* - Mutations Found in Our Study Population

Table. Summary of the 112 AGL gene mutations identified GSD III patients in the literature and in our study subjects and their predicted effects. Current nomenclature has been used to describe mutations17, 18. Exons labeled according to Bao et al9

ALLELE LOCATION NUCLEOTIDE CHANGE PREDICTED EFFECT ETHNICITY REFERENCES FREQUENCY

NONSENSE MUTATIONS

25.7% of GSD Exon 3 c.16C>T* p.Gln6X* Caucasian 12 IIIb alleles4 Exon 4 c.94C>T p.Gln32X 1 or 2 Unknown 13 Chinese, Mixed Exon 4 c.100C>T*a p.Arg34X*a 5 European 20, 24

Mixed Exon 4 c.118C>T* p.Gln40X* 1 European Novel

African- Exon 4 c.256C>T* p.Gln86X* 2 13 American Exon 5 c.371T>Aa p.Leu124Xa 5 Japanese 45, 46

Exon 7 c.765G>A p.Trp255X 1 German 28 Italian, Exon 8 c.853C>T p.Arg285X 5 Japanese, 44, 46, 47 Korean Exon 10 c.1118G>A p.Trp373X 2 Turkish 48 100% in Faroe Chinese, Exon 11 c.1222C>T p.Arg408X 11, 26 islands11 Faroese Exon 11 c.1264A>T p.Lys422X 2 Italian 44

Exon 13 c.1589C>Ga p.Ser530Xa 1 Mediterranean 20 Turkish, Mixed Exon 15 c.1783C>T* p.Arg595X* 3 48 European Exon 16 c.1999C>T p.Gln667X 3 Turkish 48

Exon 17 c.2039G>A* p.Trp680X* 3 Mixed European 12

Exon 17 c.2155C>T* p.Gln719X* 1 Novel Mixed European 13 (10.5% Exon 21 c.2590C>T* (c.2589C>T) p.Arg864X* Mixed European 12, 28, 49 alleles12) Exon 22 c.2728C>T p.Arg910X 1 Italian 44

Exon 23 c.2929C>T p.Arg977X 1 Italian 44

Exon 26 c.3297G>A* p.Trp1099X* 2 Asian Indian Novel

Exon 27 c.3444C>Ga p.Tyr1148Xa 1 Japanese 24

Exon 28 c.3613C>T p.Gln1205X 2 Turkish 48

Exon 28 c.3652C>Ta p.Arg1218Xa 3 Mediterranean 20 3 (5.2% of Exon 28 c.3682C>T p.Arg1228X Caucasian 12 alleles12) 19 (26% of Turkish, Mixed Exon 31 c.3980G>A*a p.Trp1327X*a Turkish European, North 21, 27-29, 48 alleles48) African Exon31 c.4126C>T p.Gln1376X 6 Turkish 48

Exon 32 c.4193G>Aa p.Trp1398Xa 2 Mediterranean 20

MISSENSE MUTATIONS

Exon 5 c.413G>A* p.Gly138Glu* 1 Mixed European Novel

Exon 7 c.700T>Ca p.Cys234Arg 2 Italian 21

Exon 7 c.757G>C* p.Ala253Pro* 1 Mixed European Novel

Exon 11 c.1199T>C* p.Leu400Pro* 2 Caucasian Novel

Exon 11 c.1283G>A (c.1282G>A) p.Arg428Lys 1 Italian 49

Exon 13 c.1481G>A*b p.Arg494His*b 1 Caucasian Novel

Exon 13 c.1571G>A p.Arg524His 1 Italian 44

Exon 15 c.1859T>C p.Leu620Pro 2 Egyptian 32, 50 Exon 16 Not reported p.Gly655Arg 1 Caucasian 39

