MutationT@ster 2025

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Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000366683
Querying Taster for transcript #2: ENST00000366684
Querying Taster for transcript #3: ENST00000684723
MT speed 0.06 s - this script 2.429663 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length
ENST00000366683	ACTA1	Deleterious	109\|91	without_aae	No	Single base exchange	Normal
ENST00000366684(MANE Select)	ACTA1	Deleterious	114\|86	without_aae	No	Single base exchange	Normal
ENST00000684723	ACTA1	Deleterious	126\|74	without_aae	No	Single base exchange	Normal

MutationT@ster 2025

Variant:

1:229431529G>A_1_ENST00000366683

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Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 109|91 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:229431529G>A (GRCh38)

Gene symbol

ACTA1

Gene constraints

LOEUF: 1.03, LOF (oe): 0.74, misssense (oe): 0.31, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000366683.4

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1026C>T
g.2576C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs755448851
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	13	13

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.941	1
	-0.009	0.913
(flanking)	7.859	1

?

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

No

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CAGGAGTACGACGAGGCCGGCCCTTCCATCGTCCACCGCAA

Altered gDNA sequence snippet

CAGGAGTACGACGAGGCCGGTCCTTCCATCGTCCACCGCAA

Original cDNA sequence snippet

CAGGAGTACGACGAGGCCGGCCCTTCCATCGTCCACCGCAA

Altered cDNA sequence snippet

CAGGAGTACGACGAGGCCGGTCCTTCCATCGTCCACCGCAA

Wildtype AA sequence

MCDEDETTAL VCDNGSGLVK AGFAGDDAPR AVFPSIVGRP RHQGVMVGMG QKDSYVGDEA
QSKRGILTLK YPIEHGIITN WDDMEKIWHH TFYNELRVAP EEHPTLLTEA PLNPKANREK
MTQIMFETFN VPAMYVAIQA VLSLYASGRT TGIVLDSGDG VTHNVPIYEG YALPHAIMRL
DLAGRDLTDY LMKILTERGY SFVTTAEREI VRDIKEKLCY VALDFENEMA TAASSSSLEK
SYELPDGQVI TIGNERFRCP ETLFQPSFIG MESAGIHETT YNSIMKCDID IRKDLYANNV
MSGGTTMYPG IADRMQKEIT ALAPSTMKIK MWITKQEYDE AGPSIVHRKC F*

Mutated AA sequence

MCDEDETTAL VCDNGSGLVK AGFAGDDAPR AVFPSIVGRP RHQGVMVGMG QKDSYVGDEA
QSKRGILTLK YPIEHGIITN WDDMEKIWHH TFYNELRVAP EEHPTLLTEA PLNPKANREK
MTQIMFETFN VPAMYVAIQA VLSLYASGRT TGIVLDSGDG VTHNVPIYEG YALPHAIMRL
DLAGRDLTDY LMKILTERGY SFVTTAEREI VRDIKEKLCY VALDFENEMA TAASSSSLEK
SYELPDGQVI TIGNERFRCP ETLFQPSFIG MESAGIHETT YNSIMKCDID IRKDLYANNV
MSGGTTMYPG IADRMQKEIT ALAPSTMKIK MWITKQEYDE AGPSIVHRKC F*

Position of stopcodon in wt / mu CDS

1056 / 1056

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

352 / 352

Position of stopcodon in wt / mu cDNA

1169 / 1169

Position of start ATG in wt / mu cDNA

114 / 114

Last intron/exon boundary

1103

Theoretical NMD boundary in CDS

939

Length of CDS

1056

Coding sequence (CDS) position

1026

cDNA position

1139

gDNA position

2576

Chromosomal position

229431529

Speed

0.03 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

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MutationT@ster 2025

Variant:

1:229431529G>A_2_ENST00000366684

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Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 114|86 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:229431529G>A (GRCh38)

Gene symbol

ACTA1

Gene constraints

LOEUF: 0.93, LOF (oe): 0.67, misssense (oe): 0.30, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000366684.7

Genbank transcript ID

NM_001100 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1104C>T
g.2576C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs755448851
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	13	13

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.941	1
	-0.009	0.913
(flanking)	7.859	1

?

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

No

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CAGGAGTACGACGAGGCCGGCCCTTCCATCGTCCACCGCAA

Altered gDNA sequence snippet

CAGGAGTACGACGAGGCCGGTCCTTCCATCGTCCACCGCAA

Original cDNA sequence snippet

CAGGAGTACGACGAGGCCGGCCCTTCCATCGTCCACCGCAA

Altered cDNA sequence snippet

CAGGAGTACGACGAGGCCGGTCCTTCCATCGTCCACCGCAA

Wildtype AA sequence

MCDEDETTAL VCDNGSGLVK AGFAGDDAPR AVFPSIVGRP RHQGVMVGMG QKDSYVGDEA
QSKRGILTLK YPIEHGIITN WDDMEKIWHH TFYNELRVAP EEHPTLLTEA PLNPKANREK
MTQIMFETFN VPAMYVAIQA VLSLYASGRT TGIVLDSGDG VTHNVPIYEG YALPHAIMRL
DLAGRDLTDY LMKILTERGY SFVTTAEREI VRDIKEKLCY VALDFENEMA TAASSSSLEK
SYELPDGQVI TIGNERFRCP ETLFQPSFIG MESAGIHETT YNSIMKCDID IRKDLYANNV
MSGGTTMYPG IADRMQKEIT ALAPSTMKIK IIAPPERKYS VWIGGSILAS LSTFQQMWIT
KQEYDEAGPS IVHRKCF*

