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Table 1 Functional evaluation of the GLRA1 mutations detected in the family of a Chinese boy with hyperekplexia

From: A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature

Base change

Exon number

Amino acid change

PolyPhen-2 analysis

SIFT analysis

MutationTaster analysis

c.569C > T

6

p.T190M

Probably damaging

Damaging

Disease causing

c.1270G > A

9

p.D424N

Probably damaging

Damaging

Disease causing

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BMC Medical Genetics

ISSN: 1471-2350

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