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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P82279: Variant p.Leu1107Arg

Protein crumbs homolog 1
Gene: CRB1
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Variant information Variant position: help 1107
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Arginine (R) at position 1107 (L1107R, p.Leu1107Arg).
Physico-chemical properties: help Change from medium size and hydrophobic (L) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In LCA8 and RP12.
Other resources: help


Sequence information Variant position: help 1107
Protein sequence length: help 1406
Location on the sequence: help IDNIKGLQGCLSTIEIGGIY L SYFENVHGFINKPQEEQFLK
Residue conservation: help 
Human                         IDNIKGLQGCLSTIEIGGIYLSYFENVHGFINKPQEEQFLK

Mouse                         VDNPKGLQGCLSTIEIGGIYLSYFENLHGFPGKPQEEQFLK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 26 – 1406 Protein crumbs homolog 1
Topological domain 26 – 1347 Extracellular
Domain 950 – 1137 Laminin G-like 3
Disulfide bond 1096 – 1137
Alternative sequence 710 – 1245 Missing. In isoform 5.



Literature citations
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Hanein S.; Perrault I.; Gerber S.; Tanguy G.; Barbet F.; Ducroq D.; Calvas P.; Dollfus H.; Hamel C.; Lopponen T.; Munier F.; Santos L.; Shalev S.; Zafeiriou D.; Dufier J.-L.; Munnich A.; Rozet J.-M.; Kaplan J.;
Hum. Mutat. 23:306-317(2004)
Cited for: VARIANTS LCA8 TYR-584; GLN-710; THR-741; MET-745; CYS-764; THR-852; TYR-948; ILE-1025; ARG-1103; ARG-1107; PRO-1107 AND SER-1321; 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.