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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92834: Variant p.Cys250Arg

X-linked retinitis pigmentosa GTPase regulator
Gene: RPGR
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Variant information Variant position: help 250 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Cysteine (C) to Arginine (R) at position 250 (C250R, p.Cys250Arg). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (C) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In RP3; reduces interaction with PDE6D. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 250 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1020 The length of the canonical sequence.
Location on the sequence: help GNHRTPQLVSEIPEKVIQVA C GGEHTVVLTENAVYTFGLGQ 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         GNHRTPQLVSEIPEKVIQVACGGEHTVVLTENAVYTFGLGQ

                              VNHRMPQPVPGIPGKVVQVACGGGHTVVLTEKAVYTFGLGQ

Mouse                         MNHRSPQRVLGIPERVIQVACGGGHTVVLTEKVVYAFGLGQ
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 1017 X-linked retinitis pigmentosa GTPase regulator
Repeat 209 – 261 RCC1 4
Beta strand 245 – 250



Literature citations
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;
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.