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: 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 0.62 s - this script 3.114198 s

Transcript summary:

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TranscriptGene symbolPredictionTree voteModelPrediction problemSplice site changeKnown ClinVar disease mutationPotential ClinVar disease mutationAmino acid changesVariant typedbSNP IDProtein lengthFeatures at a glance
TNNI3Deleterious10|0complex_aaeNoK164*Single base exchangeStrongly truncated protein, might cause NMD (-33 AA / more than 10% missing)
  • Amino acid sequence changed
  • Truncated protein (might cause NMD)
TNNI3Deleterious10|0complex_aaeNoK150*Single base exchangeStrongly truncated protein, might cause NMD (-33 AA / more than 10% missing)
  • Amino acid sequence changed
  • Truncated protein (might cause NMD)
TNNI3Deleterious10|0complex_aaeNoK174*Single base exchangeStrongly truncated protein, might cause NMD (-33 AA / more than 10% missing)
  • Amino acid sequence changed
  • Truncated protein (might cause NMD)
TNNI3Deleterious10|0complex_aaeNoK189*Single base exchangeStrongly truncated protein, might cause NMD (-33 AA / more than 10% missing)
  • Amino acid sequence changed
  • Truncated protein (might cause NMD)
TNNI3Deleterious10|0complex_aaeNoK109*Single base exchangeStrongly truncated protein, might cause NMD (-33 AA / more than 10% missing)
  • Amino acid sequence changed
  • Truncated protein (might cause NMD)
ENST00000344887(MANE Select)
TNNI3Deleterious10|0complex_aaeNoK178*Single base exchangeStrongly truncated protein, might cause NMD (-33 AA / more than 10% missing)
  • Amino acid sequence changed
  • Protein features (might be) affected
  • Truncated protein (might cause NMD)
TNNI3Deleterious10|0complex_aaeNoK153*Single base exchangeStrongly truncated protein, might cause NMD (-33 AA / more than 10% missing)
  • Amino acid sequence changed
  • Truncated protein (might cause NMD)
Yum, tasty mutations...

MutationT@ster 2025

Variant:

19:55154047T>A_1_ENST00000714236

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Prediction:

DeleteriousPermalink

Summary:

  • Model: complex_aae
  • Tree vote: 10|0 (del | benign) ?
Analysed issue Analysis result
Variant Chr19:55154047T>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.490A>T
g.3727A>T
AA changes
AAE:K164*E165-D166-T167-E168-K169-E170-N171-R172-E173-V174-G175-D176-W177-R178-K179-N180-I181-D182-A183-L184-S185-G186-M187-E188-G189-R190-K191-K192-K193-F194-E195-S196-*197-?
Score:----------------------------------
Frameshift No
Length of protein Strongly truncated protein, might cause NMD (-33 AA / more than 10% missing)
Pathogenic variant (ClinVar) Variant not listed in ClinVar as (likely) pathogenic.
Variant DBs
Not in dbSNP
Allele 'A' was not found in gnomAD
Protein conservation
SpeciesMatchGeneAAAlignment
Human      164LDLRAHLKQVKKEDTEKENREVGD
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
PhyloPPhastCons
(flanking)7.9261
7.9261
(flanking)6.0881
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 18
Kozak consensus sequence altered? No
poly(A) signal N/A
AA sequence altered Yes
Chromosome 19
Strand -1
Original gDNA sequence snippet CCCACCTCAAGCAGGTGAAGAAGGAGGACACCGAGAAGGTG
Altered gDNA sequence snippet CCCACCTCAAGCAGGTGAAGTAGGAGGACACCGAGAAGGTG
Original cDNA sequence snippet CCCACCTCAAGCAGGTGAAGAAGGAGGACACCGAGAAGGAA
Altered cDNA sequence snippet CCCACCTCAAGCAGGTGAAGTAGGAGGACACCGAGAAGGAA
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 RRVRISADAM MQALLGARAK ESLDLRAHLK QVK*
Position of stopcodon in wt / mu CDS 591 / 492
Position (AA) of stopcodon in wt / mu AA sequence 197 / 164
Position of stopcodon in wt / mu cDNA 734 / 635
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 490
cDNA position 633
gDNA position 3727
Chromosomal position 55154047
Speed 0.06 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:

19:55154047T>A_2_ENST00000714237

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Prediction:

DeleteriousPermalink

Summary:

  • Model: complex_aae
  • Tree vote: 10|0 (del | benign) ?
Analysed issue Analysis result
Variant Chr19:55154047T>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.448A>T
g.3727A>T
AA changes
AAE:K150*E151-D152-T153-E154-K155-E156-N157-R158-E159-V160-G161-D162-W163-R164-K165-N166-I167-D168-A169-L170-S171-G172-M173-E174-G175-R176-K177-K178-K179-F180-E181-S182-*183-?
Score:----------------------------------
Frameshift No
Length of protein Strongly truncated protein, might cause NMD (-33 AA / more than 10% missing)
Pathogenic variant (ClinVar) Variant not listed in ClinVar as (likely) pathogenic.
Variant DBs
Not in dbSNP
Allele 'A' was not found in gnomAD
Protein conservation
SpeciesMatchGeneAAAlignment
Human      150LDLRAHLKQVKKEDTEKENREVGD
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
PhyloPPhastCons
(flanking)7.9261
7.9261
(flanking)6.0881
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 18
Kozak consensus sequence altered? No
poly(A) signal N/A
AA sequence altered Yes
Chromosome 19
Strand -1
Original gDNA sequence snippet CCCACCTCAAGCAGGTGAAGAAGGAGGACACCGAGAAGGTG
Altered gDNA sequence snippet CCCACCTCAAGCAGGTGAAGTAGGAGGACACCGAGAAGGTG
Original cDNA sequence snippet CCCACCTCAAGCAGGTGAAGAAGGAGGACACCGAGAAGGAA
Altered cDNA sequence snippet CCCACCTCAAGCAGGTGAAGTAGGAGGACACCGAGAAGGAA
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 FKRPTLRRVR
ISADAMMQAL LGARAKESLD LRAHLKQVK*
Position of stopcodon in wt / mu CDS 549 / 450
Position (AA) of stopcodon in wt / mu AA sequence 183 / 150
Position of stopcodon in wt / mu cDNA 692 / 593
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 448
cDNA position 591
gDNA position 3727
Chromosomal position 55154047
Speed 0.10 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:

19:55154047T>A_3_ENST00000714238

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: complex_aae
  • Tree vote: 10|0 (del | benign) ?
Analysed issue Analysis result
Variant Chr19:55154047T>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.520A>T
g.3727A>T
AA changes
AAE:K174*E175-D176-T177-E178-K179-E180-N181-R182-E183-V184-G185-D186-W187-R188-K189-N190-I191-D192-A193-L194-S195-G196-M197-E198-G199-R200-K201-K202-K203-F204-E205-S206-*207-?
Score:----------------------------------
Frameshift No
Length of protein Strongly truncated protein, might cause NMD (-33 AA / more than 10% missing)
Pathogenic variant (ClinVar) Variant not listed in ClinVar as (likely) pathogenic.
Variant DBs
Not in dbSNP
Allele 'A' was not found in gnomAD
Protein conservation
SpeciesMatchGeneAAAlignment
Human      174LDLRAHLKQVKKEDTEKENREVGD
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
PhyloPPhastCons
(flanking)7.9261
7.9261
(flanking)6.0881
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 18
Kozak consensus sequence altered? No
poly(A) signal N/A
AA sequence altered Yes
Chromosome 19
Strand -1
Original gDNA sequence snippet CCCACCTCAAGCAGGTGAAGAAGGAGGACACCGAGAAGGTG
Altered gDNA sequence snippet CCCACCTCAAGCAGGTGAAGTAGGAGGACACCGAGAAGGTG
Original cDNA sequence snippet CCCACCTCAAGCAGGTGAAGAAGGAGGACACCGAGAAGGAA
Altered cDNA sequence snippet CCCACCTCAAGCAGGTGAAGTAGGAGGACACCGAGAAGGAA
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 RRVRISADAM MQALLGARAK ESLDLRAHLK QVK*
Position of stopcodon in wt / mu CDS 621 / 522
Position (AA) of stopcodon in wt / mu AA sequence 207 / 174
Position of stopcodon in wt / mu cDNA 764 / 665
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 520
cDNA position 663
gDNA position 3727
Chromosomal position 55154047
Speed 0.12 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:

19:55154047T>A_4_ENST00000665070

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Prediction:

DeleteriousPermalink

Summary:

  • Model: complex_aae
  • Tree vote: 10|0 (del | benign) ?
Analysed issue Analysis result
Variant Chr19:55154047T>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.565A>T
g.3727A>T
AA changes
AAE:K189*E190-D191-T192-E193-K194-E195-N196-R197-E198-V199-G200-D201-W202-R203-K204-N205-I206-D207-A208-L209-S210-G211-M212-E213-G214-R215-K216-K217-K218-F219-E220-S221-*222-?
Score:----------------------------------
Frameshift No
Length of protein Strongly truncated protein, might cause NMD (-33 AA / more than 10% missing)
Pathogenic variant (ClinVar) Variant not listed in ClinVar as (likely) pathogenic.
Variant DBs
Not in dbSNP
Allele 'A' was not found in gnomAD
Protein conservation
SpeciesMatchGeneAAAlignment
Human      189LDLRAHLKQVKKEDTEKENREVGD
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
PhyloPPhastCons
(flanking)7.9261
7.9261
(flanking)6.0881
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 18
Kozak consensus sequence altered? No
poly(A) signal N/A
AA sequence altered Yes
Chromosome 19
Strand -1
Original gDNA sequence snippet CCCACCTCAAGCAGGTGAAGAAGGAGGACACCGAGAAGGTG
Altered gDNA sequence snippet CCCACCTCAAGCAGGTGAAGTAGGAGGACACCGAGAAGGTG
Original cDNA sequence snippet CCCACCTCAAGCAGGTGAAGAAGGAGGACACCGAGAAGGAA
Altered cDNA sequence snippet CCCACCTCAAGCAGGTGAAGTAGGAGGACACCGAGAAGGAA
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 KRPTLRRVRI SADAMMQALL GARAKESLDL
RAHLKQVK*
Position of stopcodon in wt / mu CDS 666 / 567
Position (AA) of stopcodon in wt / mu AA sequence 222 / 189
Position of stopcodon in wt / mu cDNA 809 / 710
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 565
cDNA position 708
gDNA position 3727
Chromosomal position 55154047
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

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Yum, tasty mutations...

MutationT@ster 2025

Variant:

19:55154047T>A_6_ENST00000714240

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Prediction:

DeleteriousPermalink

Summary:

  • Model: complex_aae
  • Tree vote: 10|0 (del | benign) ?
Analysed issue Analysis result
Variant Chr19:55154047T>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.325A>T
g.3727A>T
AA changes
AAE:K109*E110-D111-T112-E113-K114-E115-N116-R117-E118-V119-G120-D121-W122-R123-K124-N125-I126-D127-A128-L129-S130-G131-M132-E133-G134-R135-K136-K137-K138-F139-E140-S141-*142-?
Score:----------------------------------
Frameshift No
Length of protein Strongly truncated protein, might cause NMD (-33 AA / more than 10% missing)
Pathogenic variant (ClinVar) Variant not listed in ClinVar as (likely) pathogenic.
Variant DBs
Not in dbSNP
Allele 'A' was not found in gnomAD
Protein conservation
SpeciesMatchGeneAAAlignment
Human      109LDLRAHLKQVKKEDTEKENREVGD
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
PhyloPPhastCons
(flanking)7.9261
7.9261
(flanking)6.0881
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 18
Kozak consensus sequence altered? No
poly(A) signal N/A
AA sequence altered Yes
Chromosome 19
Strand -1
Original gDNA sequence snippet CCCACCTCAAGCAGGTGAAGAAGGAGGACACCGAGAAGGTG
Altered gDNA sequence snippet CCCACCTCAAGCAGGTGAAGTAGGAGGACACCGAGAAGGTG
Original cDNA sequence snippet CCCACCTCAAGCAGGTGAAGAAGGAGGACACCGAGAAGGAA
Altered cDNA sequence snippet CCCACCTCAAGCAGGTGAAGTAGGAGGACACCGAGAAGGAA
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 KRPTLRRVRI SADAMMQALL GARAKESLDL RAHLKQVK*
Position of stopcodon in wt / mu CDS 426 / 327
Position (AA) of stopcodon in wt / mu AA sequence 142 / 109
Position of stopcodon in wt / mu cDNA 474 / 375
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 325
cDNA position 373
gDNA position 3727
Chromosomal position 55154047
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
Yum, tasty mutations...

MutationT@ster 2025

Variant:

