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HomeAll Cancer Mutant ClonesAMHR2 Mutants

Description of the mutations of AMHR2 (NM_020547) Mutants

Keys for Mutation Description

A.A. substitution
Truncation
NT deletion
NT insertion
R280G: Arg at aa-position 280 mutated to Gly
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted

 

SKUMutation DescriptionAffected Codon#Affected NT#DescriptionEffect
RC403209 R54C54160C>TPersisen Mullerin dus syndrome
RC403210 R80X80238C>TPersisen Mullerin dus syndrome
RC403211 R97X97289C>TPersisen Mullerin dus syndrome
RC403212 G142V142425G>TPersisen Mullerin dus syndrome
RC403213 H282Q282846T>GPersisen Mullerin dus syndrome
RC403214 D426G4261277A>GPersisen Mullerin dus syndrome
RC403215 V458A4581373T>CPersisen Mullerin dus syndrome
RC403216 D491H4911471G>CPersisen Mullerin dus syndrome
RC403217 R504C5041510C>TPersisen Mullerin dus syndrome

 

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