Variant position: 250 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 GNHRTPQLVSEIPEKVIQVA CGGEHTVVLTENAVYTFGLGQ
Mouse MNHRSPQRVLGIPERVIQVA CGGGHTVVLTEKVVYAFGLGQ
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
245 – 250
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).
Meindl A.; Dry K.L.; Herrmann K.; Manson F.D.; Ciccodicola A.; Edgar A.J.; Carvalho M.R.S.; Achatz H.; Hellebrand H.; Lennon A.A.; Migliaccio C.; Porter K.; Zrenner E.; Bird A.C.; Jay M.; Lorenz B.; Wittwer B.; D'Urso M.; Meitinger T.; Wright A.F.;
Nat. Genet. 13:35-42(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 4); VARIANTS RP3 GLN-98; VAL-215; ARG-250 AND 296-THR--ILE-300 DEL;
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
Vervoort R.; Lennon A.A.; Bird A.C.; Tulloch B.; Axton R.; Miano M.G.; Meindl A.; Meitinger T.; Ciccodicola A.; Wright A.F.;
Nat. Genet. 25:462-466(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 525-840 (ISOFORM 1); VARIANTS RP3 GLN-98 AND ARG-250;
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;
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