. 2020 Jul 22;8(10):e1413. doi: 10.1002/mgg3.1413

Table 2.

In silico prediction of pathogenicity of p.(Val390Val) in the family

Variant	Gene/genomic position	Zygosity	HSF	Mutation taster	BDGP	NetGene2	Mutpred splice	1 K Genome	ExAC	Iranome	PROVEAN
c.1170G>A; p.(Val390Val)	TSEN54 (g.73518332G>A)	Hom.	Het.	Het.	Alteration of an exonic ESE site. Potential alteration of splicing. (ESE Site Broken)	Disease‐causing Donor gained	Creates a donor site	Creates a donor site (Confidence 0.88)	Cryptic 5′ SS (p = 0.0028). The variant disrupts splicing.	N.R	N.R	N.R	Neutral

Variant

Gene/genomic position

Zygosity

HSF

Mutation taster

BDGP

NetGene2

Mutpred splice

1 K Genome

ExAC

Iranome

PROVEAN

Patients (V.1 and V.2)

Mother (IV.4)

Father (IV.5)

c.1170G>A; p.(Val390Val)

TSEN54 (g.73518332G>A)

Hom.

Het.

Alteration of an exonic ESE site.

Potential alteration of splicing. (ESE Site Broken)

Disease‐causing

Donor gained

Creates a donor site

Creates a donor site (Confidence 0.88)

Cryptic 5′ SS (p = 0.0028).

The variant disrupts splicing.

N.R

Neutral

Abbreviations: Het, heterozygote; Hom, homozygote; N.R, not reported.