Impaired Function of a Rare Mutation in the MMUT Gene Causes Methylmalonic Acidemia in a Chinese Patient

Table 2

Analysis of the MMUT mutation in the MMA patient.

cDNA mutation	c.554C>T
Protein alteration	p.S185F
Mutation type	Missense allele frequency
gnomAD	NA
1000 Genomes	NA
SIFT_pred	Deleterious
Polyphen-2	Probably damaging
LRT_pred	Deleterious
MutationTaster_pred	Deleterious
M-CAP_pred	Deleterious
FATHMM_pred	Deleterious

NA: not available; a is the accession number for MUT GenBank:NM_000255.3.