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Known Diseases associated with this Protein: |  SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
| SPASTIC ATAXIA AUTOSOMAL RECESSIVE 4 (SPAX4)
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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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 Default View:
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Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs1047991 | Polymorphism | p.ARG162CYS | N/A | | Swiss-Prot | VAR_064907 | Disease | p.ASN478ASP | Spastic ataxia autosomal recessive 4 (SPAX4) | | dbSNP | rs114438816 | Polymorphism | p.ASP39TYR | N/A | | Swiss-Prot | VAR_027603 | Polymorphism | p.CYS419ARG | N/A | | Swiss-Prot | VAR_027604 | Polymorphism | p.SER546ASN | N/A | | Swiss-Prot | VAR_027602 | Polymorphism | p.TYR221HIS | N/A | | OMIM | 613669.0001 | Disease | p.ASN478ASP | SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE |
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
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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74753002
PAPD1_HUMAN RecName: Full=Poly(A) RNA polymerase, mitochondrial; Short=PAP; AltName: Full=PAP-associated domain-containing protein 1; AltName: Full=Polynucleotide adenylyltransferase; AltName: Full=Terminal uridylyltransferase 1; Short=TUTase 1; AltName: Full=mtPAP; Flags: Precursor
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