Variant position: 368 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 533 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 ENWEEVKKNARKAPQPEVRR YVLPLNIDKADTGKNLVTLPN
Mouse ENWEEVKRNAMKAPQPEVRR YVLPLTIDKVDTGRNLVTLPH
Rat ENWEEVKRNAMKAPQPEVRR YVLPLTIDKADTGRNLVTLPH
Bovine ENWEEVKKNARKAPQPEVRR YVLPLNIDKADTGKNLVTLPN
Chicken ANWDEVKKQAEKAPQPEARR YVLPLRIDKADTGKNLVTLPY
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
2 – 533 Retinoid isomerohydrolase
A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population.
Yzer S.; van den Born L.I.; Schuil J.; Kroes H.Y.; van Genderen M.M.; Boonstra F.N.; van den Helm B.; Brunner H.G.; Koenekoop R.K.; Cremers F.P.;
J. Med. Genet. 40:709-713(2003)
Cited for: VARIANT RP20 HIS-368;
Next-generation genetic testing for retinitis pigmentosa.
Neveling K.; Collin R.W.; Gilissen C.; van Huet R.A.; Visser L.; Kwint M.P.; Gijsen S.J.; Zonneveld M.N.; Wieskamp N.; de Ligt J.; Siemiatkowska A.M.; Hoefsloot L.H.; Buckley M.F.; Kellner U.; Branham K.E.; den Hollander A.I.; Hoischen A.; Hoyng C.; Klevering B.J.; van den Born L.I.; Veltman J.A.; Cremers F.P.; Scheffer H.;
Hum. Mutat. 33:963-972(2012)
Cited for: VARIANTS RP20 VAL-70; TRP-91; ASP-239 AND HIS-368;
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.