Mutations on the Protein: Q04671 From Positions: 587 To 629
dbSNP Polymorphism: rs1800414 
Swiss-Prot Disease: VAR_020632 

p.ILE617LEU

N/A
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N/A
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Albinism, oculocutaneous, 2 (OCA2)
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Swiss-Prot Disease: VAR_006138 

p.LYS614ASN

N/A
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N/A
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Albinism, oculocutaneous, 2 (OCA2)
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Swiss-Prot Disease: VAR_020631 

p.LYS614GLU

N/A
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N/A
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Albinism, oculocutaneous, 2 (OCA2)
|
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Swiss-Prot Disease: VAR_006137 

p.THR592ILE

N/A
| |

N/A
|
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Albinism, oculocutaneous, 2 (OCA2)
|
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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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