TABLE 1.
Three novel mutations of ATP2C1 gene identified in three Chinese HHD pedigrees
| Pedigree ID | Mutation site | Mutation type | Putative SPCA1 domain | Transcript 1 | Transcript 2 | Classification ACMG | ||
|---|---|---|---|---|---|---|---|---|
| cDNA change | AA change | cDNA change | AA change | |||||
| Family 1 | c.2487+1G>A | Splice‐site mutation | M8 | c.2392_2487del | p.Leu798_Gln829del | — | — | Pathogenic (PVS1, PS3, PM2, PP1, PP4) |
| Family 2 | c.2126+1G>A | Splice‐site mutation | M6 | c.2058_2126del | p.Ala688_Ser710del | c.2058_2199del | p.Met686Ilefs*19 | Pathogenic (PVS1, PS3, PM2, PP1, PP4) |
| Family 3 | c.1891‐2A>G | Splice‐site mutation | Mn2+‐binding domain | c.1891_2057del | p.Ser631Valfs*7 | c.1891_1899del | p.Ser631_Gln633del | Pathogenic (PVS1, PS3, PM2, PP1, PP4) |