m.12258C>A, MT-TS2 (mt-tRNA^Ser(AGY)), Mitochondrial diabetes; retinitis pigmentosa with progressive sensorineural hearing loss

tRNA variant	m.12258C>A
Gene	MT-TS2 (mt-tRNA^Ser(AGY))
Disease	Mitochondrial diabetes; retinitis pigmentosa with progressive sensorineural hearing loss
Description	Severe translation defect with early onset presentation.
tRNAs	trbR00001086, tdbR00000404,
Publications	Mitochondrial diabetes: investigation and identification of a novel mutation. S Lynn, T Wardell, M A Johnson, P F Chinnery, M E Daly, M Walker, D M Turnbull Diabetes volume: 47 issue: 11 PUBMED ID: 9792552