Sequence information
Variant position: 86 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 350 The length of the canonical sequence.
Location on the sequence:
DCENCNIYIFDHSATVTIDD
C TNCIIFLGPVKGSVFFRNCR
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 DCENCNIYIFDHSATVTIDDC TNCIIFLGPVKGSVFFRNCR
Mouse DCENCNIYIFDHSATITIDDC TNCVIFLGPVKGSVFFRNCR
Chicken DCENCSIYIFDHSATVTIDDC VNCQIFLGPIKGSVFFRNCK
Xenopus laevis ECENCNIYIFDHSATITIDDC TNCRIFLGPVKGSVFFRDCK
Zebrafish DCENCNIFVLDHSATITIDDC VNCRIVLGPVKGSVFFRDCK
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
Chain
2 – 350
Protein XRP2
Domain
24 – 179
C-CAP/cofactor C-like
Mutagenesis
101 – 101
F -> A. Reduces affinity for mouse ARL3.
Literature citations
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 RP2 TYR-86; LEU-95; HIS-118 AND ILE-137 DEL; VARIANT TRP-282;
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.
Sharon D.; Sandberg M.A.; Rabe V.W.; Stillberger M.; Dryja T.P.; Berson E.L.;
Am. J. Hum. Genet. 73:1131-1146(2003)
Cited for: VARIANTS RP2 TYR-86; LEU-95; HIS-118 AND ILE-137 DEL; VARIANT TRP-282;
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.