| Sl.No |
Mutation type |
Genomic level change |
CDS level change |
RNA level change |
Protein level change |
Mutation effects |
Expt. name |
PubMed |
Mutation viewer |
| 1 |
Substitution |
g.1099C>T |
c.100C>T |
-
|
p.Arg34Trp |
Missense defects |
Direct sequencing |
Walne AJ et al., 2007
|
Click here |
|