Variant position: 197 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 GEIAPTALRGALGTFHQLAI VTGILISQIIGLEFILGNYDL
Mouse GEIAPTTLRGALGTLHQLAL VTGILISQIAGLSFILGNQDH
Rat GEIAPTTLRGALGTLHQLAL VTGILISQIAGLSFILGNQDY
Pig GEIAPTKFRGAIGALHQLAI VTGILVSQIIGLDFLLGNHEL
Bovine GEIAPTTLRGAIGALHQLAI VTGILISQIVGLDFILGNHEL
Chicken SEVSPTALRGALGTLHQLAI VTGILISQVLGLDFLLGNDEL
Baker's yeast -------------------- -------------YVIDSQDE
Fission yeast -------------------- -------------FVIDAQDD
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
188 – 208 Helical; Name=5
193 – 193 D-glucose
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.