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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs73730479 | Polymorphism | p.ALA630THR | N/A | | Swiss-Prot | VAR_020996 | Disease | p.ARG807GLN | Renal tubular acidosis, distal, autosomal recessive (RTADR) | | Swiss-Prot | VAR_020995 | Disease | p.ARG449HIS | Renal tubular acidosis, distal, autosomal recessive (RTADR) | | Swiss-Prot | VAR_017257 | Disease | p.GLY820ARG | Renal tubular acidosis, distal, autosomal recessive (RTADR) | | Swiss-Prot | VAR_020993 | Disease | p.GLY175ASP | Renal tubular acidosis, distal, autosomal recessive (RTADR) | | Swiss-Prot | VAR_066613 | Polymorphism | p.HIS604GLN | N/A | | dbSNP | rs61747674 | Polymorphism | p.LEU345ILE | N/A | | dbSNP | rs3807153 | Polymorphism | p.MET580THR | N/A | | Swiss-Prot | VAR_017256 | Disease | p.MET580THR | Renal tubular acidosis, distal, autosomal recessive (RTADR) | | Swiss-Prot | VAR_066612 | Polymorphism | p.PHE554LEU | N/A | | Swiss-Prot | VAR_017255 | Disease | p.PRO524LEU | Renal tubular acidosis, distal, autosomal recessive (RTADR) | | dbSNP | rs10258719 | Polymorphism | p.VAL2ALA | N/A | | OMIM | 605239.0010 | Disease | p.ARG807GLN | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET||SENSORINEURAL HEARING LOSS | | OMIM | 605239.0001 | Disease | p.GLU753TER | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE | | OMIM | 605239.0002 | Disease | p.GLY820ARG | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE | | OMIM | 605239.0005 | Disease | p.MET580THR | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE | | OMIM | 605239.0008 | Disease | p.PRO524LEU | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE | | OMIM | 605239.0009 | Disease | p.TYR502TER | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET||SENSORINEURAL HEARING LOSS |
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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308153516
VPP4_HUMAN RecName: Full=V-type proton ATPase 116 kDa subunit a isoform 4; Short=V-ATPase 116 kDa isoform a4; AltName: Full=Vacuolar proton translocating ATPase 116 kDa subunit a isoform 4; AltName: Full=Vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform
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