Sequence information
Variant position: 423 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:
AIFLFVSFFEIGPGPIPWFM
V AEFFSQGPRPAALAIAAFSN
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 AIFLFVSFFEIGPGPIPWFM-V AEFFSQGPRPAALAIAAFSN
Mouse AIFLFVSFFEIGPGPIPWFM-V AEFFSQGPRPTALALAAFS
Rat AIFLFVSFFEIGPGPIPWFM-V AEFFSQGPRPTALALAAFS
Pig AIFLFVSFFEIGPGPIPWFM-V AEFFSQGPRPAALAMAAFS
Bovine AIFLFVSFFEIGPGPIPWFM-V AEFFSQGPRPAALAIAAFS
Chicken AIFLFVIFFEVGPGPIPWFI-V AELFSQGPRPAAIAVAGFC
Baker's yeast SNPVDIQMYEVCSEFIDVTIDL FDLYKAPVLRNSQ-KSSDK
Fission yeast SSPVDVQSYEICSDFIDVILDI GSIYG----RSSQLKPGHS
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
Topological domain
422 – 433
Cytoplasmic
Binding site
412 – 412
D-glucose
Binding site
420 – 420
D-glucose
Literature citations
Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome.
Sakamoto O.; Ogawa E.; Ohura T.; Igarashi Y.; Matsubara Y.; Narisawa K.; Iinuma K.;
Pediatr. Res. 48:586-589(2000)
Cited for: VARIANTS FBS PRO-389 AND GLU-423;
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.