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 8 transcript(s)...
Querying Taster for transcript #1: ENST00000572705
Querying Taster for transcript #2: ENST00000399759
Querying Taster for transcript #3: ENST00000571088
Querying Taster for transcript #4: ENST00000399756
Querying Taster for transcript #5: ENST00000425167
Querying Taster for transcript #6: ENST00000576351
Querying Taster for transcript #7: ENST00000310522
Querying Taster for transcript #8: ENST00000174621
MT speed 0 s - this script 4.101501 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
TRPV1polymorphism_automatic5.62767055178881e-10simple_aaeT469Isingle base exchangers224534show file
TRPV1polymorphism_automatic5.62767055178881e-10simple_aaeT469Isingle base exchangers224534show file
TRPV1polymorphism_automatic5.62767055178881e-10simple_aaeT469Isingle base exchangers224534show file
TRPV1polymorphism_automatic5.62767055178881e-10simple_aaeT459Isingle base exchangers224534show file
TRPV1polymorphism_automatic5.62767055178881e-10simple_aaeT409Isingle base exchangers224534show file
TRPV1polymorphism_automatic5.62767055178881e-10simple_aaeT467Isingle base exchangers224534show file
TRPV1polymorphism_automatic2.74047899928576e-08simple_aaeT480Isingle base exchangers224534show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999437233 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM163259)
  • protein features (might be) affected
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:3486702G>AN/A show variant in all transcripts   IGV
HGNC symbol TRPV1
Ensembl transcript ID ENST00000399759
Genbank transcript ID NM_080705
UniProt peptide Q8NER1
alteration type single base exchange
alteration region CDS
DNA changes c.1406C>T
cDNA.1607C>T
g.13691C>T
AA changes T469I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS
469
frameshift no
known variant Reference ID: rs224534
databasehomozygous (A/A)heterozygousallele carriers
1000G5398151354
ExAC87091534924058

known disease mutation at this position, please check HGMD for details (HGMD ID CM163259)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0410.012
0.50.003
(flanking)1.5550.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      469VDGLPPFKMEKTGDYFRVTGEILS
mutated  not conserved    469VDGLPPFKMEKIGDYFRVTGEIL
Ptroglodytes  all identical  ENSPTRG00000024045  457----PPFKMEKTGDYFRVTGEIL
Mmulatta  all identical  ENSMMUG00000000711  469VDGLPPFKMEKTEDYFRVTGEIL
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000005952  469VEGLPPYKLNNTVGDYFRVTGEI
Ggallus  all identical  ENSGALG00000004649  474VQKGDKPPFAFGHSTGEYFRVTGEIL
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000059883  430EGKDYANQTKPPYLYAKSREGYLLLTGHII
Dmelanogaster  not conserved  FBgn0036414  510YAQCPLMNLESDLAKLRIMAELL
Celegans  not conserved  B0212.5  425TE-LPRLYMEDPQWDDYIR
Xtropicalis  not conserved  ENSXETG00000005790  479VDGSPPFPVQ-PNSYLRTCGELI
protein features
start (aa)end (aa)featuredetails 
455476TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2520 / 2520
