Table 1.
MINPP1 variants identified in the different cohorts.
| Family | Genomic coordinates (GRCh38) | Variant (transcript level) | Variant (protein level) | dbSNP | ExAC | gnomAD | SIFT | Polyphen | MutationTaster | CADD |
|---|---|---|---|---|---|---|---|---|---|---|
| CERID-30 | Chr10:g.87505138_87505139insGGGGG | NM_004897.4(MINPP1): c.223_224insGGGGG | p.E75Gfs*30 | – | – | – | – | – | – | – |
| CERID-11 | Chr10:g.87505072T>G | NM_004897.4(MINPP1): c.157T>G | p.Y53D | – | – | – | Deleterious (0) | Probably damaging (0.978) | Disease causing (prob: 1) | 32 |
| Chr10:g.87505215del | NM_004897.4(MINPP1): c.300del | p.K101Sfs*2 | – | – | – | – | – | – | – | |
| CERID-09 | Chr10:g.87552470G>A | NM_004897.4(MINPP1): c.1456G>A | p.E486K | – | – | – | Deleterious (0) | Probably damaging (0.94) | Disease causing (prob: 1) | 26.6 |
| TR-PCH-01 | Chr10:g.87552216G>A | NM_004897.4(MINPP1): c.1202G>A | p.R401Q | rs1381093602 | – | 1 allele count (freq 3 × 10−6) | Deleterious (0) | Probably damaging (0.987) | Disease causing (prob: 1) | 33 |
| PCH-2712 | Chr10:g.87505096_87505097insGAC | NM_004897.4(MINPP1): c.181_182insGAC | p.L61* | – | – | – | – | – | – | – |
| PCH-2456 | Chr10:g.87508380T>C | NM_004897.4(MINPP1): c.682T>C | p.F228L | rs1456945513 | – | – | Deleterious (0) | Probably damaging (0.993) | Disease causing (prob: 1) | 25.8 |
CADD score ⩾25 indicates that the variant is among the 0.5% most deleterious substitutions in the protein-coding regions of the human genome.