Yum, tasty mutations...

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: ENST00000549461
Querying Taster for transcript #2: ENST00000700559
Querying Taster for transcript #3: ENST00000070846
Querying Taster for transcript #4: ENST00000340811
Querying Taster for transcript #5: ENST00000700558
MT speed 0.05 s - this script 2.464443 s

Transcript summary:

Permalink
TranscriptGene symbolPredictionTree voteModelPrediction problemSplice site changeKnown ClinVar disease mutationPotential ClinVar disease mutationAmino acid changesVariant typedbSNP IDProtein lengthFeatures at a glance
PKP2Deleterious192|8without_aaeNoYesSingle base exchangeN/A
  • Known disease mutation: ClinVar ID 6756 (pathogenic)
  • Splice site lost
ENST00000340811(MANE Select)
PKP2Deleterious192|8without_aaeNoYesSingle base exchangeN/A
  • Known disease mutation: ClinVar ID 6756 (pathogenic)
  • Splice site lost
PKP2Deleterious200|0without_aaeNoYesSingle base exchangeN/A
  • Known disease mutation: ClinVar ID 6756 (pathogenic)
  • Splice site lost
PKP2Deleterious200|0without_aaeNoYesSingle base exchangeN/A
  • Known disease mutation: ClinVar ID 6756 (pathogenic)
  • Splice site lost
PKP2Deleterious200|0without_aaeNoYesSingle base exchangeN/A
  • Known disease mutation: ClinVar ID 6756 (pathogenic)
  • Splice site lost
Yum, tasty mutations...

MutationT@ster 2025

Variant:

12:32802557C>G_3_ENST00000070846

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Prediction:

DeleteriousPermalink

Summary:

  • Model: without_aae
  • Tree vote: 192|8 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr12:32802557C>G (GRCh38)
Gene symbol PKP2
Gene constraints LOEUF: 1.10, LOF (oe): 0.90, misssense (oe): 0.91, synonymous (oe): 0.96 ? (gnomAD)
Ensembl transcript ID ENST00000070846.11
Genbank transcript ID NM_004572 (by similarity)
UniProt / AlphaMissense peptide PKP2_HUMAN | AlphaMissense: transcript, gene
Variant type Single base exchange
Gene region intron
DNA changes c.2146-1G>C
g.94242G>C
AA changes N/A
Frameshift No
Length of protein N/A
Pathogenic variant (ClinVar)
Arrhythmogenic right ventricular cardiomyopathy
Cardiomyopathy
PKP2-related disorder
Arrhythmogenic right ventricular dysplasia 9
Cardiovascular phenotype		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs193922674
gnomADhomozygous (G/G)heterozygousallele carriers
0124124
Protein conservation N/A
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)2.8861
5.511
(flanking)5.5851
?
Splice sites alteration within used splice site, likely to disturb normal splicing

