TABLE 1.
EIF2AK2 Variants Identified in this Study
| Family | Chromosomal Position | Nucleotide Change | Amino Acid Change | Affected Carriers, n | Presence in gnomAD | Zygosity |
|---|---|---|---|---|---|---|
| A | 2:37368697 | c.388G>A | p.Gly130Arg | 7 | Absent | Heterozygous |
| B | 2:37368697 | c.388G>A | p.Gly130Arg | 1 | Absent | Heterozygous |
| C | 2:37368697 | c.388G>A | p.Gly130Arg | 1 | Absent | Heterozygous, de novo |
| D | 2:37366877 | c.413G>C | p.Gly138Ala | 2 | Absent | Heterozygous |
| E | 2:37374855 | c.95A>C | p.Asn32Thr | 1 | Absent | Homozygous |
Variants are annotated according to genome build GRCh37/hg19 and EIF2AK2 transcript NM_002759.