High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population

Table 2

Variations identified in the 20 AIFM1-positive cases.

Nucleotide change	Amino acid change	Protein domain	Number of patients	Reported	Prediction information				Minor allele frequency^c
					SIFT^a	PolyPhen-2-HVAR^b	LRT	MutationTaster	ESP	ExAC	gnomAD-EAS	1000genomes
c.547A>T	p.Thr183Ser	FAD	1	No	0.05	0.228	Deleterious	Disease-causing	-1	-1	NA	-1
c.881G>A	p.Arg294Gln	NADH	1	No	0.63	0.148	Deleterious	Disease-causing	-1	5.70399-05	-1	-1
c.890A>T	p.Lys297Ile	NADH	1	No	0.01	0.788	Deleterious	Disease-causing	-1	-1	0.00291262	0.0005
c.912C>G	p.Ile304Met	NADH	2	No	0.11	0.846	Deleterious	Disease-causing	-1	-1	-1	NA
c.997C>T	p.Leu333Phe	NADH	1	No	0.11	0.846	Deleterious	Disease-causing	-1	NA	NA	NA
c.1030C>T	p.Leu344Phe	NADH	8	Yes	0.15	0.457	Deleterious	Disease-causing	-1	0.000205173	0.00291262	0.0005
c.1264C>T	p.Arg422Trp	FAD	2	Yes	0.09	0.999	Deleterious	Disease-causing	-1	-1	NA	-1
c.1394C>T	p.Ala465Val	FAD	1	No	0.002	1	Deleterious	Disease-causing	-1	NA	NA	NA
c.1492G>A	p.Val498Met	C-terminal	1	Yes	0.02	0.991	Deleterious	Disease-causing	1.13947-05	-1	0.0000777001	-1
c.1678T>C	p.Tyr560His	C-terminal	2	No	0.01	0.9	Deleterious	Disease-causing	-1	NA	NA	NA

Note: ^adeleterious (≤0.05); ). ^bProbably damaging (≥0.957), possibly damaging (), and benign (≤0.446). ^cAllele frequencies in each population database; it is marked as “-1” when the allele is not carried in the corresponding group. EAS: East Asians. NA: not available.