Tay-Sachs disease
OMIM:272800Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | HEXA |
|---|---|
| Reference transcript | NM_000520.4 |
| DNA Change | c.913_915delTTC |
| A.A. Change | p.304_305delPhe |
| Exon/Intron | exon 8 |
| Mutation Type | deletion |
| Reference | Navon 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. |
| Gene Symbol | HEXA |
|---|---|
| Reference transcript | NM_000520.4 |
| DNA Change | c.540C>G |
| A.A. Change | p.Tyr180X |
| Exon/Intron | exon 5 |
| Mutation Type | substitution |
| Reference | Drucker 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. |
| Gene Symbol | HEXA |
|---|---|
| Reference transcript | NM_000520.4 |
| DNA Change | c.509G>A |
| A.A. Change | p.Arg170Gln |
| Exon/Intron | exon 5 |
| Mutation Type | substitution |
| Reference | Drucker 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. |