MutationT@ster 2025

NEVER press reload or F5 - unless you want to start from the very beginning.
Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000532059
Querying Taster for transcript #2: ENST00000335135
Querying Taster for transcript #3: ENST00000622443
Querying Taster for transcript #4: ENST00000528712
MT speed 0.2 s - this script 2.631248 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000528712	GATA4	Benign	1\|199	without_aae	No	Single base exchange	N/A
ENST00000532059(MANE Select)	GATA4	Benign	29\|71	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000335135	GATA4	Benign	43\|57	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000622443	GATA4	Benign	43\|57	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

8:11708535G>T_4_ENST00000528712

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 1|199 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:11708535G>T (GRCh38)

Gene symbol

GATA4

Gene constraints

LOEUF: 0.50, LOF (oe): 0.25, misssense (oe): 0.81, synonymous (oe): 1.29 ? (gnomAD)

Ensembl transcript ID

ENST00000528712.5

Genbank transcript ID

NM_001308094 (by similarity), NM_001374274 (by similarity), NM_001374273 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-6+7757G>T
g.31577G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs556967140
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	4	192	196

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.263	0.889
	0.809	0.859
(flanking)	1.319	0.79

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

8

Strand

1

Original gDNA sequence snippet

GCGGCAGCTCCGGTGGGGCCGCGTCTGGTGCGGGGCCCGGG

Altered gDNA sequence snippet

GCGGCAGCTCCGGTGGGGCCTCGTCTGGTGCGGGGCCCGGG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MFDDFSEGRE CVNCGAMSTP LWRRDGTGHY LCNACGLYHK MNGINRPLIK PQRRLSASRR
VGLSCANCQT TTTTLWRRNA EGEPVCNACG LYMKLHGVPR PLAMRKEGIQ TRKRKPKNLN
KSKTPAAPSG SESLPPASGA SSNSSNATTS SSEEMRPIKT EPGLSSHYGH SSSVSQTFSV
SAMSGHGPSI HPVLSALKLS PQGYASPVSQ SPQTSSKQDS WNSLVLADSH GDIITA*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

379 / 379

Last intron/exon boundary

906

Theoretical NMD boundary in CDS

477

Length of CDS

711

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

31577

Chromosomal position

11708535

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

8:11708535G>T_1_ENST00000532059

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 29|71 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:11708535G>T (GRCh38)

Gene symbol

GATA4

Gene constraints

LOEUF: 0.47, LOF (oe): 0.25, misssense (oe): 1.17, synonymous (oe): 1.51 ? (gnomAD)

Ensembl transcript ID

ENST00000532059.6

Genbank transcript ID

NM_001308093 (exact from MANE)

UniProt / AlphaMissense peptide

GATA4_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.223G>T
g.31577G>T

AA changes

AAE:	A75S	?
Score:	99

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs556967140
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	4	192	196

Protein conservation

Species	Match	AA	Alignment
Human		75	G	G	A	S	G	G	S	S	G	G	A	A	S	G	A	G	P	G	T	Q	Q	G	S	P
mutated	all conserved	75	G	G	A	S	G	G	S	S	G	G	A	S	S	G	A	G	P	G	T	Q	Q	G	S
Ptroglodytes	all identical	75	G	G	A	S	G	G	S	S	G	G	A	A	S	G	A	G	P	G	T	Q	Q	G	S
Mmulatta	all identical	75	G	G	A	A	G	S	S	S	G	A	A	A	S	G	A	G	P	G	T	Q	Q	G	S
Fcatus	not conserved	75	G	A	T	S	G	G	S	S	G	G	A	P	A	G	A	G	P	G	T	Q	Q	S	S
Mmusculus	not conserved	75	G	T	T	S	G	G	S	S	G	A	G	P	S	G	A	G	P	G	T	Q	Q	G	S
Ggallus	not conserved	70	S	P	V	S	S	H	S	I	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
Trubripes	not conserved	69	S	P	V	S	S	H	S	A	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
Drerio	no homologue
Dmelanogaster	not conserved	383											S	V	P	G	T	G	Q	F	L	A	K	S	E
Celegans	no homologue
Xtropicalis	not conserved	71	S	P	V	S	G	H	N	M	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-

