Yum, tasty mutations...

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: ENST00000714236
Querying Taster for transcript #2: ENST00000714237
Querying Taster for transcript #3: ENST00000714238
Querying Taster for transcript #4: ENST00000665070
Querying Taster for transcript #5: ENST00000344887
Querying Taster for transcript #6: ENST00000714240
Querying Taster for transcript #7: ENST00000588882
MT speed 2.04 s - this script 4.49555 s

Transcript summary:

Permalink
TranscriptGene symbolPredictionTree voteModelPrediction problemSplice site changeKnown ClinVar disease mutationPotential ClinVar disease mutationAmino acid changesVariant typedbSNP IDProtein lengthFeatures at a glance
TNNI3Deleterious66|34simple_aaeNoYesSingle base exchangeNormal
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 12426 (pathogenic)
TNNI3Deleterious66|34simple_aaeNoYesSingle base exchangeNormal
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 12426 (pathogenic)
TNNI3Deleterious66|34simple_aaeNoYesSingle base exchangeNormal
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 12426 (pathogenic)
TNNI3Deleterious66|34simple_aaeNoYesSingle base exchangeNormal
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 12426 (pathogenic)
ENST00000344887(MANE Select)
TNNI3Deleterious70|30simple_aaeNoYesSingle base exchangeNormal
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 12426 (pathogenic)
  • Protein features (might be) affected
TNNI3Deleterious77|23simple_aaeNoYesSingle base exchangeNormal
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 12426 (pathogenic)
TNNI3Deleterious78|22simple_aaeNoYesSingle base exchangeNormal
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 12426 (pathogenic)
Yum, tasty mutations...

MutationT@ster 2025

Variant:

19:55154146G>A_1_ENST00000714236

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Prediction:

DeleteriousPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 66|34 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr19:55154146G>A (GRCh38)
Gene symbol TNNI3
Gene constraints no data
Ensembl transcript ID ENST00000714236.1
Genbank transcript ID
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region CDS
DNA changes c.391C>T
g.3628C>T
AA changes
AAE:R131W?
Score:101
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar)
Cardiomyopathy
SUDDEN INFANT DEATH SYNDROME
Hypertrophic cardiomyopathy
Restrictive cardiomyopathy
Dilated cardiomyopathy 1FF
Hypertrophic cardiomyopathy 7
Dilated cardiomyopathy 2A
Cardiomyopathy, familial restrictive, 1
TNNI3-related disorder		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs104894724
gnomADhomozygous (A/A)heterozygousallele carriers
01010
Protein conservation
SpeciesMatchGeneAAAlignment
Human      131DLRGKFKRPTLRRVRISADAMMQA
mutated  not conserved    131LRGKFKRPTLWRVRISADAMMQ
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
PhyloPPhastCons
(flanking)2.3020.966
2.310.999
(flanking)0.6960.997
?
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 19
Strand -1
Original gDNA sequence snippet AGTTTAAGCGGCCCACCCTGCGGAGAGTGAGGATCTCTGCA
Altered gDNA sequence snippet AGTTTAAGCGGCCCACCCTGTGGAGAGTGAGGATCTCTGCA
Original cDNA sequence snippet AGTTTAAGCGGCCCACCCTGCGGAGAGTGAGGATCTCTGCA
Altered cDNA sequence snippet AGTTTAAGCGGCCCACCCTGTGGAGAGTGAGGATCTCTGCA
Wildtype AA sequence MADGSSDAAR EPRPAPAPIR RRSSNYRAYA TEPHAKTLLL QIAKQELERE AEERRGEKGR
ALSTRCQPLE LAGLGFAELQ DLCRQLHARV DKVDEERYDI EAKVTKNITE IADLTQKIFD
LRGKFKRPTL RRVRISADAM MQALLGARAK ESLDLRAHLK QVKKEDTEKE NREVGDWRKN
IDALSGMEGR KKKFES*
Mutated AA sequence MADGSSDAAR EPRPAPAPIR RRSSNYRAYA TEPHAKTLLL QIAKQELERE AEERRGEKGR
ALSTRCQPLE LAGLGFAELQ DLCRQLHARV DKVDEERYDI EAKVTKNITE IADLTQKIFD
LRGKFKRPTL WRVRISADAM MQALLGARAK ESLDLRAHLK QVKKEDTEKE NREVGDWRKN
IDALSGMEGR KKKFES*
Position of stopcodon in wt / mu CDS 591 / 591
Position (AA) of stopcodon in wt / mu AA sequence 197 / 197
Position of stopcodon in wt / mu cDNA 734 / 734
Position of start ATG in wt / mu cDNA 144 / 144
Last intron/exon boundary 650
Theoretical NMD boundary in CDS 456
Length of CDS 591
Coding sequence (CDS) position 391
cDNA position 534
gDNA position 3628
Chromosomal position 55154146
Speed 0.36 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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Yum, tasty mutations...

