UniProtKB/Swiss-Prot Q92834: Variant p.Arg425Lys

X-linked retinitis pigmentosa GTPase regulator
Gene: RPGR
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Variant information Variant position:

425 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Arginine (R) to Lysine (K) at position 425 (R425K, p.Arg425Lys). 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:

Similar physico-chemical property. Both residues are large size and basic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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
Other resources:

Links to websites of interest for the variant.

Variant rs1801687 [ dbSNP | Ensembl ]

Sequence information Variant position:

425 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:

TLSARMRRRERERSPDSFSM R RTLPPIEGTLGLSACFLPNS 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                         TLSARMRRRERERSPDSFSMRRTLPPIEGTLGL-SACFLPNS

                              TLSARVRRREREKSPDSFQMTRTLPPIDGIPMP-PVCFSPS

Mouse                         SLSARLRRRERERPPCSASMVGTLPPLEGTSASTSAYFYPS

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
Chain	1 – 1017	X-linked retinitis pigmentosa GTPase regulator
Modified residue	418 – 418	Phosphoserine

Literature citations
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.
Buraczynska M.; Wu W.; Fujita R.; Buraczynska K.; Phelps E.; Andreasson S.; Bennett J.; Birch D.G.; Fishman G.A.; Hoffman D.R.; Inana G.; Jacobson S.G.; Musarella M.A.; Sieving P.A.; Swaroop A.;
Am. J. Hum. Genet. 61:1287-1292(1997)
Cited for: VARIANTS RP3 VAL-60; VAL-75 AND GLY-262; VARIANTS LYS-425; VAL-431 AND GLU-566; Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus.
Zito I.; Thiselton D.L.; Gorin M.B.; Stout J.T.; Plant C.; Bird A.C.; Bhattacharya S.S.; Hardcastle A.J.;
Hum. Genet. 105:57-62(1999)
Cited for: VARIANTS ILE-76; LYS-425 AND GLU-566; Sequence variation within the RPGR gene: evidence for a founder complex allele.
Zito I.; Morris A.; Tyson P.; Winship I.; Sharp D.; Gilbert D.; Thiselton D.L.; Bhattacharya S.S.; Hardcastle A.J.;
Hum. Mutat. 16:273-274(2000)
Cited for: VARIANTS LYS-425; GLN-526 DEL; MET-533 AND GLU-566; X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.
Sharon D.; Bruns G.A.P.; McGee T.L.; Sandberg M.A.; Berson E.L.; Dryja T.P.;
Invest. Ophthalmol. Vis. Sci. 41:2712-2721(2000)
Cited for: VARIANTS RP3 ARG-43; GLU-43; VAL-60; GLY-127; TYR-302 AND ASP-436; VARIANTS ASP-345; LYS-425; VAL-431 AND GLU-566;

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.