Variant position: 15 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 595 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 MALTDGGWCLPKRF GAAGADASDSRAFPAREPSTP
Mouse MALTDGGWCLPKRF GAAAADAGDSGPFPAREPSSP
Rat MALTDGGWCLPKRF GAAAADAGDSGPFPAREPSSP
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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 – 595 Transcription factor GATA-6
1 – 146 Missing. In isoform 2.
GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling.
Kodo K.; Nishizawa T.; Furutani M.; Arai S.; Yamamura E.; Joo K.; Takahashi T.; Matsuoka R.; Yamagishi H.;
Proc. Natl. Acad. Sci. U.S.A. 106:13933-13938(2009)
Cited for: FUNCTION; SUBCELLULAR LOCATION; VARIANT CTHM HIS-466; VARIANT ARG-15; CHARACTERIZATION OF VARIANT CTHM HIS-466;
A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.
Lin X.; Huo Z.; Liu X.; Zhang Y.; Li L.; Zhao H.; Yan B.; Liu Y.; Yang Y.; Chen Y.H.;
J. Hum. Genet. 55:662-667(2010)
Cited for: VARIANT ASD9 ASN-184; VARIANT TOF ASN-184; CHARACTERIZATION OF VARIANT ASD9 ASN-184; VARIANT ARG-15;
Identification of GATA6 sequence variants in patients with congenital heart defects.
Maitra M.; Koenig S.N.; Srivastava D.; Garg V.;
Pediatr. Res. 68:281-285(2010)
Cited for: VARIANT ARG-15; VARIANT AVSD5 VAL-178; VARIANT TOF VAL-198; CHARACTERIZATION OF VARIANT AVSD5 VAL-178; CHARACTERIZATION OF VARIANT TOF VAL-198;
GATA6 loss-of-function mutation in atrial fibrillation.
Yang Y.Q.; Li L.; Wang J.; Zhang X.L.; Li R.G.; Xu Y.J.; Tan H.W.; Wang X.H.; Jiang J.Q.; Fang W.Y.; Liu X.;
Eur. J. Med. Genet. 55:520-526(2012)
Cited for: VARIANTS ARG-15 AND SER-235; CHARACTERIZATION OF VARIANT SER-235; FUNCTION;
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