Variant position: 1354 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:
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 VDLADDLISDIFTTIGSVTV ALLLILLLAIVASVVTSNKRA
Mouse LDLADDRLLGIFTAVGSGTL ALFFILLLAGVASLIASNKRA
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
26 – 1406 Protein crumbs homolog 1
1348 – 1368 Helical
1294 – 1406 Missing. In isoform 4.
1336 – 1376 LADDLISDIFTTIGSVTVALLLILLLAIVASVVTSNKRATQ -> VSSLSFYVSLLFWQNLFQLLSYLILRMNDEPVVEWGEQEDY. In isoform 2.
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.
den Hollander A.I.; Heckenlively J.R.; van den Born L.I.; de Kok Y.J.M.; van der Velde-Visser S.D.; Kellner U.; Jurklies B.; van Schooneveld M.J.; Blankenagel A.; Rohrschneider K.; Wissinger B.; Cruysberg J.R.M.; Deutman A.F.; Brunner H.G.; Apfelstedt-Sylla E.; Hoyng C.B.; Cremers F.P.M.;
Am. J. Hum. Genet. 69:198-203(2001)
Cited for: VARIANTS LCA8 TYR-948 AND ARG-1100; VARIANTS RP12 CYS-433; CYS-764; HIS-837; SER-894; TYR-948; ARG-1181 AND THR-1354; VARIANTS MET-289; MET-821 AND HIS-1331;
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.