UniProtKB/SwissProt variant VAR

Variant information

Variant position:

388

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

Type of variant:

LP/P [Disclaimer]

The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Alanine (A) to Valine (V) at position 388 (A388V, p.Ala388Val).

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 small size and hydrophobic (A) to medium size and hydrophobic (V)

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

BLOSUM score:

0

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 GGM; loss of activity.

Any additional useful information about the variant.

Sequence information

Variant position:

388

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

Protein sequence length:

664

The length of the canonical sequence.

Location on the sequence:

TLVVELMPNGLRGLMLSVML A SLMSSLTSIFNSASTLFTMD

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                         TLVVELMPNGLRGLMLSVMLASLMSSLTSIFNSASTLFTMD

Mouse                         TLVVELMPNGLRGLMLSVMMASLMSSLTSIFNSASTLFTMD

Rat                           TLVVELMPNGLRGLMLSVMMASLMSSLTSIFNSASTLFTMD

Rabbit                        TLVVELMPNGLRGLMLSVMMASLMSSLTSIFNSASTLFTMD

Sheep                         TLVVELMPNGLRGLMLSVMLASLMSSLTSIFNSASTLFTMD

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 – 664	Sodium/glucose cotransporter 1
Transmembrane	381 – 401	Helical
Disulfide bond	255 – 511
Mutagenesis	396 – 396	S -> A. Loss of activity.

Literature citations

Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption.
Martin M.G.; Turk E.; Lostao M.P.; Kerner C.; Wright E.M.;
Nat. Genet. 12:216-220(1996)
Cited for: VARIANTS GGM ASN-28; GLY-28; SER-51; TRP-135; PRO-159; THR-166; 191-TYR--ALA-664 DEL; 254-LYS--ALA-664 DEL; LEU-276; TYR-292; ARG-295; SER-300; VAL-304; SER-369; 379-ARG--ALA-664 DEL; GLN-379; VAL-388; SER-405; THR-411; ARG-426; ASN-470; HIS-499 AND GLN-615; FUNCTION; TRANSPORTER ACTIVITY;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13866: Variant p.Ala388Val