Variant position: 131 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 348 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 NLEGFFATLGGEIALWSLVV LAIERYVVVCKPMSNFRFGEN
Mouse NLEGFFATLGGEIALWSLVV LAIERYVVVCKPMSNFRFGEN
Rat NLEGFFATLGGEIGLWSLVV LAIERYVVVCKPMSNFRFGEN
Pig NLEGFFATLGGEIALWSLVV LAIERYVVVCKPMSNFRFGEN
Bovine NLEGFFATLGGEIALWSLVV LAIERYVVVCKPMSNFRFGEN
Rabbit NVEGFFATLGGEIALWSLVV LAIERYVVVCKPMSNFRFGEN
Sheep NLEGFFATLGGEIALWSLVV LAIERYVVVCKPMSNFRFGEN
Cat NLEGFFATLGGEIALWSLVV LAIERYVVVCKPMSNFRFGEN
Chicken YIEGFFATLGGEIALWSLVV LAVERYVVVCKPMSNFRFGEN
Xenopus laevis YIEGFFATLGGEVALWSLVV LAVERYIVVCKPMANFRFGEN
Zebrafish NLEGFFATLGGEMGLWSLVV LAIERWMVVCKPVSNFRFGEN
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 – 348 Rhodopsin
111 – 133 Helical; Name=3
113 – 113 Plays an important role in the conformation switch to the active conformation
110 – 187
113 – 113 E -> Q. Induces a conformation change that promotes interaction with GRK1 and SAG; when associated with Y-257.
106 – 140
Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa.
Fuchs S.; Kranich H.; Denton M.J.; Zrenner E.; Bhattacharya S.S.; Humphries P.; Gal A.;
Hum. Mol. Genet. 3:1203-1203(1994)
Cited for: VARIANTS RP4 PHE-110; PRO-131 AND VAL-164;
Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.
Souied E.; Gerber S.; Rozet J.-M.; Bonneau D.; Dufier J.-L.; Ghazi I.; Philip N.; Soubrane G.; Coscas G.; Munnich A.;
Hum. Mol. Genet. 3:1433-1434(1994)
Cited for: VARIANTS RP4 PHE-127; PRO-131; ASN-178; ARG-267 AND ARG-297;
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.