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UniProtKB/Swiss-Prot Q07837: Variant p.Ser130Pro

Neutral and basic amino acid transport protein rBAT
Gene: SLC3A1
Variant information

Variant position:  130
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Serine (S) to Proline (P) at position 130 (S130P, p.Ser130Pro).
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 small size and polar (S) to medium size and hydrophobic (P)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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

Involvement in disease:  Cystinuria (CSNU) [MIM:220100]: An autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure. {ECO:0000269|PubMed:10738006, ECO:0000269|PubMed:11748844, ECO:0000269|PubMed:12234283, ECO:0000269|PubMed:15635077, ECO:0000269|PubMed:16138908, ECO:0000269|PubMed:16609684, ECO:0000269|PubMed:19782624, ECO:0000269|PubMed:7539209, ECO:0000269|PubMed:7573036, ECO:0000269|PubMed:7575432, ECO:0000269|PubMed:8054986, ECO:0000269|PubMed:9186880}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

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



Sequence information

Variant position:  130
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  685
The length of the canonical sequence.

Location on the sequence:   LSPKCLDWWQEGPMYQIYPR  S FKDSNKDGNGDLKGIQDKLD
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                         LSPKCLDWWQEGPMYQIYPRSFKDSNKDGNGDLKGIQDKLD

Mouse                         ISPKCLDWWQAGPIYQIYPRSFKDSDKDGNGDLKGIQEKLD

Rat                           ISPKCLDWWQAGPMYQIYPRSFKDSDKDGNGDLKGIQEKLD

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 1 – 685 Neutral and basic amino acid transport protein rBAT
Topological domain 109 – 685 Extracellular
Alternative sequence 1 – 278 Missing. In isoform B.
Alternative sequence 9 – 377 Missing. In isoform D.


Literature citations

New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.
Font-Llitjos M.; Jimenez-Vidal M.; Bisceglia L.; Di Perna M.; de Sanctis L.; Rousaud F.; Zelante L.; Palacin M.; Nunes V.;
J. Med. Genet. 42:58-68(2005)
Cited for: VARIANTS CSNU PRO-89; ARG-123; CYS-124; PRO-130; GLY-137; GLN-149; MET-189; PRO-348; LYS-410; ARG-441; LEU-455; CYS-456; HIS-456; LEU-507; SER-568 AND TRP-666;

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.