| 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.3214C>A |
c.492C>A |
-
|
p.Phe164Leu |
Missense defects |
Direct sequencing |
Zhong F et al., 2011
|
Click here |
| 2 |
Substitution |
g.16444C>T |
c.1126C>T |
-
|
p.His376Tyr |
Missense defects |
Direct sequencing |
Zhong F et al., 2011
|
Click here |
| 3 |
Substitution |
g.16700C>T |
c.1192C>T |
-
|
p.Arg398Trp |
Missense defects |
Direct sequencing |
Zhong F et al., 2011
|
Click here |
| 4 |
Substitution |
g.16957G>A |
c.1303G>A |
-
|
p.Gly435Arg |
Missense defects |
Direct sequencing |
Zhong F et al., 2011
|
Click here |
|