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UniProtKB/Swiss-Prot P13804: Variant p.Gly116Arg

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

Variant position:  116
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 Glycine (G) to Arginine (R) at position 116 (G116R, p.Gly116Arg).
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 glycine (G) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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; impaired protein stability and loss of electron transfer activity.
Any additional useful information about the variant.

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



Sequence information

Variant position:  116
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:   ILATQKQFNYTHICAGASAF  G KNLLPRVAAKLEVAPISDII
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                         ILATQ-----KQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDII

Mouse                         ILETQ-----KQFSYTHICAGASAFGKNLLPRVAAKLNVAP

Rat                           ILETQ-----KQFSYTHICAGASAFGKNLLPRVAAKLNVAP

Bovine                        ILATQ-----KQFNHTHICAGASAFGKNLLPRIAAKLDVAP

Caenorhabditis elegans        ILASQ-----KQFNFTAITAGSSAFGRGVIPRVAAKLDVSS

Slime mold                    IVKLQSSSSKEGDEITHIFTPASNFGKNFLPRVAALLNVSQ

Baker's yeast                 LVKLL-----KGGDYSHFVVSNSSVGKSVLPRVGALLDVQP

Fission yeast                 LFENV-----KKNEISHVFSAHSTVGKGVMPRLAAMFDVMQ

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 101 – 101 N6-acetyllysine
Helix 114 – 127


Literature citations

Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients.
Freneaux E.; Sheffield V.C.; Molin L.; Shires A.; Rhead W.;
J. Clin. Invest. 90:1679-1686(1992)
Cited for: VARIANTS GA2A ARG-116 AND MET-266; FUNCTION; CHARACTERIZATION OF VARIANT GA2A MET-266;

Expression and characterization of two pathogenic mutations in human electron transfer flavoprotein.
Salazar D.; Zhang L.; deGala G.D.; Frerman F.E.;
J. Biol. Chem. 272:26425-26433(1997)
Cited for: CHARACTERIZATION OF VARIANTS GA2A ARG-116 AND MET-266; FUNCTION; COFACTOR; SUBUNIT;

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.