Variant position: 109 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 GGFTSTLYTSLHGYFVFGPT GCNLEGFFATLGGEIALWSLV
Mouse GGFTTTLYTSLHGYFVFGPT GCNLEGFFATLGGEIALWSLV
Rat GGFTTTLYTSLHGYFVFGPT GCNLEGFFATLGGEIGLWSLV
Pig GGFTTTLYTSLHGYFVFGPT GCNLEGFFATLGGEIALWSLV
Bovine GGFTTTLYTSLHGYFVFGPT GCNLEGFFATLGGEIALWSLV
Rabbit GGFTTTLYTSLHGYFVFGPT GCNVEGFFATLGGEIALWSLV
Sheep GGFTTTLYTSLHGYFVFGPT GCNLEGFFATLGGEIALWSLV
Cat GGFTTTLYTSLHGYFVFGPT GCNLEGFFATLGGEIALWSLV
Chicken GGFTTTMYTSMNGYFVFGVT GCYIEGFFATLGGEIALWSLV
Xenopus laevis CGFTVTMYTSMHGYFIFGPT GCYIEGFFATLGGEVALWSLV
Zebrafish GGFTTTMYTSLHGYFVFGRL GCNLEGFFATLGGEMGLWSLV
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
97 – 110 Extracellular
113 – 113 Plays an important role in the conformation switch to the active conformation
113 – 113 E -> Q. Induces a conformation change that promotes interaction with GRK1 and SAG; when associated with Y-257.
106 – 140
Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa.
Goliath R.; Bardien S.; September A.; Martin R.; Ramesar R.; Greenberg J.;
Hum. Mutat. Suppl. 1:S40-S41(1998)
Cited for: VARIANT RP4 ARG-109;
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.