position (AA) of stopcodon in wt / mu AA sequence 840 / 840
position of stopcodon in wt / mu cDNA 2721 / 2721
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 202 / 202
chromosome 17
strand -1
last intron/exon boundary 2549
theoretical NMD boundary in CDS 2297
length of CDS 2520
coding sequence (CDS) position 1406
cDNA position
(for ins/del: last normal base / first normal base)
1607
gDNA position
(for ins/del: last normal base / first normal base)
13691
chromosomal position
(for ins/del: last normal base / first normal base)
3486702
original gDNA sequence snippet TCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTA
altered gDNA sequence snippet TCCCTTTAAGATGGAAAAAATTGGAGACTATTTCCGAGTTA
original cDNA sequence snippet TCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTA
altered cDNA sequence snippet TCCCTTTAAGATGGAAAAAATTGGAGACTATTTCCGAGTTA
wildtype AA sequence MKKWSSTDLG AAADPLQKDT CPDPLDGDPN SRPPPAKPQL STAKSRTRLF GKGDSEEAFP
VDCPHEEGEL DSCPTITVSP VITIQRPGDG PTGARLLSQD SVAASTEKTL RLYDRRSIFE
AVAQNNCQDL ESLLLFLQKS KKHLTDNEFK DPETGKTCLL KAMLNLHDGQ NTTIPLLLEI
ARQTDSLKEL VNASYTDSYY KGQTALHIAI ERRNMALVTL LVENGADVQA AAHGDFFKKT
KGRPGFYFGE LPLSLAACTN QLGIVKFLLQ NSWQTADISA RDSVGNTVLH ALVEVADNTA
DNTKFVTSMY NEILMLGAKL HPTLKLEELT NKKGMTPLAL AAGTGKIGVL AYILQREIQE
PECRHLSRKF TEWAYGPVHS SLYDLSCIDT CEKNSVLEVI AYSSSETPNR HDMLLVEPLN
RLLQDKWDRF VKRIFYFNFL VYCLYMIIFT MAAYYRPVDG LPPFKMEKTG DYFRVTGEIL
SVLGGVYFFF RGIQYFLQRR PSMKTLFVDS YSEMLFFLQS LFMLATVVLY FSHLKEYVAS
MVFSLALGWT NMLYYTRGFQ QMGIYAVMIE KMILRDLCRF MFVYIVFLFG FSTAVVTLIE
DGKNDSLPSE STSHRWRGPA CRPPDSSYNS LYSTCLELFK FTIGMGDLEF TENYDFKAVF
IILLLAYVIL TYILLLNMLI ALMGETVNKI AQESKNIWKL QRAITILDTE KSFLKCMRKA
FRSGKLLQVG YTPDGKDDYR WCFRVDEVNW TTWNTNVGII NEDPGNCEGV KRTLSFSLRS
SRVSGRHWKN FALVPLLREA SARDRQSAQP EEVYLRQFSG SLKPEDAEVF KSPAASGEK*
mutated AA sequence MKKWSSTDLG AAADPLQKDT CPDPLDGDPN SRPPPAKPQL STAKSRTRLF GKGDSEEAFP
VDCPHEEGEL DSCPTITVSP VITIQRPGDG PTGARLLSQD SVAASTEKTL RLYDRRSIFE
AVAQNNCQDL ESLLLFLQKS KKHLTDNEFK DPETGKTCLL KAMLNLHDGQ NTTIPLLLEI
ARQTDSLKEL VNASYTDSYY KGQTALHIAI ERRNMALVTL LVENGADVQA AAHGDFFKKT
KGRPGFYFGE LPLSLAACTN QLGIVKFLLQ NSWQTADISA RDSVGNTVLH ALVEVADNTA
DNTKFVTSMY NEILMLGAKL HPTLKLEELT NKKGMTPLAL AAGTGKIGVL AYILQREIQE
PECRHLSRKF TEWAYGPVHS SLYDLSCIDT CEKNSVLEVI AYSSSETPNR HDMLLVEPLN
RLLQDKWDRF VKRIFYFNFL VYCLYMIIFT MAAYYRPVDG LPPFKMEKIG DYFRVTGEIL
SVLGGVYFFF RGIQYFLQRR PSMKTLFVDS YSEMLFFLQS LFMLATVVLY FSHLKEYVAS
MVFSLALGWT NMLYYTRGFQ QMGIYAVMIE KMILRDLCRF MFVYIVFLFG FSTAVVTLIE
DGKNDSLPSE STSHRWRGPA CRPPDSSYNS LYSTCLELFK FTIGMGDLEF TENYDFKAVF
IILLLAYVIL TYILLLNMLI ALMGETVNKI AQESKNIWKL QRAITILDTE KSFLKCMRKA
FRSGKLLQVG YTPDGKDDYR WCFRVDEVNW TTWNTNVGII NEDPGNCEGV KRTLSFSLRS
SRVSGRHWKN FALVPLLREA SARDRQSAQP EEVYLRQFSG SLKPEDAEVF KSPAASGEK*
speed 0.31 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: 0.999999999437233 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM163259)
  • protein features (might be) affected
