L143P (p.Leu143Pro) variant of TBX3 (T-box transcription factor TBX3)
L143P (p.Leu143Pro) in TBX3 (T-box transcription factor TBX3) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in UMS. The record also includes published literature.
L143P (p.Leu143Pro) variant details
- p.Leu143Pro
- UniProt VAR 009601
- Pathogenic
- in UMS
- Missense
- EBI: Pathogenic (in UMS)
- UniProt: Pathogenic (in UMS)
- Cited in: The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome. (PMID 10330342)
- Cited in: The T-box repressors TBX2 and TBX3 specifically regulate the tumor suppressor gene p14ARF via a variant T-site in the… (PMID 12000749)