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Variant position: 417The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 524The 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.
Baker's yeast -YVSTDSNPVDIQMYEVCSEFIDVTIDLFDLYKAPVLRNSQ
Fission yeast -YVATDSSPVDVQSYEICSDFIDVILDIGSIYG----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.
||1 – 524
||Solute carrier family 2, facilitated glucose transporter member 2
||401 – 421
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;
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.