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

HEXA

Gene name: hexosaminidase A (alpha polypeptide)
OMIM ID: 606869
Chromosome location: 15q23

Mutations

Disease/PhenotypeTay-Sachs disease
Reference transcriptNM_000520.4
DNA Changec.509G>A
A.A. Changep.Arg170Gln
Exon/Intronexon 5
Mutation Typesubstitution
ReferenceDrucker L, Proia RL, Navon R.Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.
Am J Hum Genet. 1992 Aug;51(2):371-7.

Disease/PhenotypeTay-Sachs disease
Reference transcriptNM_000520.4
DNA Changec.540C>G
A.A. Changep.Tyr180X
Exon/Intronexon 5
Mutation Typesubstitution
ReferenceDrucker L, Proia RL, Navon R.Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.
Am J Hum Genet. 1992 Aug;51(2):371-7.

Disease/PhenotypeTay-Sachs disease
Reference transcriptNM_000520.4
DNA Changec.913_915delTTC
A.A. Changep.304_305delPhe
Exon/Intronexon 8
Mutation Typedeletion
ReferenceNavon R, Proia RL.Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase.
Am J Hum Genet. 1991 Feb;48(2):412-9.