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: ENST00000409731
Querying Taster for transcript #2: ENST00000345517
Querying Taster for transcript #3: ENST00000409624
MT speed 0.13 s - this script 2.587964 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Known ClinVar disease mutation	Variant type	Protein length	Features at a glance
ENST00000409731	ACTG2	Deleterious	99\|1	simple_aae	No	Yes	Single base exchange	Normal	Amino acid sequence changed Known disease mutation: ClinVar ID 132801 (pathogenic) Protein features (might be) affected
ENST00000345517(MANE Select)	ACTG2	Deleterious	99\|1	simple_aae	No	Yes	Single base exchange	Normal	Amino acid sequence changed Known disease mutation: ClinVar ID 132801 (pathogenic) Protein features (might be) affected
ENST00000409624	ACTG2	Deleterious	99\|1	simple_aae	No	Yes	Single base exchange	Normal	Amino acid sequence changed Known disease mutation: ClinVar ID 132801 (pathogenic) Protein features (might be) affected

MutationT@ster 2025

Variant:

2:73913566G>A_1_ENST00000409731

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 132801 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 99|1 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr2:73913566G>A (GRCh38)

Gene symbol

ACTG2

Gene constraints

LOEUF: 0.64, LOF (oe): 0.40, misssense (oe): 0.48, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000409731.7

Genbank transcript ID

NM_001199893 (by similarity)

UniProt / AlphaMissense peptide

ACTH_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.404G>A
g.21253G>A

AA changes

AAE:	R135H	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
Inborn genetic diseases
Visceral myopathy 1

pathogenic

ClinVar OMIM

Variant DBs

	Not in dbSNP
	Allele 'A' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		135	Y	E	G	Y	A	L	P	H	A	I	M	R	L	D	L	A	G	R	D	L	T	D	Y	L
mutated	not conserved	135	Y	E	G	Y	A	L	P	H	A	I	M	H	L	D	L	A	G	R	D	L	T	D	Y
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
2	376	CHAIN		lost
3	376	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.905	1
	10.003	1
(flanking)	0.192	0.984

?

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

2

Strand

1

Original gDNA sequence snippet

CCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTG

Altered gDNA sequence snippet

CCTGCCCCATGCCATCATGCACCTGGACTTGGCTGGCCGTG

Original cDNA sequence snippet

CCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTG

Altered cDNA sequence snippet

CCTGCCCCATGCCATCATGCACCTGGACTTGGCTGGCCGTG

Wildtype AA sequence

MCEEETTALV CDNGSGLCKA GFAGDDAPRA VFPSIVGRPR HQIWHHSFYN ELRVAPEEHP
TLLTEAPLNP KANREKMTQI MFETFNVPAM YVAIQAVLSL YASGRTTGIV LDSGDGVTHN
VPIYEGYALP HAIMRLDLAG RDLTDYLMKI LTERGYSFVT TAEREIVRDI KEKLCYVALD
FENEMATAAS SSSLEKSYEL PDGQVITIGN ERFRCPETLF QPSFIGMESA GIHETTYNSI
MKCDIDIRKD LYANNVLSGG TTMYPGIADR MQKEITALAP STMKIKIIAP PERKYSVWIG
GSILASLSTF QQMWISKPEY DEAGPSIVHR KCF*

Mutated AA sequence

MCEEETTALV CDNGSGLCKA GFAGDDAPRA VFPSIVGRPR HQIWHHSFYN ELRVAPEEHP
TLLTEAPLNP KANREKMTQI MFETFNVPAM YVAIQAVLSL YASGRTTGIV LDSGDGVTHN
VPIYEGYALP HAIMHLDLAG RDLTDYLMKI LTERGYSFVT TAEREIVRDI KEKLCYVALD
FENEMATAAS SSSLEKSYEL PDGQVITIGN ERFRCPETLF QPSFIGMESA GIHETTYNSI
MKCDIDIRKD LYANNVLSGG TTMYPGIADR MQKEITALAP STMKIKIIAP PERKYSVWIG
GSILASLSTF QQMWISKPEY DEAGPSIVHR KCF*