Mutated AA sequence

MCDEDETTAL VCDNGSGLVK AGFAGDDAPR AVFPSIVGRP RHQGVMVGMG QKDSYVGDEA
QSKRGILTLK YPIEHGIITN WDDMEKIWHH TFYNELRVAP EEHPTLLTEA PLNPKANREK
MTQIMFETFN VPAMYVAIQA VLSLYASGRT TGIVLDSGDG VTHNVPIYEG YALPHAIMRL
DLAGRDLTDY LMKILTERGY SFVTTAEREI VRDIKEKLCY VALDFENEMA TAASSSSLEK
SYELPDGQVI TIGNERFRCP ETLFQPSFIG MESAGIHETT YNSIMKCDID IRKDLYANNV
MSGGTTMYPG IADRMQKEIT ALAPSTMKIK IIAPPERKYS VWIGGSILAS LSTFQQMWIT
KQEYDEAGPS IVHRKCF*

Position of stopcodon in wt / mu CDS

1134 / 1134

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

378 / 378

Position of stopcodon in wt / mu cDNA

1237 / 1237

Position of start ATG in wt / mu cDNA

104 / 104

Last intron/exon boundary

1093

Theoretical NMD boundary in CDS

939

Length of CDS

1134

Coding sequence (CDS) position

1104

cDNA position

1207

gDNA position

2576

Chromosomal position

229431529

Speed

0.02 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:

1:229431529G>A_3_ENST00000684723

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 126|74 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:229431529G>A (GRCh38)

Gene symbol

ACTA1

Gene constraints

LOEUF: 0.90, LOF (oe): 0.62, misssense (oe): 0.30, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000684723.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.969C>T
g.2576C>T

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs755448851
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	13	13

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.941	1
	-0.009	0.913
(flanking)	7.859	1

?

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

No

Chromosome

1

Strand

-1

Original gDNA sequence snippet

CAGGAGTACGACGAGGCCGGCCCTTCCATCGTCCACCGCAA

Altered gDNA sequence snippet

CAGGAGTACGACGAGGCCGGTCCTTCCATCGTCCACCGCAA

Original cDNA sequence snippet

CAGGAGTACGACGAGGCCGGCCCTTCCATCGTCCACCGCAA

Altered cDNA sequence snippet

CAGGAGTACGACGAGGCCGGTCCTTCCATCGTCCACCGCAA

Wildtype AA sequence

MVGMGQKDSY VGDEAQSKRG ILTLKYPIEH GIITNWDDME KIWHHTFYNE LRVAPEEHPT
LLTEAPLNPK ANREKMTQIM FETFNVPAMY VAIQAVLSLY ASGRTTGIVL DSGDGVTHNV
PIYEGYALPH AIMRLDLAGR DLTDYLMKIL TERGYSFVTT AEREIVRDIK EKLCYVALDF
ENEMATAASS SSLEKSYELP DGQVITIGNE RFRCPETLFQ PSFIGMESAG IHETTYNSIM
KCDIDIRKDL YANNVMSGGT TMYPGIADRM QKEITALAPS TMKIKIIAPP ERKYSVWIGG
SILASLSTFQ QMWITKQEYD EAGPSIVHRK CF*

Mutated AA sequence

MVGMGQKDSY VGDEAQSKRG ILTLKYPIEH GIITNWDDME KIWHHTFYNE LRVAPEEHPT
LLTEAPLNPK ANREKMTQIM FETFNVPAMY VAIQAVLSLY ASGRTTGIVL DSGDGVTHNV
PIYEGYALPH AIMRLDLAGR DLTDYLMKIL TERGYSFVTT AEREIVRDIK EKLCYVALDF
ENEMATAASS SSLEKSYELP DGQVITIGNE RFRCPETLFQ PSFIGMESAG IHETTYNSIM
KCDIDIRKDL YANNVMSGGT TMYPGIADRM QKEITALAPS TMKIKIIAPP ERKYSVWIGG
SILASLSTFQ QMWITKQEYD EAGPSIVHRK CF*

Position of stopcodon in wt / mu CDS

999 / 999

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

333 / 333

Position of stopcodon in wt / mu cDNA

1102 / 1102

Position of start ATG in wt / mu cDNA

104 / 104

Last intron/exon boundary

958

Theoretical NMD boundary in CDS

804

Length of CDS

999

Coding sequence (CDS) position

969

cDNA position

1072

gDNA position

2576

Chromosomal position

229431529

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