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: ENST00000399249
Querying Taster for transcript #2: ENST00000545968
MT speed 0.17 s - this script 2.75696 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Prediction problem	Splice site change	Known ClinVar disease mutation	Potential ClinVar disease mutation	Amino acid changes	Variant type	dbSNP ID	Protein length	Features at a glance
ENST00000399249	MYBPC3	Deleterious	10\|0	complex_aae		No	Yes		E258*	Single base exchange		NMD	Amino acid sequence changed Known disease mutation: ClinVar ID 3020531 (pathogenic) NMD
ENST00000545968(MANE Select)	MYBPC3	Deleterious	10\|0	complex_aae		No	Yes		E258*	Single base exchange		NMD	Amino acid sequence changed Known disease mutation: ClinVar ID 3020531 (pathogenic) NMD Protein features (might be) affected

MutationT@ster 2025

Variant:

11:47348424C>A_1_ENST00000399249

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 3020531 (pathogenic)
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr11:47348424C>A (GRCh38)

Gene symbol

MYBPC3

Gene constraints

LOEUF: 0.92, LOF (oe): 0.79, misssense (oe): 0.99, synonymous (oe): 1.12 ? (gnomAD)

Ensembl transcript ID

ENST00000399249.6

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.772G>T
g.4279G>T

AA changes

E258* Score: 6.0?

Frameshift

No

Length of protein

NMD

Pathogenic variant (ClinVar)

Hypertrophic cardiomyopathy

pathogenic

ClinVar

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		258	F	D	C	S	N	F	N	L	T	V	H	E	A	M	G	T	G	D	L	D	L	L	S	A
mutated	no alignment	n/a
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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.861	1
	7.861	1
(flanking)	-2.46	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

1

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

11

Strand

-1

Original gDNA sequence snippet

ACTTCAATCTCACTGTCCACGGTGAGGGGGCCCTGGTGTCT

Altered gDNA sequence snippet

ACTTCAATCTCACTGTCCACTGTGAGGGGGCCCTGGTGTCT

Original cDNA sequence snippet

ACTTCAATCTCACTGTCCACGAGGCCATGGGCACCGGAGAC

Altered cDNA sequence snippet

ACTTCAATCTCACTGTCCACTAGGCCATGGGCACCGGAGAC

Wildtype AA sequence

MPEPGKKPVS AFSKKPRSVE VAAGSPAVFE AETERAGVKV RWQRGGSDIS ASNKYGLATE
GTRHTLTVRE VGPADQGSYA VIAGSSKVKF DLKVIEAEKA EPMLAPAPAP AEATGAPGEA
PAPAAELGES APSPKGSSSA ALNGPTPGAP DDPIGLFVMR PQDGEVTVGG SITFSARVAG
ASLLKPPVVK WFKGKWVDLS SKVGQHLQLH DSYDRASKVY LFELHITDAQ PAFTGSYRCE
VSTKDKFDCS NFNLTVHEAM GTGDLDLLSA FRRTSLAGGG RRISDSHEDT GILDFSSLLK
KSSSFRTPRD SKLEAPAEED VWEILRQAPP SEYERIAFQY GVTDLRGMLK RLKGMRRDEK
KSTAFQKKLE PAYQVSKGHK IRLTVELADH DAEVKWLKNG QEIQMSGSKY IFESIGAKRT
LTISQCSLAD DAAYQCVVGG EKCSTELFVK EPPVLITRPL EDQLVMVGQR VEFECEVSEE
GAQVKWLKDG VELTREETFK YRFKKDGQRH HLIINEAMLE DAGHYALCTS GGQALAELIV
QEKKLEVYQS IADLMVGAKD QAVFKCEVSD ENVRGVWLKN GKELVPDSRI KVSHIGRVHK
LTIDDVTPAD EADYSFVPEG FACNLSAKLH FMEVKIDFVP RQEPPKIHLD CPGRIPDTIV
VVAGNKLRLD VPISGDPAPT VIWQKAITQG NKAPARPAPD APEDTGDSDE WVFDKKLLCE
TEGRVRVETT KDRSIFTVEG AEKEDEGVYT VTVKNPVGED QVNLTVKVID VPDAPAAPKI
SNVGEDSCTV QWEPPAYDGG QPILGYILER KKKKSYRWMR LNFDLIQELS HEARRMIEGV
VYEMRVYAVN AIGMSRPSPA SQPFMPIGPP SEPTHLAVED VSDTTVSLKW RPPERVGAGG
LDGYSVEYCP EGCSEWVAAL QGLTEHTSIL VKDLPTGARL LFRVRAHNMA GPGAPVTTTE
PVTVQEILQR PRLQLPRHLR QTIQKKVGEP VNLLIPFQGK PRPQVTWTKE GQPLAGEEVS
IRNSPTDTIL FIRAARRVHS GTYQVTVRIE NMEDKATLVL QVVDKPSPPQ DLRVTDAWGL
NVALEWKPPQ DVGNTELWGY TVQKADKKTM EWFTVLEHYR RTHCVVPELI IGNGYYFRVF
SQNMVGFSDR AATTKEPVFI PRPGITYEPP NYKALDFSEA PSFTQPLVNR SVIAGYTAML
CCAVRGSPKP KISWFKNGLD LGEDARFRMF SKQGVLTLEI RKPCPFDGGI YVCRATNLQG
EARCECRLEV RVPQ*