Exon 17 c.2023C>Ta p.Arg675Trpa 1 Tunisian 21

Exon 25 c.3259G>C (c.3258G>C) p.Gly1087Arg 2 Tunisian 49

Exon 26 c.3358G>C p.Ala1120Pro 1 Italian 44

Exon 27 c.3439A>G p.Arg1147Gly 2 Turkish 32

Exon 31 c.4090G>C p.Asp1364His 1 Korean 47

Exon 33 c.4342G>Ca p.Gly1448Arga 2 Japanese 51

Exon 35 c.4543T>C* p.Cys1515Arg* 1 Mixed European Novel

INTRONIC SPLICING MUTATIONS Disrupts donor splice Intron 4 c.293+1delG* 2 Mixed European Novel site* Skipping of exon 4, out Intron 4 c.293+2T>A (IVS4+2T>A) 4 Italian, Turkish 30, 48 of frame Disrupts donor splice Intron 4 c.293+2T>G Turkish 48 site Skipping of exon 6, in Intron 5 c.294-2A>C (IVS5-2A>C) 1 Japanese 52 frame Skipping of exon 6, in Intron 6 c.664+3A>G (IVS6+3A>G) 7 Italian 21, 44 frame 4 (2 Disrupts donor splice Intron 7 c.846+5G>A (IVS7+5G>A) homozygous Turkish 28 site sibs) Disrupts donor splice Intron 8 c.958+1G>A 2 Turkish 48 site c.1735+1G>T* Skipping exon 14, out Japanese, Intron 14 7 17, 35, 36, 43 (IVS14+1G>T) of frame* Chinese, Korean Disrupts acceptor Intron 18 c.2309-1G>A* 4 Mixed European Novel splice site* Japanese, c.2681+1G>A* Skipping exon 21, in 16 (23% of German, 20-22, 28, 30, Intron 21 (IVS21+1G>A) frame* alleles22) Mediterranean, 31 Asian Indian Disrupts donor splice Intron 21 c.2681+1G>T* 4 Mexican Novel site* c.2681+5insA Disrupts donor splice Intron 21 2 Turkish 28 (IVS21+5insA) site Disrupts donor splice Southeast Intron 25 c.3259+3A>T* 2 Novel site* Asian c.3362+1G>C Skipping exon 26, out Intron 26 2 Italian 30 (IVS26+1G>C) of frame c.3837-1G>A Activation of cryptic Intron 29 2 (sibs) Japanese 45 (IVS29-1G>A) splice site c.3837-17T>A Possible activation of Intron 29 1 Caucasian 39 (IVS29-17T>A) cryptic splice site c.4161+5G>A Intron 31 Unknown 1 Caucasian 39 (IVS31+5G>A) Japanese, c.4260-12A>G* Insertion of 11bp, 15 (5.5% of Intron 32 Chinese, 13, 24, 25 (IVS32-12A>G) p.1436X* alleles13) Caucasian Skipping exon 33> out c.4347+5G>A of frame> 1439X; Intron 33 1 Chinese 53 (IVS 33+5G>A) activation of cryptic site> p.Asp1421_Arg1467del SMALL DUPLICATION, INSERTION, AND DELETION FRAMESHIFT MUTATIONS c.18_19delGA 74.3% of GSD Exon 3 p.Gln6HisfsX20* Caucasian 12 (c.17_18delAG)* IIIb alleles4 p.Arg63ValfsX45 Exon 4 c.187delC 1 Japanese 45 (p.107X)

Exon 4 c.276delGa p.Gln92HisfsX16 1 Mediterranean 20

Exon 5 c.410_413delTGGG* p.Leu137TyrfsX20* 1 Mixed European Novel

Exon 5 c.442delA p.Arg148GlyfsX10 2 Italian 44

Exon 6 c.555_556delTT* p.Ser186LysfsX3* 1 Caucasian Novel

Exon 7 c.750-753delAGAC p.Asp251GlufsX23 2 Egyptian 27

Exon 7 c.753-756delGACA p.Asp251GlufsX23 1 Italian 44

Exon 7 c.672dupT (c.672insT)a p.Ser225Xa 2 (sibs) Mediterranean 20 Caucasian, Exon 9 c.1019delA p.Glu340AspfsX9 6 28, 48 Turkish

Exon 10 c.1117-1120delTCAA Exon 11 skipping 2 Unknown 54 Northern Exon 11 c.1276delG* p.Val426LeufsX12* 1 European/ Novel Mexican-Spanish Exon 12 c.1384delG* p.Val462X* 4 Hispanic Novel

c.1391dupG (c.1389insG; Egyptian, Exon 12 p.Asp465Arg 1 50, 55 c.1391-1392insG) Korean p.Thr558AsnfsX4 Exon 14 c.1672insAa 1 Japanese 45 (p.561X) a

