Variant position: 118 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:
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 GSVFFRNCRDCKCTLACQQF RVRDCRKLEVFLCCATQPIIE
Mouse GSVFFRNCRDCKCTLACQQF RVRDCRKLEVFLCCATQPIIE
Chicken GSVFFRNCKDCKCIVACQQF RTRDCRRLEVFLCCATQPIIE
Xenopus laevis GSVFFRDCKDCKCVVACQQF RTRDCRRMDVFLCCSTQPIIE
Zebrafish GSVFFRDCKDIKCVVACQQF RTRDCKKMDVFLCCATQPIIE
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 – 350 Protein XRP2
24 – 179 C-CAP/cofactor C-like
115 – 118 GTP
101 – 101 F -> A. Reduces affinity for mouse ARL3.
115 – 115 Q -> A. Reduces affinity for mouse ARL3.
116 – 116 Q -> A. Reduces affinity and GTP-hydrolysis rate for mouse ARL3.
118 – 118 R -> A. Reduces affinity and GTP-hydrolysis rate for mouse ARL3.
120 – 120 R -> H. Reduces affinity for mouse ARL3; when associated with S-121.
121 – 121 D -> S. Reduces affinity for mouse ARL3; when associated with H-120.
106 – 121
X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.
Bader I.; Brandau O.; Achatz H.; Apfelstedt-Sylla E.; Hergersberg M.; Lorenz B.; Wissinger B.; Wittwer B.; Rudolph G.; Meindl A.; Meitinger T.;
Invest. Ophthalmol. Vis. Sci. 44:1458-1463(2003)
Cited for: VARIANTS RP2 HIS-118 AND CYS-118;
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