Mutations on the Protein: Q04671 From Positions: 419 To 461
dbSNP Polymorphism: rs1800407 
Swiss-Prot Disease: VAR_006129 
p.ARG419TRP
N/A
| |
N/A
|
|---|
Albinism, oculocutaneous, 2 (OCA2)
|
|---|
Swiss-Prot Polymorphism: VAR_006131 
Swiss-Prot Polymorphism: VAR_007939 
Swiss-Prot Disease: VAR_006133 
p.MET446VAL
N/A
| |
N/A
|
|---|
Albinism, oculocutaneous, 2 (OCA2)
|
|---|
Swiss-Prot Disease: VAR_006132 
p.VAL443ILE
N/A
| |
N/A
|
|---|
Albinism, oculocutaneous, 2 (OCA2)
|
|---|
OMIM Disease: 611409.0012 
p.ARG419GLN
N/A
| |
N/A
|
|---|
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
|
|---|
OMIM Disease: 611409.0004 
p.VAL443ILE
N/A
| |
N/A
|
|---|
ALBINISM, OCULOCUTANEOUS, TYPE II
|
|---|
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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