Mendelian Diseases
Multifactorial Diseases
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

ATP6V1B1

Gene name: ATPase H+ transporting V1 subunit B1
OMIM ID: 192132
Chromosome location: 2p13.3

Mutations

Disease/PhenotypeRenal tubular acidosis with deafness
Reference transcriptNM_001692.3
DNA Changec.1155_1156insC
A.A. Changep.I386fsX441
Exon/Intronexon 12
Mutation Typeinsertion
ReferenceStover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, Giersch AB, Morton CC, Axon PR, Akil I, Al-Sabban EA, Baguley DM, Bianca S, Bakkaloglu A, Bircan Z, Chauveau D, Clermont MJ, Guala A, Hulton SA, Kroes H, Li Volti G, Mir S, Mocan H, Nayir A, Ozen S, Rodriguez Soriano J, Sanjad SA, Tasic V, Taylor CM, Topaloglu R, Smith AN, Karet FE.Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
J Med Genet. 2002 Nov;39(11):796-803.
Disease/PhenotypeRenal tubular acidosis with deafness
Reference transcriptNM_001692.3
DNA Changec.1169dupC
A.A. Changep.Ser391Phefs*51
Exon/Intronexon 11
Mutation Typeduplication
ReferenceBoualla L, Jdioui W, Soulami K, Ratbi I, Sefiani A. Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene.
Curr Res Transl Med. 2016 Jan-Mar;64(1):5-8. doi: 10.1016/j.retram.2016.01.005. Epub 2016 Feb 11.