Variant position: 17 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 MNGTEGPNFYVPFSNA TGVVRSPFEYPQYYLAEPWQF
Mouse MNGTEGPNFYVPFSNV TGVVRSPFEQPQYYLAEPWQF
Rat MNGTEGPNFYVPFSNI TGVVRSPFEQPQYYLAEPWQF
Pig MNGTEGPNFYVPFSNK TGVVRSPFEYPQYYLAEPWQF
Bovine MNGTEGPNFYVPFSNK TGVVRSPFEAPQYYLAEPWQF
Rabbit MNGTEGPDFYIPMSNQ TGVVRSPFEYPQYYLAEPWQF
Sheep MNGTEGPNFYVPFSNK TGVVRSPFEAPQYYLAEPWQF
Cat MNGTEGPNFYVPFSNK TGVVRSPFEYPQYYLAEPWQF
Chicken MNGTEGQDFYVPMSNK TGVVRSPFEYPQYYLAEPWKF
Xenopus laevis MNGTEGPNFYVPMSNK TGVVRSPFDYPQYYLAEPWQY
Zebrafish MNGTEGPAFYVPMSNA TGVVRSPYEYPQYYLVAPWAY
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
1 – 36 Extracellular
1 – 1 N-acetylmethionine
2 – 2 N-linked (GlcNAc...) asparagine
15 – 15 N-linked (GlcNAc...) asparagine
16 – 18
Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis.
Sheffield V.C.; Fishman G.A.; Beck J.S.; Kimura A.E.; Stone E.M.;
Am. J. Hum. Genet. 49:699-706(1991)
Cited for: VARIANTS RP4 MET-17; HIS-23; ARG-58; SER-182 AND LEU-267;
Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP).
Fujiki K.; Hotta Y.; Hayakawa M.; Sakuma H.; Shiono T.; Noro M.; Sakuma T.; Tamai M.; Hikiji K.; Kawaguchi R.; Hoshi A.; Nakajima A.; Kanai A.;
Jpn. J. Hum. Genet. 37:125-132(1992)
Cited for: VARIANTS RP4 MET-17 AND LEU-347;
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.