Two novel TSC2 mutations in Chinese patients with tuberous sclerosis complex

[5] The most likely type is the inclusion of intronic sequences in the mature mRNA which would introduce a premature stop codon (TAG) at nucleotide position c.975 + 109_111, resulting in the premature truncation of the tuberin protein which lacks two coiled-coil domains (C-C) for protein-protein int...

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Published in:Indian journal of dermatology, venereology, and leprology venereology, and leprology, 2013-01, Vol.79 (1), p.104
Main Authors: You, Jiabao, Liu, Hong, Fu, Xi'an, Chen, Mingfei, Niu, Guiye, Tian, Hongqing, Zhang, Furen
Format: Article
Language:English
Subjects:
Adolescent
Asian Continental Ancestry Group
Calmodulin
Child
Child, Preschool
Female
Gene mutations
Genes
Genetic aspects
Genetics
Health aspects
Humans
Male
Mutation
Mutation, Missense - genetics
Physiological aspects
Proteins
Tuberous sclerosis
Tuberous Sclerosis - genetics
Tuberous Sclerosis - pathology
Tumor Suppressor Proteins - genetics
Young Adult
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Summary:[5] The most likely type is the inclusion of intronic sequences in the mature mRNA which would introduce a premature stop codon (TAG) at nucleotide position c.975 + 109_111, resulting in the premature truncation of the tuberin protein which lacks two coiled-coil domains (C-C) for protein-protein interactions with hamartin, two transcription-activating domains (TAD), GAP homology, and calmodulin (CaM)-binding domains [Figure 2]c. As these domains are functionally important and the patient exhibited no mutation except c.975 + 1 G >T, the splice site mutation was regarded as a causative mutation.
ISSN:0378-6323
0973-3922
1998-3611
DOI:10.4103/0378-6323.104680