Table 2.

Frequency of mutated TPP1/CLN2 alleles in the three subgroups of TPP1-deficient patients.

	Mutations	No. of alleles	Subgroup I	Subgroup II	Subgroup III	Overall %
Worldwide mutations	I7 c.887-10A>G (Bessa et al., 2008)	7	n=0	n=3	n=4	14
	E6 p.Arg208* (Sleat et al., 1999)	6	n=4	n=1	n=1	12
	E3 p.Gln66* (Sleat et al., 1999)	3	n=0	n=2	n=1	6
	E8 p.Arg339Gln (Kousi et al., 2012)	2	n=2	n=0	n=0	4
	E11 p.Ser475Leu (Sleat et al., 1999)	2	n=0	n=1	n=1	4
	I2 c.89+5G>C (Kousi et al., 2012)	2	n=0	n=2	n=0	4
	I5 c.509-1G>C (Sleat et al., 1999)	1	n=1	n=0	n=0	2
	E11 p.Arg447His (Sleat et al., 1999)	1	n=0	n=1	n=0	2
South American mutations	E7 p.Asp276Val (Kohan et al., 2009)	14	n=9	n=1	n=4	28
	E4 p.Leu104* (Kohan et al., 2008; Kohan et al., 2009)	3	n=3	n=0	n=0	6
	E8 p.Arg350Trp	2	n=1	n=1	n=0	4
	E11 p.Ala453Val (Kohan et al., 2009)	2	n=1	n=0	n=1	4
	E11 p.Ala453Asp	2	n=0	n=2	n=0	4
	E13 p.Gly535Arg	2	n=1	n=1	n=0	4
	E9 c.1107-1108delTG	1	n=0	n=1	n=0	2
		50	n=22	n=16	n=12	100%

Reference sequence: GenBank ID: AF017456.1