Protein features

Start (aa)	End (aa)	Feature	Details
1	442	CHAIN		lost
60	107	REGION		lost
64	90	COMPBIAS	Polar residues	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.263	0.889
	0.809	0.859
(flanking)	1.319	0.79

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

8

Strand

1

Original gDNA sequence snippet

GCGGCAGCTCCGGTGGGGCCGCGTCTGGTGCGGGGCCCGGG

Altered gDNA sequence snippet

GCGGCAGCTCCGGTGGGGCCTCGTCTGGTGCGGGGCCCGGG

Original cDNA sequence snippet

GCGGCAGCTCCGGTGGGGCCGCGTCTGGTGCGGGGCCCGGG

Altered cDNA sequence snippet

GCGGCAGCTCCGGTGGGGCCTCGTCTGGTGCGGGGCCCGGG

Wildtype AA sequence

MYQSLAMAAN HGPPPGAYEA GGPGAFMHGA GAASSPVYVP TPRVPSSVLG LSYLQGGGAG
SASGGASGGS SGGAASGAGP GTQQGSPGWS QAGADGAAYT PPPVSPRFSF PGTTGSLAAA
AAAAAAREAA AYSSGGGAAG AGLAGREQYG RAGFAGSYSS PYPAYMADVG ASWAAAAAAS
AGPFDSPVLH SLPGRANPAA RHPNLVDMFD DFSEGRECVN CGAMSTPLWR RDGTGHYLCN
ACGLYHKMNG INRPLIKPQR RLSASRRVGL SCANCQTTTT TLWRRNAEGE PVCNACGLYM
KLHGVPRPLA MRKEGIQTRK RKPKNLNKSK TPAAPSGSES LPPASGASSN SSNATTSSSE
EMRPIKTEPG LSSHYGHSSS VSQTFSVSAM SGHGPSIHPV LSALKLSPQG YASPVSQSPQ
TSSKQDSWNS LVLADSHGDI ITA*

Mutated AA sequence

MYQSLAMAAN HGPPPGAYEA GGPGAFMHGA GAASSPVYVP TPRVPSSVLG LSYLQGGGAG
SASGGASGGS SGGASSGAGP GTQQGSPGWS QAGADGAAYT PPPVSPRFSF PGTTGSLAAA
AAAAAAREAA AYSSGGGAAG AGLAGREQYG RAGFAGSYSS PYPAYMADVG ASWAAAAAAS
AGPFDSPVLH SLPGRANPAA RHPNLVDMFD DFSEGRECVN CGAMSTPLWR RDGTGHYLCN
ACGLYHKMNG INRPLIKPQR RLSASRRVGL SCANCQTTTT TLWRRNAEGE PVCNACGLYM
KLHGVPRPLA MRKEGIQTRK RKPKNLNKSK TPAAPSGSES LPPASGASSN SSNATTSSSE
EMRPIKTEPG LSSHYGHSSS VSQTFSVSAM SGHGPSIHPV LSALKLSPQG YASPVSQSPQ
TSSKQDSWNS LVLADSHGDI ITA*

Position of stopcodon in wt / mu CDS

1332 / 1332

Position (AA) of stopcodon in wt / mu AA sequence

444 / 444

Position of stopcodon in wt / mu cDNA

1892 / 1892

Position of start ATG in wt / mu cDNA

561 / 561

Last intron/exon boundary

1709

Theoretical NMD boundary in CDS

1098

Length of CDS

1332

Coding sequence (CDS) position

223

cDNA position

783

gDNA position

31577

Chromosomal position

11708535

Speed

0.07 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

8:11708535G>T_2_ENST00000335135

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 43|57 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:11708535G>T (GRCh38)

Gene symbol

GATA4

Gene constraints

LOEUF: 0.52, LOF (oe): 0.29, misssense (oe): 1.17, synonymous (oe): 1.51 ? (gnomAD)

Ensembl transcript ID

ENST00000335135.8

Genbank transcript ID

NM_002052 (by similarity)

UniProt / AlphaMissense peptide

GATA4_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.223G>T
g.31577G>T

AA changes

AAE:	A75S	?
Score:	99

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs556967140
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	4	192	196

