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Table 2 Description of the identified DNMs in proband SZ-HU-PROB

From: Investigation of de novo mutations in a schizophrenia case-parent trio by induced pluripotent stem cell-based in vitro disease modeling: convergence of schizophrenia- and autism-related cellular phenotypes

Genomic position

1:70505093G>A

19:6416869C>A

19:55286658A>T

Gene

LRRC7

KHSRP

KIR2DL1

Variation type

Missense

Missense

Missense

Amino acid change

Val1158Ile

Gly403Cys

Thr138Ser

Conservation of nucleotide

Weak

High

Not conserved

Conservation of amino acid

High

Moderate

Weak

SIFT

Tolerated (score 0.37, median 4.32)

Deleterious (score 0.03, median 3.54)

Tolerated (score 0.73, median 3.01)

Mutation taster

Polymorphism (p value 0.999)

Disease causing (p value 0.996)

Polymorphism (p value 1)