Mutations on the Protein: O43918 From Positions: 55 To 82
Swiss-Prot Disease: VAR_026483 

p.PHE77SER

N/A
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N/A
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Autoimmune polyendocrine syndrome 1 (APS1)
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Swiss-Prot Disease: VAR_013716 

p.TRP78ARG

N/A
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N/A
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Autoimmune polyendocrine syndrome 1 (APS1)
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Swiss-Prot Disease: VAR_013717 

p.VAL80LEU

N/A
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N/A
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Autoimmune polyendocrine syndrome 1 (APS1)
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OMIM Disease: 607358.0011 

p.VAL80GLY

N/A
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N/A
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AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I
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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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