Variant position: 138 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 RVRDCRKLEVFLCCATQPII ESSSNIKFGCFQWYYPELAFQ
Mouse RVRDCRKLEVFLCCATQPII ESSTNIKFGCFQWYYPELAAQ
Chicken RTRDCRRLEVFLCCATQPII ESSTGMKFGCFQYYYPELALQ
Xenopus laevis RTRDCRRMDVFLCCSTQPII ESSTSMKFGCFQYYYPELALQ
Zebrafish RTRDCKKMDVFLCCATQPII ESSTGMKFGCFQYYYPELAFH
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
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.
136 – 139
Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3.
Kuehnel K.; Veltel S.; Schlichting I.; Wittinghofer A.;
Cited for: X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS); INTERACTION WITH ARL3; CHARACTERIZATION OF VARIANTS RP2 HIS-118 AND GLY-138; CHARACTERIZATION OF VARIANT TRP-282;
The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3.
Veltel S.; Gasper R.; Eisenacher E.; Wittinghofer A.;
Nat. Struct. Mol. Biol. 15:373-380(2008)
Cited for: X-RAY CRYSTALLOGRAPHY (1.90 ANGSTROMS) OF 1-350 OF COMPLEX WITH MOUSE ARL3 AND GTP; FUNCTION; INTERACTION WITH ARL3; TISSUE SPECIFICITY; CHARACTERIZATION OF VARIANTS LEU-118 AND GLY-138; MUTAGENESIS OF SER-28; TRP-29; GLN-31; ARG-32; PHE-101; GLN-115; GLN-116; ARG-118; ARG-120 AND PHE-177;
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.
Miano M.G.; Testa F.; Filippini F.; Trujillo M.; Conte I.; Lanzara C.; Millan J.M.; De Bernardo C.; Grammatico B.; Mangino M.; Torrente I.; Carrozzo R.; Simonelli F.; Rinaldi E.; Ventruto V.; D'Urso M.; Ayuso C.; Ciccodicola A.;
Hum. Mutat. 18:109-119(2001)
Cited for: VARIANTS RP2 LEU-118 AND GLY-138; VARIANT TRP-282;
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