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. Author manuscript; available in PMC: 2020 Nov 18.
Published in final edited form as: Genet Med. 2019 Sep 2;22(2):427–431. doi: 10.1038/s41436-019-0639-2

Table 1.

Rare variants in CHD4, CNOT3, and SETD5 identified in MMA patients

Gene Variant cDNA Variant protein CADD ExAC gnomAD Segregation Family
CHD4 c.3533C>T p.Ala1178Val 23.9 0 0 De novo MM182
CHD4 c.22C>T p.Pro8Ser 23.1 0 0 Probanda MM117
CHD4 c.1481C>T p.Thr494Met 24.9 0 1.22e−5 Inherited from unaffected mother M102
CHD4 c.1686+1G>T - 24.7 0 0 Probanda M136
CHD4 c.5221A>G p.Ile1741Val 24.5 0 7.25e−6 Probanda M108
CHD4 c.5273A>G p.Tyr1758Cys 26.5 1.60e−3 1.62e−5 Probanda M123
CHD4 c.5638C>T p.Pro1880Ser 24.8 0 0 Absent in motherb M155
CNOT3 c.643C>T p.Gln215* 39 0 0 De novo MM165
CNOT3 c.1564C>A p.Leu522Ile 17.9 0 0 De novo MM150
CNOT3 c.910G>A p.Gly304Ser 27.2 1.174e−3 4.76e−4 Inherited from unaffected father MM078
CNOT3 c.910G>A p.Gly304Ser 27.2 1.174e−3 4.76e−4 Absent in fatherb MM112
SETD5 c.1981delG p.Glu661Lysfs*5 - 0 0 De novo MM166
SETD5 c.1015G>T p.Asp339Tyr 27.8 0 0 Probanda M257
SETD5 c.2299C>T p.Arg767Cys 33 6.415e−5 7.67e−5 Probanda M011

CHD4: NM_001273.3, CNOT3: NM_014516.1, SETD5: NM_001080517.1.

cDNA complementary DNA, MMA moyamoya angiopathy.

a

Only the proband was available for analyses.

b

Only one parent was available for analyses.

The bold value used to highlight the de novo variants.