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Known Diseases associated with this Protein: | ATRIAL FIBRILLATION, FAMILIAL, 10
| ATRIAL FIBRILLATION, FAMILIAL, 10, INCLUDED
| ATRIAL STANDSTILL, INCLUDED;;
| BRUGADA SYNDROME 1
| BRUGADA SYNDROME 1, INCLUDED;;
| CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE
| CARDIAC CONDUCTION DEFECT, NONSPECIFIC, INCL
| CARDIOMYOPATHY, DILATED, 1E
| LONG QT SYNDROME 2/3, DIGENIC
| LONG QT SYNDROME 3
| LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO
| LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED
| LONG QT SYNDROME 3/6, DIGENIC, INCLUDED
| PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
| SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
| SINUS NODE DISEASE, INCLUDED
| SUDDEN INFANT DEATH SYNDROME, INCLUDED
| VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL
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| | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs6791924 | Polymorphism | p.ARG34CYS | N/A | dbSNP | rs61737825 | Polymorphism | p.ARG971CYS | N/A | dbSNP | rs41261344 | Polymorphism | p.ARG1193GLN | N/A | dbSNP | rs1805124 | Polymorphism | p.HIS558ARG | N/A | dbSNP | rs7626962 | Polymorphism | p.SER1103TYR | N/A | dbSNP | rs41315493 | Polymorphism | p.VAL1951LEU | N/A | OMIM | 600163.0019 | Disease | p.ALA997SER | LONG QT SYNDROME 3 | OMIM | 600163.0012 | Disease | p.ALA1924THR | BRUGADA SYNDROME 1 | OMIM | 600163.0022 | Disease | p.ALA735VAL | BRUGADA SYNDROME 1 | OMIM | 600163.0023 | Disease | p.ARG1193GLN | BRUGADA SYNDROME 1||LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED | OMIM | 600163.0007 | Disease | p.ARG1623GLN | LONG QT SYNDROME 3||LONG QT SYNDROME 3/6, DIGENIC, INCLUDED | OMIM | 600163.0046 | Disease | p.ARG222GLN | CARDIOMYOPATHY, DILATED, 1E | OMIM | 600163.0002 | Disease | p.ARG1644HIS | LONG QT SYNDROME 3 | OMIM | 600163.0020 | Disease | p.ARG1826HIS | LONG QT SYNDROME 3 | OMIM | 600163.0021 | Disease | p.ARG367HIS | BRUGADA SYNDROME 1 | OMIM | 600163.0028 | Disease | p.ARG1623TER | SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE | OMIM | 600163.0004 | Disease | p.ARG1232TRP | BRUGADA SYNDROME 1 | OMIM | 600163.0011 | Disease | p.ARG1512TRP | BRUGADA SYNDROME 1 | OMIM | 600163.0041 | Disease | p.ASN1986LYS | ATRIAL FIBRILLATION, FAMILIAL, 10 | OMIM | 600163.0043 | Disease | p.ASN470LYS | ATRIAL FIBRILLATION, FAMILIAL, 10 | OMIM | 600163.0003 | Disease | p.ASN1325SER | LONG QT SYNDROME 3 | OMIM | 600163.0034 | Disease | p.ASP1275ASN | CARDIOMYOPATHY, DILATED, 1E||ATRIAL STANDSTILL, INCLUDED;;||ATRIAL FIBRILLATION, FAMILIAL, 10, INCLUDED | OMIM | 600163.0017 | Disease | p.ASP1595ASN | PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA | OMIM | 600163.0035 | Disease | p.ASP1819ASN | LONG QT SYNDROME 2/3, DIGENIC | OMIM | 600163.0039 | Disease | p.ASP1595HIS | CARDIOMYOPATHY, DILATED, 1E | OMIM | 600163.0018 | Disease | p.GLN298SER | PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA | OMIM | 600163.0033 | Disease | p.GLU1053LYS | BRUGADA SYNDROME 1||ATRIAL FIBRILLATION, FAMILIAL, 10, INCLUDED | OMIM | 600163.0008 | Disease | p.GLU1784LYS | LONG QT SYNDROME 3||BRUGADA SYNDROME 1, INCLUDED;;||SINUS NODE DISEASE, INCLUDED | OMIM | 600163.0044 | Disease | p.GLU428LYS | ATRIAL FIBRILLATION, FAMILIAL, 10 | OMIM | 600163.0045 | Disease | p.GLU655LYS | ATRIAL FIBRILLATION, FAMILIAL, 10 | OMIM | 600163.0026 | Disease | p.GLY1408ARG | SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE||BRUGADA SYNDROME 1, INCLUDED;;||CARDIAC CONDUCTION DEFECT, NONSPECIFIC, INCL | OMIM | 600163.0016 | Disease | p.GLY514CYS | CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE | OMIM | 600163.0032 | Disease | p.GLY1262SER | BRUGADA SYNDROME 1 | OMIM | 600163.0031 | Disease | p.HIS558ARG | PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA | OMIM | 600163.0042 | Disease | p.HIS445ASP | ATRIAL FIBRILLATION, FAMILIAL, 10 | OMIM | 600163.0047 | Disease | p.ILE1835THR | CARDIOMYOPATHY, DILATED, 1E | OMIM | 600163.0025 | Disease | p.PRO1298LEU | SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE | OMIM | 600163.0015 | Disease | p.SER941ASN | LONG QT SYNDROME 3 | OMIM | 600163.0014 | Disease | p.SER1710LEU | VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL | OMIM | 600163.0024 | Disease | p.SER1103TYR | LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO||SUDDEN INFANT DEATH SYNDROME, INCLUDED | OMIM | 600163.0027 600163.0037 | Disease | p.THR220ILE | CARDIOMYOPATHY, DILATED, 1E | OMIM | 600163.0031 | Disease | p.THR512ILE | PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA | OMIM | 600163.0004 | Disease | p.THR1620MET | BRUGADA SYNDROME 1 | OMIM | 600163.0036 | Disease | p.TRP1421TER | BRUGADA SYNDROME 1 | OMIM | 600163.0029 | Disease | p.TYR1795CYS | LONG QT SYNDROME 3 | OMIM | 600163.0030 | Disease | p.TYR1795HIS | BRUGADA SYNDROME 1 | OMIM | 600163.0040 | Disease | p.VAL232ILEANDL | BRUGADA SYNDROME 1 |
Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
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