SAMHD1
Gene name: SAM domain and HD domain 1OMIM ID: 606754
Chromosome location: 20q11.23
Mutations
| Disease/Phenotype | Aicardi-Goutieres syndrome 5 |
|---|---|
| Reference transcript | NM_015474.3 |
| DNA Change | c.1153A>G |
| A.A. Change | p.Met385Val |
| Exon/Intron | exon 10 |
| Mutation Type | substitution |
| Reference | Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, et al,Mutations involved in Aicardi-Gouti?res syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet. 2009 Jul;41(7):829-32. |
| Disease/Phenotype | Aicardi-Goutieres syndrome 5 |
|---|---|
| Reference transcript | NM_015474.3 |
| DNA Change | c.428G>A |
| A.A. Change | p.Arg143His |
| Exon/Intron | exon 4 |
| Mutation Type | substitution |
| Reference | Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, et al,Mutations involved in Aicardi-Gouti?res syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet. 2009 Jul;41(7):829-32. |