Yum, tasty mutations...

MutationTaster - study a chromosomal position

MTQE documentation
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...
found 4 transcript(s)...
Querying Taster for transcript #1: ENST00000392365
Querying Taster for transcript #2: ENST00000409676
Querying Taster for transcript #3: ENST00000339091
Querying Taster for transcript #4: ENST00000233156
MT speed 6.78 s - this script 8.978637 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
TFPIpolymorphism_automatic0.000270235590823953simple_aaeaffectedN221Ssingle base exchangers7586970show file
TFPIpolymorphism_automatic0.000270235590823953simple_aaeaffectedN221Ssingle base exchangers7586970show file
TFPIpolymorphism_automatic0.9999999999519without_aaeaffectedsingle base exchangers7586970show file
TFPIpolymorphism_automatic0.9999999999519without_aaeaffectedsingle base exchangers7586970show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999729764409176 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:188343497T>CN/A show variant in all transcripts   IGV
HGNC symbol TFPI
Ensembl transcript ID ENST00000339091
Genbank transcript ID NM_001032281
UniProt peptide P10646
alteration type single base exchange
alteration region CDS
DNA changes c.662A>G
cDNA.903A>G
g.86991A>G
AA changes N221S Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS
221
frameshift no
known variant Reference ID: rs7586970
databasehomozygous (C/C)heterozygousallele carriers
1000G20410031207
ExAC54652183727302
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.020.998
1.3941
(flanking)1.3241
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased86985wt: 0.32 / mu: 0.98wt: TGGTTGGAAGAATGC
mu: TGGTTGGAAGAGTGC
 GTTG|gaag
distance from splice site 34
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      221VTKEGTNDGWKNAAHIYQVFLNAF
mutated  all conserved    221VTKEGTNDGWKSAAHIYQVFLNA
Ptroglodytes  no alignment  ENSPTRG00000012723  n/a
Mmulatta  no alignment  ENSMMUG00000009448  n/a
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000027082  n/a
Ggallus  no alignment  ENSGALG00000002594  n/a
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
215219STRANDmight get lost (downstream of altered splice site)
217267DOMAINBPTI/Kunitz inhibitor 3.lost
224226STRANDmight get lost (downstream of altered splice site)
226226DISULFIDmight get lost (downstream of altered splice site)
227227MUTAGENR->L: Abolishes inhibition of VII(a)/TF.might get lost (downstream of altered splice site)
227228SITEReactive bond.might get lost (downstream of altered splice site)
232235STRANDmight get lost (downstream of altered splice site)
237239TURNmight get lost (downstream of altered splice site)
241245STRANDmight get lost (downstream of altered splice site)
242242DISULFIDmight get lost (downstream of altered splice site)
250250DISULFIDmight get lost (downstream of altered splice site)
256256SITENot glycosylated.might get lost (downstream of altered splice site)
257260STRANDmight get lost (downstream of altered splice site)
261267HELIXmight get lost (downstream of altered splice site)
263263DISULFIDmight get lost (downstream of altered splice site)
267267DISULFIDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 756 / 756
position (AA) of stopcodon in wt / mu AA sequence 252 / 252
position of stopcodon in wt / mu cDNA 997 / 997
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now
N/A
position of start ATG in wt / mu cDNA 242 / 242
chromosome 2
strand -1
last intron/exon boundary 870
theoretical NMD boundary in CDS 578
length of CDS 756
coding sequence (CDS) position 662
cDNA position
(for ins/del: last normal base / first normal base)
903
gDNA position
(for ins/del: last normal base / first normal base)
86991