Exon 16 c.1859-1869del 11bp p.Leu620HisfsX4 2 Iran 28

p.Gln667ArgfsX63 Exon 16 c.1999delCa 1 Japanese 53 (p.729X)a

Exon 17 c.2147delGa p.Gly716ValfsX14a 1 Italian 21

Exon 18 c.2223-2224delGT p.Gln741HisfsX7 1 Egyptian 50

Exon 19 c.2368dupA (c.2368insA) p.Arg790LysfsX4 2 Egyptian 50

Exon 21 c.2673delT p.Phe892LeufsX8 2 Egyptian 27

p.Gln906ProfsX5 Exon 22 c.2715-2719delTCAGA 2 Chinese 26 (p.910X)

Exon 23 c.2894_2896delGGAinsTG p.Trp965LeufsX2 1 Korean 47

p.Cys1005PhefsX7 Exon 24 c.3014delG* 1 Caucasian 13 (p.1011X)*

Exon 24 c.3049dupA* p.Thr1017AsnfsX53* 1 Caucasian Novel

Exon 25 c.3110dupT* p.Lys1038GlufsX32* 2 Asian Indian Novel

Exon 25 c.3144_3145delTG* p.Cys1048TrpfsX21* 2 Asian Indian Novel

Exon 25 c.3202_3203delTA p.Tyr1068X 2 Afghan 28

Exon 25 c.3216_3217delGA* p.Glu1072AspfsX36* 1 Unknown Novel African- Exon 27 c.3554delC* p.Thr1185LeufsX42* 1 Novel American p.Ala1222ValfsX5 Exon 28 c.3665delC 1? Unknown 13 (p.1226X)

Exon 28 c.3678_3681delAGAT* p.Asp1227GlufsX3* 2 Asian Indian Novel

p.Gly1273AsnfsX18 Exon 29 c.3816_3817delAGa 3 Japanese 45, 46 (p.1290X) p.Arg1279GlufsX11 Exon 29 c.3834delAa 2 Japanese 52 (p.1289X) a c.3911dupA (c.3911insA; p.Asn1304LysfsX7 Ashkenazi Exon 30 2 44, 49, 56 c.3904insA)c (p.1310X)c Jewish, Italian

Exon 31 c.3963delG p.Val1322SerfsX27 1 Italian 44 African p.Val1322AlafsX27 8 (6.7% of Exon 31 c.3965delT (c.3964delT) American, 13 (p.1348X) alleles13) Caucasian Exon 31 c.4043delT (c.4041delT) p.Leu1348X 2 Egyptian 50

p.Leu1408IlefsX14 Exon 32 c.4221dupA (c.4214insA) 1 Ashkenazi Jew 56 (p.1421X)

Exon 33 c.4324insAAa p.Gly1442LysfsX28a 3 Mediterranean 20 Mixed European/America Exon 33 c.4422delT* p.Ala1475GlnfsX4* 1 n Indian Novel

p.Ser1486ProfsX18 North African Exon 34 c.4455delT 100% 10 (p.1503X) Jews p.Tyr1510X Exon 35 c.4529dupA (c.4529insA)* 4 Caucasian 12 (p.Tyr1510X)* SMALL INFRAME DELETIONS AND INSERTIONS

Exon 12 Not reported p.delVal491_Arg494 1 Caucasian 29

Exon 16 c.1939_1941delTTG p.Val647del 1 Unknown 13

Exon 33 c.4335insTATa p.Tyr1445insa 1 Japanese 45

LARGE DELETIONS, DUPLICATIONS AND COMPLEX REARRANGEMENTS African- Exon 3 g.Exon 3 deletion* Exon 3 deletion* 2 Novel American Exon 9 c.966dup68*b Duplication/Frameshift* 2 Caucasian Novel c.3481- Exon 27 No mRNA detected 2 Egyptian 50 3588+1417del1525bp c.3512_3549dup + Amino acid Exon 27 1 Italian 49 3512_3519del rearrangement * - Mutations found in our study population. a – The nucleotide position for these mutations was originally reported to include 400bp 5’UTR, upstream from the ATG start codon. b - Variant found in study subjects with two known pathogenic mutations. c- Same mutation but with different nomenclature used for nucleotide position in different publications. ( )- If new nomenclature has been used to describe a specific mutation, parentheses indicate original nomenclature used when the mutation was initially reported.

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