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HomeAll Cancer Mutant ClonesPTEN Mutants

Description of the mutations of PTEN (NM_000314) 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
RC400429 Y76fs*176c.227_228delATFrameshift
RC400443 L139*139c.416T>GTruncation
RC400413 P247fs*5247c.741_742insAFrameshift
RC400414 R173H173c.518G>AMissense
RC400415 R173C173c.517C>TMissense
RC400416 R130G130c.388C>GMissense
RC400417 R130Q130c.389G>AMissense
RC400418 R130P130c.389G>CMissense
RC400419 R130L130c.389G>TMissense
RC400420 R142Q142c.425G>AMissense
RC400421 K164fs*3164c.491delAFrameshift
RC400422 L112V112c.334C>GMissense
RC400423 C105W105c.315T>GMissense
RC400424 R233*233c.697C>TTruncation
RC400425 N323fs*2323c.968_969insAFrameshift
RC400426 V317fs*3317c.950_953delTACTFrameshift
RC400427 G132D132c.395G>AMissense
RC400428 H123Y123c.367C>TMissense
RC400430 C105F105c.314G>TMissense
RC400431 L318fs*2318c.952_955delCTTAFrameshift
RC400432 T319fs*24319c.956_959delCTTTFrameshift
RC400433 T319fs*6319c.955_956insAFrameshift
RC400434 T319fs*1319c.955_958delACTTFrameshift
RC400435 F241fs*15241c.723_724insTTFrameshift
RC400436 I101T101c.302T>CMissense
RC400437 P246L246c.737C>T Missense
RC400438 L42R42c.125T>GMissense
RC400439 A151T151c.451G>AMissense
RC400440 R159K159c.476G>AMissense
RC400441 G129R129c.385G>AMissense
RC400442 R130*130c.388C>TTruncation
RC400444 E299*299c.895G>TTruncation
RC400445 E7*7c.19G>TTruncation
RC400446 Q245*245c.733C>TTruncation
RC400447 S229*229c.686C>GTruncation
RC400448 Q214*214c.640C>TTruncation
RC400449 E235*235c.703G>TTruncation
RC400450 K6fs*46c.17_18delAAFrameshift
RC400451 Q110E110c.328C>GMissense
RC400452 G149R149c.446_447AA>GCMissense
RC400453 F347fs*13347c.1040_1041delTCFrameshift
RC400454 R130fs*4130c.389delGFrameshift
RC400455 G165R165c.493G>AMissense

 

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