chromosomal position
(for ins/del: last normal base / first normal base)
188343497
original gDNA sequence snippet AACAAATGATGGTTGGAAGAATGCGGCTCATATTTACCAAG
altered gDNA sequence snippet AACAAATGATGGTTGGAAGAGTGCGGCTCATATTTACCAAG
original cDNA sequence snippet AACAAATGATGGTTGGAAGAATGCGGCTCATATTTACCAAG
altered cDNA sequence snippet AACAAATGATGGTTGGAAGAGTGCGGCTCATATTTACCAAG
wildtype AA sequence MIYTMKKVHA LWASVCLLLN LAPAPLNADS EEDEEHTIIT DTELPPLKLM HSFCAFKADD
GPCKAIMKRF FFNIFTRQCE EFIYGGCEGN QNRFESLEEC KKMCTRDNAN RIIKTTLQQE
KPDFCFLEED PGICRGYITR YFYNNQTKQC ERFKYGGCLG NMNNFETLEE CKNICEDGPN
GFQVDNYGTQ LNAVNNSLTP QSTKVPSLFV TKEGTNDGWK NAAHIYQVFL NAFCIHASMF
FLGLDSISCL C*
mutated AA sequence MIYTMKKVHA LWASVCLLLN LAPAPLNADS EEDEEHTIIT DTELPPLKLM HSFCAFKADD
GPCKAIMKRF FFNIFTRQCE EFIYGGCEGN QNRFESLEEC KKMCTRDNAN RIIKTTLQQE
KPDFCFLEED PGICRGYITR YFYNNQTKQC ERFKYGGCLG NMNNFETLEE CKNICEDGPN
GFQVDNYGTQ LNAVNNSLTP QSTKVPSLFV TKEGTNDGWK SAAHIYQVFL NAFCIHASMF
FLGLDSISCL C*
speed 1.71 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999729764409176 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:188343497T>CN/A show variant in all transcripts   IGV
HGNC symbol TFPI
Ensembl transcript ID ENST00000409676
Genbank transcript ID N/A
UniProt peptide P10646
alteration type single base exchange
alteration region CDS
DNA changes c.662A>G
cDNA.927A>G
g.86991A>G
AA changes N221S Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS
221
frameshift no
known variant Reference ID: rs7586970
databasehomozygous (C/C)heterozygousallele carriers
1000G20410031207
ExAC54652183727302
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.020.998
1.3941
(flanking)1.3241
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased86985wt: 0.32 / mu: 0.98wt: TGGTTGGAAGAATGC
mu: TGGTTGGAAGAGTGC
 GTTG|gaag
distance from splice site 34
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      221VTKEGTNDGWKNAAHIYQVFLNAF
mutated  all conserved    221VTKEGTNDGWKSAAHIYQVFLNA
Ptroglodytes  no alignment  ENSPTRG00000012723  n/a
Mmulatta  no alignment  ENSMMUG00000009448  n/a
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000027082  n/a
Ggallus  no alignment  ENSGALG00000002594  n/a
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
215219STRANDmight get lost (downstream of altered splice site)
217267DOMAINBPTI/Kunitz inhibitor 3.lost
224226STRANDmight get lost (downstream of altered splice site)
226226DISULFIDmight get lost (downstream of altered splice site)
227227MUTAGENR->L: Abolishes inhibition of VII(a)/TF.might get lost (downstream of altered splice site)
227228SITEReactive bond.might get lost (downstream of altered splice site)
232235STRANDmight get lost (downstream of altered splice site)
237239TURNmight get lost (downstream of altered splice site)
241245STRANDmight get lost (downstream of altered splice site)
242242DISULFIDmight get lost (downstream of altered splice site)
250250DISULFIDmight get lost (downstream of altered splice site)
256256SITENot glycosylated.might get lost (downstream of altered splice site)
257260STRANDmight get lost (downstream of altered splice site)
261267HELIXmight get lost (downstream of altered splice site)
263263DISULFIDmight get lost (downstream of altered splice site)
267267DISULFIDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 756 / 756
position (AA) of stopcodon in wt / mu AA sequence 252 / 252
position of stopcodon in wt / mu cDNA 1021 / 1021
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now
N/A
position of start ATG in wt / mu cDNA 266 / 266
chromosome 2
strand -1
last intron/exon boundary 894
theoretical NMD boundary in CDS 578
length of CDS 756
coding sequence (CDS) position 662
cDNA position
(for ins/del: last normal base / first normal base)
