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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P82279: Variant p.Cys1218Phe

Protein crumbs homolog 1
Gene: CRB1
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Variant information Variant position: help 1218
Type of variant: help LP/P [Disclaimer]
Residue change: help From Cysteine (C) to Phenylalanine (F) at position 1218 (C1218F, p.Cys1218Phe).
Physico-chemical properties: help Change from medium size and polar (C) to large size and aromatic (F)
BLOSUM score: help -2
Variant description: help In LCA8.
Other resources: help


Sequence information Variant position: help 1218
Protein sequence length: help 1406
Location on the sequence: help YHCTCEPGYTGVNCEVDIDN C QSHQCANGATCISHTNGYSC
Residue conservation: help
Human                         YHCTCEPGYTGVNCEVDIDNCQSHQCANGATCISHTNGYSC

Mouse                         YHCRCEPGYTGVNCEVDVDNCKSHQCANGATCVPEAHGYSC

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 26 – 1406 Protein crumbs homolog 1
Topological domain 26 – 1347 Extracellular
Domain 1214 – 1250 EGF-like 17
Disulfide bond 1218 – 1229
Alternative sequence 710 – 1245 Missing. In isoform 5.



Literature citations
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination.
Jacobson S.G.; Cideciyan A.V.; Aleman T.S.; Pianta M.J.; Sumaroka A.; Schwartz S.B.; Smilko E.E.; Milam A.H.; Sheffield V.C.; Stone E.M.;
Hum. Mol. Genet. 12:1073-1078(2003)
Cited for: VARIANTS LCA8 SER-749 DEL; CYS-764; TYR-948 AND PHE-1218;
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.