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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04001: Variant p.Trp177Arg

Medium-wave-sensitive opsin 1
Gene: OPN1MW
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Variant information Variant position: help 177
Type of variant: help LP/P [Disclaimer]
Residue change: help From Tryptophan (W) to Arginine (R) at position 177 (W177R, p.Trp177Arg).
Physico-chemical properties: help Change from large size and aromatic (W) to large size and basic (R)
BLOSUM score: help -3
Variant description: help In COD5; results in protein misfolding and retention in the endoplasmic reticulum.
Other resources: help


Sequence information Variant position: help 177
Protein sequence length: help 364
Location on the sequence: help KPFGNVRFDAKLAIVGIAFS W IWAAVWTAPPIFGWSRYWPH
Residue conservation: help 
Human                         KPFGNVRFDAKLAIVGIAFSWIWAAVWTAPPIFGWSRYWPH

Mouse                         KPFGNVRFDAKLATVGIVFSWVWAAIWTAPPIFGWSRYWPY

Rat                           KPFGNVRFDAKLATVGIVFSWVWAAVWTAPPIFGWSRYWPY

Rabbit                        KPFGNVRFDAKLAIAGIAFSWIWAAVWTAPPIFGWSRYWPY

Chicken                       KPMGNFRFSATHAMMGIAFTWVMAFSCAAPPLFGWSRYMPE
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 364 Medium-wave-sensitive opsin 1
Transmembrane 169 – 192 Helical; Name=4
Disulfide bond 126 – 203



Literature citations
X-linked cone dystrophy caused by mutation of the red and green cone opsins.
Gardner J.C.; Webb T.R.; Kanuga N.; Robson A.G.; Holder G.E.; Stockman A.; Ripamonti C.; Ebenezer N.D.; Ogun O.; Devery S.; Wright G.A.; Maher E.R.; Cheetham M.E.; Moore A.T.; Michaelides M.; Hardcastle A.J.;
Am. J. Hum. Genet. 87:26-39(2010)
Cited for: VARIANT COD5 ARG-177; CHARACTERIZATION OF VARIANT COD5 ARG-177; SUBCELLULAR LOCATION;
Disclaimer: 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.