PNPT1

Gene name: polyribonucleotide nucleotidyltransferase 1
OMIM ID: 610316
Chromosome location: 2p15

Mutations

Disease/Phenotype	Deafness, Nonsyndromic Sensorineural, Mitochondrial
Reference transcript	NM_033109.4
DNA Change	c.1424A>G
A.A. Change	p.Glu475Gly
Exon/Intron	exon 17
Mutation Type	substitution
Reference	von Ameln S, Wang G, Boulouiz R, Rutherford MA, Smith GM, Li Y, Pogoda HM, N?rnberg G, Stiller B, Volk AE, Borck G, Hong JS, Goodyear RJ, Abidi O, N?rnberg P, Hofmann K, Richardson GP, Hammerschmidt M, Moser T, Wollnik B, Koehler CM, Teitell MA, Barakat A, Kubisch C.A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss. Am J Hum Genet. 2012 Oct 16. pii: S0002-9297(12)00476-4.

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