Mutation Format

HPMV accepts the following mutation specifiers:

Point mutations
A123L p.A123L p.Ala123Leu
Point deletions
p.A123del p.Ala123del
Range deletions
p.A123_C124del p.Ala123_Cys124del
Point deletions with insertion
p.A123delinsWV p.Ala123delinsTrpVal
Range deletions with insertion
p.A123_C124delinsW p.Ala123_Cys124delinsTrp
Nonsense mutations
A123* p.A123* p.Ala123Ter
Frameshift mutations
p.A123fs p.Ala123fs p.A123Gfs p.Ala123Glyfs p.A123Gfs*26 p.Ala123GlyfsTer23
Insertions (sequence)
p.A123_C124insQSK p.Ala123_Cys124insGlnSerLys
Insertions (length)
p.A123_C124ins3 p.Ala123_Cys124ins3
Point duplications
p.A123dup p.Ala123dup
Range dublications
p.A123_C124dup p.Ala123_Cys124dup
N-terminal extensions
p.M1ext-5 p.Met1ext-5
C-terminal extensions
p.*110Gext*17 p.Ter110GlnextTer17
General labels
HPMV uses the first number in the label as the position

At present, only point mutations are interpreted for function consequences.