Variant position: 417 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 524 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 SYVSMIAIFLFVSFFEIGPG PIPWFM-VAEFFSQGPRPAALA
Mouse SYVSMTAIFLFVSFFEIGPG PIPWFM-VAEFFSQGPRPTAL
Rat SYVSMTAIFLFVSFFEIGPG PIPWFM-VAEFFSQGPRPTAL
Bovine NYVSMTAIFLFVSFFEIGPG PIPWFM-VAEFFSQGPRPAAL
Chicken SYVSMVAIFLFVIFFEVGPG PIPWFI-VAELFSQGPRPAAI
Baker's yeast -YVSTDSNPVDIQMYEVCSE FIDVTIDLFDLYKAPVLRNSQ
Fission yeast -YVATDSSPVDVQSYEICSD FIDVILDIGSIYG----RSSQ
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 – 524 Solute carrier family 2, facilitated glucose transporter member 2
401 – 421 Helical; Name=10
420 – 420 Monosaccharide
A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.
Burwinkel B.; Sanjad S.A.; Al-Sabban E.; Al-Abbad A.; Kilimann M.W.;
Hum. Genet. 105:240-243(1999)
Cited for: VARIANT FBS LEU-417;
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