Table 2.

ACADS Variants Discussed in This GeneReview

Variant ClassificationDNA Nucleotide ChangePredicted Protein Change
(Alias 1)		Reference Sequences
Pathogenic c.319C>T
rs61732144		p.Arg107Cys 2
(Arg83Cys) 3		 NM_000017​.2
NP_000008​.1
Susceptibility variants c.511C>T
rs1800556		p.Arg171Trp 2
(Arg147Trp) 3
c.625G>A
rs1799958		p.Gly209Ser 2
(Gly185Ser) 3

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Variant designation that does not conform to current naming conventions

2.

Residue in the precursor peptide

3.

Residue in the mature enzyme, after cleavage of the 24 N-terminal amino acids of the transit peptide that directs the protein to the mitochondria

From: Short-Chain Acyl-CoA Dehydrogenase Deficiency

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