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Table 2 Results of ECHS1 genetic analysis of the 5 patients

From: Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report

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
  1. aThe transcript used is NM_004092.3
  2. b“P” is short for Paternal, “M” is short for Maternal
  3. cThe population frequencies are the global frequencies (ALL) of the gnomAD, ExAC and 1000 Genomes databases. The dash ‘-‘denotes no records for the variant in the database