Protein conservation

Species	Match	AA	Alignment
Human		75	G	G	A	S	G	G	S	S	G	G	A	A	S	G	A	G	P	G	T	Q	Q	G	S	P
mutated	all conserved	75	G	G	A	S	G	G	S	S	G	G	A	S	S	G	A	G	P	G	T	Q	Q	G	S
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	442	CHAIN		lost
60	107	REGION		lost
64	90	COMPBIAS	Polar residues	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.263	0.889
	0.809	0.859
(flanking)	1.319	0.79

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

8

Strand

1

Original gDNA sequence snippet

GCGGCAGCTCCGGTGGGGCCGCGTCTGGTGCGGGGCCCGGG

Altered gDNA sequence snippet

GCGGCAGCTCCGGTGGGGCCTCGTCTGGTGCGGGGCCCGGG

Original cDNA sequence snippet

GCGGCAGCTCCGGTGGGGCCGCGTCTGGTGCGGGGCCCGGG

Altered cDNA sequence snippet

GCGGCAGCTCCGGTGGGGCCTCGTCTGGTGCGGGGCCCGGG

Wildtype AA sequence

MYQSLAMAAN HGPPPGAYEA GGPGAFMHGA GAASSPVYVP TPRVPSSVLG LSYLQGGGAG
SASGGASGGS SGGAASGAGP GTQQGSPGWS QAGADGAAYT PPPVSPRFSF PGTTGSLAAA
AAAAAAREAA AYSSGGGAAG AGLAGREQYG RAGFAGSYSS PYPAYMADVG ASWAAAAAAS
AGPFDSPVLH SLPGRANPAA RHPNLDMFDD FSEGRECVNC GAMSTPLWRR DGTGHYLCNA
CGLYHKMNGI NRPLIKPQRR LSASRRVGLS CANCQTTTTT LWRRNAEGEP VCNACGLYMK
LHGVPRPLAM RKEGIQTRKR KPKNLNKSKT PAAPSGSESL PPASGASSNS SNATTSSSEE
MRPIKTEPGL SSHYGHSSSV SQTFSVSAMS GHGPSIHPVL SALKLSPQGY ASPVSQSPQT
SSKQDSWNSL VLADSHGDII TA*

Mutated AA sequence

MYQSLAMAAN HGPPPGAYEA GGPGAFMHGA GAASSPVYVP TPRVPSSVLG LSYLQGGGAG
SASGGASGGS SGGASSGAGP GTQQGSPGWS QAGADGAAYT PPPVSPRFSF PGTTGSLAAA
AAAAAAREAA AYSSGGGAAG AGLAGREQYG RAGFAGSYSS PYPAYMADVG ASWAAAAAAS
AGPFDSPVLH SLPGRANPAA RHPNLDMFDD FSEGRECVNC GAMSTPLWRR DGTGHYLCNA
CGLYHKMNGI NRPLIKPQRR LSASRRVGLS CANCQTTTTT LWRRNAEGEP VCNACGLYMK
LHGVPRPLAM RKEGIQTRKR KPKNLNKSKT PAAPSGSESL PPASGASSNS SNATTSSSEE
MRPIKTEPGL SSHYGHSSSV SQTFSVSAMS GHGPSIHPVL SALKLSPQGY ASPVSQSPQT
SSKQDSWNSL VLADSHGDII TA*

Position of stopcodon in wt / mu CDS

1329 / 1329

Position (AA) of stopcodon in wt / mu AA sequence

443 / 443

Position of stopcodon in wt / mu cDNA

1887 / 1887

Position of start ATG in wt / mu cDNA

559 / 559

Last intron/exon boundary

1704

Theoretical NMD boundary in CDS

1095

Length of CDS

1329

Coding sequence (CDS) position

223

cDNA position

781

gDNA position

31577

Chromosomal position

11708535

Speed

0.06 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

8:11708535G>T_3_ENST00000622443

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 43|57 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr8:11708535G>T (GRCh38)

Gene symbol

GATA4

Gene constraints

LOEUF: 0.52, LOF (oe): 0.29, misssense (oe): 1.17, synonymous (oe): 1.51 ? (gnomAD)

