Table 2. The characterization of the... | Rockefeller University Press

Table 2.

The characterization of the CMT2A mutation

	Mutated gene	Position	Amino acid change	Zygosity	Inheritance	1000 Genomes Minor Allele Frequency
Confirmed mutation	KIF1B	CHR1: 10387567	Y1087C	Heterozygote	Autosomal dominant	0.0395
Analyzed genes	AARS (601065), ATL1 (606439), DNM2 (602378), DNMT1 (126375), DYNC1H1 (600112), EGR2 (129010), FGD4 (611104), GARS (600287), GDAP1 (606598), GJB1 (304040), GLA (300644), HSPB1 (602195), HSPB8 (608014), KIF1B (605995), LITAF (603795), LMNA (150330), LRSAM1 (610933), MED25 (610197), MFN2 (608507), MPZ (159440), MTMR2 (603557), NDRG1 (605262), NEFL (162280), PMP22 (601097), PRX (605725), RAB7A (602298), SBF2 (607697), SCN9A (603415), SH3TC2 (608206), SPTLC2 (605713), TRPV4 (605427), TTR (176300), and YARS (603623)

	Mutated gene	Position	Amino acid change	Zygosity	Inheritance	1000 Genomes Minor Allele Frequency
Confirmed mutation	KIF1B	CHR1: 10387567	Y1087C	Heterozygote	Autosomal dominant	0.0395
Analyzed genes	AARS (601065), ATL1 (606439), DNM2 (602378), DNMT1 (126375), DYNC1H1 (600112), EGR2 (129010), FGD4 (611104), GARS (600287), GDAP1 (606598), GJB1 (304040), GLA (300644), HSPB1 (602195), HSPB8 (608014), KIF1B (605995), LITAF (603795), LMNA (150330), LRSAM1 (610933), MED25 (610197), MFN2 (608507), MPZ (159440), MTMR2 (603557), NDRG1 (605262), NEFL (162280), PMP22 (601097), PRX (605725), RAB7A (602298), SBF2 (607697), SCN9A (603415), SH3TC2 (608206), SPTLC2 (605713), TRPV4 (605427), TTR (176300), and YARS (603623)