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UniProtKB/Swiss-Prot P13866 : Variant p.Gln295Arg
Sodium/glucose cotransporter 1
Gene: SLC5A1
Variant information
Variant position: 295 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LP/P [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: LP/P, LB/B and US.LP/P: likely pathogenic or pathogenic. LB/B: likely benign or benign. US: uncertain significance
Residue change: From Glutamine (Q) to Arginine (R) at position 295 (Q295R, p.Gln295Arg).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 polar (Q) to large size and basic (R)The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 1The 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: 295 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:
PWPGFIFGMSILTLWYWCTD
Q VIVQRCLSAKNMSHVKGGCI
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 PWPGFIFGMSILTLWYWCTDQ VIVQRCLSAKNMSHVKGGCI
Mouse PWPGLIFGLAILALWYWCTDQ VIVQRCLSAKNMSHVKADCT
Rat PWPGLIFGLSILALWYWCTDQ VIVQRCLSAKNMSHVKAGCT
Rabbit PWPGLVFGMSILTLWYWCTDQ VIVQRCLSAKNLSHVKAGCI
Sheep PWPGLIFGLTIISLWYWCTDQ VIVQRCLSAKNMSHVKAGCI
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
278 – 298
Helical
Site
300 – 300
Implicated in sodium coupling
Disulfide bond
255 – 511
Mutagenesis
287 – 287
T -> A. Acquires D-mannose, D-fructose and L-sorbose transporter activity; when associated with L-83 and C-290.
Mutagenesis
287 – 287
T -> N. Loss of D-glucose transporter activity. Has strict selectivity for D-galactose.
Mutagenesis
287 – 287
T -> SA. Has normal D-glucose and D-galactose transporter activity.
Mutagenesis
290 – 290
Y -> C. Loss of D-galactose transporter activity. Has strict selectivity for D-glucose. Acquires D-mannose, D-fructose and L-sorbose transporter activity; when associated with A-287 and L-83.
Mutagenesis
291 – 291
W -> A. Loss of D-glucose transporter activity.
Mutagenesis
292 – 292
C -> A. Has no effect on water permeability.
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;
Disclaimer:
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.