UniProtKB/Swiss-Prot P14410: Variant p.Thr231Ala

Sucrase-isomaltase, intestinal
Gene: SI
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Variant information Variant position:

231 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 Threonine (T) to Alanine (A) at position 231 (T231A, p.Thr231Ala). 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 (T) to small size and hydrophobic (A) 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
Other resources:

Links to websites of interest for the variant.

Variant rs9283633 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1827 The length of the canonical sequence.
Location on the sequence:

TLFDTSIGPLVYSDQYLQIS T RLPSDYIYGIGEQVHKRFRH 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                         TLFDTSIGPLVYSDQYLQISTRLPSDYIYGIGEQVHKRFRH

Rat                           VLCDTSVGPLLYSNQYLQISTRLPSEYIYGFGGHIHKRFRH

Rabbit                        ILFDSSIGPLVYSDQYLQISTRLPSEYMYGFGEHVHKRFRH

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	2 – 1827	Sucrase-isomaltase, intestinal
Chain	2 – 1007	Isomaltase
Topological domain	33 – 1827	Lumenal
Region	110 – 1007	Isomaltase
Modified residue	237 – 237	Sulfotyrosine
Modified residue	239 – 239	Sulfotyrosine
Beta strand	226 – 232

Literature citations
Sequence of the complete cDNA and the 5' structure of the human sucrase-isomaltase gene. Possible homology with a yeast glucoamylase.
Chantret I.; Lacasa M.; Chevalier G.; Ruf J.; Islam I.; Mantei N.; Edwards Y.; Swallow D.; Rousset M.;
Biochem. J. 285:915-923(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ALA-231 AND ILE-1523; 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]; VARIANTS PHE-15; ALA-231 AND ILE-1523; Isolation of a cDNA probe for a human jejunal brush-border hydrolase, sucrase-isomaltase, and assignment of the gene locus to chromosome 3.
Green F.; Edwards Y.; Hauri H.-P.; Povey S.; Ho M.W.; Pinto M.; Swallow D.;
Gene 57:101-110(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-679; VARIANT ALA-231; Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum.
Ritz V.; Alfalah M.; Zimmer K.P.; Schmitz J.; Jacob R.; Naim H.Y.;
Gastroenterology 125:1678-1685(2003)
Cited for: VARIANTS PHE-15 AND ALA-231; VARIANT CSID PRO-620; Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
Sander P.; Alfalah M.; Keiser M.; Korponay-Szabo I.; Kovacs J.B.; Leeb T.; Naim H.Y.;
Hum. Mutat. 27:119-119(2006)
Cited for: VARIANTS CSID GLY-577; PRO-594; PRO-694; ASP-1073; TYR-1229; GLY-1367 AND CYS-1745; VARIANTS PHE-15; ALA-231 AND ILE-1523;

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.