Variant position: 1100 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 IYVGDRAIDNIKGLQGCLST IEIGGIYLSYFENVHGFINKP
Mouse IYVGDQSVDNPKGLQGCLST IEIGGIYLSYFENLHGFPGKP
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.
Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa.
Bernal S.; Calaf M.; Garcia-Hoyos M.; Garcia-Sandoval B.; Rosell J.; Adan A.; Ayuso C.; Baiget M.;
J. Med. Genet. 40:E89-E89(2003)
Cited for: VARIANTS RP12 SER-749 DEL; GLY-891; TYR-948; LEU-962 DEL AND THR-1100; VARIANT LCA8 THR-205; VARIANTS MET-289; GLU-679; HIS-769 AND HIS-1331;
CRB1 mutation spectrum in inherited retinal dystrophies.
den Hollander A.I.; Davis J.; van der Velde-Visser S.D.; Zonneveld M.N.; Pierrottet C.O.; Koenekoop R.K.; Kellner U.; van den Born L.I.; Heckenlively J.R.; Hoyng C.B.; Handford P.A.; Roepman R.; Cremers F.P.M.;
Hum. Mutat. 24:355-369(2004)
Cited for: VARIANTS RP12 PHE-195; GLU-578; TYR-587; MET-745; CYS-764; THR-836; SER-850; TYR-948; SER-959; ILE-986; THR-1100 AND HIS-1383; VARIANT LCA8 THR-205; VARIANT GLN-905;
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.