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Known Diseases associated with this Protein: | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
| ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 (ARCI1)
| ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION
| ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT BATHING
| SUIT DISTRIBUTION
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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_058640 | Disease | p.ARG126CYS | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058643 | Disease | p.ARG142CYS | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_007477 | Disease | p.ARG143CYS | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058664 | Disease | p.ARG315CYS | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | dbSNP | rs2229464 | Polymorphism | p.ARG607CYS | N/A | Swiss-Prot | VAR_058687 | Disease | p.ARG687CYS | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058689 | Disease | p.ARG764CYS | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058654 | Disease | p.ARG264GLN | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058660 | Disease | p.ARG286GLN | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_015221 | Disease | p.ARG323GLN | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058663 | Disease | p.ARG307GLY | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058641 | Disease | p.ARG126HIS | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_007476 | Disease | p.ARG142HIS | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_007478 | Disease | p.ARG143HIS | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058650 | Disease | p.ARG225HIS | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058665 | Disease | p.ARG315HIS | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_015222 | Disease | p.ARG389HIS | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058679 | Disease | p.ARG396HIS | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058688 | Disease | p.ARG687HIS | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058666 | Disease | p.ARG315LEU | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_007481 | Disease | p.ARG396LEU | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058644 | Disease | p.ARG142PRO | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058651 | Disease | p.ARG225PRO | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058677 | Disease | p.ARG389PRO | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058680 | Disease | p.ARG396SER | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058655 | Disease | p.ARG264TRP | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_020920 | Disease | p.ARG307TRP | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058667 | Disease | p.ARG323TRP | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058668 | Disease | p.ASN330HIS | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_020919 | Disease | p.ASN289THR | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | dbSNP | rs2229462 | Polymorphism | p.ASP132ASN | N/A | Swiss-Prot | VAR_058684 | Disease | p.ASP490GLY | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_020918 | Disease | p.ASP102VAL | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058682 | Disease | p.ASP430VAL | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | dbSNP | rs2228337 | Polymorphism | p.ASP802VAL | N/A | Swiss-Prot | VAR_058638 | Disease | p.CYS53SER | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058685 | Disease | p.GLU520GLY | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058659 | Disease | p.GLU285LYS | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058646 | Disease | p.GLY144ARG | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058658 | Disease | p.GLY278ARG | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058675 | Disease | p.GLY382ARG | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058678 | Disease | p.GLY392ASP | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058639 | Disease | p.GLY94ASP | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058645 | Disease | p.GLY144GLU | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_007479 | Disease | p.GLY218SER | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058683 | Disease | p.GLY473SER | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058662 | Disease | p.ILE304PHE | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058652 | Disease | p.ILE243SER | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058648 | Disease | p.LEU205GLN | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058674 | Disease | p.LEU366PRO | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058661 | Disease | p.PHE293VAL | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058681 | Disease | p.PHE401VAL | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058653 | Disease | p.PRO249LEU | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058671 | Disease | p.SER358ARG | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058647 | Disease | p.SER160CYS | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | dbSNP | rs35926651 | Polymorphism | p.SER755LEU | N/A | Swiss-Prot | VAR_058656 | Disease | p.SER272PRO | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058669 | Disease | p.SER331PRO | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_015220 | Disease | p.SER42TYR | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058670 | Disease | p.TRP342ARG | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058657 | Disease | p.TYR276ASN | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058673 | Disease | p.TYR365ASP | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058642 | Disease | p.TYR134CYS | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058686 | Disease | p.TYR544CYS | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_055374 | Polymorphism | p.VAL372ILE | N/A | Swiss-Prot | VAR_007480 | Disease | p.VAL379LEU | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058672 | Disease | p.VAL359MET | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_058676 | Disease | p.VAL383MET | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | Swiss-Prot | VAR_052550 | Polymorphism | p.VAL518MET | N/A | Swiss-Prot | VAR_058649 | Disease | p.VAL209PHE | Ichthyosis, congenital, autosomal recessive 1 (ARCI1) | OMIM | 190195.0030 | Disease | p.ARG126CYS | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION | OMIM | 190195.0004 | Disease | p.ARG142CYS | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 | OMIM | 190195.0031 | Disease | p.ARG315CYS | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION | OMIM | 190195.0017 | Disease | p.ARG286GLN | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 | OMIM | 190195.0005 | Disease | p.ARG323GLN | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 | OMIM | 190195.0006 | Disease | p.ARG141HIS | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 | OMIM | 190195.0007 | Disease | p.ARG142HIS | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT BATHING||SUIT DISTRIBUTION | OMIM | 190195.0032 | Disease | p.ARG315HIS | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION | OMIM | 190195.0011 | Disease | p.ARG388HIS | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 | OMIM | 190195.0035 | Disease | p.ARG396HIS | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 | OMIM | 190195.0033 | Disease | p.ARG315LEU | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT BATHING||SUIT DISTRIBUTION | OMIM | 190195.0009 | Disease | p.ARG395LEU | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 | OMIM | 190195.0016 | Disease | p.ARG142PR | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 | OMIM | 190195.0038 | Disease | p.ARG670TER | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT BATHING||SUIT DISTRIBUTION | OMIM | 190195.0022 | Disease | p.ARG306TRP | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION | OMIM | 190195.0021 | Disease | p.ASN288THR | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION | OMIM | 190195.0013 | Disease | p.ASP490GLY | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 | OMIM | 190195.0027 | Disease | p.ASP101VAL | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 | OMIM | 190195.0025 | Disease | p.GLN582TER | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 | OMIM | 190195.0014 | Disease | p.GLY278ARG | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 | OMIM | 190195.0015 | Disease | p.GLY392ASP | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 | OMIM | 190195.0020 | Disease | p.GLY94ASP | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 | OMIM | 190195.0023 | Disease | p.GLY217SER | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 | OMIM | 190195.0028 | Disease | p.LEU204GLN | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 | OMIM | 190195.0019 | Disease | p.SER160CYS | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 | OMIM | 190195.0003 | Disease | p.SER42TYR | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 | OMIM | 190195.0029 | Disease | p.TYR276ASN | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION | OMIM | 190195.0008 | Disease | p.VAL378LEU | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 | OMIM | 190195.0034 | Disease | p.VAL359MET | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 | OMIM | 190195.0010 | Disease | p.VAL382MET | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION | OMIM | 190195.0018 | Disease | p.VAL518MET | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 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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