MaxEntScan:
effectgDNA positionscoresequence exon-intron border
Acceptor lost94242wt: 0.00 / mu: 0.00- wt: cacaaaacag|ATGCCGACAT
 mu: cacaaaacac|ATGCCGACAT
Distance from splice site 1
Kozak consensus sequence altered? N/A
poly(A) signal N/A
AA sequence altered N/A
Chromosome 12
Strand -1
Original gDNA sequence snippet AGGATATGTCTCACAAAACAGATGCCGACATCAGTGGCTCA
Altered gDNA sequence snippet AGGATATGTCTCACAAAACACATGCCGACATCAGTGGCTCA
Original cDNA sequence snippet N/A
Altered cDNA sequence snippet N/A
Wildtype AA sequence MAAPGAPAEY GYIRTVLGQQ ILGQLDSSSL ALPSEAKLKL AGSSGRGGQT VKSLRIQEQV
QQTLARKGRS SVGNGNLHRT SSVPEYVYNL HLVENDFVGG RSPVPKTYDM LKAGTTATYE
GRWGRGTAQY SSQKSVEERS LRHPLRRLEI SPDSSPERAH YTHSDYQYSQ RSQAGHTLHH
QESRRAALLV PPRYARSEIV GVSRAGTTSR QRHFDTYHRQ YQHGSVSDTV FDSIPANPAL
LTYPRPGTSR SMGNLLEKEN YLTAGLTVGQ VRPLVPLQPV TQNRASRSSW HQSSFHSTRT
LREAGPSVAV DSSGRRAHLT VGQAAAGGSG NLLTERSTFT DSQLGNADME MTLERAVSML
EADHMLPSRI SAAATFIQHE CFQKSEARKR VNQLRGILKL LQLLKVQNED VQRAVCGALR
NLVFEDNDNK LEVAELNGVP RLLQVLKQTR DLETKKQITD HTVNLRSRNG WPGAVAHACN
PSTLGGQGGR ITRSGVRDQP DQHGLLWNLS SNDKLKNLMI TEALLTLTEN IIIPFSGWPE
GDYPKANGLL DFDIFYNVTG CLRNMSSAGA DGRKAMRRCD GLIDSLVHYV RGTIADYQPD
DKATENCVCI LHNLSYQLEA ELPEKYSQNI YIQNRNIQTD NNKSIGCFGS RSRKVKEQYQ
DVPMPEEKSN PKGVEWLWHS IVIRMYLSLI AKSVRNYTQE ASLGALQNLT AGSGPMPTSV
AQTVVQKESG LQHTRKMLHV GDPSVKKTAI SLLRNLSRNL SLQNEIAKET LPDLVSIIPD
TVPSTDLLIE TTASACYTLN NIIQNSYQNA RDLLNTGGIQ KIMAISAGDA YASNKASKAA
SVLLYSLWAH TELHHAYKKA QFKKTDFVNS RTAKAYHSLK D*
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 47 / 47
Last intron/exon boundary 2623
Theoretical NMD boundary in CDS 2526
Length of CDS 2646
Coding sequence (CDS) position N/A
cDNA position N/A
gDNA position 94242
Chromosomal position 32802557
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
Yum, tasty mutations...

MutationT@ster 2025

Variant:

12:32802557C>G_4_ENST00000340811

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: without_aae
  • Tree vote: 192|8 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr12:32802557C>G (GRCh38)
Gene symbol PKP2
Gene constraints LOEUF: 1.10, LOF (oe): 0.90, misssense (oe): 0.91, synonymous (oe): 0.96 ? (gnomAD)
Ensembl transcript ID ENST00000340811.9
Genbank transcript ID NM_001005242 (exact from MANE), NM_001407156 (by similarity), NM_001407159 (by similarity), NM_001407158 (by similarity)
UniProt / AlphaMissense peptide PKP2_HUMAN | AlphaMissense: transcript, gene
Variant type Single base exchange
Gene region intron
DNA changes c.2014-1G>C
g.94242G>C
AA changes N/A
Frameshift No
Length of protein N/A
Pathogenic variant (ClinVar)
Arrhythmogenic right ventricular cardiomyopathy
Cardiomyopathy
PKP2-related disorder
Arrhythmogenic right ventricular dysplasia 9
Cardiovascular phenotype		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs193922674
gnomADhomozygous (G/G)heterozygousallele carriers
0124124
Protein conservation N/A
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)2.8861
5.511
(flanking)5.5851
?
Splice sites alteration within used splice site, likely to disturb normal splicing

