FIGURE

Fig 1

ID

ZDB-FIG-191230-1274

Publication

Chen et al., 2019 - A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing

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Fig 1

Identification of potential causative mutation by whole exome sequencing.

(A), Family pedigree. Filled symbol indicates individual suffering from non-syndromal primary microcephaly and intellectual disability. (B), Traditional Sanger sequencing validated the identified SNRPE/SmE mutation (c.65T>C (p.Phe22Ser)). The red box labels the de novo heterozygous mutation. (C), Alignment of SNRPE/SmE protein sequences across different species. The red rectangle indicates the mutated residue.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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