In Depth Mutation Analysis: c.82T>C (p.Cys28Arg)
c.82T>C
p.Cys28Arg (-19)
Mutation Type:
Point
Mutation Effect:
Missense
Domain:
Signal Peptide
Location:
Exon 1
No. of bases:
1
CpG:
N
Comments:
-
No. of patients reported:
9
Patient Information : Show
Residue Information :
Name | Type | Cyclic | Size | Hydrophobicity | Charge | |
---|---|---|---|---|---|---|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Structural Implications :
NOTE: If a Java error message appears, please click the following LINK.