Position of stopcodon in wt / mu CDS

1002 / 1002

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

334 / 334

Position of stopcodon in wt / mu cDNA

1123 / 1123

Position of start ATG in wt / mu cDNA

122 / 122

Last intron/exon boundary

979

Theoretical NMD boundary in CDS

807

Length of CDS

1002

Coding sequence (CDS) position

404

cDNA position

525

gDNA position

21253

Chromosomal position

73913566

Speed

0.05 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:

2:73913566G>A_2_ENST00000345517

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 132801 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 99|1 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr2:73913566G>A (GRCh38)

Gene symbol

ACTG2

Gene constraints

LOEUF: 0.63, LOF (oe): 0.41, misssense (oe): 0.47, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000345517.8

Genbank transcript ID

NM_001615 (exact from MANE)

UniProt / AlphaMissense peptide

ACTH_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.533G>A
g.21253G>A

AA changes

AAE:	R178H	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
Inborn genetic diseases
Visceral myopathy 1

pathogenic

ClinVar OMIM

Variant DBs

	Not in dbSNP
	Allele 'A' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		178	Y	E	G	Y	A	L	P	H	A	I	M	R	L	D	L	A	G	R	D	L	T	D	Y	L
mutated	not conserved	178	Y	E	G	Y	A	L	P	H	A	I	M	H	L	D
Ptroglodytes	all identical	178	Y	E	G	Y	A	L	P	H	A	I	M	R	L	D
Mmulatta	all identical	178	Y	E	G	Y	A	L	P	H	A	I	M	R	L	D
Fcatus	all identical	178	Y	E	G	Y	A	L	P	H	A	I	M	R	L	D
Mmusculus	all identical	178	Y	E	G	Y	A	L	P	H	A	I	M	R	L	D
Ggallus	no homologue
Trubripes	all identical	216	Y	E	G	Y	A	L	P	H	A	I	M	R	L	D	L	A	G	R	D	L	T	D	Y
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
2	376	CHAIN		lost
3	376	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.905	1
	10.003	1
(flanking)	0.192	0.984

?

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

2

Strand

1

Original gDNA sequence snippet

CCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTG

Altered gDNA sequence snippet

CCTGCCCCATGCCATCATGCACCTGGACTTGGCTGGCCGTG

Original cDNA sequence snippet

CCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTG

Altered cDNA sequence snippet

CCTGCCCCATGCCATCATGCACCTGGACTTGGCTGGCCGTG

Wildtype AA sequence

MCEEETTALV CDNGSGLCKA GFAGDDAPRA VFPSIVGRPR HQGVMVGMGQ KDSYVGDEAQ
SKRGILTLKY PIEHGIITNW DDMEKIWHHS FYNELRVAPE EHPTLLTEAP LNPKANREKM
TQIMFETFNV PAMYVAIQAV LSLYASGRTT GIVLDSGDGV THNVPIYEGY ALPHAIMRLD
LAGRDLTDYL MKILTERGYS FVTTAEREIV RDIKEKLCYV ALDFENEMAT AASSSSLEKS
YELPDGQVIT IGNERFRCPE TLFQPSFIGM ESAGIHETTY NSIMKCDIDI RKDLYANNVL
SGGTTMYPGI ADRMQKEITA LAPSTMKIKI IAPPERKYSV WIGGSILASL STFQQMWISK
PEYDEAGPSI VHRKCF*

Mutated AA sequence

MCEEETTALV CDNGSGLCKA GFAGDDAPRA VFPSIVGRPR HQGVMVGMGQ KDSYVGDEAQ
SKRGILTLKY PIEHGIITNW DDMEKIWHHS FYNELRVAPE EHPTLLTEAP LNPKANREKM
TQIMFETFNV PAMYVAIQAV LSLYASGRTT GIVLDSGDGV THNVPIYEGY ALPHAIMHLD
LAGRDLTDYL MKILTERGYS FVTTAEREIV RDIKEKLCYV ALDFENEMAT AASSSSLEKS
YELPDGQVIT IGNERFRCPE TLFQPSFIGM ESAGIHETTY NSIMKCDIDI RKDLYANNVL
SGGTTMYPGI ADRMQKEITA LAPSTMKIKI IAPPERKYSV WIGGSILASL STFQQMWISK
PEYDEAGPSI VHRKCF*

