Variant position: 318 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 664 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 VQRCLSAKNMSHVKGGCILC GYLKLMPMFIMVMPGMISRIL
Mouse VQRCLSAKNMSHVKADCTLC GYLKLLPMFLMVMPGMISRIL
Rat VQRCLSAKNMSHVKAGCTLC GYLKLLPMFLMVMPGMISRIL
Rabbit VQRCLSAKNLSHVKAGCILC GYLKVMPMFLIVMMGMVSRIL
Sheep VQRCLSAKNMSHVKAGCIMC GYMKLLPMFLMVMPGMISRIL
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 – 664 Sodium/glucose cotransporter 1
314 – 334 Helical
300 – 300 Implicated in sodium coupling
255 – 610
Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects.
Lam J.T.; Martin M.G.; Turk E.; Hirayama B.A.; Bosshard N.U.; Steinmann B.; Wright E.M.;
Biochim. Biophys. Acta 1453:297-303(1999)
Cited for: VARIANTS GGM ARG-318 AND VAL-468;
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