Table 1.
Patient | Gene | cDNA change | Protein change | Variant type | Status | dbSNP ID | SIFT | PolyPhen-2 |
---|---|---|---|---|---|---|---|---|
P78 | MBOAT1 | c.151C>T | p.R51C | Missense | Homozygous | rs184491612 | Deleterious | PD |
P78: patient 78; MBOAT1: membrane-bound O-acyltransferase domain-containing 1; Polyphen-2: polymorphism phenotyping v2; SIFT: sorting intolerant from tolerant; PD: probably damaging; cDNA: complementary DNA; dbSNP: database of single nucleotide polymorphism