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

Lynex et al. BMC Neurology 2004 4:20   doi:10.1186/1471-2377-4-20