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MYO7A mutation identified in the family L-1419
| Family | Ethnicity | Nucleotide alterationa | Amino acid alteration | Allele frequency | Domain |
|---|---|---|---|---|---|
| L-1419 | Iranian | c.1184G>Ab | p.R395H | 1/1 | Motor |
| Iranianc | c.1184G>Ab | p.R395H | 0/47 | Motor | |
| Europeanc | c.1184G>Ab | p.R395H | 0/129 | Motor |
Nucleotides numbered according to first coding ATG in exon 1.
Homozygous alteration.
Ethnically matched control subjects.
Centre d'Etude du Polymorphisme Humain (CEPH) control.
