UniProtKB/Swiss-Prot Q12908: Variant p.Ser171Ala

Ileal sodium/bile acid cotransporter
Gene: SLC10A2
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Variant information Variant position:

171 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Serine (S) to Alanine (A) at position 171 (S171A, p.Ser171Ala). 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 polar (S) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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
Other resources:

Links to websites of interest for the variant.

Variant rs188096 [ dbSNP | Ensembl ]

Sequence information Variant position:

171 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

348 The length of the canonical sequence.
Location on the sequence:

MWVDSGSIVIPYDNIGTSLV S LVVPVSIGMFVNHKWPQKAK 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                         MWVDSGSIVIPYDNIGTSLVSLVVPVSIGMFVNHKWPQKAK

Mouse                         MWVDSGTIVIPYDSIGISLVALVIPVSFGMFVNHKWPQKAK

Rat                           MWVDSGTIVIPYDSIGISLVALVIPVSIGMFVNHKWPQKAK

Rabbit                        MWVDSGTIVIPYDNIGTSLVALVVPVSIGMFVNHKWPQKAK

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 – 348	Ileal sodium/bile acid cotransporter
Transmembrane	158 – 178	Helical

Literature citations
Identification of a mutation in the ileal sodium-dependent bile acid transporter gene that abolishes transport activity.
Wong M.H.; Oelkers P.; Dawson P.A.;
J. Biol. Chem. 270:27228-27234(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ALA-171 AND SER-290; TRANSPORT ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2).
Oelkers P.; Kirby L.C.; Heubi J.E.; Dawson P.A.;
J. Clin. Invest. 99:1880-1887(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS PBAM1 PRO-243 AND MET-262; VARIANT ALA-171; Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia.
Chumakov I.; Blumenfeld M.; Guerassimenko O.; Cavarec L.; Palicio M.; Abderrahim H.; Bougueleret L.; Barry C.; Tanaka H.; La Rosa P.; Puech A.; Tahri N.; Cohen-Akenine A.; Delabrosse S.; Lissarrague S.; Picard F.-P.; Maurice K.; Essioux L.; Millasseau P.; Grel P.; Debailleul V.; Simon A.-M.; Caterina D.; Dufaure I.; Malekzadeh K.; Belova M.; Luan J.-J.; Bouillot M.; Sambucy J.-L.; Primas G.; Saumier M.; Boubkiri N.; Martin-Saumier S.; Nasroune M.; Peixoto H.; Delaye A.; Pinchot V.; Bastucci M.; Guillou S.; Chevillon M.; Sainz-Fuertes R.; Meguenni S.; Aurich-Costa J.; Cherif D.; Gimalac A.; Van Duijn C.; Gauvreau D.; Ouellette G.; Fortier I.; Raelson J.; Sherbatich T.; Riazanskay N.; Rogaev E.; Raeymaekers P.; Aerssens J.; Konings F.; Luyten W.; Macciardi F.; Sham P.C.; Straub R.E.; Weinberger D.R.; Cohen N.; Cohen D.;
Proc. Natl. Acad. Sci. U.S.A. 99:13675-13680(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ALA-171; The DNA sequence and analysis of human chromosome 13.
Dunham A.; Matthews L.H.; Burton J.; Ashurst J.L.; Howe K.L.; Ashcroft K.J.; Beare D.M.; Burford D.C.; Hunt S.E.; Griffiths-Jones S.; Jones M.C.; Keenan S.J.; Oliver K.; Scott C.E.; Ainscough R.; Almeida J.P.; Ambrose K.D.; Andrews D.T.; Ashwell R.I.S.; Babbage A.K.; Bagguley C.L.; Bailey J.; Bannerjee R.; Barlow K.F.; Bates K.; Beasley H.; Bird C.P.; Bray-Allen S.; Brown A.J.; Brown J.Y.; Burrill W.; Carder C.; Carter N.P.; Chapman J.C.; Clamp M.E.; Clark S.Y.; Clarke G.; Clee C.M.; Clegg S.C.; Cobley V.; Collins J.E.; Corby N.; Coville G.J.; Deloukas P.; Dhami P.; Dunham I.; Dunn M.; Earthrowl M.E.; Ellington A.G.; Faulkner L.; Frankish A.G.; Frankland J.; French L.; Garner P.; Garnett J.; Gilbert J.G.R.; Gilson C.J.; Ghori J.; Grafham D.V.; Gribble S.M.; Griffiths C.; Hall R.E.; Hammond S.; Harley J.L.; Hart E.A.; Heath P.D.; Howden P.J.; Huckle E.J.; Hunt P.J.; Hunt A.R.; Johnson C.; Johnson D.; Kay M.; Kimberley A.M.; King A.; Laird G.K.; Langford C.J.; Lawlor S.; Leongamornlert D.A.; Lloyd D.M.; Lloyd C.; Loveland J.E.; Lovell J.; Martin S.; Mashreghi-Mohammadi M.; McLaren S.J.; McMurray A.; Milne S.; Moore M.J.F.; Nickerson T.; Palmer S.A.; Pearce A.V.; Peck A.I.; Pelan S.; Phillimore B.; Porter K.M.; Rice C.M.; Searle S.; Sehra H.K.; Shownkeen R.; Skuce C.D.; Smith M.; Steward C.A.; Sycamore N.; Tester J.; Thomas D.W.; Tracey A.; Tromans A.; Tubby B.; Wall M.; Wallis J.M.; West A.P.; Whitehead S.L.; Willey D.L.; Wilming L.; Wray P.W.; Wright M.W.; Young L.; Coulson A.; Durbin R.M.; Hubbard T.; Sulston J.E.; Beck S.; Bentley D.R.; Rogers J.; Ross M.T.;
Nature 428:522-528(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT ALA-171; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ALA-171; Analysis of the ileal bile acid transporter gene, SLC10A2, in subjects with familial hypertriglyceridemia.
Love M.W.; Craddock A.L.; Angelin B.; Brunzell J.D.; Duane W.C.; Dawson P.A.;
Arterioscler. Thromb. Vasc. Biol. 21:2039-2045(2001)
Cited for: VARIANTS ILE-98; ILE-159 AND ALA-171; Absence of dysfunctional ileal sodium-bile acid cotransporter gene mutations in patients with adult-onset idiopathic bile acid malabsorption.
Montagnani M.; Love M.W.; Rossel P.; Dawson P.A.; Qvist P.;
Scand. J. Gastroenterol. 36:1077-1080(2001)
Cited for: VARIANTS ILE-98 AND ALA-171;

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.