Patient | Mutation | Chromosome 12: position | Domain | Mutation taster | PolyPhen-2 | Reported/Novel |
---|---|---|---|---|---|---|
Patient 1 | c. 694Â TÂ >Â C, p.Ser232Pro | 52,082,621 | DIS4 | Disease causing | Probably damaging | Novel |
Patient 2 | c.2549GÂ >Â A, p.Arg850Glu | 52,159,459 | DIIS4 | Disease causing | Probably damaging | Reported [14] |
Patient 3 | c. 5614CÂ >Â T, p.Arg1872Trp | 52,200,884 | C-terminal | Disease causing | Probably damaging | |
Pateint 4 | c. 423GÂ >Â A, p.Gly1475Arg | 52,184,185 | DIIIS6-DIVS1 loop | Disease causing | Probably damaging | Reported [15] |
Patient 5 | c.5630AÂ >Â G, p.Asn1877Ser | 52,200,900 | C-terminal | Disease causing | Possibly damaging | |
Patient 6 | p.2671GÂ >Â A, p.Val891Met | 52,159,581 | DIIS5 | Disease causing | Probably damaging | Novel |
Pedigree | c.4793Â TÂ >Â C, p.Val1598Ala | 52,188,423 | DIVS3 | Disease causing | Probably damaging | Novel |