Variant position: 94 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 YILLNLAVADLFMVLGGFTS TLYTSLHGYFVFGPTGCNLEG
Mouse YILLNLAVADLFMVFGGFTT TLYTSLHGYFVFGPTGCNLEG
Rat YILLNLAVADLFMVFGGFTT TLYTSLHGYFVFGPTGCNLEG
Pig YILLNLAVADLFMVFGGFTT TLYTSLHGYFVFGPTGCNLEG
Bovine YILLNLAVADLFMVFGGFTT TLYTSLHGYFVFGPTGCNLEG
Rabbit YILLNLAVADLFMVLGGFTT TLYTSLHGYFVFGPTGCNVEG
Sheep YILLNLAVADLFMVFGGFTT TLYTSLHGYFVFGPTGCNLEG
Cat YILLNLAVADLFMVFGGFTT TLYTSLHGYFVFGPTGCNLEG
Chicken YILLNLVVADLFMVFGGFTT TMYTSMNGYFVFGVTGCYIEG
Xenopus laevis YILLNLVFANHFMVLCGFTV TMYTSMHGYFIFGPTGCYIEG
Zebrafish YILLNLAIADLFMVFGGFTT TMYTSLHGYFVFGRLGCNLEG
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
74 – 96 Helical; Name=2
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.
90 – 100
A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness.
Al-Jandal N.; Farrar G.J.; Kiang A.-S.; Humphries M.M.; Bannon N.; Findlay J.B.C.; Humphries P.; Kenna P.F.;
Hum. Mutat. 13:75-81(1999)
Cited for: VARIANT CSNBAD1 ILE-94;
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.