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:3486702G>AN/A show variant in all transcripts   IGV
HGNC symbol TRPV1
Ensembl transcript ID ENST00000571088
Genbank transcript ID NM_018727
UniProt peptide Q8NER1
alteration type single base exchange
alteration region CDS
DNA changes c.1406C>T
cDNA.1620C>T
g.13691C>T
AA changes T469I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS
469
frameshift no
known variant Reference ID: rs224534
databasehomozygous (A/A)heterozygousallele carriers
1000G5398151354
ExAC87091534924058

known disease mutation at this position, please check HGMD for details (HGMD ID CM163259)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0410.012
0.50.003
(flanking)1.5550.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      469VDGLPPFKMEKTGDYFRVTGEILS
mutated  not conserved    469VDGLPPFKMEKIGDYFRVTGEIL
Ptroglodytes  all identical  ENSPTRG00000024045  457----PPFKMEKTGDYFRVTGEIL
Mmulatta  all identical  ENSMMUG00000000711  469VDGLPPFKMEKTEDYFRVTGEIL
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000005952  469VEGLPPYKLNNTVGDYFRVTGEI
Ggallus  all identical  ENSGALG00000004649  474VQKGDKPPFAFGHSTGEYFRVTGEIL
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000059883  430EGKDYANQTKPPYLYAKSREGYLLLTGHII
Dmelanogaster  not conserved  FBgn0036414  510YAQCPLMNLESDLAKLRIMAELL
Celegans  not conserved  B0212.5  425TE-LPRLYMEDPQWDDYIR
Xtropicalis  not conserved  ENSXETG00000005790  479VDGSPPFPVQ-PNSYLRTCGELI
protein features
start (aa)end (aa)featuredetails 
455476TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2520 / 2520
position (AA) of stopcodon in wt / mu AA sequence 840 / 840
position of stopcodon in wt / mu cDNA 2734 / 2734
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 215 / 215
chromosome 17
strand -1
last intron/exon boundary 2562
theoretical NMD boundary in CDS 2297
length of CDS 2520
coding sequence (CDS) position 1406
cDNA position
(for ins/del: last normal base / first normal base)
1620
gDNA position
(for ins/del: last normal base / first normal base)
13691
chromosomal position
(for ins/del: last normal base / first normal base)
3486702
original gDNA sequence snippet TCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTA
altered gDNA sequence snippet TCCCTTTAAGATGGAAAAAATTGGAGACTATTTCCGAGTTA
original cDNA sequence snippet TCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTA
altered cDNA sequence snippet TCCCTTTAAGATGGAAAAAATTGGAGACTATTTCCGAGTTA
wildtype AA sequence MKKWSSTDLG AAADPLQKDT CPDPLDGDPN SRPPPAKPQL STAKSRTRLF GKGDSEEAFP
VDCPHEEGEL DSCPTITVSP VITIQRPGDG PTGARLLSQD SVAASTEKTL RLYDRRSIFE
AVAQNNCQDL ESLLLFLQKS KKHLTDNEFK DPETGKTCLL KAMLNLHDGQ NTTIPLLLEI
ARQTDSLKEL VNASYTDSYY KGQTALHIAI ERRNMALVTL LVENGADVQA AAHGDFFKKT
KGRPGFYFGE LPLSLAACTN QLGIVKFLLQ NSWQTADISA RDSVGNTVLH ALVEVADNTA
DNTKFVTSMY NEILMLGAKL HPTLKLEELT NKKGMTPLAL AAGTGKIGVL AYILQREIQE
PECRHLSRKF TEWAYGPVHS SLYDLSCIDT CEKNSVLEVI AYSSSETPNR HDMLLVEPLN
RLLQDKWDRF VKRIFYFNFL VYCLYMIIFT MAAYYRPVDG LPPFKMEKTG DYFRVTGEIL
SVLGGVYFFF RGIQYFLQRR PSMKTLFVDS YSEMLFFLQS LFMLATVVLY FSHLKEYVAS
