Sequence information
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:
SYVSMIAIFLFVSFFEIGPG
P IPWFMVAEFFSQGPRPAALA
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 SYVSMIAIFLFVSFFEIGPGP IPWFM-VAEFFSQGPRPAALA
Mouse SYVSMTAIFLFVSFFEIGPGP IPWFM-VAEFFSQGPRPTAL
Rat SYVSMTAIFLFVSFFEIGPGP IPWFM-VAEFFSQGPRPTAL
Pig SYVSMTAIFLFVSFFEIGPGP IPWFM-VAEFFSQGPRPAAL
Bovine NYVSMTAIFLFVSFFEIGPGP IPWFM-VAEFFSQGPRPAAL
Chicken SYVSMVAIFLFVIFFEVGPGP IPWFI-VAELFSQGPRPAAI
Baker's yeast -YVSTDSNPVDIQMYEVCSEF IDVTIDLFDLYKAPVLRNSQ
Fission yeast -YVATDSSPVDVQSYEICSDF IDVILDIGSIYG----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
Chain
1 – 524
Solute carrier family 2, facilitated glucose transporter member 2
Transmembrane
401 – 421
Helical; Name=10
Binding site
412 – 412
D-glucose
Binding site
420 – 420
D-glucose
Literature citations
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;
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.