MaxEntScan:
effectgDNA positionscoresequence exon-intron border
Acceptor lost94242wt: 0.00 / mu: 0.00- wt: cacaaaacag|ATGCCGACAT
 mu: cacaaaacac|ATGCCGACAT
Distance from splice site 1
Kozak consensus sequence altered? N/A
poly(A) signal N/A
AA sequence altered N/A
Chromosome 12
Strand -1
Original gDNA sequence snippet AGGATATGTCTCACAAAACAGATGCCGACATCAGTGGCTCA
Altered gDNA sequence snippet AGGATATGTCTCACAAAACACATGCCGACATCAGTGGCTCA
Original cDNA sequence snippet N/A
Altered cDNA sequence snippet N/A
Wildtype AA sequence MAAPGAPAEY GYIRTVLGQQ ILGQLDSSSL ALPSEAKLKL AGSSGRGGQT VKSLRIQEQV
QQTLARKGRS SVGNGNLHRT SSVPEYVYNL HLVENDFVGG RSPVPKTYDM LKAGTTATYE
GRWGRGTAQY SSQKSVEERS LRHPLRRLEI SPDSSPERAH YTHSDYQYSQ RSQAGHTLHH
QESRRAALLV PPRYARSEIV GVSRAGTTSR QRHFDTYHRQ YQHGSVSDTV FDSIPANPAL
LTYPRPGTSR SMGNLLEKEN YLTAGLTVGQ VRPLVPLQPV TQNRASRSSW HQSSFHSTRT
LREAGPSVAV DSSGRRAHLT VGQAAAGGSG NLLTERSTFT DSQLGNADME MTLERAVSML
EADHMLPSRI SAAATFIQHE CFQKSEARKR VNQLRGILKL LQLLKVQNED VQRAVCGALR
NLVFEDNDNK LEVAELNGVP RLLQVLKQTR DLETKKQITG LLWNLSSNDK LKNLMITEAL
LTLTENIIIP FSGWPEGDYP KANGLLDFDI FYNVTGCLRN MSSAGADGRK AMRRCDGLID
SLVHYVRGTI ADYQPDDKAT ENCVCILHNL SYQLEAELPE KYSQNIYIQN RNIQTDNNKS
IGCFGSRSRK VKEQYQDVPM PEEKSNPKGV EWLWHSIVIR MYLSLIAKSV RNYTQEASLG
ALQNLTAGSG PMPTSVAQTV VQKESGLQHT RKMLHVGDPS VKKTAISLLR NLSRNLSLQN
EIAKETLPDL VSIIPDTVPS TDLLIETTAS ACYTLNNIIQ NSYQNARDLL NTGGIQKIMA
ISAGDAYASN KASKAASVLL YSLWAHTELH HAYKKAQFKK TDFVNSRTAK AYHSLKD*
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 47 / 47
Last intron/exon boundary 2491
Theoretical NMD boundary in CDS 2394
Length of CDS 2514
Coding sequence (CDS) position N/A
cDNA position N/A
gDNA position 94242
Chromosomal position 32802557
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
Yum, tasty mutations...

MutationT@ster 2025

Variant:

12:32802557C>G_1_ENST00000549461

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: without_aae
  • Tree vote: 200|0 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr12:32802557C>G (GRCh38)
Gene symbol PKP2
Gene constraints no data
Ensembl transcript ID ENST00000549461.3
Genbank transcript ID
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region intron
DNA changes c.157-1G>C
g.94242G>C
AA changes N/A
Frameshift No
Length of protein N/A
Pathogenic variant (ClinVar)
Arrhythmogenic right ventricular cardiomyopathy
Cardiomyopathy
PKP2-related disorder
Arrhythmogenic right ventricular dysplasia 9
Cardiovascular phenotype		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs193922674
gnomADhomozygous (G/G)heterozygousallele carriers
0124124
Protein conservation N/A
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)2.8861
5.511
(flanking)5.5851
?
Splice sites alteration within used splice site, likely to disturb normal splicing