MVFSLALGWT NMLYYTRGFQ QMGIYAVMIE KMILRDLCRF MFVYIVFLFG FSTAVVTLIE
DGKNDSLPSE STSHRWRGPA CRPPDSSYNS LYSTCLELFK FTIGMGDLEF TENYDFKAVF
IILLLAYVIL TYILLLNMLI ALMGETVNKI AQESKNIWKL QRAITILDTE KSFLKCMRKA
FRSGKLLQVG YTPDGKDDYR WCFRVDEVNW TTWNTNVGII NEDPGNCEGV KRTLSFSLRS
SRVSGRHWKN FALVPLLREA SARDRQSAQP EEVYLRQFSG SLKPEDAEVF KSPAASGEK*
mutated AA sequence MKKWSSTDLG AAADPLQKDT CPDPLDGDPN SRPPPAKPQL STAKSRTRLF GKGDSEEAFP
VDCPHEEGEL DSCPTITVSP VITIQRPGDG PTGARLLSQD SVAASTEKTL RLYDRRSIFE
AVAQNNCQDL ESLLLFLQKS KKHLTDNEFK DPETGKTCLL KAMLNLHDGQ NTTIPLLLEI
ARQTDSLKEL VNASYTDSYY KGQTALHIAI ERRNMALVTL LVENGADVQA AAHGDFFKKT
KGRPGFYFGE LPLSLAACTN QLGIVKFLLQ NSWQTADISA RDSVGNTVLH ALVEVADNTA
DNTKFVTSMY NEILMLGAKL HPTLKLEELT NKKGMTPLAL AAGTGKIGVL AYILQREIQE
PECRHLSRKF TEWAYGPVHS SLYDLSCIDT CEKNSVLEVI AYSSSETPNR HDMLLVEPLN
RLLQDKWDRF VKRIFYFNFL VYCLYMIIFT MAAYYRPVDG LPPFKMEKIG DYFRVTGEIL
SVLGGVYFFF RGIQYFLQRR PSMKTLFVDS YSEMLFFLQS LFMLATVVLY FSHLKEYVAS
MVFSLALGWT NMLYYTRGFQ QMGIYAVMIE KMILRDLCRF MFVYIVFLFG FSTAVVTLIE
DGKNDSLPSE STSHRWRGPA CRPPDSSYNS LYSTCLELFK FTIGMGDLEF TENYDFKAVF
IILLLAYVIL TYILLLNMLI ALMGETVNKI AQESKNIWKL QRAITILDTE KSFLKCMRKA
FRSGKLLQVG YTPDGKDDYR WCFRVDEVNW TTWNTNVGII NEDPGNCEGV KRTLSFSLRS
SRVSGRHWKN FALVPLLREA SARDRQSAQP EEVYLRQFSG SLKPEDAEVF KSPAASGEK*
speed 0.33 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: 0.999999999437233 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM163259)
  • protein features (might be) affected
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:3486702G>AN/A show variant in all transcripts   IGV
HGNC symbol TRPV1
Ensembl transcript ID ENST00000399756
Genbank transcript ID NM_080706
UniProt peptide Q8NER1
alteration type single base exchange
alteration region CDS
DNA changes c.1406C>T
cDNA.1933C>T
g.13691C>T
AA changes T469I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS
469
frameshift no
known variant Reference ID: rs224534
databasehomozygous (A/A)heterozygousallele carriers
1000G5398151354
ExAC87091534924058

known disease mutation at this position, please check HGMD for details (HGMD ID CM163259)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0410.012
0.50.003
(flanking)1.5550.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      469VDGLPPFKMEKTGDYFRVTGEILS
mutated  not conserved    469VDGLPPFKMEKIGDYFRVTGEIL
Ptroglodytes  all identical  ENSPTRG00000024045  457----PPFKMEKTGDYFRVTGEIL
Mmulatta  all identical  ENSMMUG00000000711  469VDGLPPFKMEKTEDYFRVTGEIL
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000005952  469VEGLPPYKLNNTVGDYFRVTGEI
Ggallus  all identical  ENSGALG00000004649  474VQKGDKPPFAFGHSTGEYFRVTGEIL
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000059883  430EGKDYANQTKPPYLYAKSREGYLLLTGHII
Dmelanogaster  not conserved  FBgn0036414  510YAQCPLMNLESDLAKLRIMAELL
Celegans  not conserved  B0212.5  425TE-LPRLYMEDPQWDDYIR
Xtropicalis  not conserved  ENSXETG00000005790  479VDGSPPFPVQ-PNSYLRTCGELI
protein features
start (aa)end (aa)featuredetails 
