Sequence information
Variant position: 296 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 442 The length of the canonical sequence.
Location on the sequence:
TTTTTLWRRNAEGEPVCNAC
G LYMKLHGVPRPLAMRKEGIQ
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 TTTTTLWRRNAEGEPVCNACG LYMKLHGVPRPLAMRKEGIQ
TTTTTLWRRNAEGEPVCNACG LYMKLHGVPRPLAMRKEGIQ
Mouse TTTTTLWRRNAEGEPVCNACG LYMKLHGVPRPLAMRKEGIQ
Rat TTTTTLWRRNAEGEPVCNACG LYMKLHGVPRPLAMRKEGIQ
Xenopus laevis TTTTTLWRRNAEGEPVCNACG LYMKLHGVPRPLAMKKEGIQ
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
Chain
1 – 442
Transcription factor GATA-4
Modified residue
300 – 300
N6-methyllysine; by EZH2
Helix
293 – 301
Literature citations
Disease model of GATA4 mutation reveals transcription factor cooperativity in human cardiogenesis.
Ang Y.S.; Rivas R.N.; Ribeiro A.J.; Srivas R.; Rivera J.; Stone N.R.; Pratt K.; Mohamed T.M.; Fu J.D.; Spencer C.I.; Tippens N.D.; Li M.; Narasimha A.; Radzinsky E.; Moon-Grady A.J.; Yu H.; Pruitt B.L.; Snyder M.P.; Srivastava D.;
Cell 167:1734-1749(2016)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANT ASD2 SER-296;
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.
Garg V.; Kathiriya I.S.; Barnes R.; Schluterman M.K.; King I.N.; Butler C.A.; Rothrock C.R.; Eapen R.S.; Hirayama-Yamada K.; Joo K.; Matsuoka R.; Cohen J.C.; Srivastava D.;
Nature 424:443-447(2003)
Cited for: VARIANT ASD2 SER-296;
Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.
Hirayama-Yamada K.; Kamisago M.; Akimoto K.; Aotsuka H.; Nakamura Y.; Tomita H.; Furutani M.; Imamura S.; Takao A.; Nakazawa M.; Matsuoka R.;
Am. J. Med. Genet. A 135:47-52(2005)
Cited for: VARIANTS ASD2 PHE-52 AND SER-296;
Disclaimer:
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.