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UniProtKB/Swiss-Prot P13804: Variant p.Val157Gly

Electron transfer flavoprotein subunit alpha, mitochondrial
Gene: ETFA
Variant information

Variant position:  157
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 Valine (V) to Glycine (G) at position 157 (V157G, p.Val157Gly).
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 hydrophobic (V) to glycine (G)
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

Variant description:  In GA2A.
Any additional useful information about the variant.

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



Sequence information

Variant position:  157
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  333
The length of the canonical sequence.

Location on the sequence:   AIKSPDTFVRTIYAGNALCT  V KCDEKVKVFSVRGTSFDAAA
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                         AIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAA

Mouse                         EIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFEAAA

Rat                           EIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFEAAA

Bovine                        AIKSPDTFVRTIYAGNAICTVKCDEKVKVFSVRGTSFEAAA

Caenorhabditis elegans        EVHSADSFTRTLYAGNAVKKVKSTAPIKLLTFRGTSFE-PA

Slime mold                    KVKDAETFQRPIYAGNAIATVKSTDKCKVGTVRTTAFDKAP

Baker's yeast                 VIKDPKTFIRPIYAGNIISTIECQAEKKLLIIRASAFP-PI

Fission yeast                 GVVSADTFVRPTYAGNVNVTVSTKDPIKIVTVRASAFDAAP

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.

TypePositionsDescription
Chain 20 – 333 Electron transfer flavoprotein subunit alpha, mitochondrial
Region 20 – 204 Domain I
Modified residue 139 – 139 N6-acetyllysine
Modified residue 140 – 140 Phosphoserine
Modified residue 158 – 158 N6-acetyllysine; alternate
Modified residue 158 – 158 N6-succinyllysine; alternate
Modified residue 164 – 164 N6-acetyllysine
Beta strand 153 – 159


Literature citations

Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II -- and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient.
Indo Y.; Glassberg R.; Yokota I.; Tanaka K.;
Am. J. Hum. Genet. 49:575-580(1991)
Cited for: VARIANT GA2A GLY-157; FUNCTION;

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.