455476TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2520 / 2520
position (AA) of stopcodon in wt / mu AA sequence 840 / 840
position of stopcodon in wt / mu cDNA 3047 / 3047
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 528 / 528
chromosome 17
strand -1
last intron/exon boundary 2875
theoretical NMD boundary in CDS 2297
length of CDS 2520
coding sequence (CDS) position 1406
cDNA position
(for ins/del: last normal base / first normal base)
1933
gDNA position
(for ins/del: last normal base / first normal base)
13691
chromosomal position
(for ins/del: last normal base / first normal base)
3486702
original gDNA sequence snippet TCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTA
altered gDNA sequence snippet TCCCTTTAAGATGGAAAAAATTGGAGACTATTTCCGAGTTA
original cDNA sequence snippet TCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTA
altered cDNA sequence snippet TCCCTTTAAGATGGAAAAAATTGGAGACTATTTCCGAGTTA
wildtype AA sequence MKKWSSTDLG AAADPLQKDT CPDPLDGDPN SRPPPAKPQL STAKSRTRLF GKGDSEEAFP
VDCPHEEGEL DSCPTITVSP VITIQRPGDG PTGARLLSQD SVAASTEKTL RLYDRRSIFE
AVAQNNCQDL ESLLLFLQKS KKHLTDNEFK DPETGKTCLL KAMLNLHDGQ NTTIPLLLEI
ARQTDSLKEL VNASYTDSYY KGQTALHIAI ERRNMALVTL LVENGADVQA AAHGDFFKKT
KGRPGFYFGE LPLSLAACTN QLGIVKFLLQ NSWQTADISA RDSVGNTVLH ALVEVADNTA
DNTKFVTSMY NEILMLGAKL HPTLKLEELT NKKGMTPLAL AAGTGKIGVL AYILQREIQE
PECRHLSRKF TEWAYGPVHS SLYDLSCIDT CEKNSVLEVI AYSSSETPNR HDMLLVEPLN
RLLQDKWDRF VKRIFYFNFL VYCLYMIIFT MAAYYRPVDG LPPFKMEKTG DYFRVTGEIL
SVLGGVYFFF RGIQYFLQRR PSMKTLFVDS YSEMLFFLQS LFMLATVVLY FSHLKEYVAS
MVFSLALGWT NMLYYTRGFQ QMGIYAVMIE KMILRDLCRF MFVYIVFLFG FSTAVVTLIE
DGKNDSLPSE STSHRWRGPA CRPPDSSYNS LYSTCLELFK FTIGMGDLEF TENYDFKAVF
IILLLAYVIL TYILLLNMLI ALMGETVNKI AQESKNIWKL QRAITILDTE KSFLKCMRKA
FRSGKLLQVG YTPDGKDDYR WCFRVDEVNW TTWNTNVGII NEDPGNCEGV KRTLSFSLRS
SRVSGRHWKN FALVPLLREA SARDRQSAQP EEVYLRQFSG SLKPEDAEVF KSPAASGEK*
mutated AA sequence MKKWSSTDLG AAADPLQKDT CPDPLDGDPN SRPPPAKPQL STAKSRTRLF GKGDSEEAFP
VDCPHEEGEL DSCPTITVSP VITIQRPGDG PTGARLLSQD SVAASTEKTL RLYDRRSIFE
AVAQNNCQDL ESLLLFLQKS KKHLTDNEFK DPETGKTCLL KAMLNLHDGQ NTTIPLLLEI
ARQTDSLKEL VNASYTDSYY KGQTALHIAI ERRNMALVTL LVENGADVQA AAHGDFFKKT
KGRPGFYFGE LPLSLAACTN QLGIVKFLLQ NSWQTADISA RDSVGNTVLH ALVEVADNTA
DNTKFVTSMY NEILMLGAKL HPTLKLEELT NKKGMTPLAL AAGTGKIGVL AYILQREIQE
PECRHLSRKF TEWAYGPVHS SLYDLSCIDT CEKNSVLEVI AYSSSETPNR HDMLLVEPLN
RLLQDKWDRF VKRIFYFNFL VYCLYMIIFT MAAYYRPVDG LPPFKMEKIG DYFRVTGEIL
SVLGGVYFFF RGIQYFLQRR PSMKTLFVDS YSEMLFFLQS LFMLATVVLY FSHLKEYVAS
MVFSLALGWT NMLYYTRGFQ QMGIYAVMIE KMILRDLCRF MFVYIVFLFG FSTAVVTLIE
DGKNDSLPSE STSHRWRGPA CRPPDSSYNS LYSTCLELFK FTIGMGDLEF TENYDFKAVF
IILLLAYVIL TYILLLNMLI ALMGETVNKI AQESKNIWKL QRAITILDTE KSFLKCMRKA
FRSGKLLQVG YTPDGKDDYR WCFRVDEVNW TTWNTNVGII NEDPGNCEGV KRTLSFSLRS
SRVSGRHWKN FALVPLLREA SARDRQSAQP EEVYLRQFSG SLKPEDAEVF KSPAASGEK*
speed 0.79 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: 0.999999999437233 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM163259)
  • protein features (might be) affected
