MMACHC gene variants* | Phenotypes | PMID | References | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
No. | Nucleotide change | Protein change | n | % | Neuropsychiatric diseases | Cardiovascular diseases | Renal diseases | Others | ||||||
n | % | n | % | n | % | n | % | |||||||
1 | c.482G > A | p.R161Q | 41 | 36.6 | 39 | 34.8 | 3 | 2.7 | 1 | 0.9 | 11 | 9.8 | 20631720 | [3] |
2 | c.609G > A | p.Trp203Ter | 18 | 16.1 | 11 | 9.8 | 7 | 6.3 | 5 | 4.5 | 7 | 6.3 | 20631720 | [3] |
3 | c.658_660delAAG | p.K220del | 11 | 9.8 | 11 | 9.8 | 1 | 0.9 | 0 | 0 | 1 | 0.9 | 20631720 | [3] |
4 | c.80A > G | p.Gln27Arg | 9 | 8.0 | 2 | 1.8 | 8 | 7.1 | 4 | 3.6 | 4 | 3.6 | 20631720 | [3] |
5 | c.567dupT | P.Ile190Tyrfs*13 | 7 | 6.3 | 7 | 6.3 | 0 | 0 | 0 | 0 | 1 | 0.9 | 30157807 | [31] |
6 | c.394C > T | p.Arg132Ter | 4 | 3.6 | 4 | 3.6 | 0 | 0 | 0 | 0 | 2 | 1.8 | 20631720 | [3] |
7 | c.315C > G | p.Tyr105Term | 2 | 1.8 | 2 | 1.8 | 1 | 0.9 | 0 | 0 | 2 | 1.8 | 20631720 | [3] |
8 | c.217C > T | p.Arg73Term | 2 | 1.8 | 1 | 0.9 | 0 | 0 | 0 | 0 | 2 | 1.8 | 16311595 | [20] |
9 | c.615C > A | p.Tyr205Ter | 2 | 1.8 | 2 | 1.8 | 0 | 0 | 0 | 0 | 1 | 0.9 | 20631720 | [3] |
10 | c.444_445delTG/c.445_446delTG | p.C149Hfs*32 | 2 | 1.8 | 2 | 1.8 | 0 | 0 | 1 | 0.9 | 0 | 0 | 32943488 | [22] |
11 | c.365A > T | p.His122Leu | 2 | 1.8 | 1 | 0.9 | 1 | 0.9 | 0 | 0 | 0 | 0 | 20631720 | [3] |
12 | Exon 1 del | Exon 1 deletion | 2 | 1.8 | 2 | 1.8 | 0 | 0 | 0 | 0 | 1 | 0.9 | 31278756 | [32] |
13 | c.626dup | p.Thr210fs | 1 | 0.9 | 0 | 0 | 1 | 0.9 | 0 | 0 | 1 | 0.9 | 20631720 | [3] |
14 | c.452A > G | p.His151Arg | 1 | 0.9 | 1 | 0.9 | 0 | 0 | 0 | 0 | 0 | 0 | 20631720 | [3] |
15 | c.656_658delAGA | p.K220Rfs*71 | 1 | 0.9 | 1 | 0.9 | 0 | 0 | 0 | 0 | 0 | 0 | 30863077 | [5] |
16 | c.427C > T | p.Gln143Ter | 1 | 0.9 | 1 | 0.9 | 0 | 0 | 0 | 0 | 0 | 0 | 32943488 | [22] |
17 | c.467G > A | p.Gly156ASp | 1 | 0.9 | 1 | 0.9 | 0 | 0 | 0 | 0 | 0 | 0 | 16311595 | [20] |
18 | c.637G > T | p.Glu637Ter | 1 | 0.9 | 1 | 0.9 | 0 | 0 | 0 | 0 | 0 | 0 | 30157807 | [31] |
19 | c.565C > T | p.Arg189Cys | 1 | 0.9 | 1 | 0.9 | 0 | 0 | 0 | 0 | 0 | 0 | 31279840 | [19] |
20 | c.347T > C | p.Leu116Pro | 1 | 0.9 | 1 | 0.9 | 0 | 0 | 0 | 0 | 0 | 0 | 16311595 | [20] |
21 | c.600G > A | p.Trp200Term | 1 | 0.9 | 1 | 0.9 | 0 | 0 | 0 | 0 | 0 | 0 | 16311595 | [20] |
Total | 111 | 99.1 | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |