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Known Diseases associated with this Protein: | HYPOPHOSPHATASIA (HOPS)
| HYPOPHOSPHATASIA, ADULT
| HYPOPHOSPHATASIA, ADULT, INCLUDED
| HYPOPHOSPHATASIA, ADULT, INCLUDED;;
| HYPOPHOSPHATASIA, CHILDHOOD
| HYPOPHOSPHATASIA, CHILDHOOD, INCLUDED
| HYPOPHOSPHATASIA, CHILDHOOD, INCLUDED;;
| HYPOPHOSPHATASIA, INFANTILE
| ODONTOHYPOPHOSPHATASIA
| ODONTOHYPOPHOSPHATASIA, INCLUDED
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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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_025911 | Disease | p.ALA114GLY | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013994 | Disease | p.ALA399SER | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025904 | Disease | p.ALA51SER | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_006151 | Disease | p.ALA111THR | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013977 | Disease | p.ALA116THR | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_011083 | Disease | p.ALA176THR | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_006155 | Disease | p.ALA177THR | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_006156 | Disease | p.ALA179THR | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_011086 | Disease | p.ALA348THR | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025940 | Disease | p.ALA468THR | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013146 | Disease | p.ALA132VAL | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_006147 | Disease | p.ALA33VAL | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_011081 | Disease | p.ALA40VAL | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013973 | Disease | p.ALA51VAL | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013993 | Disease | p.ARG391CYS | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013997 | Disease | p.ARG450CYS | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_006149 | Disease | p.ARG71CYS | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025920 | Disease | p.ARG223GLN | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_006152 | Disease | p.ARG136HIS | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013980 | Disease | p.ARG152HIS | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025921 | Disease | p.ARG272HIS | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025934 | Disease | p.ARG391HIS | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_011090 | Disease | p.ARG450HIS | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013975 | Disease | p.ARG71HIS | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025922 | Disease | p.ARG272LEU | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_006150 | Disease | p.ARG71PRO | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_011085 | Disease | p.ARG246SER | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025908 | Disease | p.ARG71SER | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013983 | Disease | p.ARG184TRP | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013986 | Disease | p.ARG223TRP | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013981 | Disease | p.ASN170ASP | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013984 | Disease | p.ASN211ASP | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_011092 | Disease | p.ASN478ILE | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025937 | Disease | p.ASN417SER | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_006163 | Disease | p.ASP294ALA | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025917 | Disease | p.ASP189GLU | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_011088 | Disease | p.ASP406GLY | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013990 | Disease | p.ASP294TYR | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_006164 | Disease | p.ASP306VAL | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_006167 | Disease | p.ASP378VAL | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_011093 | Disease | p.CYS489SER | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_006159 | Disease | p.CYS201TYR | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025909 | Disease | p.GLN76ARG | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_006160 | Disease | p.GLN207PRO | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025933 | Disease | p.GLU354ASP | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_006157 | Disease | p.GLU191GLY | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013987 | Disease | p.GLU235GLY | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_006158 | Disease | p.GLU191LYS | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013989 | Disease | p.GLU291LYS | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025928 | Disease | p.GLU298LYS | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025930 | Disease | p.GLU311LYS | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025939 | Disease | p.GLU452LYS | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_006170 | Disease | p.GLU476LYS | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025919 | Disease | p.GLY220ALA | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013978 | Disease | p.GLY120ARG | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013979 | Disease | p.GLY129ARG | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013991 | Disease | p.GLY326ARG | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025932 | Disease | p.GLY339ARG | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_011091 | Disease | p.GLY456ARG | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_014001 | Disease | p.GLY491ARG | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025906 | Disease | p.GLY63ARG | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_006166 | Disease | p.GLY334ASP | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025938 | Disease | p.GLY426ASP | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_011089 | Disease | p.GLY426CYS | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025915 | Disease | p.GLY162SER | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013999 | Disease | p.GLY473SER | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013976 | Disease | p.GLY75SER | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_006153 | Disease | p.GLY162VAL | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013985 | Disease | p.GLY220VAL | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013988 | Disease | p.GLY249VAL | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013974 | Disease | p.GLY63VAL | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025916 | Disease | p.HIS171ARG | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_011087 | Disease | p.HIS381ARG | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_006154 | Disease | p.HIS171TYR | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025918 | Disease | p.ILE212PHE | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_014000 | Disease | p.ILE490PHE | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025936 | Disease | p.LEU414MET | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_006162 | Disease | p.LEU289PHE | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025923 | Disease | p.LEU275PRO | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025929 | Disease | p.LEU299PRO | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_011084 | Disease | p.LYS224GLU | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_006148 | Disease | p.MET62LEU | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025926 | Disease | p.MET295THR | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025905 | Disease | p.MET62VAL | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013992 | Disease | p.PHE327GLY | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_006165 | Disease | p.PHE327LEU | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025910 | Disease | p.PRO108LEU | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025924 | Disease | p.PRO292THR | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013982 | Disease | p.SER181LEU | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025903 | Disease | p.SER17PHE | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013996 | Disease | p.SER445PRO | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025935 | Disease | p.THR411ALA | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_011082 | Disease | p.THR134ASN | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025913 | Disease | p.THR134HIS | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025914 | Disease | p.THR148ILE | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025907 | Disease | p.THR68MET | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025927 | Disease | p.TYR297ASP | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013972 | Disease | p.TYR28CYS | Hypophosphatasia (HOPS) | dbSNP | rs3200254 | Polymorphism | p.TYR263HIS | N/A | Swiss-Prot | VAR_006169 | Disease | p.TYR436HIS | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013995 | Disease | p.VAL423ALA | Hypophosphatasia (HOPS) | dbSNP | rs34605986 | Polymorphism | p.VAL522ALA | N/A | Swiss-Prot | VAR_006168 | Disease | p.VAL382ILE | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_025912 | Disease | p.VAL128MET | Hypophosphatasia (HOPS) | Swiss-Prot | VAR_013998 | Disease | p.VAL459MET | Hypophosphatasia (HOPS) | OMIM | 171760.0001 | Disease | p.ALA162THR | HYPOPHOSPHATASIA, INFANTILE | OMIM | 171760.0022 | Disease | p.ALA176THR | HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD, INCLUDED | OMIM | 171760.0015 | Disease | p.ALA99THR | HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT, INCLUDED;;||ODONTOHYPOPHOSPHATASIA, INCLUDED | OMIM | 171760.0006 | Disease | p.ALA16VAL | HYPOPHOSPHATASIA, INFANTILE | OMIM | 171760.0023 | Disease | p.ARG272CYS | HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD, INCLUDED | OMIM | 171760.0002 | Disease | p.ARG54CYS | HYPOPHOSPHATASIA, INFANTILE | OMIM | 171760.0013 | Disease | p.ARG119HIS | HYPOPHOSPHATASIA, CHILDHOOD | OMIM | 171760.0004 | Disease | p.ARG54PRO | HYPOPHOSPHATASIA, INFANTILE | OMIM | 171760.0017 | Disease | p.ASN400SER | HYPOPHOSPHATASIA, INFANTILE | OMIM | 171760.0003 | Disease | p.ASP277ALA | HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD, INCLUDED;;||HYPOPHOSPHATASIA, ADULT, INCLUDED | OMIM | 171760.0009 | Disease | p.ASP378VAL | HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, ADULT, INCLUDED | OMIM | 171760.0005 | Disease | p.GLN190PRO | HYPOPHOSPHATASIA, INFANTILE | OMIM | 171760.0008 | Disease | p.GLU174LYS | HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD, INCLUDED;;||HYPOPHOSPHATASIA, ADULT | OMIM | 171760.0020 | Disease | p.GLU281LYS | HYPOPHOSPHATASIA, INFANTILE | OMIM | 171760.0019 | Disease | p.GLY439ARG | HYPOPHOSPHATASIA, INFANTILE | OMIM | 171760.0010 | Disease | p.GLY317ASP | HYPOPHOSPHATASIA, INFANTILE | OMIM | 171760.0014 | Disease | p.GLY145VAL | HYPOPHOSPHATASIA, CHILDHOOD | OMIM | 171760.0021 | Disease | p.GLY232VAL | HYPOPHOSPHATASIA, CHILDHOOD||ODONTOHYPOPHOSPHATASIA, INCLUDED | OMIM | 171760.0011 | Disease | p.PHE310LEU | HYPOPHOSPHATASIA, INFANTILE | OMIM | 171760.0018 | Disease | p.PRO91LEU | ODONTOHYPOPHOSPHATASIA | OMIM | 171760.0007 | Disease | p.TYR419HIS | HYPOPHOSPHATASIA, INFANTILE |
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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