Table 2.
Details of Variants Identified in the Whole-Exome Sequencing Analysis.
| Genes | PEMT | OSBPL10 |
|---|---|---|
| Locus | chr17:17409560 | chr3:31789582 |
| Genotype | T/T | C/C |
| Ref | C | T |
| Allelic coverage | C = 0, T = 139 | T = 0, C = 398 |
| Allelic ratio | C = 0.0, T = 1.0 | T = 0.0, C = 1.0 |
| MAF | 0.461 (ref) | 0.459 (ref) |
| Type | SNV | SNV |
| Strand | – | – |
| Exon | 6 | 5 |
| Transcript | NM_148172.2 | NM_017784.4 |
| Coding | c.634G > A | c.760A > G |
| Amino acid change | p.Val212Met | p.Asn254Asp |
| Variant effect | Missense | Missense |
| PHYLOP | 0.38 | 0.97 |
| SIFT | 0.06 | 0.79 |
| GRANTHAM | 21 | 23 |
| POLYPHEN | 0.945 | 0.011 |
| FATHMM | 0.05 | 0.89 |
| dbSNP | rs7946 | rs2290532 |
OSBPL10, oxysterol-binding protein-related protein10; PEMT, phosphatidylethanolamine N-methyltransferase; MAF, minor allele frequency; PHYLOP, phylogenetic p-value; SIFT, sorting intolerant from tolerant; GRANTHAM, Grantham; POLYPHEN, polymorphism phenotyping; FATHMM, functional analysis through hidden Markov models.