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:3486702G>AN/A show variant in all transcripts   IGV
HGNC symbol TRPV1
Ensembl transcript ID ENST00000576351
Genbank transcript ID N/A
UniProt peptide Q8NER1
alteration type single base exchange
alteration region CDS
DNA changes c.1376C>T
cDNA.1409C>T
g.13691C>T
AA changes T459I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS
459
frameshift no
known variant Reference ID: rs224534
databasehomozygous (A/A)heterozygousallele carriers
1000G5398151354
ExAC87091534924058

known disease mutation at this position, please check HGMD for details (HGMD ID CM163259)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0410.012
0.50.003
(flanking)1.5550.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      459VDGLPPFKMEKTGDYFRVTGEILS
mutated  not conserved    459VDGLPPFKMEKIGDYFRVTGEIL
Ptroglodytes  all identical  ENSPTRG00000024045  437SETPPPFKMEKTGDYFRVTGEIL
Mmulatta  all identical  ENSMMUG00000000711  469VDGLPPFKMEKTEDYFRVTGEIL
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000005952  469VEGLPPYKLNNTVGDYFRVTGEI
Ggallus  all identical  ENSGALG00000004649  474VQKGDKPPFAFGHSTGEYFRVTGEIL
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000059883  430EGKDYANQTKPPYLYAKSREGYLLLTGHII
Dmelanogaster  not conserved  FBgn0036414  510YAQCPLMNLESDLAKLRIMAELL
Celegans  not conserved  B0212.5  425TE-LPRLYMEDPQWDDYIR
Xtropicalis  not conserved  ENSXETG00000005790  479VDGSPPFPVQ-PNSYLRTCGELI
protein features
start (aa)end (aa)featuredetails 
455476TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2490 / 2490
position (AA) of stopcodon in wt / mu AA sequence 830 / 830
position of stopcodon in wt / mu cDNA 2523 / 2523
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 34 / 34
chromosome 17
strand -1
last intron/exon boundary 2351
theoretical NMD boundary in CDS 2267
length of CDS 2490
coding sequence (CDS) position 1376
cDNA position
(for ins/del: last normal base / first normal base)
1409
gDNA position
(for ins/del: last normal base / first normal base)
13691
chromosomal position
(for ins/del: last normal base / first normal base)
3486702
original gDNA sequence snippet TCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTA
altered gDNA sequence snippet TCCCTTTAAGATGGAAAAAATTGGAGACTATTTCCGAGTTA
original cDNA sequence snippet TCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTA
altered cDNA sequence snippet TCCCTTTAAGATGGAAAAAATTGGAGACTATTTCCGAGTTA
wildtype AA sequence MKKWSSTDLG AAADPLQKDT CPDPLDGDPN SRPPPAKPQL STAKSRTRLF GKGDSEEAFP
VDCPHEEGEL DSCPTITVSP VITIQRPGDG PTGARLLSQD SVAASTEKTL RLYDRRSIFE
AVAQNNCQDL ESLLLFLQKS KKHLTDNEFK DPETGKTCLL KAMLNLHDGQ NTTIPLLLEI
ARQTDSLKEL VNASYTDSYY KGQTALHIAI ERRNMALVTL LVENGADVQA AAHGDFFKKT
KGRPGFYFGE LPLSLAACTN QLGIVKFLLQ NSWQTADISA RDSVGNTVLH ALVEVADNTA
DNTKFVTSMY NEILMLGAKL HPTLKLEELT NKKGMTPLAL AAGTGKIGVL AYILQREIQE
PECRHLSRKF TEWAYGPVHS SLYDLSCIDT CEKNSVLENR HDMLLVEPLN RLLQDKWDRF
VKRIFYFNFL VYCLYMIIFT MAAYYRPVDG LPPFKMEKTG DYFRVTGEIL SVLGGVYFFF
