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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P82279: Variant p.Cys383Tyr

Protein crumbs homolog 1
Gene: CRB1
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Variant information Variant position: help 383
Type of variant: help LP/P [Disclaimer]
Residue change: help From Cysteine (C) to Tyrosine (Y) at position 383 (C383Y, p.Cys383Tyr).
Physico-chemical properties: help Change from medium size and polar (C) to large size and aromatic (Y)
BLOSUM score: help -2
Variant description: help In LCA8.
Other resources: help


Sequence information Variant position: help 383
Protein sequence length: help 1406
Location on the sequence: help YGRITGLPSSFSYHEASGYV C ICQPGFTGIHCEEDVNECSS
Residue conservation: help 
Human                         YGRITGLPSSFSYHEASGYVCICQPGFTGIHCEEDVNECSS

Mouse                         YGNTAGLPSSFSYVGASGYVCICQPGFTGIHCEEDVDECLL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 26 – 1406 Protein crumbs homolog 1
Topological domain 26 – 1347 Extracellular
Domain 339 – 395 EGF-like 9
Disulfide bond 348 – 383
Alternative sequence 352 – 390 GECVELSSEKQYGRITGLPSSFSYHEASGYVCICQPGFT -> MIRNSLCQPSRCLDEYLFFNRKMFGARTHGFHILMAMLI. In isoform 4.



Literature citations
Mutations in the CRB1 gene cause Leber congenital amaurosis.
Lotery A.J.; Jacobson S.G.; Fishman G.A.; Weleber R.G.; Fulton A.B.; Namperumalsamy P.; Heon E.; Levin A.V.; Grover S.; Rosenow J.R.; Kopp K.K.; Sheffield V.C.; Stone E.M.;
Arch. Ophthalmol. 119:415-420(2001)
Cited for: VARIANTS LCA8 VAL-144; TYR-383; GLY-480; ARG-480; TYR-681; CYS-764; TYR-948; ARG-1205 AND HIS-1317; VARIANTS MET-289; GLN-769 AND HIS-1331;
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.