Variant information:

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Variant position: 383

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

Type of variant: Disease [Disclaimer: Variants classification is intended for research purposes only, not for clinical and diagnostic use. The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant.]

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 383 (V383I, p.Val383Ile).

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

Involvement in disease: Defects in SLC2A4 may be a cause of noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]. Defects in SLC2A4 may be a cause of certain post-receptor defects in NIDDM. The variant in position Ile-383 is found in a small number of NIDDM patients, but seems not to be found in nondiabetic subjects.

The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description: In NIDDM.

Any additional useful information about the variant.

Other resources: 

Links to websites of interest for the variant.

• Wikipedia; GLUT4 entry

Sequence information:

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Variant position: 383

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

Protein sequence length: 509

The length of the canonical sequence.

Location on the sequence:  CAILMTVALLLLERVPAMSY  V SIVAIFGFVAFFEIGPGPIP

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                         CAILMTVALLLLERVPAMSYVSIVAIFGFVAFFEIGPGPIP

Mouse                         CAILMTVALLLLERVPAMSYVSIVAIFGFVAFFEIGPGPIP

Rat                           CAILMTVALLLLERVPSMSYVSIVAIFGFVAFFEIGPGPIP

Bovine                        CAILMTVALLLLERVPAMSYVSIVAIFGFVAFFEIGPGPIP

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 – 509	Solute carrier family 2, facilitated glucose transporter member 4
Topological domain	375 – 384	Extracellular

Literature citations

Analysis of the gene sequences of the insulin receptor and the insulin-sensitive glucose transporter (GLUT-4) in patients with common-type non-insulin-dependent diabetes mellitus.
Kusari J.; Verma U.S.; Buse J.B.; Henry R.R.; Olefsky J.M.;
J. Clin. Invest. 88:1323-1330(1991)
Cited for: VARIANT NIDDM ILE-383;

Molecular scanning of insulin-responsive glucose transporter (GLUT4) gene in NIDDM subjects.
Choi W.H.; O'Rahilly S.; Buse J.B.; Rees A.; Morgan R.; Flier J.S.; Moller D.E.;
Diabetes 40:1712-1718(1991)
Cited for: VARIANT NIDDM ILE-383;

Insulin receptor and insulin-responsive glucose transporter (GLUT 4) mutations and polymorphisms in a Welsh type 2 (non-insulin-dependent) diabetic population.
O'Rahilly S.; Krook A.; Morgan R.; Rees A.; Flier J.S.; Moller D.E.;
Diabetologia 35:486-489(1992)
Cited for: VARIANT NIDDM ILE-383;