Mutated AA sequence

MPEPGKKPVS AFSKKPRSVE VAAGSPAVFE AETERAGVKV RWQRGGSDIS ASNKYGLATE
GTRHTLTVRE VGPADQGSYA VIAGSSKVKF DLKVIEAEKA EPMLAPAPAP AEATGAPGEA
PAPAAELGES APSPKGSSSA ALNGPTPGAP DDPIGLFVMR PQDGEVTVGG SITFSARVAG
ASLLKPPVVK WFKGKWVDLS SKVGQHLQLH DSYDRASKVY LFELHITDAQ PAFTGSYRCE
VSTKDKFDCS NFNLTVH*

Position of stopcodon in wt / mu CDS

3825 / 774

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

1275 / 258

Position of stopcodon in wt / mu cDNA

3880 / 829

Position of start ATG in wt / mu cDNA

56 / 56

Last intron/exon boundary

3906

Theoretical NMD boundary in CDS

3800

Length of CDS

3825

Coding sequence (CDS) position

772

cDNA position

827

gDNA position

4279

Chromosomal position

47348424

Speed

0.08 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:

11:47348424C>A_2_ENST00000545968

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 3020531 (pathogenic)
NMD
Protein features (might be) affected

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr11:47348424C>A (GRCh38)

Gene symbol

MYBPC3

Gene constraints

LOEUF: 0.92, LOF (oe): 0.78, misssense (oe): 0.99, synonymous (oe): 1.12 ? (gnomAD)

Ensembl transcript ID

ENST00000545968.6

Genbank transcript ID

NM_000256 (exact from MANE)

UniProt / AlphaMissense peptide

MYPC3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.772G>T
g.4279G>T

AA changes

E258* Score: 6.0?

Frameshift

No

Length of protein

NMD

Pathogenic variant (ClinVar)

