Variant position: 152 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 447 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human TIRVSFSGVDPEAKYIVLMD IVPVDNKRYRYAYHRSSWLVA
Mouse TIRVSFSGVDPESKYIVLMD IVPVDNKRYRYAYHRSSWLVA
Chicken TIRVSFSGVDPEAKYIVLMD IVPVDNKRYRYAYHRSSWLVA
Xenopus laevis TIRVSFSGVDADAKYIVLMD IVPVDNKRYRYAYHRSAWLVA
Xenopus tropicalis TIRVSFSGVDADAKYIVLMD IVPVDNKRYRYAYHRSSWLVA
Zebrafish TIRVSFSGVDPDAKYIVLMD IVPVDNKRYRYAYHRSSWLVA
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 447 T-box transcription factor TBX20
109 – 288 T-box
Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy.
Kirk E.P.; Sunde M.; Costa M.W.; Rankin S.A.; Wolstein O.; Castro M.L.; Butler T.L.; Hyun C.; Guo G.; Otway R.; Mackay J.P.; Waddell L.B.; Cole A.D.; Hayward C.; Keogh A.; Macdonald P.; Griffiths L.; Fatkin D.; Sholler G.F.; Zorn A.M.; Feneley M.P.; Winlaw D.S.; Harvey R.P.;
Am. J. Hum. Genet. 81:280-291(2007)
Cited for: VARIANT ASD4 MET-152;
A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects.
Posch M.G.; Gramlich M.; Sunde M.; Schmitt K.R.; Lee S.H.; Richter S.; Kersten A.; Perrot A.; Panek A.N.; Al Khatib I.H.; Nemer G.; Megarbane A.; Dietz R.; Stiller B.; Berger F.; Harvey R.P.; Ozcelik C.;
J. Med. Genet. 47:230-235(2010)
Cited for: VARIANTS ASD4 MET-121 AND MET-152; CHARACTERIZATION OF VARIANTS ASD4 MET-121 AND MET-152;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.