Hyperinsulinism gene mutations identified
| Pathogenic variant | Population frequency (ExAC server) | ||||||
|---|---|---|---|---|---|---|---|
| Patient # | Gene* | Nucleotide | Amino acid | Genomic coordinates (h38) | SIFT/PolyPhen prediction | Literature | |
| 2 | ABCC8 | c.692G>A | p.Trp231Ter | chr11:17461713 | – | Not reported | Not listed |
| 3 | ABCC8 | c.2800C>T | p.Arg934Ter | chr11:17408415 | – | 22 | Not listed |
| 7 | KCNJ11 | c.776A>G | p.His259Arg | chr11:17387316 | Damaging/probably damaging | 23 | 0.00006595 |
| 9 | KCNJ11 | c.844G>A | p.Glu282Lys | chr11:17387248 | Damaging/probably damaging | 24 | 0.00004943 |
*ABCC8 sequence is based on GenBank reference sequence NM_001287174. KCNJ11 sequence is based on GenBank reference sequence NM_000525.