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Table 2 Distribution of missense mutations in CLN6 according to the position

From: A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report

Positions (n,%)

Domains

Missense mutations (n)

Cytosol domains (7, 22.6%)

N-terminus

3(p.Arg5Trp, p.Ala12Thr, p.Gly17Ser)

TM2-TM3 loop

2(p.Arg103Trp, p.Ser104Phe)

TM4-TM5 loop

0

TM6-TM7 loop

2(p.Arg252His, p.Gly259Val)

TM domains (10, 32.2%)

TM1

2(p.Arg62His, p.Arg62Cys)

TM2

1(p.Asn90Lys)

TM3

2(p.(Ile119_Phe120insIle), p.Gly123Asp)

TM4

1(p.Phe186Ser)

TM5

2(p.Tyr221Ser, p.Tyr221Cys)

TM6

2(p.Phe234Leu, p.Met241Thr)

TM7

0

ER luminal domains (14, 45.2%)

TM1-TM2 loop

4(p.Pro70Leu, p.Glu72Gln, p.Asp82His, p.Asp82Val)

TM3-TM4 loop

6(p.Arg136Cys, p.Arg149Cys, p.Pro159Leu, p.Leu162Arg, p.Leu169Pro, p.Tyr172Leu)

TM5-TM6 loop

0

C-terminus

4(p.Pro297Thr, p.Glu298Lys, p.Pro299Leu, p.Trp300Arg)

Total

31