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Table 2 In silico evaluation of five novel mutations

From: Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort

Gene

DNA change

Protein change

Mutation taster

PolyPhen-2

SIFT

MAF (gnomAD)

RAF1

c.786 T > G

p.N262K

Disease-causing

Probably damaging

Deleterious

–

RAF1

c.788 T > G

p.V263G

Disease-causing

Probably damaging

Deleterious

–

BRAF

c.1796C > T

p.T599I

Disease-causing

Probably damaging

Deleterious

–

LZTR1

c.509G > C

p.R170P

Disease-causing

Probably damaging

Deleterious

–

LZTR1

c.2374 T > G

p.C792G

Disease-causing

Probably damaging

Deleterious

–

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172