RGIQYFLQRR PSMKTLFVDS YSEMLFFLQS LFMLATVVLY FSHLKEYVAS MVFSLALGWT
NMLYYTRGFQ QMGIYAVMIE KMILRDLCRF MFVYIVFLFG FSTAVVTLIE DGKNDSLPSE
STSHRWRGPA CRPPDSSYNS LYSTCLELFK FTIGMGDLEF TENYDFKAVF IILLLAYVIL
TYILLLNMLI ALMGETVNKI AQESKNIWKL QRAITILDTE KSFLKCMRKA FRSGKLLQVG
YTPDGKDDYR WCFRVDEVNW TTWNTNVGII NEDPGNCEGV KRTLSFSLRS SRVSGRHWKN
FALVPLLREA SARDRQSAQP EEVYLRQFSG SLKPEDAEVF KSPAASGEK*
mutated AA sequence MKKWSSTDLG AAADPLQKDT CPDPLDGDPN SRPPPAKPQL STAKSRTRLF GKGDSEEAFP
VDCPHEEGEL DSCPTITVSP VITIQRPGDG PTGARLLSQD SVAASTEKTL RLYDRRSIFE
AVAQNNCQDL ESLLLFLQKS KKHLTDNEFK DPETGKTCLL KAMLNLHDGQ NTTIPLLLEI
ARQTDSLKEL VNASYTDSYY KGQTALHIAI ERRNMALVTL LVENGADVQA AAHGDFFKKT
KGRPGFYFGE LPLSLAACTN QLGIVKFLLQ NSWQTADISA RDSVGNTVLH ALVEVADNTA
DNTKFVTSMY NEILMLGAKL HPTLKLEELT NKKGMTPLAL AAGTGKIGVL AYILQREIQE
PECRHLSRKF TEWAYGPVHS SLYDLSCIDT CEKNSVLENR HDMLLVEPLN RLLQDKWDRF
VKRIFYFNFL VYCLYMIIFT MAAYYRPVDG LPPFKMEKIG DYFRVTGEIL SVLGGVYFFF
RGIQYFLQRR PSMKTLFVDS YSEMLFFLQS LFMLATVVLY FSHLKEYVAS MVFSLALGWT
NMLYYTRGFQ QMGIYAVMIE KMILRDLCRF MFVYIVFLFG FSTAVVTLIE DGKNDSLPSE
STSHRWRGPA CRPPDSSYNS LYSTCLELFK FTIGMGDLEF TENYDFKAVF IILLLAYVIL
TYILLLNMLI ALMGETVNKI AQESKNIWKL QRAITILDTE KSFLKCMRKA FRSGKLLQVG
YTPDGKDDYR WCFRVDEVNW TTWNTNVGII NEDPGNCEGV KRTLSFSLRS SRVSGRHWKN
FALVPLLREA SARDRQSAQP EEVYLRQFSG SLKPEDAEVF KSPAASGEK*
speed 0.32 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: 0.999999999437233 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM163259)
  • protein features (might be) affected
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:3486702G>AN/A show variant in all transcripts   IGV
HGNC symbol TRPV1
Ensembl transcript ID ENST00000310522
Genbank transcript ID N/A
UniProt peptide Q8NER1
alteration type single base exchange
alteration region CDS
DNA changes c.1226C>T
cDNA.1226C>T
g.13691C>T
AA changes T409I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS
409
frameshift no
known variant Reference ID: rs224534
databasehomozygous (A/A)heterozygousallele carriers
1000G5398151354
ExAC87091534924058

known disease mutation at this position, please check HGMD for details (HGMD ID CM163259)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0410.012
0.50.003
(flanking)1.5550.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      409VDGLPPFKMEKTGDYFRVTGEILS
mutated  not conserved    409VDGLPPFKMEKIGDYFRVTGEIL
Ptroglodytes  all identical  ENSPTRG00000024045  412SETPPPFKMEKTGDY
Mmulatta  all identical  ENSMMUG00000000711  469VDGLPPFKMEKTEDYFRVTGEIL
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000005952  469NNTVGDYFRVTGEIL
Ggallus  all identical  ENSGALG00000004649  474VQKGDKPPFAFGHSTGEYFRVTGEIL
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000059883  430EGKDYANQTKPPYLYAKSREGYLLLTGHII
Dmelanogaster  not conserved  FBgn0036414  510YAQCPLMNLESDLAKLRIMAELL
Celegans  not conserved  B0212.5  425TE-LPRLYMEDPQWDDYIRTACELL
Xtropicalis  not conserved  ENSXETG00000005790  479VDGSPPFPVQPNS-YLRTCGELI
protein features
start (aa)end (aa)featuredetails 