MaxEntScan:
effectgDNA positionscoresequence exon-intron border
Acceptor lost94242wt: 0.00 / mu: 0.00- wt: cacaaaacag|ATGCCGACAT
 mu: cacaaaacac|ATGCCGACAT
Distance from splice site 1
Kozak consensus sequence altered? N/A
poly(A) signal N/A
AA sequence altered N/A
Chromosome 12
Strand -1
Original gDNA sequence snippet AGGATATGTCTCACAAAACAGATGCCGACATCAGTGGCTCA
Altered gDNA sequence snippet AGGATATGTCTCACAAAACACATGCCGACATCAGTGGCTCA
Original cDNA sequence snippet N/A
Altered cDNA sequence snippet N/A
Wildtype AA sequence MPEEKSNPKG VEWLWHSIVI RMYLSLIAKS VRNYTQEASL GALQNLTAGS GPMPTSVAQT
VVQKESGLQH TRKMLHVGDP SVKKTAISLL RNLSRNLSLQ NEIAKETLPD LVSIIPDTVP
STDLLIETTA SACYTLNNII QNSYQNARDL LNTGGIQKIM AISAGDAYAS NKASKAASVL
LYSLWAHTEL HHAYKKAQFK KTDFVNSRTA KAYHSLKD*
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 397 / 397
Last intron/exon boundary 984
Theoretical NMD boundary in CDS 537
Length of CDS 657
Coding sequence (CDS) position N/A
cDNA position N/A
gDNA position 94242
Chromosomal position 32802557
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
Yum, tasty mutations...

MutationT@ster 2025

Variant:

12:32802557C>G_2_ENST00000700559

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: without_aae
  • Tree vote: 200|0 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr12:32802557C>G (GRCh38)
Gene symbol PKP2
Gene constraints no data
Ensembl transcript ID ENST00000700559.2
Genbank transcript ID NM_001407155 (by similarity), NM_001407160 (by similarity)
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region intron
DNA changes c.2014-1G>C
g.94242G>C
AA changes N/A
Frameshift No
Length of protein N/A
Pathogenic variant (ClinVar)
Arrhythmogenic right ventricular cardiomyopathy
Cardiomyopathy
PKP2-related disorder
Arrhythmogenic right ventricular dysplasia 9
Cardiovascular phenotype		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs193922674
gnomADhomozygous (G/G)heterozygousallele carriers
0124124
Protein conservation N/A
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)2.8861
5.511
(flanking)5.5851
?
Splice sites alteration within used splice site, likely to disturb normal splicing

MaxEntScan:
effectgDNA positionscoresequence exon-intron border
Acceptor lost94242wt: 0.00 / mu: 0.00- wt: cacaaaacag|ATGCCGACAT
 mu: cacaaaacac|ATGCCGACAT
Distance from splice site 1
Kozak consensus sequence altered? N/A
poly(A) signal N/A
AA sequence altered N/A
Chromosome 12
Strand -1
Original gDNA sequence snippet AGGATATGTCTCACAAAACAGATGCCGACATCAGTGGCTCA
Altered gDNA sequence snippet AGGATATGTCTCACAAAACACATGCCGACATCAGTGGCTCA
Original cDNA sequence snippet N/A
Altered cDNA sequence snippet N/A
Wildtype AA sequence MAAPGAPAEY GYIRTVLGQQ ILGQLDSSSL ALPSEAKLKL AGSSGRGGQT VKSLRIQEQV
QQTLARKGRS SVGNGNLHRT SSVPEYVYNL HLVENDFVGG RSPVPKTYDM LKAGTTATYE
GRWGRGTAQY SSQKSVEERS LRHPLRRLEI SPDSSPERAH YTHSDYQYSQ RSQAGHTLHH
QESRRAALLV PPRYARSEIV GVSRAGTTSR QRHFDTYHRQ YQHGSVSDTV FDSIPANPAL
LTYPRPGTSR SMGNLLEKEN YLTAGLTVGQ VRPLVPLQPV TQNRASRSSW HQSSFHSTRT
LREAGPSVAV DSSGRRAHLT VGQAAAGGSG NLLTERSTFT DSQLGNADME MTLERAVSML
EADHMLPSRI SAAATFIQHE CFQKSEARKR VNQLRGILKL LQLLKVQNED VQRAVCGALR
NLVFEDNDNK LEVAELNGVP RLLQVLKQTR DLETKKQITG LLWNLSSNDK LKNLMITEAL
LTLTENIIIP FSGWPEGDYP KANGLLDFDI FYNVTGCLRN MSSAGADGRK AMRRCDGLID
SLVHYVRGTI ADYQPDDKAT ENCVCILHNL SYQLEAELPE KYSQNIYIQN RNIQTDNNKS
IGCFGSRSRK VKEQYQDVPM PEEKSNPKGV EWLWHSIVIR MYLSLIAKSV RNYTQEASLG
ALQNLTAGSG PMPTSVAQTV VQKESGLQHT RKMLHVGDPS VKKTAISLLR NLSRNLSLQN
EIAMPPTKQV KLLPSFCILC GHTRNCIMPT RRLSLRRQIL STAGLPKPTT PLKTEENDKV
FSAAKIPKGK HLFFYYPAQE TSKACLVSIL LYFRGPLNPE NK*
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 68 / 68
Last intron/exon boundary 2322
Theoretical NMD boundary in CDS 2204
Length of CDS 2469
Coding sequence (CDS) position N/A
cDNA position N/A
gDNA position 94242
Chromosomal position 32802557
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
Yum, tasty mutations...

