UniProtKB/Swiss-Prot P82251 : Variant p.Gly195Arg
b(0,+)-type amino acid transporter 1
Gene: SLC7A9
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Variant information
Variant position:
195
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
LP/P [Disclaimer : Variants classification is intended for research purposes only, not for clinical and diagnostic use . The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant. ]
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 Glycine (G) to Arginine (R) at position 195 (G195R, p.Gly195Arg).
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 glycine (G) to large size and basic (R)
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 CSNU; type III; decreased amino acid transport activity.
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
195
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
487
The length of the canonical sequence.
Location on the sequence:
YVQNIFTAAKLVIVAIIIIS
G LVLLAQGNTKNFDNSFEGAQ
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 YVQNIFTAAKLVIVAIIIISG LVLLAQGNTKNFDNSFEGAQ
Mouse YVQNVFTAAKMVIVAIIIISG LVFLAQGNVKNFQNSFEGTQ
Rat YVQNVFTAAKLVIVAIIIISG LVLLAQGNVKNFQNSFEGSQ
Rabbit YVQNFFTAAKLVIVAIIIISG LVLLAQGNTKNFENSFEGAE
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 – 487
b(0,+)-type amino acid transporter 1
Topological domain
194 – 217
Extracellular
Helix
177 – 200
Literature citations
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b0,+AT) of rBAT.
Feliubadalo L.; Font M.; Purroy J.; Rousaud F.; Estivill X.; Nunes V.; Golomb E.; Centola M.; Aksentijevich I.; Kreiss Y.; Goldman B.; Pras M.; Kastner D.L.; Pras E.; Gasparini P.; Bisceglia L.; Beccia E.; Gallucci M.; De Sanctis L.; Ponzone A.; Rizzoni G.F.; Zelante L.; Bassi M.T.; George A.L. Jr.; Manzoni M.; De Grandi A.; Riboni M.; Endsley J.K.; Ballabio A.; Borsani G.; Reig N.; Fernandez E.; Estevez R.; Pineda M.; Torrents D.; Camps M.; Lloberas J.; Zorzano A.; Palacin M.;
Nat. Genet. 23:52-57(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS CSNU ARG-105; MET-170; THR-182; ARG-195 AND ARG-259; CHARACTERIZATION OF VARIANT CSNU MET-170; FUNCTION; TISSUE SPECIFICITY;
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-type I cystinuria.
Font M.; Feliubadalo L.; Estivill X.; Nunes V.; Golomb E.; Kreiss Y.; Pras E.; Bisceglia L.; d'Adamo A.P.; Zelante L.; Gasparini P.; Bassi M.T.; George A.L. Jr.; Manzoni M.; Riboni M.; Ballabio A.; Borsani G.; Reig N.; Fernandez E.; Zorzano A.; Bertran J.; Palacin M.;
Hum. Mol. Genet. 10:305-316(2001)
Cited for: VARIANTS CSNU ARG-10 DEL; LEU-52; ARG-63; LEU-69; VAL-70; ARG-105; MET-123; THR-126; ALA-158 INS; MET-170; THR-182; PHE-187; ILE-193 INS; ARG-195; ARG-230; THR-241; GLU-244 DEL; ARG-259; TRP-333; THR-354; ARG-379 AND THR-382; CHARACTERIZATION OF VARIANTS CSNU VAL-70; ARG-105; MET-170; THR-182; TRP-333 AND THR-354;
A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.
Shigeta Y.; Kanai Y.; Chairoungdua A.; Ahmed N.; Sakamoto S.; Matsuo H.; Kim D.K.; Fujimura M.; Anzai N.; Mizoguchi K.; Ueda T.; Akakura K.; Ichikawa T.; Ito H.; Endou H.;
Kidney Int. 69:1198-1206(2006)
Cited for: VARIANTS CSNU ARG-195; ASP-227; GLN-333 AND LEU-482; CHARACTERIZATION OF VARIANTS CSNU ARG-195; ASP-227; GLN-333 AND LEU-482; VARIANTS ALA-142 AND MET-223; CHARACTERIZATION OF VARIANTS ALA-142 AND MET-223; FUNCTION; SUBCELLULAR LOCATION; MUTAGENESIS OF PRO-482;
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.