Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

PNPT1

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

Mutations

Disease/PhenotypeDeafness, Nonsyndromic Sensorineural, Mitochondrial
Reference transcriptNM_033109.4
DNA Changec.1424A>G
A.A. Changep.Glu475Gly
Exon/Intronexon 17
Mutation Typesubstitution
Referencevon 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.