MutationT@ster 2025

Variant:

12:32802557C>G_5_ENST00000700558

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: without_aae
  • Tree vote: 200|0 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr12:32802557C>G (GRCh38)
Gene symbol PKP2
Gene constraints no data
Ensembl transcript ID ENST00000700558.2
Genbank transcript ID
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region intron
DNA changes c.157-1G>C
g.94242G>C
AA changes N/A
Frameshift No
Length of protein N/A
Pathogenic variant (ClinVar)
Arrhythmogenic right ventricular cardiomyopathy
Cardiomyopathy
PKP2-related disorder
Arrhythmogenic right ventricular dysplasia 9
Cardiovascular phenotype		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs193922674
gnomADhomozygous (G/G)heterozygousallele carriers
0124124
Protein conservation N/A
Protein features N/A
Phylogenetic conservation
PhyloPPhastCons
(flanking)2.8861
5.511
(flanking)5.5851
?
Splice sites alteration within used splice site, likely to disturb normal splicing

MaxEntScan:
effectgDNA positionscoresequence exon-intron border
Acceptor lost94242wt: 0.00 / mu: 0.00- wt: cacaaaacag|ATGCCGACAT
 mu: cacaaaacac|ATGCCGACAT
Distance from splice site 1
Kozak consensus sequence altered? N/A
poly(A) signal N/A
AA sequence altered N/A
Chromosome 12
Strand -1
Original gDNA sequence snippet AGGATATGTCTCACAAAACAGATGCCGACATCAGTGGCTCA
Altered gDNA sequence snippet AGGATATGTCTCACAAAACACATGCCGACATCAGTGGCTCA
Original cDNA sequence snippet N/A
Altered cDNA sequence snippet N/A
Wildtype AA sequence MPEEKSNPKG VEWLWHSIVI RMYLSLIAKS VRNYTQEASL GALQNLTAGS GPMPTSVAQT
VVQKESGLQH TRKMLHVGDP SVKKTAISLL RNLSRNLSLQ NEIAKETLPD LVSIIPDTVP
STDLLIETTA SACYTLNNII QNSYQNARDL LNTGGIQKIM AISAGDAYAS NKASKAASVL
LYSLWAHTEL HHAYKKAQFK KTDFVNSRTA KAYHSLKD*
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 96 / 96
Last intron/exon boundary 683
Theoretical NMD boundary in CDS 537
Length of CDS 657
Coding sequence (CDS) position N/A
cDNA position N/A
gDNA position 94242
Chromosomal position 32802557
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