19:55154047T>A_5_ENST00000344887

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: complex_aae
  • Tree vote: 10|0 (del | benign) ?
Analysed issue Analysis result
Variant Chr19:55154047T>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.532A>T
g.3727A>T
AA changes
AAE:K178*E179-D180-T181-E182-K183-E184-N185-R186-E187-V188-G189-D190-W191-R192-K193-N194-I195-D196-A197-L198-S199-G200-M201-E202-G203-R204-K205-K206-K207-F208-E209-S210-*211-?
Score:----------------------------------
Frameshift No
Length of protein Strongly truncated protein, might cause NMD (-33 AA / more than 10% missing)
Pathogenic variant (ClinVar) Variant not listed in ClinVar as (likely) pathogenic.
Variant DBs
Not in dbSNP
Allele 'A' was not found in gnomAD
Protein conservation
SpeciesMatchGeneAAAlignment
Human      178LDLRAHLKQVKKEDTEKENREVGDWRKNIDALSGMEGRKKKFES*
mutated  no alignment    n/a
Ptroglodytes  all conserved    137LDLRAHLKQVKKEDTEKENREVGDWRKNIDALSGMEGRKKKFES
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  partly conserved    179LDLRAHLKQVKKEDIEKENREVGDWRKNIDALSGMEGRKKKFE
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  partly conserved    690EDFRANLKIVKKDVMEAIVNVKKKDDKPDWSKKNKDA
Xtropicalis  partly conserved    204MDLRANLKQVKQTKKDDADKDIREVGDWRKNVDALSGMEGRKKKFESTGAVP
Protein features
Start (aa)End (aa)FeatureDetails 
2210CHAINlost
163188HELIXlost
181181MOD_RESPhosphothreoninelost
199199MOD_RESPhosphoserinelost
Phylogenetic conservation
PhyloPPhastCons
(flanking)7.9261
7.9261
(flanking)6.0881
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 18
Kozak consensus sequence altered? No
poly(A) signal N/A
AA sequence altered Yes
Chromosome 19
Strand -1
Original gDNA sequence snippet CCCACCTCAAGCAGGTGAAGAAGGAGGACACCGAGAAGGTG
Altered gDNA sequence snippet CCCACCTCAAGCAGGTGAAGTAGGAGGACACCGAGAAGGTG
Original cDNA sequence snippet CCCACCTCAAGCAGGTGAAGAAGGAGGACACCGAGAAGGAA
Altered cDNA sequence snippet CCCACCTCAAGCAGGTGAAGTAGGAGGACACCGAGAAGGAA
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 RPTLRRVRIS ADAMMQALLG ARAKESLDLR AHLKQVK*
Position of stopcodon in wt / mu CDS 633 / 534
Position (AA) of stopcodon in wt / mu AA sequence 211 / 178
Position of stopcodon in wt / mu cDNA 776 / 677
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 532
cDNA position 675
gDNA position 3727
Chromosomal position 55154047
Speed 0.06 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:

19:55154047T>A_7_ENST00000588882

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Prediction:

DeleteriousPermalink

Summary:

  • Model: complex_aae
  • Tree vote: 10|0 (del | benign) ?
Analysed issue Analysis result
Variant Chr19:55154047T>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.457A>T
g.3727A>T
AA changes
AAE:K153*E154-D155-T156-E157-K158-E159-N160-R161-E162-V163-G164-D165-W166-R167-K168-N169-I170-D171-A172-L173-S174-G175-M176-E177-G178-R179-K180-K181-K182-F183-E184-S185-*186-?
Score:----------------------------------
Frameshift No
Length of protein Strongly truncated protein, might cause NMD (-33 AA / more than 10% missing)
Pathogenic variant (ClinVar) Variant not listed in ClinVar as (likely) pathogenic.
Variant DBs
Not in dbSNP
Allele 'A' was not found in gnomAD
Protein conservation
SpeciesMatchGeneAAAlignment
Human      153LDLRAHLKQVKKEDTEKENREVGD
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
PhyloPPhastCons
(flanking)7.9261
7.9261
(flanking)6.0881
?
Splice sites No abrogation of potential splice sites predicted by MaxEntScan.
Distance from splice site 18
Kozak consensus sequence altered? No
poly(A) signal N/A
AA sequence altered Yes
Chromosome 19
Strand -1
Original gDNA sequence snippet CCCACCTCAAGCAGGTGAAGAAGGAGGACACCGAGAAGGTG
Altered gDNA sequence snippet CCCACCTCAAGCAGGTGAAGTAGGAGGACACCGAGAAGGTG
Original cDNA sequence snippet CCCACCTCAAGCAGGTGAAGAAGGAGGACACCGAGAAGGAA
Altered cDNA sequence snippet CCCACCTCAAGCAGGTGAAGTAGGAGGACACCGAGAAGGAA
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 RGKFKRPTLR
RVRISADAMM QALLGARAKE SLDLRAHLKQ VK*
Position of stopcodon in wt / mu CDS 558 / 459
Position (AA) of stopcodon in wt / mu AA sequence 186 / 153
Position of stopcodon in wt / mu cDNA 606 / 507
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 457
cDNA position 505
gDNA position 3727
Chromosomal position 55154047
Speed 0.10 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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