Variant position: 41 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 299 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 PSVDLMHQAVPYPSAPRKQR RERTTFTRSQLEELEALFAKT
Mouse PNVDLMHQAVPYSSAPRKQR RERTTFTRSQLEELEALFAKT
Bovine PSVDLMHPAVSYPSAPRKQR RERTTFTRSQLEELEALFAKT
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
1 – 299 Cone-rod homeobox protein
39 – 98 Homeobox
Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.
Swain P.K.; Chen S.; Wang Q.-L.; Affatigato L.M.; Coats C.L.; Brady K.D.; Fishman G.A.; Jacobson S.G.; Swaroop A.; Stone E.; Sieving P.A.; Zack D.J.;
Cited for: VARIANTS CORD2 TRP-41 AND MET-242; VARIANT RP GLN-41; VARIANT THR-158;
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.
Sohocki M.M.; Sullivan L.S.; Mintz-Hittner H.A.; Birch D.; Heckenlively J.R.; Freund C.L.; McInnes R.R.; Daiger S.P.;
Am. J. Hum. Genet. 63:1307-1315(1998)
Cited for: VARIANT RP GLN-41; VARIANT CORD2 ALA-80; VARIANT LCA7 146-LEU--PRO-149 DEL;
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.
Sohocki M.M.; Daiger S.P.; Bowne S.J.; Rodriquez J.A.; Northrup H.; Heckenlively J.R.; Birch D.G.; Mintz-Hittner H.; Ruiz R.S.; Lewis R.A.; Saperstein D.A.; Sullivan L.S.;
Hum. Mutat. 17:42-51(2001)
Cited for: VARIANTS ASP-10; ILE-66; ASP-122 AND THR-158; VARIANTS RP GLN-41 AND GLN-115;
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.