Variant position: 110 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 AQLITMLWSLSVSSFAVGGM TASFFGGWLGDTLGRIKAMLV
Mouse AHIVTMLWSLSVSSFAVGGM VASFFGGWLGDKLGRIKAMLA
Rat AHIVTMLWSLSVSSFAVGGM VASFFGGWLGDKLGRIKAMLA
Pig ASLIIMLWSLSVSIFAIGGM IASFFGGMLGDRLGRIKAMLV
Bovine ASLITMFWSLSVSSFAVGGM IASFFGGLLGDKLGRIKALLV
Chicken PHILTMYWSLSVSMFAVGGM VSSFTVGWIGDRLGRVKAMLV
Baker's yeast LEHFSTLIDLAVMELP--GQ LNYFEPSYDSERL--------
Fission yeast QDHISSFIDFSVWDFP--GQ VDVFDAAFDFESI--------
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
99 – 119 Helical; Name=2
1 – 123 MTEDKVTGTLVFTVITAVLGSFQFGYDIGVINAPQQVIISHYRHVLGVPLDDRKAINNYVINSTDELPTISYSMNPKPTPWAEEETVAAAQLITMLWSLSVSSFAVGGMTASFFGGWLGDTLG -> MHLN. In isoform 2.
Sequence variations of the pancreatic islet/liver glucose transporter (GLUT2) gene in Japanese subjects with noninsulin dependent diabetes mellitus.
Matsubara A.; Tanizawa Y.; Matsutani A.; Kaneko T.; Kaku K.;
J. Clin. Endocrinol. Metab. 80:3131-3135(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 29-100 (ISOFORM 1); VARIANTS LEU-68 AND ILE-110;
Variability of the pancreatic islet beta cell/liver (GLUT 2) glucose transporter gene in NIDDM patients.
Tanizawa Y.; Riggs A.C.; Chiu K.C.; Janssen R.C.; Bell D.S.H.; Go R.P.C.; Roseman J.M.; Acton R.T.; Permutt M.A.;
Cited for: VARIANT NIDDM ILE-197; VARIANT ILE-110;
A mutation in the Glut2 glucose transporter gene of a diabetic patient abolishes transport activity.
Mueckler M.; Kruse M.; Strube M.; Riggs A.C.; Chiu K.C.; Permutt M.A.;
J. Biol. Chem. 269:17765-17767(1994)
Cited for: CHARACTERIZATION OF VARIANT NIDDM ILE-197; CHARACTERIZATION OF VARIANT ILE-110;
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.