UniProtKB/Swiss-Prot P06576: Variant p.Ala130Val

ATP synthase subunit beta, mitochondrial
Gene: ATP5F1B
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Variant information Variant position:

130 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 Alanine (A) to Valine (V) at position 130 (A130V, p.Ala130Val). 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

Sequence information Variant position:

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

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

TIAMDGTEGLVRGQKVLDSG A PIKIPVGPETLGRIMNVIGE 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                         TIAMDGTEGLVRGQKVLDSGAPIKIPVGPETLGRIMNVIGE

Mouse                         TIAMDGTEGLVRGQKVLDSGAPIKIPVGPETLGRIMNVIGE

Rat                           TIAMDGTEGLVRGQKVLDSGAPIKIPVGPETLGRIMNVIGE

Bovine                        TIAMDGTEGLVRGQKVLDSGAPIRIPVGPETLGRIMNVIGE

Chicken                       TIAMDGTEGLVRGQKVLDSGAPIRIPVGPETLGRIMNVIGE

Caenorhabditis elegans        CIAMDGTEGLVRGQPVADTGDPIKIPVGPETLGRIMNVIGE

Drosophila                    TIAMDGTEGLVRGQKVLDTGYPIRIPVGAETLGRIINVIGE

Slime mold                    CVALDITDGLGRGALVLNTGSPLMVPVGQATLGRIMNVIGE

Baker's yeast                 TIAMDGTEGLVRGEKVLDTGGPISVPVGRETLGRIINVIGE

Fission yeast                 TIAMDGTEGLVRGTAVIDTGSPISIPVGPGTLGRIMNVIGE

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	48 – 529	ATP synthase subunit beta, mitochondrial
Modified residue	124 – 124	N6-acetyllysine; alternate
Modified residue	124 – 124	N6-succinyllysine; alternate
Modified residue	133 – 133	N6-acetyllysine; alternate
Modified residue	133 – 133	N6-succinyllysine; alternate
Beta strand	129 – 131

Literature citations
Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas.
Cromer M.K.; Choi M.; Nelson-Williams C.; Fonseca A.L.; Kunstman J.W.; Korah R.M.; Overton J.D.; Mane S.; Kenney B.; Malchoff C.D.; Stalberg P.; Akerstroem G.; Westin G.; Hellman P.; Carling T.; Bjoerklund P.; Lifton R.P.;
Proc. Natl. Acad. Sci. U.S.A. 112:4062-4067(2015)
Cited for: VARIANT VAL-130;

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.