Mutations on the Protein: P40692 From Positions: 189 To 227
Swiss-Prot Polymorphism: VAR_004449 
Swiss-Prot Polymorphism: VAR_020469 
Swiss-Prot Disease: VAR_004451 

p.ARG226LEU

N/A
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N/A
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Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
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Swiss-Prot Polymorphism: VAR_054527 
dbSNP Polymorphism: rs1799977 
Swiss-Prot Polymorphism: VAR_054528 
Swiss-Prot Polymorphism: VAR_004450 
Swiss-Prot Disease: VAR_004448 

p.SER193PRO

N/A
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N/A
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Hereditary non-polyposis colorectal cancer 2 (HNPCC2)
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dbSNP Polymorphism: rs2308317 
OMIM Disease: 120436.0010 

p.ARG226TER

N/A
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N/A
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COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2||MISMATCH REPAIR CANCER SYNDROME, INCLUDED
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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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