T417_D419delinsI
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deletion |
gain of function - predicted |
KIT T417_D419delinsI results in the deletion of 3 amino acids in the Ig-like C2-type domain 5 of the Kit protein from amino acids 417 to 419, combined with the insertion of an Isoleucine (I) at the same site (UniProt.org). T417_D419delinsI results in constitutive ligand-independent phosphorylation of Kit in cell culture in one study (PMID: 16015387) and therefore, is predicted to lead to a gain of Kit protein function. |
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T417_D419delinsRA
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deletion |
gain of function - predicted |
KIT T417_D419delinsRA results in the deletion of three amino acids in the extracellular domain of the Kit protein from amino acids 417 to 419, combined with the insertion of an arginine (R) and an alanine (A) at the same site (UniProt.org). T417_D419delinsRA has not been characterized, however similar Kit exon 8 mutations are activating, thus T417_D419delinsRA is predicted to lead to a gain of Kit protein function (PMID: 16015387, PMID: 15618474, PMID: 20484085). |
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T417_D419delinsY
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deletion |
gain of function |
KIT T417_D419delinsY results in the deletion of three amino acids in the Ig-like C2-type 5 domain of the Kit protein from amino acids 417 to 419, combined with the insertion of a Tyrosine (Y) at the same site (UniProt.org). T417_D419delinsY results in constitutive phosphorylation of Kit, activation of Akt and Stat pathways, and is transforming in culture (PMID: 20484085). |
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T417_Y418delinsH
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deletion |
gain of function - predicted |
KIT T417_Y418delinsH results in the deletion of two amino acids in the Ig-like C2-type 5 domain of the Kit protein from amino acids 417 to 418, combined with the insertion of an Histidine (H) at the same site (UniProt.org). T417_Y418delinsH has not been characterized, however similar Kit exon 8 mutations are activating, thus T417_Y418delinsH is predicted to lead to a gain of Kit protein function (PMID: 16015387, PMID: 15618474, PMID: 20484085). |
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Y418_D419delinsG
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deletion |
gain of function - predicted |
KIT Y418_D419delinsG results in the deletion of two amino acids in the Ig-like C2-type 5 domain of the Kit protein from amino acids 418 to 419, combined with the insertion of a Glycine (G) at the same site (UniProt.org). Y418_D419delinsG has not been characterized, however similar Kit exon 8 mutations are activating, thus Y418_D419delinsG is predicted to lead to a gain of Kit protein function (PMID: 16015387, PMID: 15618474, PMID: 20484085). |
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Y418_D419delinsS
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deletion |
gain of function - predicted |
KIT Y418_D419delinsS results in the deletion of two amino acids in the Ig-like C2-type 5 domain of the Kit protein from amino acids 418 to 419, combined with the insertion of a Serine (S) at the same site (UniProt.org). Y418_D419delinsS is predicted to lead to a gain of Kit protein function because other AML-associated KIT exon 8 deletion mutations are activating (PMID: 16015387). |
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