Genename Variants
DBT(NM_001918,dihydrolipoamide branched chain transacylase E2,482aa) g.1:100672060T>C,c.1150A>G,p.S384G
DBT(NM_001918,dihydrolipoamide branched chain transacylase E2,482aa) g.1:100661929A>G,c.1331T>C,p.M444T
DBT(NM_001918,dihydrolipoamide branched chain transacylase E2,482aa) g.1:100661842T>C,c.1418A>G,p.N473S
DBR1(NM_016216,debranching RNA lariats 1,544aa) g.3:137890531C>T,c.347G>A,p.R116Q
DBR1(NM_016216,debranching RNA lariats 1,544aa) g.3:137888971A>G,c.467T>C,p.I156T
DBR1(NM_016216,debranching RNA lariats 1,544aa) g.3:137886048G>A,c.589C>T,p.R197X
DBR1(NM_016216,debranching RNA lariats 1,544aa) g.3:137882242T>A,c.890A>T,p.N297I
DBR1(NM_016216,debranching RNA lariats 1,544aa) g.3:137881335G>A,c.1031C>T,p.T344I
DBR1(NM_016216,debranching RNA lariats 1,544aa) g.3:137881275T>C,c.1091A>G,p.N364S
DBR1(NM_016216,debranching RNA lariats 1,544aa) g.3:137881084C>G,c.1282G>C,p.E428Q
DBR1(NM_016216,debranching RNA lariats 1,544aa) g.3:137881029C>T,c.1337G>A,p.G446D
DBR1(NM_016216,debranching RNA lariats 1,544aa) g.3:137881014G>A,c.1352C>T,p.S451L
DBR1(NM_016216,debranching RNA lariats 1,544aa) g.3:137880921G>A,c.1445C>T,p.T482M
DBP(NM_001352,D site of albumin promoter (albumin D-box) binding protein,325aa) g.19:49140182C>T,c.70G>A,p.G24S
DBP(NM_001352,D site of albumin promoter (albumin D-box) binding protein,325aa) g.19:49136787G>A,c.676C>T,p.R226X
DBNL(NM_001122956,drebrin-like,439aa) g.7:44099003C>G,c.913C>G,p.H305D
DBNL(NM_001122956,drebrin-like,439aa) g.7:44098487G>A,c.767G>A,p.C256Y
DBNL(NM_001122956,drebrin-like,439aa) g.7:44098033C>T,c.710C>T,p.T237M
DBNL(NM_001122956,drebrin-like,439aa) g.7:44096482G>A,c.454G>A,p.V152M
DBNL(NM_001122956,drebrin-like,439aa) g.7:44092484G>C,c.271G>C,p.D91H
DBNL(NM_001122956,drebrin-like,439aa) g.7:44084421T>G,c.83+2T>G,p.28Donor
DBNDD2(NM_001048226,dysbindin (dystrobrevin binding protein 1) domain containing 2,214aa) g.20:44037548G>A,c.553G>A,p.E185K
DBNDD1(NM_001042610,dysbindin (dystrobrevin binding protein 1) domain containing 1,158aa) g.16:90075827C>T,c.43G>A,p.E15K
DBNDD1(NM_001042610,dysbindin (dystrobrevin binding protein 1) domain containing 1,158aa) g.16:90075814G>A,c.56C>T,p.P19L
DBNDD1(NM_001042610,dysbindin (dystrobrevin binding protein 1) domain containing 1,158aa) g.16:90075797C>T,c.73G>A,p.V25I
DBN1(NM_080881,drebrin 1,651aa) g.5:176899148G>C,c.64C>G,p.R22G
DBN1(NM_080881,drebrin 1,651aa) g.5:176893942C>T,c.683G>A,p.R228Q
DBN1(NM_080881,drebrin 1,651aa) g.5:176887438C>G,c.956G>C,p.R319P
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