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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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Swiss-Prot | VAR_062663 | Polymorphism | p.ALA476VAL | N/A | Swiss-Prot | VAR_027447 | Polymorphism | p.ARG1546CYS | N/A | dbSNP | rs11891778 | Polymorphism | p.ARG287GLY | N/A | Swiss-Prot | VAR_019600 | Disease | p.ARG1514HIS | Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) | dbSNP | rs11890512 | Polymorphism | p.ASN237HIS | N/A | Swiss-Prot | VAR_019598 | Disease | p.ASN1380SER | Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) | dbSNP | rs726070 | Polymorphism | p.ASP2365ASN | N/A | Swiss-Prot | VAR_027449 | Disease | p.ASP2365ASN | Ichthyosis, congenital, autosomal recessive 4B (ARCI4B) | dbSNP | rs11890468 | Polymorphism | p.GLN274ARG | N/A | dbSNP | rs16853149 | Polymorphism | p.GLU550GLY | N/A | Swiss-Prot | VAR_019601 | Disease | p.GLU1539LYS | Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) | Swiss-Prot | VAR_027448 | Polymorphism | p.GLU2064LYS | N/A | Swiss-Prot | VAR_067078 | Disease | p.GLY1179ARG | Ichthyosis, congenital, autosomal recessive 4B (ARCI4B) | Swiss-Prot | VAR_067077 | Disease | p.GLY1136ASP | Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) | dbSNP | rs13414448 | Polymorphism | p.GLY1251ASP | N/A | Swiss-Prot | VAR_019599 | Disease | p.GLY1381GLU | Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) | Swiss-Prot | VAR_019602 | Disease | p.GLY1651SER | Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) | Swiss-Prot | VAR_067081 | Disease | p.GLY1559VAL | Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) | Swiss-Prot | VAR_067080 | Disease | p.ILE1494THR | Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) | Swiss-Prot | VAR_067082 | Disease | p.PRO1798LEU | Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) | Swiss-Prot | VAR_067076 | Disease | p.SER387ASN | Ichthyosis, congenital, autosomal recessive 4B (ARCI4B) | Swiss-Prot | VAR_019597 | Polymorphism | p.SER459THR | N/A | Swiss-Prot | VAR_027445 | Polymorphism | p.SER777THR | N/A | Swiss-Prot | VAR_067083 | Disease | p.THR1980LYS | Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) | Swiss-Prot | VAR_067075 | Disease | p.THR345PRO | Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) | dbSNP | rs16853238 | Polymorphism | p.TRP199CYS | N/A | Swiss-Prot | VAR_067079 | Disease | p.TRP1235SER | Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) | OMIM | 607800.0004 | Disease | p.ARG1514HIS | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A | OMIM | 607800.0009 | Disease | p.ARG2203TER | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B | OMIM | 607800.0012 | Disease | p.ARG287TER | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B | OMIM | 607800.0002 | Disease | p.ASN1380SER | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A | OMIM | 607800.0008 | Disease | p.ASP2363ASN | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B | OMIM | 607800.0005 | Disease | p.GLU1539LYS | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A | OMIM | 607800.0010 | Disease | p.GLY1179ARG | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B | OMIM | 607800.0001 | Disease | p.GLY1381GLU | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A | OMIM | 607800.0003 | Disease | p.GLY1651SER | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A |
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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