Hypertrophic cardiomyopathy

pathogenic

ClinVar

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		258	F	D	C	S	N	F	N	L	T	V	H	E	A	M	G	T	G	D	L	D	L	L	S	A	F	R	R	T	S	L	A	G	G	G	R	R	I	S	D	S	H	E	D	T	G	I	L	D	F	S	S	L	L	K	K	R	D	S	F	R	T	P	R	D	S	K	L	E	A	P	A	E	E	D	V	W	E	I	L	R	Q	A	P	P	S	E	Y	E	R	I	A	F	Q	Y	G	V	T	D	L	R	G	M	L	K	R	L	K	G	M	R	R	D	E	K	K	S	T	A	F	Q	K	K	L	E	P	A
mutated	no alignment	n/a
Ptroglodytes	all identical	258	F	D	C	S	N	F	N	L	T	V	H	E	A	M	G	T	G	D	L	D	L	L	S	A	F	R	R	T	S	L	A	G	G	G	R	R	I	S	D	S	H	E	D	T	G	I	L	D	F	S	S	L	L	K	K	R	D	S	F	R	T	P	R	D	S	K	L	E	A	P	A	E	E	D	V	W	E	I	L	R	Q	A	P	P	S	E	Y	E	R	I	A	F	Q	Y	G	V	T	D	L	R	G	M	L	K	R	L	K	G	M	R	R	D	E	K
Mmulatta	partly conserved	258	F	D	C	S	N	F	N	L	T	V	H	E	A	V	G	T	G	D	L	D	L	L	S	S	F	R	R	T	S	L	A	G	G	G	R	R	I	S	D	S	H	E	D	A	G	I	L	D	F	S	S	L	L	K	K	R	D	S	F	R	T	P	R	D	S	K	L	E	A	P	A	E	E	D	V	W	E	I	L	R	Q	A	P	P	S	E	Y	E	R	I	A	F	Q	Y	G	V	T	D	L	R	G	M	L	K	R	L	K	G	M	R	R	D	E	K
Fcatus	partly conserved	256	F	D	S	C	N	F	S	L	T	V	H	E	A	V	G	P	G	D	L	D	L	R	S	A	F	R	R	T	S	L	A	G	S	G	R	R	I	S	D	S	H	E	D	A	G	T	L	D	F	S	S	L	L	K	K	S	S	S	F	R	N	L	R	D	P	R	L	E	A	P	A	E	E	D	V	W	E	I	L	R	Q	A	S	P	S	E	Y	E	R	I	A	F	Q	H	G	I	T	D	L	R	G	M	L	K	R	L	K	G	M	K	R	D	E	K
Mmusculus	partly conserved	256	F	D	S	C	N	F	N	L	T	V	H	E	A	I	G	S	G	D	L	D	L	R	S	A	F	R	R	T	S	L	A	G	A	G	R	R	T	S	D	S	H	E	D	A	G	T	L	D	F	S	S	L	L	K	K	R	D	S	F	R	-	-	R	D	S	K	L	E	A	P	A	E	E	D	V	W	E	I	L	R	Q	A	P	P	S	E	Y	E	R	I	A	F	Q	H	G	V	T	D	L	R	G	M	L	K	R	L	K	G
Ggallus	partly conserved	282	F	D	S	S	N	F	N	L	I	V	N	E	A	P	V	S	G	E	M	D	I	R	A	A	F	R	R	T	T	-	-	-	-	-	-	-	-	-	E	G	L	E	E	S	G	E	L	N	F	S	A	L	L	K	K	S	S	F	L	R	T	A	N	R	G	D	G	K	S	D	S	Q	P	D	V	D	V	W	E	I	L	R	K	A	P	P	S	E	Y	E	K	I	A	F	Q	Y	G	I	T	D	L	R	G	M	L	K	R	L	K	R	I	K
Trubripes	partly conserved	256	F	D	S	C	N	F	T	L	A	V	H	D	V	C	V	E	E	G	L	D	I	R	A	A	F	R	R	T	S	-	-	-	-	-	-	-	-	T	D	G	K	E	D	S	G	E	L	D	F	S	T	L	L	K	K	R	A	V	H	-	-	-	-	-	-	-	V	H	T	E	P	E	V	D	V	W	D	I	L	S	K	A	P	S	S	E	Y	E	K	I	A	F	Q	H	G	I	T	D	L	R	G	M	L	K	R	L	K	K	M	K	K	E	E
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	partly conserved	261	F	D	S	C	N	F	N	L	A	V	H	E	V	S	T	S	G	E	V	D	I	R	A	A	F	R	R	T	S	L	V	G	A	AK	R	R	I	SIAISG	D	G	A	E	E	A	G	E	L	D	F	S	A	L	L	K	K	R	D	S	F	L	R	S	V	N	R	N	E	P	K	Q	G	A	E	P	D	V	D	V	W	D	I	L	K	K	A	P	P	S	E	Y	E	K	I	A	F	Q	Y	G	I	T	D

Protein features

Start (aa)	End (aa)	Feature	Details
1	1274	CHAIN		lost
275	275	MOD_RES	Phosphoserine	lost
284	284	MOD_RES	Phosphoserine	lost
304	304	MOD_RES	Phosphoserine	lost
311	311	MOD_RES	Phosphoserine	lost
321	326	HELIX		lost
330	332	HELIX		lost
333	339	HELIX		lost
345	355	HELIX		lost
362	452	DOMAIN	Ig-like C2-type	lost
366	368	STRAND		lost
371	376	STRAND		lost
381	386	STRAND		lost
388	392	STRAND		lost
395	403	STRAND		lost
407	415	STRAND		lost
418	423	STRAND		lost
427	427	MOD_RES	Phosphoserine	lost
427	430	STRAND		lost
432	438	STRAND		lost
436	436	DISULFID		lost
441	443	STRAND		lost
446	450	STRAND		lost
453	543	DOMAIN	Ig-like C2-type	lost
456	458	STRAND		lost
465	467	STRAND		lost
471	474	STRAND		lost
475	479	STRAND		lost
486	488	STRAND		lost
499	506	STRAND		lost
509	517	STRAND		lost
519	521	TURN		lost
524	528	STRAND		lost
533	537	STRAND		lost
544	633	DOMAIN	Ig-like C2-type	lost
550	550	MOD_RES	Phosphoserine	lost
607	607	MOD_RES	Phosphothreonine	lost
645	771	DOMAIN	Ig-like C2-type	lost
650	652	STRAND		lost
658	665	STRAND		lost
670	672	STRAND		lost
675	677	STRAND		lost
680	686	STRAND		lost
722	724	STRAND		lost
726	730	STRAND		lost
733	737	STRAND		lost
743	745	TURN		lost
747	754	STRAND		lost
759	768	STRAND		lost
774	870	DOMAIN	Fibronectin type-III	lost
872	967	DOMAIN	Fibronectin type-III	lost
971	1065	DOMAIN	Ig-like C2-type	lost
1068	1163	DOMAIN	Fibronectin type-III	lost
1181	1274	DOMAIN	Ig-like C2-type	lost
1241	1241	MOD_RES	Omega-N-methylarginine	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.861	1
	7.861	1
(flanking)	-2.46	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

