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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P82279: Variant p.Cys948Arg

Protein crumbs homolog 1
Gene: CRB1
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Variant information Variant position: help 948
Type of variant: help LP/P [Disclaimer]
Residue change: help From Cysteine (C) to Arginine (R) at position 948 (C948R, p.Cys948Arg).
Physico-chemical properties: help Change from medium size and polar (C) to large size and basic (R)
BLOSUM score: help -3
Variant description: help In LCA8.
Other resources: help


Sequence information Variant position: help 948
Protein sequence length: help 1406
Location on the sequence: help CGFSPCPHGAQCQPVLQGFE C IANAVFNGQSGQILFRSNGN
Residue conservation: help 
Human                         CGFSPCPHGAQCQPVLQGFECIANAVFNGQSGQILFRSNGN

Mouse                         CQLSPCPPTAECQLLPQGFECIANAVFSGLSREILFRSNGN
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 26 – 1406 Protein crumbs homolog 1
Topological domain 26 – 1347 Extracellular
Domain 924 – 960 EGF-like 14
Glycosylation 968 – 968 N-linked (GlcNAc...) asparagine
Disulfide bond 933 – 948
Alternative sequence 710 – 1245 Missing. In isoform 5.



Literature citations
The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.
Motta F.L.; Salles M.V.; Costa K.A.; Filippelli-Silva R.; Martin R.P.; Sallum J.M.F.;
Sci. Rep. 7:8654-8654(2017)
Cited for: INVOLVEMENT IN RETINAL DYSTROPHIES; VARIANTS LCA8 328-TRP--ILE-1406 DEL; ARG-948; TYR-948 AND 1226-GLY--ILE-1406 DEL; VARIANTS EARLY-ONSET RETINAL DYSTROPHY HIS-764 AND 1390-ARG--ILE-1406 DEL; VARIANTS RP12 THR-836 AND ARG-1107; VARIANTS PRO-479; PRO-921 AND ASN-1031;
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.