Table 1.
Features of variants identified in P1 and P2
| Patient | Exon | Position | MAF | Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|
| Genomic Chr2(GRCh37) | cDNA NM_001631.4 | Proteins | CADD MSC:3.13 | PoliPhen‐2 | SIFT | Mutation Taster | |||
| 1 | 3 | g.233321394G>A | c.289G>A | p.Ala97Thr | 0.0004362 | 27.1 | Probably damaging score: 1.0 | Deleterious score: 0.03 | Disease causing P‐value: 0.997 |
| 9 | g.233322984C>T | c.1049C>T | p.Ala350Val | No Freq | 19.95 | Possibly damaging score: 0.532 | Tolerated score: 0.35 | Disease causing P‐value: 0.644 | |
| 2 | 9 | g.233323014C>T | c.1079C>T | p.Ala360Val | 0.0006363 | 27.8 | Probably damaging score: 0.990 | Tolerated score: 0.36 | Disease causing P‐value: 1 |
| 11 | g.233323584C>T | c.1315C>T | p.Gln439X | 0.0001295 | 19.3 | – | – | – | |
MAF, minor allelic frequency based on 60,706 individuals genotyped as part of the Exome Aggregation Consortium (ExAC: http://exac.broadinstitute.org). Variant predictions are based on PolyPhen‐2 (http://genetics.bwh.harvard.edu/pph2), SIFT (http://sift.jcvi.org), Mutation Taster (http://www.mutationtaster.org). Mutation significance cut‐off (MSC), a gene‐level‐specific cut‐off for CADD scores, was generated for ALPI (http://pec630.rockefeller.edu:8080/MSC/).