1

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

11

Strand

-1

Original gDNA sequence snippet

ACTTCAATCTCACTGTCCACGGTGAGGGGGCCCTGGTGTCT

Altered gDNA sequence snippet

ACTTCAATCTCACTGTCCACTGTGAGGGGGCCCTGGTGTCT

Original cDNA sequence snippet

ACTTCAATCTCACTGTCCACGAGGCCATGGGCACCGGAGAC

Altered cDNA sequence snippet

ACTTCAATCTCACTGTCCACTAGGCCATGGGCACCGGAGAC

Wildtype AA sequence

MPEPGKKPVS AFSKKPRSVE VAAGSPAVFE AETERAGVKV RWQRGGSDIS ASNKYGLATE
GTRHTLTVRE VGPADQGSYA VIAGSSKVKF DLKVIEAEKA EPMLAPAPAP AEATGAPGEA
PAPAAELGES APSPKGSSSA ALNGPTPGAP DDPIGLFVMR PQDGEVTVGG SITFSARVAG
ASLLKPPVVK WFKGKWVDLS SKVGQHLQLH DSYDRASKVY LFELHITDAQ PAFTGSYRCE
VSTKDKFDCS NFNLTVHEAM GTGDLDLLSA FRRTSLAGGG RRISDSHEDT GILDFSSLLK
KRDSFRTPRD SKLEAPAEED VWEILRQAPP SEYERIAFQY GVTDLRGMLK RLKGMRRDEK
KSTAFQKKLE PAYQVSKGHK IRLTVELADH DAEVKWLKNG QEIQMSGSKY IFESIGAKRT
LTISQCSLAD DAAYQCVVGG EKCSTELFVK EPPVLITRPL EDQLVMVGQR VEFECEVSEE
GAQVKWLKDG VELTREETFK YRFKKDGQRH HLIINEAMLE DAGHYALCTS GGQALAELIV
QEKKLEVYQS IADLMVGAKD QAVFKCEVSD ENVRGVWLKN GKELVPDSRI KVSHIGRVHK
LTIDDVTPAD EADYSFVPEG FACNLSAKLH FMEVKIDFVP RQEPPKIHLD CPGRIPDTIV
VVAGNKLRLD VPISGDPAPT VIWQKAITQG NKAPARPAPD APEDTGDSDE WVFDKKLLCE
TEGRVRVETT KDRSIFTVEG AEKEDEGVYT VTVKNPVGED QVNLTVKVID VPDAPAAPKI
SNVGEDSCTV QWEPPAYDGG QPILGYILER KKKKSYRWMR LNFDLIQELS HEARRMIEGV
VYEMRVYAVN AIGMSRPSPA SQPFMPIGPP SEPTHLAVED VSDTTVSLKW RPPERVGAGG
LDGYSVEYCP EGCSEWVAAL QGLTEHTSIL VKDLPTGARL LFRVRAHNMA GPGAPVTTTE
PVTVQEILQR PRLQLPRHLR QTIQKKVGEP VNLLIPFQGK PRPQVTWTKE GQPLAGEEVS
IRNSPTDTIL FIRAARRVHS GTYQVTVRIE NMEDKATLVL QVVDKPSPPQ DLRVTDAWGL
NVALEWKPPQ DVGNTELWGY TVQKADKKTM EWFTVLEHYR RTHCVVPELI IGNGYYFRVF
SQNMVGFSDR AATTKEPVFI PRPGITYEPP NYKALDFSEA PSFTQPLVNR SVIAGYTAML
CCAVRGSPKP KISWFKNGLD LGEDARFRMF SKQGVLTLEI RKPCPFDGGI YVCRATNLQG
EARCECRLEV RVPQ*

Mutated AA sequence

MPEPGKKPVS AFSKKPRSVE VAAGSPAVFE AETERAGVKV RWQRGGSDIS ASNKYGLATE
GTRHTLTVRE VGPADQGSYA VIAGSSKVKF DLKVIEAEKA EPMLAPAPAP AEATGAPGEA
PAPAAELGES APSPKGSSSA ALNGPTPGAP DDPIGLFVMR PQDGEVTVGG SITFSARVAG
ASLLKPPVVK WFKGKWVDLS SKVGQHLQLH DSYDRASKVY LFELHITDAQ PAFTGSYRCE
VSTKDKFDCS NFNLTVH*

Position of stopcodon in wt / mu CDS

3825 / 774

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

1275 / 258

Position of stopcodon in wt / mu cDNA

3880 / 829

Position of start ATG in wt / mu cDNA

56 / 56

Last intron/exon boundary

3906

Theoretical NMD boundary in CDS

3800

Length of CDS

3825

Coding sequence (CDS) position

772

cDNA position

827

gDNA position

4279

Chromosomal position

47348424

Speed

0.09 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