MutationT@ster 2025

Variant:

19:55154146G>A_2_ENST00000714237

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 66|34 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr19:55154146G>A (GRCh38)
Gene symbol TNNI3
Gene constraints no data
Ensembl transcript ID ENST00000714237.1
Genbank transcript ID
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region CDS
DNA changes c.349C>T
g.3628C>T
AA changes
AAE:R117W?
Score:101
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar)
Cardiomyopathy
SUDDEN INFANT DEATH SYNDROME
Hypertrophic cardiomyopathy
Restrictive cardiomyopathy
Dilated cardiomyopathy 1FF
Hypertrophic cardiomyopathy 7
Dilated cardiomyopathy 2A
Cardiomyopathy, familial restrictive, 1
TNNI3-related disorder		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs104894724
gnomADhomozygous (A/A)heterozygousallele carriers
01010
Protein conservation
SpeciesMatchGeneAAAlignment
Human      117DLRGKFKRPTLRRVRISADAMMQA
mutated  not conserved    117DLRGKFKRPTLWRVR
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
PhyloPPhastCons
(flanking)2.3020.966
2.310.999
(flanking)0.6960.997
?
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 19
Strand -1
Original gDNA sequence snippet AGTTTAAGCGGCCCACCCTGCGGAGAGTGAGGATCTCTGCA
Altered gDNA sequence snippet AGTTTAAGCGGCCCACCCTGTGGAGAGTGAGGATCTCTGCA
Original cDNA sequence snippet AGTTTAAGCGGCCCACCCTGCGGAGAGTGAGGATCTCTGCA
Altered cDNA sequence snippet AGTTTAAGCGGCCCACCCTGTGGAGAGTGAGGATCTCTGCA
Wildtype AA sequence MADGSSDAKK SKISASRKLQ LKTLLLQIAK QELEREAEER RGEKGRALST RCQPLELAGL
GFAELQDLCR QLHARVDKVD EERYDIEAKV TKNITEIADL TQKIFDLRGK FKRPTLRRVR
ISADAMMQAL LGARAKESLD LRAHLKQVKK EDTEKENREV GDWRKNIDAL SGMEGRKKKF
ES*
Mutated AA sequence MADGSSDAKK SKISASRKLQ LKTLLLQIAK QELEREAEER RGEKGRALST RCQPLELAGL
GFAELQDLCR QLHARVDKVD EERYDIEAKV TKNITEIADL TQKIFDLRGK FKRPTLWRVR
ISADAMMQAL LGARAKESLD LRAHLKQVKK EDTEKENREV GDWRKNIDAL SGMEGRKKKF
ES*
Position of stopcodon in wt / mu CDS 549 / 549
Position (AA) of stopcodon in wt / mu AA sequence 183 / 183
Position of stopcodon in wt / mu cDNA 692 / 692
Position of start ATG in wt / mu cDNA 144 / 144
Last intron/exon boundary 608
Theoretical NMD boundary in CDS 414
Length of CDS 549
Coding sequence (CDS) position 349
cDNA position 492
gDNA position 3628
Chromosomal position 55154146
Speed 0.36 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:

