. 2020 May 11;24(12):6978–6987. doi: 10.1111/jcmm.15359

TABLE 2.

Characteristics of POU4F3 variant, analysis of predicted protein structure and disease‐causing effects

Gene	Exon	Domain	Variation				Polyphen‐2	Mutation Taster	SIFT	ExAC
Gene	Exon	Domain	Nucleotide ^a	Amino acid ^a	Type	Status	Polyphen‐2	Mutation Taster	SIFT	ExAC
POU4F3	2	POU	c.593G>A	p.R198H	Missense	Heter	1	0.999848	0	Novel
POU4F3	2	POU	c.704_705del	p.235_235del	Frameshift	Heter	0.842	0.999824	0	Novel

Abbreviations: c, variation at cDNA level; ExAC, Exome Aggregation Consortium; Heter, heterozygote; p, variation at protein level; POU4F3, POU class 4 homeobox 3 (NM_002700).

^{^a}

All nucleotide and amino acid are abbreviated according to the International Union of Pure and Applied Chemistry (IUPAC).