Variant position: 235 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 GEPENGKLGLPNQLLGNHRT PQLVSEIPEKVIQVACGGEHT
Mouse GEPENGKLGLPNELLMNHRS PQRVLGIPERVIQVACGGGHT
Dog GEPECGKLGLPNQLLVNHRM PQPVPGIPGKVVQVACGGGHT
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
209 – 261 RCC1 4
Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1.
Roepman R.; van Duijnhoven G.; Rosenberg T.; Pinckers A.J.L.G.; Bleeker-Wagemakers L.M.; Bergen A.A.B.; Post J.; Beck A.; Reinhardt R.; Ropers H.-H.; Cremers F.; Berger W.;
Hum. Mol. Genet. 5:1035-1041(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANTS RP3 CYS-130; SER-235 AND SER-275;
The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase.
Linari M.; Ueffing M.; Manson F.; Wright A.; Meitinger T.; Becker J.;
Proc. Natl. Acad. Sci. U.S.A. 96:1315-1320(1999)
Cited for: INTERACTION WITH PDE6D; CHARACTERIZATION OF RP3 VARIANTS GLN-98; CYS-130; VAL-215; SER-235; ARG-250 AND SER-275; MUTAGENESIS OF VAL-36;
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.