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UniProtKB/Swiss-Prot O75695: Variant p.Arg118Leu

Protein XRP2
Gene: RP2
Variant information

Variant position:  118
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Arginine (R) to Leucine (L) at position 118 (R118L, p.Arg118Leu).
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:  Change from large size and basic (R) to medium size and hydrophobic (L)
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

Variant description:  In RP2.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  118
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:   GSVFFRNCRDCKCTLACQQF  R VRDCRKLEVFLCCATQPIIE
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                         GSVFFRNCRDCKCTLACQQFRVRDCRKLEVFLCCATQPIIE

Mouse                         GSVFFRNCRDCKCTLACQQFRVRDCRKLEVFLCCATQPIIE

Chicken                       GSVFFRNCKDCKCIVACQQFRTRDCRRLEVFLCCATQPIIE

Xenopus laevis                GSVFFRDCKDCKCVVACQQFRTRDCRRMDVFLCCSTQPIIE

Zebrafish                     GSVFFRDCKDIKCVVACQQFRTRDCKKMDVFLCCATQPIIE

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.

TypePositionsDescription
Chain 2 – 350 Protein XRP2
Domain 24 – 179 C-CAP/cofactor C-like
Binding site 115 – 118
Mutagenesis 101 – 101 F -> A. Reduces affinity for mouse ARL3.
Mutagenesis 115 – 115 Q -> A. Reduces affinity for mouse ARL3.
Mutagenesis 116 – 116 Q -> A. Reduces affinity and GTP-hydrolysis rate for mouse ARL3.
Mutagenesis 118 – 118 R -> A. Reduces affinity and GTP-hydrolysis rate for mouse ARL3.
Mutagenesis 120 – 120 R -> H. Reduces affinity for mouse ARL3; when associated with S-121.
Mutagenesis 121 – 121 D -> S. Reduces affinity for mouse ARL3; when associated with H-120.
Beta strand 106 – 121


Literature citations

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;

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.