UniProtKB/Swiss-Prot Q92908: Variant p.Gly15Arg

Transcription factor GATA-6
Gene: GATA6
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Variant information Variant position:

15 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Glycine (G) to Arginine (R) at position 15 (G15R, p.Gly15Arg). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs116262672 [ dbSNP | Ensembl ]

Sequence information 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:

MALTDGGWCLPKRF G AAGADASDSRAFPAREPSTP 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                         MALTDGGWCLPKRFGAAGADASDSRAFPAREPSTP

Mouse                         MALTDGGWCLPKRFGAAAADAGDSGPFPAREPSSP

Rat                           MALTDGGWCLPKRFGAAAADAGDSGPFPAREPSSP

Chicken                       -----------------------------------

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 – 595	Transcription factor GATA-6
Region	14 – 71	Disordered
Alternative sequence	1 – 146	Missing. In isoform 2.

Literature citations
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;

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.