TABLE 1.

Bioinformatic analysis of ACACA mutations.

Nucleotide change	c.4858G > A	c.6481C > T
Amino acid change	p. A1620T	p. R2161W
SIFT1	Tolerated (score = 0.515)	Tolerated (score = 0.105)
PROVEAN2	Neutral (score = −0.65)	Deleterious (score = −5.778)
MutationTaster	Disease-causing	Disease-causing
PolyPhen-23	Benign (score = 0.014)	Probably damaging (score = 0.999)
dbSNP (MAF/minor allele count)4	−(<0.005)	−(<0.005)
ClinVar5	–	–
ExAC allele frequency6	0.0001	0.0009

¹The SIFT score ranges from 0.0 (deleterious) to 1.0 (tolerated); variants with scores closer to 0.0 are more confidently predicted to be deleterious, and very close to 1.0 are more confidently predicted to be tolerated.

²The cutoff for PROVEAN scores was set to -2.5. That is, consider a score higher than –2.5 to be neutral (tolerated) and that lower than or equal to –2.5 to be deleterious (damaging).

³The PolyPhen-2 score ranges from 0.0 (tolerated) to 1.0 (deleterious). Between 0.0 and 0.15 – variants with scores in this range are predicted to be benign; 0.15 and 1.0 – variants with scores in this range are possibly damaging; 0.85 and 1.0 – variants with scores in this range are more confidently predicted to be damaging.

⁴The “–” means both variants were absent from dbSNP.

⁵The “–” means no data have been submitted to the ClinVar database.

⁶The ExAC allele frequency represents the heterozygous mutation frequency.