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UniProtKB/Swiss-Prot P13866: Variant p.Ala468Val

Sodium/glucose cotransporter 1
Gene: SLC5A1
Variant information

Variant position:  468
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 468 (A468V, p.Ala468Val).
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.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  468
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  664
The length of the canonical sequence.

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.






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.

Chain 1 – 664 Sodium/glucose cotransporter 1
Transmembrane 456 – 476 Helical
Binding site 457 – 457
Site 460 – 460 Involved in sugar-binding/transport and inhibitor binding
Disulfide bond 255 – 511
Mutagenesis 451 – 451 Q -> A. Strong reduction in water permeation.
Mutagenesis 452 – 452 L -> A. Loss of water permeation.
Mutagenesis 454 – 454 D -> A. Has no effect on water permeation.
Mutagenesis 457 – 457 Q -> A. Loss of D-glucose transporter activity.
Mutagenesis 457 – 457 Q -> C. Strong reduction in D-glucose transporter activity.
Mutagenesis 460 – 460 T -> A. Loss of D-glucose transporter activity.

Literature citations

Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects.
Lam J.T.; Martin M.G.; Turk E.; Hirayama B.A.; Bosshard N.U.; Steinmann B.; Wright E.M.;
Biochim. Biophys. Acta 1453:297-303(1999)
Cited for: VARIANTS GGM ARG-318 AND VAL-468;

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.