927
gDNA position
(for ins/del: last normal base / first normal base)
86991
chromosomal position
(for ins/del: last normal base / first normal base)
188343497
original gDNA sequence snippet AACAAATGATGGTTGGAAGAATGCGGCTCATATTTACCAAG
altered gDNA sequence snippet AACAAATGATGGTTGGAAGAGTGCGGCTCATATTTACCAAG
original cDNA sequence snippet AACAAATGATGGTTGGAAGAATGCGGCTCATATTTACCAAG
altered cDNA sequence snippet AACAAATGATGGTTGGAAGAGTGCGGCTCATATTTACCAAG
wildtype AA sequence MIYTMKKVHA LWASVCLLLN LAPAPLNADS EEDEEHTIIT DTELPPLKLM HSFCAFKADD
GPCKAIMKRF FFNIFTRQCE EFIYGGCEGN QNRFESLEEC KKMCTRDNAN RIIKTTLQQE
KPDFCFLEED PGICRGYITR YFYNNQTKQC ERFKYGGCLG NMNNFETLEE CKNICEDGPN
GFQVDNYGTQ LNAVNNSLTP QSTKVPSLFV TKEGTNDGWK NAAHIYQVFL NAFCIHASMF
FLGLDSISCL C*
mutated AA sequence MIYTMKKVHA LWASVCLLLN LAPAPLNADS EEDEEHTIIT DTELPPLKLM HSFCAFKADD
GPCKAIMKRF FFNIFTRQCE EFIYGGCEGN QNRFESLEEC KKMCTRDNAN RIIKTTLQQE
KPDFCFLEED PGICRGYITR YFYNNQTKQC ERFKYGGCLG NMNNFETLEE CKNICEDGPN
GFQVDNYGTQ LNAVNNSLTP QSTKVPSLFV TKEGTNDGWK SAAHIYQVFL NAFCIHASMF
FLGLDSISCL C*
speed 2.76 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 4.8099573093386e-11 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:188343497T>CN/A show variant in all transcripts   IGV
HGNC symbol TFPI
Ensembl transcript ID ENST00000233156
Genbank transcript ID NM_006287
UniProt peptide P10646
alteration type single base exchange
alteration region intron
DNA changes g.86991A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS
N/A
frameshift N/A
known variant Reference ID: rs7586970
databasehomozygous (C/C)heterozygousallele carriers
1000G20410031207
ExAC54652183727302
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.020.998
1.3941
(flanking)1.3241
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased86985wt: 0.32 / mu: 0.98wt: TGGTTGGAAGAATGC
mu: TGGTTGGAAGAGTGC
 GTTG|gaag
distance from splice site 5354
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
N/A
protein features
start (aa)end (aa)featuredetails 
215219STRANDmight get lost (downstream of altered splice site)
217217DISULFIDmight get lost (downstream of altered splice site)
217267DOMAINBPTI/Kunitz inhibitor 3.might get lost (downstream of altered splice site)
224226STRANDmight get lost (downstream of altered splice site)
226226DISULFIDmight get lost (downstream of altered splice site)
227227MUTAGENR->L: Abolishes inhibition of VII(a)/TF.might get lost (downstream of altered splice site)
227228SITEReactive bond.might get lost (downstream of altered splice site)
232235STRANDmight get lost (downstream of altered splice site)
237239TURNmight get lost (downstream of altered splice site)
241245STRANDmight get lost (downstream of altered splice site)
242242DISULFIDmight get lost (downstream of altered splice site)
250250DISULFIDmight get lost (downstream of altered splice site)
256256SITENot glycosylated.might get lost (downstream of altered splice site)
257260STRANDmight get lost (downstream of altered splice site)
261267HELIXmight get lost (downstream of altered splice site)
263263DISULFIDmight get lost (downstream of altered splice site)
267267DISULFIDmight get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
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
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now
N/A
position of start ATG in wt / mu cDNA 296 / 296
chromosome 2
strand -1
last intron/exon boundary 1104
theoretical NMD boundary in CDS 758
length of CDS 915
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)
N/A
gDNA position
(for ins/del: last normal base / first normal base)
86991
chromosomal position
(for ins/del: last normal base / first normal base)
188343497
original gDNA sequence snippet AACAAATGATGGTTGGAAGAATGCGGCTCATATTTACCAAG
