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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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| SCS2 | COG5066 | 8.9e-13 | 8 | 234 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_026743 | Disease | p.PRO56SER | Spinal muscular atrophy, proximal, adult, autosomal dominant (SMAPAD) | | Swiss-Prot | VAR_067964 | Disease | p.THR46ILE | Amyotrophic lateral sclerosis 8 (ALS8) | | OMIM | 605704.0001 | Disease | p.PRO56SER | AMYOTROPHIC LATERAL SCLEROSIS 8||SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE, INCLUDED;;||AMYOTROPHIC LATERAL SCLER | | OMIM | 605704.0002 | Disease | p.THR46ILE | AMYOTROPHIC LATERAL SCLEROSIS 8 |
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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24638339
VAPB_HUMAN RecName: Full=Vesicle-associated membrane protein-associated protein B/C; Short=VAMP-B/VAMP-C; Short=VAMP-associated protein B/C; Short=VAP-B/VAP-C
4
0
2
0
2
