Literature summary for 2.7.7.31 extracted from

Troshchynsky, A.; Dzneladze, I.; Chen, L.; Sheng, Y.; Saridakis, V.; Wu, G.E.
Functional analyses of polymorphic variants of human terminal deoxynucleotidyl transferase (2015), Genes Immun., 16, 388-398.

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Protein Variants

Protein Variants	Comment	Organism
A445T	natural variant of TdT, decrease in polymerase ability	Homo sapiens
D280H	natural variant of TdT	Homo sapiens
L397S	natural variant of TdT, impaired polymerase activity in vitro and impaired N-additions in an in vivo V(D)J assay	Homo sapiens
R431C	natural variant of TdT, loss of polymerase activity	Homo sapiens
R460Q	natural variant of TdT	Homo sapiens
T450S	natural variant of TdT. Mutation leads to a decrease in the amount of product	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P04053	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining

Synonyms

Synonyms	Comment	Organism
DNTT	-	Homo sapiens
TdT	-	Homo sapiens

General Information

General Information	Comment	Organism
physiological function	the genetic variations generated by the hTdT single-nucleotide polymorphisms will vary the human immune repertoire and thus its responses. In vitro, six natural variants of TdT differ from wild-type TdT in polymerization ability, with four having significantly lower activity. In vivo, the presence of TdT varies both the efficiency of recombination and N-addition, with two variants generating coding joints with significantly fewer N-additions	Homo sapiens

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Release 2023.1 (January 2023)