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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].

From: Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders

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