19:55154146G>A_3_ENST00000714238

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 66|34 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr19:55154146G>A (GRCh38)
Gene symbol TNNI3
Gene constraints no data
Ensembl transcript ID ENST00000714238.1
Genbank transcript ID
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region CDS
DNA changes c.421C>T
g.3628C>T
AA changes
AAE:R141W?
Score:101
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar)
Cardiomyopathy
SUDDEN INFANT DEATH SYNDROME
Hypertrophic cardiomyopathy
Restrictive cardiomyopathy
Dilated cardiomyopathy 1FF
Hypertrophic cardiomyopathy 7
Dilated cardiomyopathy 2A
Cardiomyopathy, familial restrictive, 1
TNNI3-related disorder		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs104894724
gnomADhomozygous (A/A)heterozygousallele carriers
01010
Protein conservation
SpeciesMatchGeneAAAlignment
Human      141DLRGKFKRPTLRRVRISADAMMQA
mutated  not conserved    141DLRGKFKRPTLWRVRISADAMMQ
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
PhyloPPhastCons
(flanking)2.3020.966
2.310.999
(flanking)0.6960.997
?
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 19
Strand -1
Original gDNA sequence snippet AGTTTAAGCGGCCCACCCTGCGGAGAGTGAGGATCTCTGCA
Altered gDNA sequence snippet AGTTTAAGCGGCCCACCCTGTGGAGAGTGAGGATCTCTGCA
Original cDNA sequence snippet AGTTTAAGCGGCCCACCCTGCGGAGAGTGAGGATCTCTGCA
Altered cDNA sequence snippet AGTTTAAGCGGCCCACCCTGTGGAGAGTGAGGATCTCTGCA
Wildtype AA sequence MADGSSDAAR EPRPAPAPIR RRSSNYRAYA TEPHAKISAS RKLQLKTLLL QIAKQELERE
AEERRGEKGR ALSTRCQPLE LAGLGFAELQ DLCRQLHARV DKVDEERYDI EAKVTKNITE
IADLTQKIFD LRGKFKRPTL RRVRISADAM MQALLGARAK ESLDLRAHLK QVKKEDTEKE
NREVGDWRKN IDALSGMEGR KKKFES*
Mutated AA sequence MADGSSDAAR EPRPAPAPIR RRSSNYRAYA TEPHAKISAS RKLQLKTLLL QIAKQELERE
AEERRGEKGR ALSTRCQPLE LAGLGFAELQ DLCRQLHARV DKVDEERYDI EAKVTKNITE
IADLTQKIFD LRGKFKRPTL WRVRISADAM MQALLGARAK ESLDLRAHLK QVKKEDTEKE
NREVGDWRKN IDALSGMEGR KKKFES*
Position of stopcodon in wt / mu CDS 621 / 621
Position (AA) of stopcodon in wt / mu AA sequence 207 / 207
Position of stopcodon in wt / mu cDNA 764 / 764
Position of start ATG in wt / mu cDNA 144 / 144
Last intron/exon boundary 680
Theoretical NMD boundary in CDS 486
Length of CDS 621
Coding sequence (CDS) position 421
cDNA position 564
gDNA position 3628
Chromosomal position 55154146
Speed 0.35 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:

19:55154146G>A_6_ENST00000714240

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 66|34 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr19:55154146G>A (GRCh38)
Gene symbol TNNI3
Gene constraints no data
Ensembl transcript ID ENST00000714240.1
Genbank transcript ID
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region CDS
DNA changes c.226C>T
g.3628C>T
AA changes
AAE:R76W?
Score:101
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar)
Cardiomyopathy
SUDDEN INFANT DEATH SYNDROME
Hypertrophic cardiomyopathy
Restrictive cardiomyopathy
Dilated cardiomyopathy 1FF
Hypertrophic cardiomyopathy 7
Dilated cardiomyopathy 2A
Cardiomyopathy, familial restrictive, 1
TNNI3-related disorder		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs104894724
gnomADhomozygous (A/A)heterozygousallele carriers
01010
Protein conservation
SpeciesMatchGeneAAAlignment
Human      76DLRGKFKRPTLRRVRISADAMMQA
mutated  not conserved    76DLRGKFKRPTLWRVRISADAMMQ
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
PhyloPPhastCons
(flanking)2.3020.966
2.310.999
(flanking)0.6960.997
?
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 19
Strand -1
Original gDNA sequence snippet AGTTTAAGCGGCCCACCCTGCGGAGAGTGAGGATCTCTGCA
Altered gDNA sequence snippet AGTTTAAGCGGCCCACCCTGTGGAGAGTGAGGATCTCTGCA
Original cDNA sequence snippet AGTTTAAGCGGCCCACCCTGCGGAGAGTGAGGATCTCTGCA
Altered cDNA sequence snippet AGTTTAAGCGGCCCACCCTGTGGAGAGTGAGGATCTCTGCA
Wildtype AA sequence MILPCSISPW QKKSKISASR KLQLKDLCRQ LHARVDKVDE ERYDIEAKVT KNITEIADLT
QKIFDLRGKF KRPTLRRVRI SADAMMQALL GARAKESLDL RAHLKQVKKE DTEKENREVG
DWRKNIDALS GMEGRKKKFE S*
Mutated AA sequence MILPCSISPW QKKSKISASR KLQLKDLCRQ LHARVDKVDE ERYDIEAKVT KNITEIADLT
QKIFDLRGKF KRPTLWRVRI SADAMMQALL GARAKESLDL RAHLKQVKKE DTEKENREVG
DWRKNIDALS GMEGRKKKFE S*
Position of stopcodon in wt / mu CDS 426 / 426
Position (AA) of stopcodon in wt / mu AA sequence 142 / 142
Position of stopcodon in wt / mu cDNA 474 / 474
Position of start ATG in wt / mu cDNA 49 / 49
Last intron/exon boundary 390
Theoretical NMD boundary in CDS 291
Length of CDS 426
Coding sequence (CDS) position 226
cDNA position 274
gDNA position 3628
Chromosomal position 55154146
Speed 0.14 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:

19:55154146G>A_5_ENST00000344887

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 70|30 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr19:55154146G>A (GRCh38)
Gene symbol TNNI3
Gene constraints LOEUF: 1.10, LOF (oe): 0.78, misssense (oe): 0.87, synonymous (oe): 1.14 ? (gnomAD)
Ensembl transcript ID ENST00000344887.10
Genbank transcript ID NM_000363 (exact from MANE)
UniProt / AlphaMissense peptide TNNI3_HUMAN | AlphaMissense: transcript, gene
Variant type Single base exchange
Gene region CDS
DNA changes c.433C>T
g.3628C>T
AA changes
AAE:R145W?
Score:101
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar)
Cardiomyopathy
SUDDEN INFANT DEATH SYNDROME
Hypertrophic cardiomyopathy
Restrictive cardiomyopathy
Dilated cardiomyopathy 1FF
Hypertrophic cardiomyopathy 7
Dilated cardiomyopathy 2A
Cardiomyopathy, familial restrictive, 1
TNNI3-related disorder		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs104894724
gnomADhomozygous (A/A)heterozygousallele carriers
01010
Protein conservation
SpeciesMatchGeneAAAlignment
Human      145DLRGKFKRPTLRRVRISADAMMQA
mutated  not conserved    145DLRGKFKRPTLWRVRISADAMMQ
Ptroglodytes  all identical    104DLRGKFKRPTLRRVRISAD
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical    146DLRGKFKRPTLRRVRISADAMMQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  all conserved    657DLRGKFVKPSLKKVS-KYDNKFK
Xtropicalis  all identical    171DLRGKFKKPNLRRVRLSADAMMR
Protein features
Start (aa)End (aa)FeatureDetails 
2210CHAINlost
129149REGIONlost
140159HELIXlost
Phylogenetic conservation
PhyloPPhastCons
(flanking)2.3020.966
2.310.999
(flanking)0.6960.997
?
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 19
Strand -1
Original gDNA sequence snippet AGTTTAAGCGGCCCACCCTGCGGAGAGTGAGGATCTCTGCA
Altered gDNA sequence snippet AGTTTAAGCGGCCCACCCTGTGGAGAGTGAGGATCTCTGCA
Original cDNA sequence snippet AGTTTAAGCGGCCCACCCTGCGGAGAGTGAGGATCTCTGCA
Altered cDNA sequence snippet AGTTTAAGCGGCCCACCCTGTGGAGAGTGAGGATCTCTGCA
Wildtype AA sequence MADGSSDAAR EPRPAPAPIR RRSSNYRAYA TEPHAKKKSK ISASRKLQLK TLLLQIAKQE
LEREAEERRG EKGRALSTRC QPLELAGLGF AELQDLCRQL HARVDKVDEE RYDIEAKVTK
NITEIADLTQ KIFDLRGKFK RPTLRRVRIS ADAMMQALLG ARAKESLDLR AHLKQVKKED
TEKENREVGD WRKNIDALSG MEGRKKKFES *
Mutated AA sequence MADGSSDAAR EPRPAPAPIR RRSSNYRAYA TEPHAKKKSK ISASRKLQLK TLLLQIAKQE
LEREAEERRG EKGRALSTRC QPLELAGLGF AELQDLCRQL HARVDKVDEE RYDIEAKVTK
NITEIADLTQ KIFDLRGKFK RPTLWRVRIS ADAMMQALLG ARAKESLDLR AHLKQVKKED
TEKENREVGD WRKNIDALSG MEGRKKKFES *
Position of stopcodon in wt / mu CDS 633 / 633
Position (AA) of stopcodon in wt / mu AA sequence 211 / 211
Position of stopcodon in wt / mu cDNA 776 / 776
Position of start ATG in wt / mu cDNA 144 / 144
Last intron/exon boundary 692
Theoretical NMD boundary in CDS 498
Length of CDS 633
Coding sequence (CDS) position 433
cDNA position 576
gDNA position 3628
Chromosomal position 55154146
Speed 0.34 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:

19:55154146G>A_4_ENST00000665070

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 77|23 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr19:55154146G>A (GRCh38)
Gene symbol TNNI3
Gene constraints LOEUF: 1.11, LOF (oe): 0.78, misssense (oe): 0.87, synonymous (oe): 1.13 ? (gnomAD)
Ensembl transcript ID ENST00000665070.1
Genbank transcript ID
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region CDS
DNA changes c.466C>T
g.3628C>T
AA changes
AAE:R156W?
Score:101
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar)
Cardiomyopathy
SUDDEN INFANT DEATH SYNDROME
Hypertrophic cardiomyopathy
Restrictive cardiomyopathy
Dilated cardiomyopathy 1FF
Hypertrophic cardiomyopathy 7
Dilated cardiomyopathy 2A
Cardiomyopathy, familial restrictive, 1
TNNI3-related disorder		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs104894724
gnomADhomozygous (A/A)heterozygousallele carriers
01010
Protein conservation
SpeciesMatchGeneAAAlignment
Human      156DLRGKFKRPTLRRVRISADAMMQA
mutated  not conserved    156DLRGKFKRPTLWRVRISADAMMQ
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
PhyloPPhastCons
(flanking)2.3020.966
2.310.999
(flanking)0.6960.997
?
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 19
Strand -1
Original gDNA sequence snippet AGTTTAAGCGGCCCACCCTGCGGAGAGTGAGGATCTCTGCA
Altered gDNA sequence snippet AGTTTAAGCGGCCCACCCTGTGGAGAGTGAGGATCTCTGCA
Original cDNA sequence snippet AGTTTAAGCGGCCCACCCTGCGGAGAGTGAGGATCTCTGCA
Altered cDNA sequence snippet AGTTTAAGCGGCCCACCCTGTGGAGAGTGAGGATCTCTGCA
Wildtype AA sequence MADGSSDAAR EPRPAPAPIR RRSSNYRAYA TEPHAKKKSK ISASRKLQLK TLLLQIAKQE
LEREAEERRG EKGRALSTRC QPLELAGLGF AELQDLCRQL HARVDKVDEE RYDIEAKVTK
NITEVGRMGS SGTFGIADLT QKIFDLRGKF KRPTLRRVRI SADAMMQALL GARAKESLDL
RAHLKQVKKE DTEKENREVG DWRKNIDALS GMEGRKKKFE S*
Mutated AA sequence MADGSSDAAR EPRPAPAPIR RRSSNYRAYA TEPHAKKKSK ISASRKLQLK TLLLQIAKQE
LEREAEERRG EKGRALSTRC QPLELAGLGF AELQDLCRQL HARVDKVDEE RYDIEAKVTK
NITEVGRMGS SGTFGIADLT QKIFDLRGKF KRPTLWRVRI SADAMMQALL GARAKESLDL
RAHLKQVKKE DTEKENREVG DWRKNIDALS GMEGRKKKFE S*
Position of stopcodon in wt / mu CDS 666 / 666
Position (AA) of stopcodon in wt / mu AA sequence 222 / 222
Position of stopcodon in wt / mu cDNA 809 / 809
Position of start ATG in wt / mu cDNA 144 / 144
Last intron/exon boundary 725
Theoretical NMD boundary in CDS 531
Length of CDS 666
Coding sequence (CDS) position 466
cDNA position 609
gDNA position 3628
Chromosomal position 55154146
Speed 0.36 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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Yum, tasty mutations...

