Table 4 GAD1 single nucleotide substitutions detected on mutation analysis and occurring in sequences submitted to NCBI SNP database and in the literature. This is not a definitive list, but includes those described at the time of the mutational analysis. *Nucleotide positions were not provided by Maestrini et al. [47].
Source | SNP position in mRNA, from the translational start site (bp) | Gene position of SNP(bp) | Amino acid change |
|---|---|---|---|
(A)Lappalainen et al. (2002) | A(-478)Del | Exon 0 (73) | No substitution |
(B)Lappalainen et al. (2002) | G(-147)A | Exon 0 (404) | No substitution |
(C)Lappalainen et al. (2002) | A(-39)C | Exon 1 (25) | No substitution |
(D)Spastic CP patients family B | G(36)C | Exon 1 (97) | Ser(12)Cys |
(E)NCBI collated resource | G(48)C | Exon 1 (104) | Pro(17)Ala |
(F)Control samples & family A NCBI collated resource | T(110)C | Exon 2 (29) | No substitution |
(G)Kure et al. (1998) | T(315)C | Exon 4 (14) | No substitution |
(H)Bu and Tobin (1994) Kure et al. (1998) | A(407)G | Exon 4 (105) | No substitution |
(I)Maestrini et al. (2002)* | G/C | Intron 4 | No substitution |
(J)NCBI collated resource | C(696)T | Exon 6 (56) | No substitution |
(K)Lappalainen et al. (2002) | T/Del | Intron 7 (35) | No substitution |
(L)In control samples Lappalainen et al. (2002) | T/C | Intron 8 (185) | No substitution |
(M)Maestrini et al. (2002)* | C/T | Intron 9 | No substitution |