Variant position: 60 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1020 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 LSCGDEHSAVVTGNNKLYMF GSNNWGQLGLGSKSAISKPTC
Mouse LSCGDEHTAIVTGNNKLYMF GSNNWGQLGLGSKAAIIKPTC
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 – 1017 X-linked retinitis pigmentosa GTPase regulator
54 – 105 RCC1 1
56 – 61
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.
Buraczynska M.; Wu W.; Fujita R.; Buraczynska K.; Phelps E.; Andreasson S.; Bennett J.; Birch D.G.; Fishman G.A.; Hoffman D.R.; Inana G.; Jacobson S.G.; Musarella M.A.; Sieving P.A.; Swaroop A.;
Am. J. Hum. Genet. 61:1287-1292(1997)
Cited for: VARIANTS RP3 VAL-60; VAL-75 AND GLY-262; VARIANTS LYS-425; VAL-431 AND GLU-566;
X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.
Fishman G.A.; Grover S.; Jacobson S.G.; Alexander K.R.; Derlacki D.J.; Wu W.; Buraczynska M.; Swaroop A.;
Cited for: VARIANT RP3 VAL-60;
X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.
Sharon D.; Bruns G.A.P.; McGee T.L.; Sandberg M.A.; Berson E.L.; Dryja T.P.;
Invest. Ophthalmol. Vis. Sci. 41:2712-2721(2000)
Cited for: VARIANTS RP3 ARG-43; GLU-43; VAL-60; GLY-127; TYR-302 AND ASP-436; VARIANTS ASP-345; LYS-425; VAL-431 AND GLU-566;
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.