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Known Diseases associated with this Protein: |  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (COXPD14)
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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 | rs11243011 | Polymorphism | p.ASN280SER | N/A | | Swiss-Prot | VAR_069489 | Disease | p.ASP391VAL | Combined oxidative phosphorylation deficiency 14 (COXPD14) | | Swiss-Prot | VAR_069488 | Disease | p.ILE329THR | Combined oxidative phosphorylation deficiency 14 (COXPD14) | | Swiss-Prot | VAR_052642 | Polymorphism | p.SER57CYS | N/A | | Swiss-Prot | VAR_069487 | Disease | p.TYR144CYS | Combined oxidative phosphorylation deficiency 14 (COXPD14) | | OMIM | 611592.0003 | Disease | p.ASP391VAL | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 | | OMIM | 611592.0002 | Disease | p.ILE329THR | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 | | OMIM | 611592.0001 | Disease | p.TYR144CYS | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 |
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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55976225
SYFM_HUMAN RecName: Full=Phenylalanine--tRNA ligase, mitochondrial; AltName: Full=Phenylalanyl-tRNA synthetase; Short=PheRS; Flags: Precursor
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