Mutations on the Protein: P40337 From Positions: 192 To 202
Swiss-Prot Disease: VAR_005779 

p.ARG200TRP

N/A
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N/A
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Von Hippel-Lindau disease (VHLD)
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Swiss-Prot Disease: VAR_005778 

p.LEU198ARG

N/A
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N/A
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Von Hippel-Lindau disease (VHLD)
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Swiss-Prot Disease: VAR_035001 

p.LEU198GLN

N/A
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N/A
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Pheochromocytoma (PCC)
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Swiss-Prot Disease: VAR_035000 

p.PRO192SER

N/A
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N/A
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Erythrocytosis, familial, 2 (ECYT2)
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OMIM Disease: 608537.0019 

p.ARG200TRP

N/A
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N/A
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POLYCYTHEMIA, CHUVASH TYPE
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OMIM Disease: 608537.0023 

p.PRO192SER

N/A
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N/A
|
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ERYTHROCYTOSIS, FAMILIAL, 2
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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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