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Proteins with EGF-like domains often consist of more than 1, amino acids, have multiple copies of the EGF-like domain, and contain additional domains known to be involved in specific protein-protein interactions. To identify proteins containing EGF-like domains, Nakayama et al. Nakayama et al. The predicted Megf1 protein has a signal sequence, 34 cadherin motifs seea laminin G domain see2 EGF-like domains, a transmembrane domain, a cytoplasmic proline-rich sequence, and a cytoplasmic RGD arginine-glycine-aspartic acid motif, which is found in proteins modulating cell adhesion.

The predicted Fat dating Gjovik of Megf1 is similar overall to the structures of the Drosophila 'fat' gene product and human FATalthough the number of EGF-like domains varies among these proteins. The Drosophila fat gene is a tumor suppressor gene whose product controls cell proliferation and morphogenesis in the imaginal discs in a contact-dependent manner.

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By sequence analysis, Wu and Maniatis determined that the FAT2 protein contains 4, amino acids.

Nibbeling et al. By genomic sequence analysis, Wu and Maniatis determined that the FAT2 gene contains 23 exons and spans approximately 60 kb.

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Like other protocadherin genes, FAT2 has multiple ectodomains encoded by single, large exons ectodomains 1 to 9 and 16 to 27 are encoded by exons 1 and 9, respectivelywhile the other ectodomains are interrupted by introns.

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The family was 1 of 20 unrelated families with autosomal dominant SCA who underwent whole-exome sequencing. A second heterozygous missense mutation RQ; This patient was 1 of 96 individuals with SCA who were screened with a gene panel.

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The mutation was found by exome sequencing using a gene panel and confirmed by Sanger sequencing. Katoh, Y.