Ensembl transcript ID

ENST00000622443.3

Genbank transcript ID

UniProt / AlphaMissense peptide

GATA4_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.223G>T
g.31577G>T

AA changes

AAE:	A75S	?
Score:	99

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs556967140
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	4	192	196

Protein conservation

Species	Match	AA	Alignment
Human		75	G	G	A	S	G	G	S	S	G	G	A	A	S	G	A	G	P	G	T	Q	Q	G	S	P
mutated	all conserved	75	G	G	A	S	G	G	S	S	G	G	A	S	S	G	A	G	P	G	T	Q	Q	G	S
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	442	CHAIN		lost
60	107	REGION		lost
64	90	COMPBIAS	Polar residues	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.263	0.889
	0.809	0.859
(flanking)	1.319	0.79

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

8

Strand

1

Original gDNA sequence snippet

GCGGCAGCTCCGGTGGGGCCGCGTCTGGTGCGGGGCCCGGG

Altered gDNA sequence snippet

GCGGCAGCTCCGGTGGGGCCTCGTCTGGTGCGGGGCCCGGG

Original cDNA sequence snippet

GCGGCAGCTCCGGTGGGGCCGCGTCTGGTGCGGGGCCCGGG

Altered cDNA sequence snippet

GCGGCAGCTCCGGTGGGGCCTCGTCTGGTGCGGGGCCCGGG

Wildtype AA sequence

MYQSLAMAAN HGPPPGAYEA GGPGAFMHGA GAASSPVYVP TPRVPSSVLG LSYLQGGGAG
SASGGASGGS SGGAASGAGP GTQQGSPGWS QAGADGAAYT PPPVSPRFSF PGTTGSLAAA
AAAAAAREAA AYSSGGGAAG AGLAGREQYG RAGFAGSYSS PYPAYMADVG ASWAAAAAAS
AGPFDSPVLH SLPGRANPAA RHPNLDMFDD FSEGRECVNC GAMSTPLWRR DGTGHYLCNA
CGLYHKMNGI NRPLIKPQRR LSASRRVGLS CANCQTTTTT LWRRNAEGEP VCNACGLYMK
LHGVPRPLAM RKEGIQTRKR KPKNLNKSKT PAAPSGSESL PPASGASSNS SNATTSSSEE
MRPIKTEPGL SSHYGHSSSV SQTFSVSAMS GHGPSIHPVL SALKLSPQGY ASPVSQSPQT
SSKQDSWNSL VLADSHGDII TA*

Mutated AA sequence

MYQSLAMAAN HGPPPGAYEA GGPGAFMHGA GAASSPVYVP TPRVPSSVLG LSYLQGGGAG
SASGGASGGS SGGASSGAGP GTQQGSPGWS QAGADGAAYT PPPVSPRFSF PGTTGSLAAA
AAAAAAREAA AYSSGGGAAG AGLAGREQYG RAGFAGSYSS PYPAYMADVG ASWAAAAAAS
AGPFDSPVLH SLPGRANPAA RHPNLDMFDD FSEGRECVNC GAMSTPLWRR DGTGHYLCNA
CGLYHKMNGI NRPLIKPQRR LSASRRVGLS CANCQTTTTT LWRRNAEGEP VCNACGLYMK
LHGVPRPLAM RKEGIQTRKR KPKNLNKSKT PAAPSGSESL PPASGASSNS SNATTSSSEE
MRPIKTEPGL SSHYGHSSSV SQTFSVSAMS GHGPSIHPVL SALKLSPQGY ASPVSQSPQT
SSKQDSWNSL VLADSHGDII TA*

Position of stopcodon in wt / mu CDS

1329 / 1329

Position (AA) of stopcodon in wt / mu AA sequence

443 / 443

Position of stopcodon in wt / mu cDNA

1989 / 1989

Position of start ATG in wt / mu cDNA

661 / 661

Last intron/exon boundary

1806

Theoretical NMD boundary in CDS

1095

Length of CDS

1329

Coding sequence (CDS) position

223

cDNA position

883

gDNA position

31577

Chromosomal position

11708535

Speed

0.06 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table