UniProtKB/Swiss-Prot Q9BYV1: Variant p.Val140Ile

Alanine--glyoxylate aminotransferase 2, mitochondrial
Gene: AGXT2
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Variant information Variant position:

140 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 Valine (V) to Isoleucine (I) at position 140 (V140I, p.Val140Ile). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

3 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
Polymorphism:

Genetic variants in AGXT2 are association with beta-aminoisobutyric aciduria (BAIBA)[MIM:210100]. Excretion of beta-aminoisobutyric acid in urine is a common, benign, metabolic trait. Additional information on the polymorphism described.
Variant description:

Correlates with higher urinary beta-aminoisobutyric acid concentrations; localized to the mitochondrion as the wild-type; reduces alanine-glyoxylate aminotransferase activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs37369 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

HPKVNAVAQKQLGRLWHTST V FFHPPMHEYAEKLAALLPEP 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                         HPKVNAVAQKQLGRLWHTSTVFFHPPMHEYAEKLAALLPEP

Mouse                         HPKVSAVAKKQIDRLWHTSSVFFHSPMHEYAEKLSALLPEP

Rat                           HPKVTAVAKKQMDRLWHTSSVFFHSPMHEYAERLSALLPEP

Bovine                        HPKVNAAAQRQLGRLWHTSSVFFHPLIHEYAEKLSALLPEP

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	42 – 514	Alanine--glyoxylate aminotransferase 2, mitochondrial

Literature citations
Human beta-alanine-pyruvate aminotransferase cDNA.
Matsuda K.; Horikawa Y.; Kaneko M.; Sakata S.; Tamaki N.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ASN-102; ILE-140 AND ILE-212; Submission
Suzuki Y.; Sugano S.; Totoki Y.; Toyoda A.; Takeda T.; Sakaki Y.; Tanaka A.; Yokoyama S.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS ASN-102; ILE-140; ILE-212 AND LEU-498; Association of the AGXT2 V140I polymorphism with risk for coronary heart disease in a Chinese population.
Zhou J.P.; Bai Y.P.; Hu X.L.; Kuang D.B.; Shi R.Z.; Xiong Y.; Zhang W.; Xia J.; Chen B.L.; Yang T.L.; Chen X.P.;
J. Atheroscler. Thromb. 21:1022-1030(2014)
Cited for: VARIANT ILE-140; Alanine-glyoxylate aminotransferase 2 (AGXT2) polymorphisms have considerable impact on methylarginine and beta-aminoisobutyrate metabolism in healthy volunteers.
Kittel A.; Muller F.; Konig J.; Mieth M.; Sticht H.; Zolk O.; Kralj A.; Heinrich M.R.; Fromm M.F.; Maas R.;
PLoS ONE 9:E88544-E88544(2014)
Cited for: POLYMORPHISM; VARIANTS ILE-140 AND LEU-498; FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT ILE-140; CATALYTIC 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.