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Table 1 Functional evaluation of the CLN6 mutations detected in the family of a Chinese boy with late infantile neuronal ceroid lipofuscinosis

From: A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report

Base change

Exon number

Amino acid change

PolyPhen-2 analysis

SIFT analysis

MutationTaster analysis

c.892G > A

7

p.Glu298Lys

Probably damaging

Damaging

Disease causing

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BMC Medical Genetics

ISSN: 1471-2350

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