altered gDNA sequence snippet AACAAATGATGGTTGGAAGAGTGCGGCTCATATTTACCAAG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MIYTMKKVHA LWASVCLLLN LAPAPLNADS EEDEEHTIIT DTELPPLKLM HSFCAFKADD
GPCKAIMKRF FFNIFTRQCE EFIYGGCEGN QNRFESLEEC KKMCTRDNAN RIIKTTLQQE
KPDFCFLEED PGICRGYITR YFYNNQTKQC ERFKYGGCLG NMNNFETLEE CKNICEDGPN
GFQVDNYGTQ LNAVNNSLTP QSTKVPSLFE FHGPSWCLTP ADRGLCRANE NRFYYNSVIG
KCRPFKYSGC GGNENNFTSK QECLRACKKG FIQRISKGGL IKTKRKRKKQ RVKIAYEEIF
VKNM*
mutated AA sequence N/A
speed 0.93 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 4.8099573093386e-11 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:188343497T>CN/A show variant in all transcripts   IGV
HGNC symbol TFPI
Ensembl transcript ID ENST00000392365
Genbank transcript ID N/A
UniProt peptide P10646
alteration type single base exchange
alteration region intron
DNA changes g.86991A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS
N/A
frameshift N/A
known variant Reference ID: rs7586970
databasehomozygous (C/C)heterozygousallele carriers
1000G20410031207
ExAC54652183727302
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.020.998
1.3941
(flanking)1.3241
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased86985wt: 0.32 / mu: 0.98wt: TGGTTGGAAGAATGC
mu: TGGTTGGAAGAGTGC
 GTTG|gaag
distance from splice site 5354
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
N/A
protein features
start (aa)end (aa)featuredetails 
215219STRANDmight get lost (downstream of altered splice site)
217217DISULFIDmight get lost (downstream of altered splice site)
217267DOMAINBPTI/Kunitz inhibitor 3.might get lost (downstream of altered splice site)
224226STRANDmight get lost (downstream of altered splice site)
226226DISULFIDmight get lost (downstream of altered splice site)
227227MUTAGENR->L: Abolishes inhibition of VII(a)/TF.might get lost (downstream of altered splice site)
227228SITEReactive bond.might get lost (downstream of altered splice site)
232235STRANDmight get lost (downstream of altered splice site)
237239TURNmight get lost (downstream of altered splice site)
241245STRANDmight get lost (downstream of altered splice site)
242242DISULFIDmight get lost (downstream of altered splice site)
250250DISULFIDmight get lost (downstream of altered splice site)
256256SITENot glycosylated.might get lost (downstream of altered splice site)
257260STRANDmight get lost (downstream of altered splice site)
261267HELIXmight get lost (downstream of altered splice site)
263263DISULFIDmight get lost (downstream of altered splice site)
267267DISULFIDmight get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
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
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now
N/A
position of start ATG in wt / mu cDNA 29 / 29
chromosome 2
strand -1
last intron/exon boundary 837
theoretical NMD boundary in CDS 758
length of CDS 915
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)
N/A
gDNA position
(for ins/del: last normal base / first normal base)
86991
chromosomal position
(for ins/del: last normal base / first normal base)
188343497
original gDNA sequence snippet AACAAATGATGGTTGGAAGAATGCGGCTCATATTTACCAAG
altered gDNA sequence snippet AACAAATGATGGTTGGAAGAGTGCGGCTCATATTTACCAAG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MIYTMKKVHA LWASVCLLLN LAPAPLNADS EEDEEHTIIT DTELPPLKLM HSFCAFKADD
GPCKAIMKRF FFNIFTRQCE EFIYGGCEGN QNRFESLEEC KKMCTRDNAN RIIKTTLQQE
KPDFCFLEED PGICRGYITR YFYNNQTKQC ERFKYGGCLG NMNNFETLEE CKNICEDGPN
GFQVDNYGTQ LNAVNNSLTP QSTKVPSLFE FHGPSWCLTP ADRGLCRANE NRFYYNSVIG
KCRPFKYSGC GGNENNFTSK QECLRACKKG FIQRISKGGL IKTKRKRKKQ RVKIAYEEIF
VKNM*
mutated AA sequence N/A
speed 1.38 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

Problems