Variant position: 496 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 628 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 ASPNLLMLAFLEVVGVVYVY GMKRFCDDIAWMTGRRPSPYW
Mouse ASLNLIIFAFMEVVGVIHIY GMKRFCDDIEWMTGRRPGLYW
Rat ASLNLIIFAFMEVVGVIHVY GIKRFCDDIEWMTGRRPSLYW
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 – 628 Inactive sodium-dependent neutral amino acid transporter B(0)AT3
475 – 497 Helical; Name=10
Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters.
Broer S.; Bailey C.G.; Kowalczuk S.; Ng C.; Vanslambrouck J.M.; Rodgers H.; Auray-Blais C.; Cavanaugh J.A.; Broer A.; Rasko J.E.;
J. Clin. Invest. 118:3881-3892(2008)
Cited for: VARIANTS SER-79; LEU-478 AND ARG-496; POSSIBLE INVOLVEMENT IN HG AND IG;
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