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Known Diseases associated with this Protein: | ARTERIAL CALCIFICATION OF INFANCY, GENERALIZED, 1 (GACI1)
| ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
| ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, INCLUDED
| COLE DISEASE
| DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO, INCLUDED;;
| HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2
| HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 (ARHR2)
| INSULIN RESISTANCE, SUSCEPTIBILITY TO
| OBESITY,
| OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF THE SPINE (OPLL)
| RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
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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 | rs28933977 | Polymorphism | p.ARG774CYS | N/A | Swiss-Prot | VAR_037435 | Polymorphism | p.ARG886THR | N/A | Swiss-Prot | VAR_037432 | Polymorphism | p.ASN179SER | N/A | Swiss-Prot | VAR_067913 | Disease | p.ASP538HIS | Arterial calcification of infancy, generalized, 1 (GACI1) | dbSNP | rs115371819 | Polymorphism | p.GLU668LYS | N/A | Swiss-Prot | VAR_067914 | Disease | p.GLY586ARG | Arterial calcification of infancy, generalized, 1 (GACI1) | Swiss-Prot | VAR_063719 | Disease | p.GLY266VAL | Hypophosphatemic rickets, autosomal recessive, 2 (ARHR2) | Swiss-Prot | VAR_037433 | Disease | p.GLY342VAL | Arterial calcification of infancy, generalized, 1 (GACI1) | Swiss-Prot | VAR_018514 | Disease | p.LEU579PHE | Arterial calcification of infancy, generalized, 1 (GACI1) | Swiss-Prot | VAR_014141 | Disease | p.LEU91PRO | Ossification of the posterior longitudinal ligament of the spine (OPLL) | dbSNP | rs79079368 | Polymorphism | p.LEU611VAL | N/A | dbSNP | rs1044498 | Polymorphism | p.LYS173GLN | N/A | Swiss-Prot | VAR_067910 | Disease | p.PRO250LEU | Arterial calcification of infancy, generalized, 1 (GACI1) | Swiss-Prot | VAR_067912 | Disease | p.PRO305THR | Arterial calcification of infancy, generalized, 1 (GACI1) | Swiss-Prot | VAR_014143 | Disease | p.SER287PHE | Ossification of the posterior longitudinal ligament of the spine (OPLL) | Swiss-Prot | VAR_014144 | Polymorphism | p.THR779PRO | N/A | Swiss-Prot | VAR_014142 | Polymorphism | p.TYR268HIS | N/A | Swiss-Prot | VAR_037434 | Polymorphism | p.TYR371PHE | N/A | Swiss-Prot | VAR_063720 | Disease | p.TYR901SER | Hypophosphatemic rickets, autosomal recessive, 2 (ARHR2) | OMIM | 173335.0003 | Disease | p.ARG774CYS | RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE | OMIM | 173335.0017 | Disease | p.ASP538HIS | ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 | OMIM | 173335.0022 | Disease | p.CYS149SER | COLE DISEASE | OMIM | 173335.0021 | Disease | p.CYS164SER | COLE DISEASE | OMIM | 173335.0020 | Disease | p.CYS177TYR | COLE DISEASE | OMIM | 173335.0002 | Disease | p.GLU893TER | ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 | OMIM | 173335.0019 | Disease | p.GLY586ARG | ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 | OMIM | 173335.0011 | Disease | p.GLY266VAL | HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2||ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, INCLUDED | OMIM | 173335.0008 | Disease | p.GLY342VAL | ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 | OMIM | 173335.0005 | Disease | p.LEU579PHE | ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 | OMIM | 173335.0006 | Disease | p.LYS121GLN | INSULIN RESISTANCE, SUSCEPTIBILITY TO||DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO, INCLUDED;;||OBESITY, | OMIM | 173335.0016 | Disease | p.PRO305THR | ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 | OMIM | 173335.0009 | Disease | p.TYR371PHE | ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 | OMIM | 173335.0013 | Disease | p.TYR901SER | HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 | OMIM | 173335.0014 | Disease | p.TYR261TER | ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 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.
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