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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P82251: Variant p.Gly105Arg

b(0,+)-type amino acid transporter 1
Gene: SLC7A9
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Variant information Variant position: help 105 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 Glycine (G) to Arginine (R) at position 105 (G105R, p.Gly105Arg). 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 glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In CSNU; type III; severe loss of amino acid transport activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 105 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 487 The length of the canonical sequence.
Location on the sequence: help ELGTMITKSGGEYPYLMEAY G PIPAYLFSWASLIVIKPTSF 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                         ELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSF

Mouse                         ELGTMITKSGGEYPYLMEAFGPIPAYLFSWTSLIVMKPSSF

Rat                           ELGTMITKSGGEYPYLMEAFGPIPAYLFSWTSLIVMKPSSF

Rabbit                        ELGTMITKSGGEYPYLMEAFGPIPAYLFSWSSLLVMKPSSF
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 – 487 b(0,+)-type amino acid transporter 1
Topological domain 85 – 110 Cytoplasmic



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; Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.
Botzenhart E.; Vester U.; Schmidt C.; Hesse A.; Halber M.; Wagner C.; Lang F.; Hoyer P.; Zerres K.; Eggermann T.;
Kidney Int. 62:1136-1142(2002)
Cited for: VARIANTS CSNU ARG-105; VAL-224 AND VAL-331; Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.
Skopkova Z.; Hrabincova E.; Stastna S.; Kozak L.; Adam T.;
Ann. Hum. Genet. 69:501-507(2005)
Cited for: VARIANTS CSNU ARG-105; MET-123; ARG-319 AND TRP-333; Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.
Bisceglia L.; Fischetti L.; Bonis P.D.; Palumbo O.; Augello B.; Stanziale P.; Carella M.; Zelante L.;
Mol. Genet. Metab. 99:42-52(2010)
Cited for: VARIANTS CSNU ARG-105; GLU-105; MET-123; THR-182 AND LYS-250;
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.