UniProtKB/SwissProt variant VAR

Variant information

Variant position:

423

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

Type of variant:

Disease [Disclaimer]

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

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Valine (V) to Glutamate (E) at position 423 (V423E, p.Val423Glu).

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:

Change from medium size and hydrophobic (V) to medium size and acidic (E)

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

BLOSUM score:

-2

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:

Fanconi-Bickel syndrome (FBS) [MIM:227810]: Rare, well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose. {ECO:0000269|PubMed:10987651, ECO:0000269|PubMed:11044475}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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 FBS.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs28928874 [ dbSNP | Ensembl ]

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-VAEFFSQGPRPAALAIAAFSN

Mouse                         AIFLFVSFFEIGPGPIPWFM-VAEFFSQGPRPTALALAAFS

Rat                           AIFLFVSFFEIGPGPIPWFM-VAEFFSQGPRPTALALAAFS

Pig                           AIFLFVSFFEIGPGPIPWFM-VAEFFSQGPRPAALAMAAFS

Bovine                        AIFLFVSFFEIGPGPIPWFM-VAEFFSQGPRPAALAIAAFS

Chicken                       AIFLFVIFFEVGPGPIPWFI-VAELFSQGPRPAAIAVAGFC

Baker's yeast                 SNPVDIQMYEVCSEFIDVTIDLFDLYKAPVLRNSQ-KSSDK

Fission yeast                 SSPVDVQSYEICSDFIDVILDIGSIYG----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	420 – 420	Monosaccharide

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;

UniProtKB/Swiss-Prot P11168: Variant p.Val423Glu