Sequence information
Variant position: 584 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1406 The length of the canonical sequence.
Location on the sequence:
DGEWHFVEVIFAEAVTLTLI
D DSCKEKCIAKAPTPLESDQS
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human DGEWHFVEVIFAEAVTLTLID DSCKEKCIAKAPTPLESDQS
Mouse DGEWHFVEVTIAETLTLALVG GSCKEKCTTKSSVPVENHQS
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
26 – 1406
Protein crumbs homolog 1
Topological domain
26 – 1347
Extracellular
Domain
485 – 670
Laminin G-like 1
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;
CRB1 mutations in inherited retinal dystrophies.
Bujakowska K.; Audo I.; Mohand-Said S.; Lancelot M.E.; Antonio A.; Germain A.; Leveillard T.; Letexier M.; Saraiva J.P.; Lonjou C.; Carpentier W.; Sahel J.A.; Bhattacharya S.S.; Zeitz C.;
Hum. Mutat. 33:306-315(2012)
Cited for: INVOLVEMENT IN RETINAL DYSTROPHIES; VARIANTS RP12 TYR-584; PHE-740; THR-741; THR-836; TYR-948 AND ARG-1103; VARIANTS EARLY-ONSET RETINAL DYSTROPHY ASN-789 DEL; CYS-1198 AND SER-1223;
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.