Mutations on the Protein: Q16832 From Positions: 86 To 128
Swiss-Prot Polymorphism: VAR_041498 
Swiss-Prot Disease: VAR_065719 
p.GLU113LYS
N/A
| |
N/A
|
|---|
Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL)
|
|---|
OMIM Disease: 191311.0005 
p.GLU113LYS
N/A
| |
N/A
|
|---|
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
|
|---|
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 |
|
3
2
0
1