Table 3.

Mutations in the a_m gene identified in GT patients

N	Mutation	Location	Patient	Genotype	Phenotype	Effect
1	620C→T	exon 5	OK	homozygous	missense	T207I
2	641T→C	exon 6	MM	homozygous	missense	L214P
			MU	heterozygous	missense	L214P
3	1754T→C	exon 17	DZ	homozygous	splicing site	alternative splicing
4	1878G→C	exon 18	HM	homozygous	splicing site	alternative splicing
			HS	heterozygous	splicing site	alternative splicing
			HA	heterozygous	splicing site	alternative splicing
5	2051T→G	exon 20	GE	heterozygous	missense	L684R
			CM	heterozygous	missense	L684R
6	2232Gins	exon 22	WC	heterozygous	ins. out of frame	frameshift
			WV	heterozygous	ins. out of frame	frameshift
7	3060G→A	exon 29	TA	homozygous	splicing site	alternative splicing
			TG	homozygous	splicing site	alternative splicing
			TN	heterozygous	splicing site	alternative splicing
			TF	heterozygous	splicing site	alternative splicing
8	3062T→C	exon 29	LN	homozygous	splicing site	alternative splicing
			LH	heterozygous	splicing site	alternative splicing
			LB	heterozygous	splicing site	alternative splicing
9	3062T→C	exon 29	SB	heterozygous	splicing site	alternative splicing

N = Consecutive numbering of the found mutations; ins. = insertion.