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(A) Segregation of mutations in TMEM231 in JBTS families.

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Presentation on theme: "(A) Segregation of mutations in TMEM231 in JBTS families."— Presentation transcript:

1 (A) Segregation of mutations in TMEM231 in JBTS families.
(A) Segregation of mutations in TMEM231 in JBTS families. (B) Brain MRI from individual II-1 from family 387 showing the ‘molar tooth sign’. (C) Left panel, scheme showing the presence of the mutations with respect to the different TMEM231 Ensemble-annotated transcripts predicted to produce proteins; right panel, the corresponding TMEM231 proteins are depicted in the right panel. TM, denotes the presence of a transmembrane domain, as predicted by SMART algorithm. (D) Amino acid conservation of the residues affected by the p.Tyr4* and p.Asp209Asn mutations in TMEM231. Amino acid alignments were generated using homologene (NCBI). Myriam Srour et al. J Med Genet 2012;49: ©2012 by BMJ Publishing Group Ltd

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