Table 1 Forty-one disease-associated variants of PMM2-CDG

p.Cys9 Tyr

c.26G > A

Folding

Core domain

p.Thr18Ser

c.53 C > G

Catalysis

p.Arg21Gly

c.61G > C

Catalysis

p.Leu32 Arg

c.95 TA > GC

Catalysis

p.Val44 Ala

c.131 T > C

Folding

p.Asp65 Tyr

c.193G > T

Folding

p.Asn101Lys

c.303 C > G

Dimerization

Cap domain

p.Leu104 Val

c.310 C > G

Dimerization

p.Ala108 Val

c.323 C > T

Dimerization

p.Pro113Leu

c.338 C > T

Dimerization

p.Phe119Leu

c.355 C > A

Dimerization

p.Ile120 Thr

c.359 C > A

Dimerization

p.Arg123Gln

c.368 A > C

Activator binding

p.Val129Leu

c.385G > A

Folding

p.Val129Met

c.385G > A

Folding

p.Pro131 Ala

c.391 C > G

Folding

p.Ile132Phe

c.394 A > T

Folding

p.Ile132 Thr

c.395 T > C

Folding

p.Glu139Lys

c.415G > A

Uncertain

p.Arg141His

c.422G > A

Activator binding

p.Phe144Leu

c.430 T > C

Folding

p.Asp148 Asn

c.442G > A

Folding

p.Ile153 Thr

c.458 T > C

Folding

p.Phe157Ser

c.470 T > C

Folding

p.Arg162 Trp

c.484 T > C

Uncertain

p.Phe183Ser

c.548 T > C

Linker- 2

p.Gly186 Arg

c.556G > A

Linker- 2

p.Asp188Gly

c.563 A > G

Linker- 2

p.Phe207Ser

c.620 T > C

Folding

Core domain

p.Gly208 Ala

c.623G > C

Catalysis

p.Asn216Ile

c.647 A > T

Catalysis

p.Asp223 Asn

c.667G > A

Folding

p.Asp223Glu

c.669 C > G

Folding

p.Thr226Ser

c.677 C > G

Folding

p.Gly228 Cys

c.682G > T

Folding

p.Val231Met

c.691G > A

Folding

p.Thr237 Arg

c.710 C > G

Folding

p.Thr237Met

c.710 C > T

Folding

p.Arg238Pro

c.713G > C

Folding

p.Arg239 Trp

c.715 A > T

Uncertain

p.Cys241Ser

c.722G > C

Uncertain