318; PRO-329; THR-332; GLY-345; PRO-355; LYS-373; LYS-378; ASN-383; PHE-393; ARG-395; VAL-398; ALA-398; LEU-402; SER-403; ASN-404; LEU-405; LEU-406; HIS-408; ASP-409; SER-416; HIS-417; ARG-419; GLN-422; PHE-424; LYS-426; GLY-427; ILE-434; ASP-435; GLY-444 AND ASN-448; 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.