Variant position: 250 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 SQPCLNGATCQDALGAYFCD CAPGFLGDHCELNTDECASQP
Mouse SQPCLHGATCQDAPGGYSCD CAPGFLGEHCELSVNECESQP
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
26 – 1347 Extracellular
224 – 260 EGF-like 6; calcium-binding
250 – 259
1 – 351 Missing. In isoform 4.
218 – 329 Missing. In isoform 3.
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
den Hollander A.I.; ten Brink J.B.; de Kok Y.J.M.; van Soest S.; van den Born L.I.; van Driel M.A.; van de Pol D.J.R.; Payne A.M.; Bhattacharya S.S.; Kellner U.; Hoyng C.B.; Westerveld A.; Brunner H.G.; Bleeker-Wagemakers E.M.; Deutman A.F.; Heckenlively J.R.; Cremers F.P.M.; Bergen A.A.B.;
Nat. Genet. 23:217-221(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANTS RP12 VAL-161; TRP-250; MET-745; CYS-764; TYR-948; THR-1041 AND PRO-1071;
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.
Henderson R.H.; Mackay D.S.; Li Z.; Moradi P.; Sergouniotis P.; Russell-Eggitt I.; Thompson D.A.; Robson A.G.; Holder G.E.; Webster A.R.; Moore A.T.;
Br. J. Ophthalmol. 95:811-817(2011)
Cited for: VARIANTS RP12 SER-157; TRP-250; LYS-312; CYS-675; VAL-710; MET-745; CYS-764; THR-836; ARG-846; TYR-948; SER-1012; ASN-1025 AND GLY-1174; VARIANTS LCA8 SER-850; THR-1003; ARG-1103; PRO-1107; GLY-1174 AND LEU-1381; VARIANTS EARLY-ONSET RETINAL DYSTROPHY THR-741 AND ASP-1365; VARIANT THR-205;
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.