Variant information:

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Variant position: 197

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant: Unclassified

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

• Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
• Polymorphism: No disease-association has been reported.
• Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change: From Valine (V) to Isoleucine (I) at position 197 (V197I, p.Val197Ile).

Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties: Similar physico-chemical property. Both residues are medium size and hydrophobic.

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score: 3

The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

• Lowest score: -4 (low probability of substitution).
• Highest score: 11 (high probability of substitution).

More information can be found on the following page

Variant description: In NIDDM; abolishes transport activity of the transporter expressed in Xenopus oocytes.

Any additional useful information about the variant.

Other resources: 

Links to websites of interest for the variant.

• GeneReviews
• Wikipedia; GLUT2 entry

Sequence information:

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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:  GEIAPTALRGALGTFHQLAI  V TGILISQIIGLEFILGNYDL

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                         GEIAPTALRGALGTFHQLAIVTGILISQIIGLEFILGNYDL

Mouse                         GEIAPTTLRGALGTLHQLALVTGILISQIAGLSFILGNQDH

Rat                           GEIAPTTLRGALGTLHQLALVTGILISQIAGLSFILGNQDY

Bovine                        GEIAPTTLRGAIGALHQLAIVTGILISQIVGLDFILGNHEL

Chicken                       SEVSPTALRGALGTLHQLAIVTGILISQVLGLDFLLGNDEL

Baker's yeast                 -------------------------FKSVGALVYVIDSQDE

Fission yeast                 -------------------------FTQVGALIFVIDAQDD

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	188 – 208	Helical; Name=5;

Literature citations

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.;
Diabetologia 37:420-427(1994)
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;