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Known Diseases associated with this Protein: | INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFI
| MELANOMA, CUTANEOUS MALIGNANT 5 (CMM5)
| MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
| SKIN/HAIR/EYE PIGMENTATION 2, BLOND HAIR/FAIR SKIN
| SKIN/HAIR/EYE PIGMENTATION 2, BLOND HAIR/FAIR SKIN, INCLUDED
| SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN
| UV-INDUCED SKIN DAMAGE, SUSCEPTIBILITY TO
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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_042661 | Polymorphism | p.ALA166GLY | N/A | dbSNP | rs35784916 | Polymorphism | p.ALA171SER | N/A | Swiss-Prot | VAR_008522 | Polymorphism | p.ARG151CYS | N/A | dbSNP | rs885479 | Polymorphism | p.ARG163GLN | N/A | Swiss-Prot | VAR_009522 | Polymorphism | p.ARG67GLN | N/A | dbSNP | rs1805007 | Polymorphism | p.ARG151GLY | N/A | Swiss-Prot | VAR_059023 | Polymorphism | p.ARG142HIS | N/A | Swiss-Prot | VAR_013632 | Polymorphism | p.ARG162PRO | N/A | dbSNP | rs1805008 | Polymorphism | p.ARG160TRP | N/A | Swiss-Prot | VAR_059024 | Polymorphism | p.ASN281SER | N/A | Swiss-Prot | VAR_003507 | Polymorphism | p.ASP84GLU | N/A | dbSNP | rs1805009 | Polymorphism | p.ASP294HIS | N/A | Swiss-Prot | VAR_059025 | Disease | p.CYS289ARG | Melanoma, cutaneous malignant 5 (CMM5) | Swiss-Prot | VAR_042654 | Polymorphism | p.GLY89ARG | N/A | Swiss-Prot | VAR_042656 | Polymorphism | p.GLY104SER | N/A | dbSNP | rs33932559 | Polymorphism | p.ILE120THR | N/A | Swiss-Prot | VAR_013614 | Polymorphism | p.ILE155THR | N/A | Swiss-Prot | VAR_013611 | Polymorphism | p.ILE40THR | N/A | Swiss-Prot | VAR_059021 | Polymorphism | p.LEU93ARG | N/A | Swiss-Prot | VAR_042663 | Polymorphism | p.LEU192MET | N/A | Swiss-Prot | VAR_059022 | Disease | p.MET128THR | Melanoma, cutaneous malignant 5 (CMM5) | dbSNP | rs3212366 | Polymorphism | p.PHE196LEU | N/A | Swiss-Prot | VAR_042660 | Polymorphism | p.PRO159THR | N/A | Swiss-Prot | VAR_059019 | Disease | p.SER41PHE | Melanoma, cutaneous malignant 5 (CMM5) | Swiss-Prot | VAR_042659 | Polymorphism | p.THR157ILE | N/A | Swiss-Prot | VAR_042655 | Polymorphism | p.THR95MET | N/A | Swiss-Prot | VAR_059020 | Disease | p.VAL51ALA | Melanoma, cutaneous malignant 5 (CMM5) | dbSNP | rs3212365 | Polymorphism | p.VAL156LEU | N/A | dbSNP | rs1805005 | Polymorphism | p.VAL60LEU | N/A | Swiss-Prot | VAR_013613 | Polymorphism | p.VAL122MET | N/A | Swiss-Prot | VAR_059018 | Disease | p.VAL38MET | Melanoma, cutaneous malignant 5 (CMM5) | dbSNP | rs2228479 | Polymorphism | p.VAL92MET | N/A | OMIM | 155555.0004 | Disease | p.ARG151CYS | SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN||INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFI | OMIM | 155555.0005 | Disease | p.ARG160TRP | SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN||INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFI | OMIM | 155555.0003 | Disease | p.ASP84GLU | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 | OMIM | 155555.0001 | Disease | p.ASP294HIS | SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN | OMIM | 155555.0009 | Disease | p.PRO159THR | UV-INDUCED SKIN DAMAGE, SUSCEPTIBILITY TO | OMIM | 155555.0008 | Disease | p.THR157ILE | UV-INDUCED SKIN DAMAGE, SUSCEPTIBILITY TO | OMIM | 155555.0006 | Disease | p.VAL60LEU | SKIN/HAIR/EYE PIGMENTATION 2, BLOND HAIR/FAIR SKIN | OMIM | 155555.0002 | Disease | p.VAL92MET | SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN||SKIN/HAIR/EYE PIGMENTATION 2, BLOND HAIR/FAIR SKIN, INCLUDED |
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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