Genename Variants
MAVS(NM_020746,mitochondrial antiviral signaling protein,540aa) g.20:3845341G>A,c.1064G>A,p.R355H
MAVS(NM_020746,mitochondrial antiviral signaling protein,540aa) g.20:3845280G>A,c.1003G>A,p.A335T
MAVS(NM_020746,mitochondrial antiviral signaling protein,540aa) g.20:3845179C>T,c.902C>T,p.T301I
MAVS(NM_020746,mitochondrial antiviral signaling protein,540aa) g.20:3844929C>T,c.652C>T,p.R218C
MAVS(NM_020746,mitochondrial antiviral signaling protein,540aa) g.20:3844906C>T,c.629C>T,p.A210V
MAVS(NM_020746,mitochondrial antiviral signaling protein,540aa) g.20:3843027C>A,c.592C>A,p.Q198K
MAVS(NM_020746,mitochondrial antiviral signaling protein,540aa) g.20:3842923C>T,c.488C>T,p.T163M
MAVS(NM_020746,mitochondrial antiviral signaling protein,540aa) g.20:3838441C>G,c.277C>G,p.Q93E
MAVS(NM_020746,mitochondrial antiviral signaling protein,540aa) g.20:3838400G>T,c.236G>T,p.C79F
MAVS(NM_020746,mitochondrial antiviral signaling protein,540aa) g.20:3838399T>A,c.235T>A,p.C79S
MAVS(NM_020746,mitochondrial antiviral signaling protein,540aa) g.20:3838357C>T,c.193C>T,p.R65W
MAU2(NM_015329,MAU2 sister chromatid cohesion factor,613aa) g.19:19447991G>T,c.373G>T,p.A125S
MATR3(NM_199189,matrin 3,847aa) g.5:138665044A>G,c.2504A>G,p.N835S
MATR3(NM_199189,matrin 3,847aa) g.5:138661340A>G,c.2360A>G,p.N787S
MATR3(NM_199189,matrin 3,847aa) g.5:138661298A>G,c.2318A>G,p.Y773C
MATR3(NM_199189,matrin 3,847aa) g.5:138661298A>C,c.2318A>C,p.Y773S
MATR3(NM_199189,matrin 3,847aa) g.5:138658499A>C,c.1991A>C,p.E664A
MATR3(NM_199189,matrin 3,847aa) g.5:138652744G>A,c.1132G>A,p.A378T
MATN4(NM_003833,matrilin 4,581aa) g.20:43933416G>A,c.95C>T,p.P32L
MATN4(NM_003833,matrilin 4,581aa) g.20:43933399C>G,c.112G>C,p.V38L
MATN4(NM_003833,matrilin 4,581aa) g.20:43933339T>C,c.172A>G,p.M58V
MATN4(NM_003833,matrilin 4,581aa) g.20:43933156A>G,c.355T>C,p.Y119H
MATN4(NM_003833,matrilin 4,581aa) g.20:43933144C>T,c.367G>A,p.V123M
MATN4(NM_003833,matrilin 4,581aa) g.20:43933021G>T,c.490C>A,p.R164S
MATN4(NM_003833,matrilin 4,581aa) g.20:43930062C>T,c.665G>A,p.G222E
MATN4(NM_003833,matrilin 4,581aa) g.20:43930036C>A,c.691G>T,p.V231F
MATN4(NM_003833,matrilin 4,581aa) g.20:43929560G>A,c.979C>T,p.R327W
MATN4(NM_003833,matrilin 4,581aa) g.20:43929527G>A,c.1012C>T,p.R338W
This is an excerpt of data-sheet including the published polymorphism sites observed in our studies. For the complete variant lists and potential collaboration, please contact huh@cougarlab.org