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. 2020 Mar 25;20:135. doi: 10.1186/s12888-020-02513-3

Table 2.

Detailed information of rare mutations detected in this study

Variants Variants status SIFT Polyphen-2 MutationTaster Novel or not Individuals Gender group
c.712C > T/p.(Arg238Cys) Heterozygous D D D rs749613196 55S0720 Female SCZ
c.393C > G/p.(Ile131Met) Heterozygous T D N novel QLS422 Male SCZ
c.353C > T/p.(Ala118Val) Heterozygous T B N rs749459608 QLS027 Male SCZ
c.487G > A/p.(Gly163Arg) Heterozygous D D N rs553167245 55S0033 Male SCZ
DI128 Female
Q17030 Female control
Q16488 Male
c.278C > G/p.(Ser93Cys) Heterozygous T B N rs148226429 QLS295 Male SCZ
55S0268、QLS255 Female
Q16484 Male control
c.197A > G/p.(Glu66Gly) Heterozygous T B N novel Q17228 Female control
c.154G > A/p.(Ala52Thr) Heterozygous T B N rs766190226 Q16630 Male control

SCZ Schizophrenia, D Deleterious for SIFT_pred,Probably damaging for Polyphen-2_pred, disease_causing for MutationTaster_pred; T Tolerated, B Benign