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HomeAll Cancer Mutant ClonesMSH6 Mutants

Description of the mutations of MSH6 (NM_000179) 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
RC401386 A20V2059C>TColorel / endomeril ner
RC401387 G54A54161G>CColorel ner
RC401388 K99N99297G>TColorel ner
RC401389 W142X142426G>AColorel ner, non-polyposis
RC401390 S144I144431G>TColorel ner, non-polyposis
RC401391 S156X156467C>GEndomeril ner
RC401392 S200X200599C>GColorel ner
RC401393 Y214X214642C>AColorel ner, non-polyposis
RC401394 Y214X214642C>GColorel ner, erly onse
RC401395 S227I227680G>TColorel ner
RC401396 Q236X236706C>TColorel ner, non-polyposis
RC401397 R240X240718C>TColorel ner, non-polyposis
RC401398 R248X248742C>TEndomeril ner
RC401399 S252X252755C>GEndomeril ner
RC401400 E272X272814G>TColorel ner
RC401401 S285I285854G>TColorel ner
RC401402 K295R295884A>GMuliple olorel denom ?
RC401403 F340S3401019T>CColon ner, bres ner, leukemi
RC401404 Y397F3971190A>TMuliple olorel denom ?
RC401405 I425V4251273A>GColorel ner, non-polyposis
RC401406 Y433X4331299T>AColorel ner, non-polyposis
RC401407 L449P4491346T>CColorel / endomeril ner
RC401408 R468H4681403G>AColorel ner, non-polyposis
RC401409 R482X4821444C>TColorel ner, non-polyposis
RC401410 M492V4921474A>GColorel ner, non-polyposis
RC401411 S503C5031508C>GMuliple olorel denom ?
RC401412 V509A5091526T>CColorel ner, non-polyposis
RC401413 Q522R5221565A>GColorel ner
RC401414 C559Y5591676G>AEndomeril ner
RC401415 G566R5661696G>AColorel ner
RC401416 S580L5801739C>TColorel ner, non-polyposis
RC401417 S612X6121835C>AColorel ner, non-polyposis
RC401418 E619D6191857A>CColorel ner
RC401419 S666P6661996T>CColorel ner, non-polyposis
RC401420 G685A6852054G>CColorel ner
RC401421 Q698E6982092C>GColorel ner, non-polyposis
RC401422 S702X7022105C>AColorel ner, non-polyposis
RC401423 I725M7252175C>GColorel ner
RC401424 Q731X7312191C>TEndomeril ner
RC401425 R732X7322194C>TColorel ner
RC401426 T764N7642291C>AColorel ner, non-polyposis
RC401427 C765W7652295C>GColorel / endomeril ner
RC401428 R772W7722314C>TColorel ner, non-polyposis
RC401429 A780G7802339C>GEndomeril ner
RC401430 A787V7872360C>TColorel ner
RC401431 V800L8002398G>CColorel ner
RC401432 D803G8032408A>GColorel ner
RC401433 Q835X8352503C>TColorel ner, non-polyposis
RC401434 Y850C8502549A>GColorel ner, non-polyposis
RC401435 K854M8542561A>TColorel ner
RC401436 V878A8782633T>CColorel / endomeril ner
RC401437 R901H9012702G>AColorel / endomeril ner
RC401438 L905X9052714T>AColorel ner, non-polyposis
RC401439 R911X9112731C>TEndomeril ner
RC401440 Q939X9392815C>TColorel ner
RC401441 Y969C9692906A>GColon ner
RC401442 R976H9762927G>AColorel ner
RC401443 Y977X9772931C>GColorel / endomeril ner
RC401444 E995X9952983G>TColorel ner
RC401445 R1005X10053013C>TColorel ner
RC401446 W1007X10073020G>ANeurofibromosis, ype 1
RC401447 A1021D10213062C>AColorel ner
RC401448 R1035X10353103C>TColorel ner, non-polyposis
RC401449 R1068X10683202C>TColorel ner
RC401450 G1069E10693206G>AColorel ner, non-polyposis
RC401451 R1076C10763226C>TColorel ner
RC401452 P1087T10873259C>AColorel ner
RC401453 R1095H10953284G>AColorel ner
RC401454 T1100M11003299C>TColorel ner
RC401455 E1119X11193355G>TColorel ner, non-polyposis
RC401456 Q1146X11463436C>TMuir-Torre syndrome
RC401457 E1163V11633488A>TColorel ner, non-polyposis
RC401458 E1193K11933577G>AEndomeril ner
RC401459 T1219I12193656C>TColorel ner
RC401460 H1248D12483742C>GColorel ner
RC401461 Y1256X12563768T>GColorel ner, non-polyposis
RC401462 Q1258X12583772C>TColorel ner, non-polyposis
RC401463 Q1280X12803838C>TColorel ner
RC401464 T1284M12843851C>TColorel ner
RC401465 R1321S13213963A>TEndomeril ner
RC401466 R1321G13213961A>GColorel ner, erly onse
RC401467 R1331X13313991C>TColorel ner, non-polyposis
RC401468 L1354Q13544061T>AColorel ner

 

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