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HomeAll Cancer Mutant ClonesTERT Mutants

Description of the mutations of TERT (NM_198253) 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
RC403755 L55Q55164T>APulmonary fibrosis, idiopathic
RC403756 P65A65193C>GAcute myeloid leukaemia ?
RC403757 A202T202604G>AAplastic anaemia
RC403758 v299M299895G>AAcute myeloid leukaemia ?
RC403759 H412Y4121234C>TAplastic anaemia
RC403760 R522K5221565G>AAcute myeloid leukaemia ?
RC403761 K570N5701710G>CAplastic anaemia
RC403762 R631Q6311892G>ADyskeratosis congenita
RC403763 G682D6822045G>AAplastic anaemia
RC403764 v694M6942080G>AAplastic anaemia
RC403765 P702L7022105C>TPulmonary fibrosis, adult-onset
RC403766 P704S7042110C>TDyskeratosis congenita
RC403767 A716v7162147C>TAplastic anaemia
RC403768 P721R7212162C>GDyskeratosis congenita
RC403769 T726M7262177C>TAplastic anaemia
RC403770 Y772C7722315A>GAplastic anaemia
RC403771 R811C8112431C>TDyskeratosis congenita
RC403772 Y846C8462537A>GDyskeratosis congenita
RC403773 R865H8652594G>APulmonary fibrosis, idiopathic
RC403774 H876Q8762628C>GDyskeratosis congenita
RC403775 R901W9012701C>THoyeraal-Hreidarsson syndrome
RC403776 K902N9022706G>CDyskeratosis congenita
RC403777 S957R9572869A>CPulmonary fibrosis, adult-onset
RC403778 R979W9792935C>TAplastic anaemia
RC403779 C1015R10153043T>CAplastic anaemia
RC403780 L1019F10193055C>TPulmonary fibrosis, adult-onset
RC403781 K1050E10503148A>GPulmonary fibrosis, adult-onset
RC403782 v1090M10903268G>AAplastic anaemia
RC403783 T1110M11103329C>TPulmonary fibrosis, idiopathic
RC403784 F1127L11273379T>CDyskeratosis congenita

 

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