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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P04053 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|
Synonyms | Comment | Organism |
---|---|---|
DNTT | - |
Homo sapiens |
TdT | - |
Homo sapiens |
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 |