Position of stopcodon in wt / mu CDS

1131 / 1131

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

377 / 377

Position of stopcodon in wt / mu cDNA

1211 / 1211

Position of start ATG in wt / mu cDNA

81 / 81

Last intron/exon boundary

1067

Theoretical NMD boundary in CDS

936

Length of CDS

1131

Coding sequence (CDS) position

533

cDNA position

613

gDNA position

21253

Chromosomal position

73913566

Speed

0.04 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:

2:73913566G>A_3_ENST00000409624

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 132801 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 99|1 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr2:73913566G>A (GRCh38)

Gene symbol

ACTG2

Gene constraints

LOEUF: 0.63, LOF (oe): 0.41, misssense (oe): 0.47, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000409624.1

Genbank transcript ID

UniProt / AlphaMissense peptide

ACTH_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.533G>A
g.21253G>A

AA changes

AAE:	R178H	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
Inborn genetic diseases
Visceral myopathy 1

pathogenic

ClinVar OMIM

Variant DBs

	Not in dbSNP
	Allele 'A' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		178	Y	E	G	Y	A	L	P	H	A	I	M	R	L	D	L	A	G	R	D	L	T	D	Y	L
mutated	not conserved	178	Y	E	G	Y	A	L	P	H	A	I	M	H	L	D
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
2	376	CHAIN		lost
3	376	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.905	1
	10.003	1
(flanking)	0.192	0.984

?

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

2

Strand

1

Original gDNA sequence snippet

CCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTG

Altered gDNA sequence snippet

CCTGCCCCATGCCATCATGCACCTGGACTTGGCTGGCCGTG

Original cDNA sequence snippet

CCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTG

Altered cDNA sequence snippet

CCTGCCCCATGCCATCATGCACCTGGACTTGGCTGGCCGTG

Wildtype AA sequence

MCEEETTALV CDNGSGLCKA GFAGDDAPRA VFPSIVGRPR HQGVMVGMGQ KDSYVGDEAQ
SKRGILTLKY PIEHGIITNW DDMEKIWHHS FYNELRVAPE EHPTLLTEAP LNPKANREKM
TQIMFETFNV PAMYVAIQAV LSLYASGRTT GIVLDSGDGV THNVPIYEGY ALPHAIMRLD
LAGRDLTDYL MKILTERGYS FVTTAEREIV RDIKEKLCYV ALDFENEMAT AASSSSLEKS
YELPDGQVIT IGNERFRCPE TLFQPSFIGM ESAGIHETTY NSIMKCDIDI RKDLYANNVL
SGGTTMYPGI ADRMQKEITA LAPSTMKIKI IAPPERKYSV WIGGSILASL STFQQMWISK
PEYDEAGPSI VHRKCF*

Mutated AA sequence

MCEEETTALV CDNGSGLCKA GFAGDDAPRA VFPSIVGRPR HQGVMVGMGQ KDSYVGDEAQ
SKRGILTLKY PIEHGIITNW DDMEKIWHHS FYNELRVAPE EHPTLLTEAP LNPKANREKM
TQIMFETFNV PAMYVAIQAV LSLYASGRTT GIVLDSGDGV THNVPIYEGY ALPHAIMHLD
LAGRDLTDYL MKILTERGYS FVTTAEREIV RDIKEKLCYV ALDFENEMAT AASSSSLEKS
YELPDGQVIT IGNERFRCPE TLFQPSFIGM ESAGIHETTY NSIMKCDIDI RKDLYANNVL
SGGTTMYPGI ADRMQKEITA LAPSTMKIKI IAPPERKYSV WIGGSILASL STFQQMWISK
PEYDEAGPSI VHRKCF*

Position of stopcodon in wt / mu CDS

1131 / 1131

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

377 / 377

Position of stopcodon in wt / mu cDNA

1774 / 1774

Position of start ATG in wt / mu cDNA

644 / 644

Last intron/exon boundary

1630

Theoretical NMD boundary in CDS

936

Length of CDS

1131

Coding sequence (CDS) position

533

cDNA position

1176

gDNA position

21253

Chromosomal position

73913566

Speed

0.04 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