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Table 1 Human disease mutations in GSD3 and GSD4 and their counterparts in other species

From: Phylogenomic analysis of glycogen branching and debranching enzymatic duo

 

Branching enzyme (EC 2.4.1.18)

Debranching enzyme (EC 3.2.1.33)

Human disease

 

GSD4

GSD4/APBD

GSD4

 

GSD3

Human disease mutation position

 

224

257

329

515

524

545

628

 

1147

1448

Human disease mutation

 

L-P

F-L

Y-S

R-C/H

R-Q

H-R

H-R

 

R-G

G-R

 

Protein Acc.

Gene

Alpha-amylase

Intra-domain

AC

Protein Acc.

Gene

GDE_C

Animals

H. sapiens

Q04446

GBE1

L

F

Y

R

R

H

H

P35573

AGL

R

G

M. musculus

Q9D6Y9

Gbe1

L

F

Y

R

R

H

H

F8VPN4

 

R

G

D. rerio

XP_687620

 

L

F

Y

R

R

H

H

NP_001166124

 

R

G

C. elegans

Q22137

 

L

F

Y

R

R

H

H

O62334

agl-1

R

G

D. melanogaster

A1Z992

AGBE

V

Y

Y

R

R

H

H

E1JGQ5

 

R

G

A. queenslandica

I1FQH3

 

L

H

Y

R

R

H

H

I1FDE0

 

R

G

Choanoflagellida

M. brevicollis

A9URY2

 

L

F

Y

R

R

H

H

A9V544

 

R

G

Ichthyosporea

C. owczarzaki

E9C2E3

 

L

F

Y

R

R

H

H

E9CDY8

 

R

G

Filasterea

S. arctica

09810 T0

 

I

F

Y

R

R

H

H

05895 T0

 

R

G

Fungi

S. cerevisiae

P32775

GLC3

L

F

Y

R

R

H

H

Q06625

GDB1

R

G

Amoebozoa

D. discoideum

Q555Q9

glgB

L

F

Y

R

R

H

H

Q54K94

agl

R

G

Land Plants

A. thaliana

O23647

SBE2.1

L

F

Y

R

R

H

H

    

Q9LZS3

SBE2.2

L

F

Y

R

R

H

H

    

O. sativa

Q01401

SBE1

L

F

Y

R

H

H

H

    

Q6H6P8

 

L

F

Y

R

R

H

H

    

Green Algae

V. carteri

D8TIE8

glgb6

L

F

Y

R

R

H

H

    

D8U9K6

glgb7

L

F

Y

R

R

H

S

    

Red Algae

C. merolae

CMH144C

 

L

F

Y

R

R

H

H

    

Alveolata

P. tetraurelia

A0DXF8

 

L

F

Y

R

R

H

H

A0BWA0

 

R

G

T. thermophila

Q23TC5

 

L

Y

F

K

R

S

N

I7M1C6

 

R

G

Apusozoa

T. trahens

09093T0

 

L

F

Y

R

R

H

H

02577T0

 

R

G

Bacteria

B. theta

Q8A9P4

 

L

F

Y

R

R

H

N

Q89ZS3

 

E

G

E. coli

P07762

glgB

V

Y

Y

P

N

Q

T

    

N. punctiforme

B2J3N1

glgB

I

Y

Y

P

N

Q

T

    
  1. Human disease (missense) mutations responsible for the glycogen storage diseases GSD4, adult polyglucosan body disease (APBD), and GSD3, and their homologous residues in a variety of species are shown. The domains affected by the mutations are indicated in the 5th row (AC stand for Alpha-amylase_C). B. theta stands for Bacteroides thetaiotaomicron. Human mutation data were obtained from the UniProtKB and Online Mendelian Inheritance in Man databases (OMIM).