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UniProtKB/Swiss-Prot Q16836: Variant p.Asp57Gly

Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
Gene: HADH
Variant information

Variant position:  57
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  US
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 Aspartate (D) to Glycine (G) at position 57 (D57G, p.Asp57Gly).
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 acidic (D) to glycine (G)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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:  Found in a patient with Reye-like syndrome. Does not affect 3-hydroxyacyl-CoA dehydrogenase activity. Increases KM value for NADH. Does not affect dimerization.
Any additional useful information about the variant.



Sequence information

Variant position:  57
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  314
The length of the canonical sequence.

Location on the sequence:   LMGAGIAQVAAATGHTVVLV  D QTEDILAKSKKGIEESLRKV
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.

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 13 – 314 Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
Binding site 57 – 57 NAD
Binding site 73 – 73 Coenzyme A


Literature citations

Reye-like syndrome resulting from novel missense mutations in mitochondrial medium- and short-chain l-3-hydroxy-acyl-CoA dehydrogenase.
Bennett M.J.; Russell L.K.; Tokunaga C.; Narayan S.B.; Tan L.; Seegmiller A.; Boriack R.L.; Strauss A.W.;
Mol. Genet. Metab. 89:74-79(2006)
Cited for: VARIANTS GLY-57 AND HIS-226; CATALYTIC ACTIVITY; FUNCTION; CHARACTERIZATION OF VARIANTS GLY-57 AND HIS-226; BIOPHYSICOCHEMICAL PROPERTIES; SUBUNIT; PATHWAY;

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.