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. 2015 Mar 11;10(3):e0118001. doi: 10.1371/journal.pone.0118001

Table 1. EIF2B1-5 mutations in 34 gene-confirmed VWM patients.

Case Phenotype Gene Exons Nucleotide change Amino-acid change Novel / reported Parental derivation Pathogenicity Prediction
PolyPhen2 (Score) SIFT (Score) MutationTaster
1 early childhood EIF2B3 2 c.140G>A p.Gly47Glu reported paternal / / /
9 c.1037T>C p.IIe346Thr reported maternal / / /
2 infantile EIF2B5 7 c.943C>T p.Arg315Cys reported maternal / / /
7 c.943C>T p.Arg315Cys reported paternal / / /
3 infantile EIF2B5 7 c.1126A>G p.Asn376Asp reported maternal / / /
9 c.1340C>T p.Ser447Leu reported paternal / / /
4 early childhood EIF2B5 6 c.805C>T p.Arg269* reported maternal / / /
7 c.1004G>C p.Cys335Ser reported / / / /
5 early childhood EIF2B3 7 c.674G>A p.Arg225Gln reported maternal / / /
7 c.674G>A p.Arg225Gln reported paternal / / /
6 juvenile EIF2B5 1 c.185A>C p.Asp62Val reported paternal / / /
7 c.1016G>C p.Arg339Pro reported maternal / / /
7 early childhood EIF2B5 8 c.1157G>T p.Gly386Val reported maternal / / /
13 c.1827–1838del p.S610-D613del reported / / / /
8 early childhood EIF2B3 9 c.1037T>C p.IIe346Thr reported paternal / / /
9 c.1037T>C p.IIe346Thr reported / / / /
9 infantile EIF2B3 9 c.1037T>C p.IIe346Thr reported maternal / / /
/ / / / / / / /
10 early childhood EIF2B5 3 c.337C>A p.Arg113Cys reported maternal / / /
6 c.806G>A p.Arg269Gln reported paternal / / /
11 early childhood EIF2B3 9 c.1037T>C p.IIe346Thr reported maternal / / /
9 c.1037T>C p.IIe346Thr reported paternal / / /
12 infantile EIF2B2 2 c.254T>A p.Val85Glu reported paternal / / /
8 c.922G>A p.Val308Met reported maternal / / /
13 infantile EIF2B4 10 c.1180C>T p.Leu394Phe reported / / / /
10 c.1180C>T p.Leu394Phe reported / / / /
14 early childhood EIF2B5 6 c.806G>A p.Arg269Gln reported maternal / / /
7 c.915G>A p.Met305Ile novel / possibly damaging (0.728) affect protein function(0.00) disease causing
15 early childhood EIF2B3 8 c.935G>A p.Arg312Gln novel maternal probably damaging (0.999) affect protein function(0.00) disease causing
9 c.1037T>C p.IIe346Thr reported paternal / / /
16 infantile EIF2B4 6 c.691G>A p.Gly231Ser novel paternal probably damaging (0.998) affect protein function(0.00) disease causing
12 c.1459C>T p.Arg487Trp reported maternal / / /
17 early childhood EIF2B3 9 c.1037T>C p.IIe346Thr reported paternal / / /
10 c.1106_1113del p.S369Sfs*13 novel maternal Frameshift
18 early childhood EIF2B5 7 c.943 C>T p.Arg315Cys reported paternal / / /
7 c.943 C>T p.Arg315Cys reported maternal / / /
19 infantile EIF2B5 1 c.185 A>T p.Asp62Val reported maternal / / /
10 c.1518delA p.E506fs*52 novel paternal Frameshift
20 infantile EIF2B5 9 c.1340C>T p.Ser447Leu reported paternal / / /
9 c.1340 C>T p.Ser447Leu reported maternal / / /
21 infantile EIF2B5 6 c.806G>A p.Arg269Gln reported paternal / / /
6 c.806G>A p.Arg269Gln reported maternal / / /
22 juvenile EIF2B4 12 c.1382A>G P.Tyr461Cys novel maternal possibly damaging (0.559) affect protein function(0.00) disease causing
13 c.1565C>T p.Thr522Met novel paternal probably damaging (1.000) affect protein function(0.00) disease causing
23 early childhood EIF2B4 12 c.1306T>A p.Ser416Thr novel paternal possibly damaging (0.880) affect protein function(0.00) disease causing
12 c.1397G>A p.Arg446His novel / probably damaging (0.980) affect protein function(0.00) disease causing
24 early childhood EIF2B4 10 c.1180C>T p.Leu394Phe reported paternal / / /
10 c.1180C>T p.Leu394Phe reported maternal / / /
25 early childhood EIF2B3 9 c.1037T>C p.IIe346Thr reported maternal / / /
/ / / / / / / /
26 infantile EIF2B3 2 c.32G>T p.Gly11Val reported paternal / / /
2 c.32G>T P.Gly11Val reported maternal / / /
27 juvenile EIF2B2 6 c.818A>G p.Lys273Arg reported / / / /
8 c.922 G>A p.val308Met reported maternal / / /
28 early childhood EIF2B2 2 c.254T>A p.Val85Glu reported paternal / / /
8 c.995C>T p.Ala332Val novel maternal benign (0.450) affect protein function(0.00) disease causing
29 early childhood EIF2B1 4 c.328A>G p.Lys110Glu novel / probably damaging (0.973) affect protein function(0.00) disease causing
4 c.328A>G p.Lys110Glu novel maternal probably damaging (0.973) affect protein function(0.00) disease causing
30 early childhood EIF2B2 2 c.254T>A p.Val85Glu reported maternal / / /
6 c.818A>C p.Lys273Gln reported / / / /
31 early childhood EIF2B4 4 c.407A>G p.Gln136Arg novel paternal possibly damaging (0.920) affect protein function(0.00) disease causing
4 c.407A>G p.Gln136Arg novel maternal possibly damaging (0.920) affect protein function(0.00) disease causing
32 early childhood EIF2B5 7 c.947G>A p.Arg316Gln novel paternal probably damaging (1.000) affect protein function(0.00) disease causing
9 c.1352T>C p.Leu451Ser novel maternal probably damaging (0.988) affect protein function(0.00) disease causing
33 early childhood EIF2B3 8 c.965C>G p.Ala322Gly novel paternal possibly damaging (0.745) affect protein function(0.00) disease causing
9 c.1037T>C p.IIe346Thr reported maternal / / /
34 early childhood EIF2B3 7 c.674G>A p.Arg225Gln reported paternal / / /
7 c.674G>A p.Arg225Gln reported maternal / / /