Mutations on the Protein: Q04671 From Positions: 293 To 335
Swiss-Prot Disease: VAR_020626 
p.ALA334VAL
N/A
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N/A
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Albinism, oculocutaneous, 2 (OCA2)
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dbSNP Polymorphism: rs1800401 
OMIM Disease: 611409.0007 
p.ALA334VAL
N/A
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N/A
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ALBINISM, OCULOCUTANEOUS, TYPE II
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OMIM Disease: 611409.0011 
p.ARG305TRP
N/A
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N/A
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SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES||SKIN/HAIR/EYE PIGMENTATION 1, BLUE/BROWN EYES, 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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