MutationT@ster 2025

Variant:

19:55154146G>A_7_ENST00000588882

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Prediction:

DeleteriousPermalink

Summary:

  • Model: simple_aae
  • Tree vote: 78|22 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr19:55154146G>A (GRCh38)
Gene symbol TNNI3
Gene constraints LOEUF: 1.26, LOF (oe): 0.87, misssense (oe): 0.89, synonymous (oe): 1.16 ? (gnomAD)
Ensembl transcript ID ENST00000588882.1
Genbank transcript ID
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region CDS
DNA changes c.358C>T
g.3628C>T
AA changes
AAE:R120W?
Score:101
Frameshift No
Length of protein Normal
Pathogenic variant (ClinVar)
Cardiomyopathy
SUDDEN INFANT DEATH SYNDROME
Hypertrophic cardiomyopathy
Restrictive cardiomyopathy
Dilated cardiomyopathy 1FF
Hypertrophic cardiomyopathy 7
Dilated cardiomyopathy 2A
Cardiomyopathy, familial restrictive, 1
TNNI3-related disorder		pathogenicClinVar OMIM
Variant DBs
dbSNP IDrs104894724
gnomADhomozygous (A/A)heterozygousallele carriers
01010
Protein conservation
SpeciesMatchGeneAAAlignment
Human      120DLRGKFKRPTLRRVRISADAMMQA
mutated  not conserved    120DLRGKFKRPTLWRVRISADAMMQ
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
PhyloPPhastCons
(flanking)2.3020.966
2.310.999
(flanking)0.6960.997
?
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 19
Strand -1
Original gDNA sequence snippet AGTTTAAGCGGCCCACCCTGCGGAGAGTGAGGATCTCTGCA
Altered gDNA sequence snippet AGTTTAAGCGGCCCACCCTGTGGAGAGTGAGGATCTCTGCA
Original cDNA sequence snippet AGTTTAAGCGGCCCACCCTGCGGAGAGTGAGGATCTCTGCA
Altered cDNA sequence snippet AGTTTAAGCGGCCCACCCTGTGGAGAGTGAGGATCTCTGCA
Wildtype AA sequence MILPCSISPW QKKSKISASR KLQLKTLLLQ IAKQELEREA EERRGEKGRA LSTRCQPLEL
AGLGFAELQD LCRQLHARVD KVDEERYDIE AKVTKNITEI ADLTQKIFDL RGKFKRPTLR
RVRISADAMM QALLGARAKE SLDLRAHLKQ VKKEDTEKEN REVGDWRKNI DALSGMEGRK
KKFES*
Mutated AA sequence MILPCSISPW QKKSKISASR KLQLKTLLLQ IAKQELEREA EERRGEKGRA LSTRCQPLEL
AGLGFAELQD LCRQLHARVD KVDEERYDIE AKVTKNITEI ADLTQKIFDL RGKFKRPTLW
RVRISADAMM QALLGARAKE SLDLRAHLKQ VKKEDTEKEN REVGDWRKNI DALSGMEGRK
KKFES*
Position of stopcodon in wt / mu CDS 558 / 558
Position (AA) of stopcodon in wt / mu AA sequence 186 / 186
Position of stopcodon in wt / mu cDNA 606 / 606
Position of start ATG in wt / mu cDNA 49 / 49
Last intron/exon boundary 522
Theoretical NMD boundary in CDS 423
Length of CDS 558
Coding sequence (CDS) position 358
cDNA position 406
gDNA position 3628
Chromosomal position 55154146
Speed 0.13 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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