Table 2 Results of ECHS1 genetic analysis of the 5 patients
Patient | Variant a | Origination b | Exon/ Intron | Position (hg19) | Novel/ reported (PMID) | Population allele frequency c | Pathogenicity Scores | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
gnomAD | ExAC | 1000 Genomes | SIFT | Polyphen2_HDIV | Polyphen2_HVAR | LRT | dbscSNV | GERP (NR) | GERP (RS) | ||||||
1 | c.5C > T (p.A2V) | M | Exon 1 | 10:135186833 | Reported (25393721) | 1.02•10−5 | 0 | – | 0.005 | 0.011 | 0.011 | – | – | 3.75 | 2.8199 |
c.607C > T (p.A203T) | P | Exon 5 | 10:135180405 | novel | 2.01•10−5 | 8.35•10−6 | – | 0 | 1 | 0.997 | 0 | – | 5.92 | 5.01 | |
2 | c.463G > A (p.G155S) | M | Exon 4 | 10:135182478 | novel | 1.99•10−5 | 13.32•10−5 | 2.0•10− 4 | 0.24 | 0.981 | 0.81 | 0 | – | 5.8099 | 5.8099 |
c.557C > T (p.S186L) | P | Exon 5 | 10:135180455 | novel | 1.44•10−4 | 2.0•10− 4 | 2.0•10− 4 | 0.001 | 1 | 0.999 | 0 | – | 5.92 | 5.92 | |
3 | c.463G > A (p.G155S) | M | Exon 4 | 10:135182478 | novel | 1.99•10−5 | 13.32•10−5 | 2.0•10−4 | 0.24 | 0.981 | 0.81 | 0 | – | 5.8099 | 5.8099 |
c.583G > A (p.G195S) | P | Exon 5 | 10:135180429 | Reported (26000322) | 1.02•10−5 | 8.35•10−6 | – | 0.009 | 1 | 1 | 0 | – | 5.92 | 5.92 | |
4 | c.310C > G (p.Q104E) | M | Exon 3 | 10:135183512 | novel | – | – | – | 0.201 | 0.012 | 0.027 | 0 | – | 5.63 | 3.7 |
c.414 + 5G > A (splicing) | P | Intron 3 | 10:135183403 | novel | – | – | – | – | – | – | – | 0.9999 | 5.9 | 5.9 | |
5 | c.463G > A (p.G155S) | M | Exon 4 | 10:135182478 | novel | 1.99•10−5 | 13.32•10−5 | 2.0•10−4 | 0.24 | 0.981 | 0.81 | 0 | 5.8099 | 5.8099 | |
c.476_477delAGinsGGCATAGA (p.Q159delinsLYA) | P | Exon 4 | 10: 135182464 | novel | – | – | – | – | – | – | – | 5.8099 | 4.3849 | ||