Variant position: 362 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:
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 QYSELYHDFTTTQVGMHDIV RSFRQTMDQYSTEPGRYRFMG
Mouse HYSELYHDFTTTQVGMHDIV RDFRQTMNQYSREPGRYRFMG
Rat RYSELYHDFTTTQVGMHDLV RDFRQTMNQFSREPGRYRFMG
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
1 – 685 Neutral and basic amino acid transport protein rBAT
109 – 685 Extracellular
9 – 377 Missing. In isoform D.
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 MET-216; CYS-362; TRP-365; THR-467 AND ALA-508;
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