1433TOPO_DOMCytoplasmic (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2340 / 2340
position (AA) of stopcodon in wt / mu AA sequence 780 / 780
position of stopcodon in wt / mu cDNA 2340 / 2340
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 1 / 1
chromosome 17
strand -1
last intron/exon boundary 2168
theoretical NMD boundary in CDS 2117
length of CDS 2340
coding sequence (CDS) position 1226
cDNA position
(for ins/del: last normal base / first normal base)
1226
gDNA position
(for ins/del: last normal base / first normal base)
13691
chromosomal position
(for ins/del: last normal base / first normal base)
3486702
original gDNA sequence snippet TCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTA
altered gDNA sequence snippet TCCCTTTAAGATGGAAAAAATTGGAGACTATTTCCGAGTTA
original cDNA sequence snippet TCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTA
altered cDNA sequence snippet TCCCTTTAAGATGGAAAAAATTGGAGACTATTTCCGAGTTA
wildtype AA sequence MKKWSSTDLG AAADPLQKDT CPDPLDGDPN SRPPPAKPQL STAKSRTRLF GKGDSEEAFP
VDCPHEEGEL DSCPTITVSP VITIQRPGDG PTGARLLSQD SVAASTEKTL RLYDRRSIFE
AVAQNNCQDL ESLLLFLQKS KKHLTDNEFK DPETGKTCLL KAMLNLHDGQ NTTIPLLLEI
ARQTDSLKEL VNASYTDSYY KGQTALHIAI ERRNMALVTL LVENGADVQA AAHGDFFKKT
KGRPGFYFGE LPLSLAACTN QLGIVKFLLQ NSWQTADISA RDSVGNTVLH ALVEVADNTA
DNTKFVTSMY NEILMLGAKL HPTLKLEELT NKKGMTPLAL AAGTGKIGNR HDMLLVEPLN
RLLQDKWDRF VKRIFYFNFL VYCLYMIIFT MAAYYRPVDG LPPFKMEKTG DYFRVTGEIL
SVLGGVYFFF RGIQYFLQRR PSMKTLFVDS YSEMLFFLQS LFMLATVVLY FSHLKEYVAS
MVFSLALGWT NMLYYTRGFQ QMGIYAVMIE KMILRDLCRF MFVYIVFLFG FSTAVVTLIE
DGKNDSLPSE STSHRWRGPA CRPPDSSYNS LYSTCLELFK FTIGMGDLEF TENYDFKAVF
IILLLAYVIL TYILLLNMLI ALMGETVNKI AQESKNIWKL QRAITILDTE KSFLKCMRKA
FRSGKLLQVG YTPDGKDDYR WCFRVDEVNW TTWNTNVGII NEDPGNCEGV KRTLSFSLRS
SRVSGRHWKN FALVPLLREA SARDRQSAQP EEVYLRQFSG SLKPEDAEVF KSPAASGEK*
mutated AA sequence MKKWSSTDLG AAADPLQKDT CPDPLDGDPN SRPPPAKPQL STAKSRTRLF GKGDSEEAFP
VDCPHEEGEL DSCPTITVSP VITIQRPGDG PTGARLLSQD SVAASTEKTL RLYDRRSIFE
AVAQNNCQDL ESLLLFLQKS KKHLTDNEFK DPETGKTCLL KAMLNLHDGQ NTTIPLLLEI
ARQTDSLKEL VNASYTDSYY KGQTALHIAI ERRNMALVTL LVENGADVQA AAHGDFFKKT
KGRPGFYFGE LPLSLAACTN QLGIVKFLLQ NSWQTADISA RDSVGNTVLH ALVEVADNTA
DNTKFVTSMY NEILMLGAKL HPTLKLEELT NKKGMTPLAL AAGTGKIGNR HDMLLVEPLN
RLLQDKWDRF VKRIFYFNFL VYCLYMIIFT MAAYYRPVDG LPPFKMEKIG DYFRVTGEIL
SVLGGVYFFF RGIQYFLQRR PSMKTLFVDS YSEMLFFLQS LFMLATVVLY FSHLKEYVAS
MVFSLALGWT NMLYYTRGFQ QMGIYAVMIE KMILRDLCRF MFVYIVFLFG FSTAVVTLIE
DGKNDSLPSE STSHRWRGPA CRPPDSSYNS LYSTCLELFK FTIGMGDLEF TENYDFKAVF
IILLLAYVIL TYILLLNMLI ALMGETVNKI AQESKNIWKL QRAITILDTE KSFLKCMRKA
FRSGKLLQVG YTPDGKDDYR WCFRVDEVNW TTWNTNVGII NEDPGNCEGV KRTLSFSLRS
SRVSGRHWKN FALVPLLREA SARDRQSAQP EEVYLRQFSG SLKPEDAEVF KSPAASGEK*
speed 0.32 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: 0.999999999437233 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM163259)
  • protein features (might be) affected
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:3486702G>AN/A show variant in all transcripts   IGV
HGNC symbol TRPV1
Ensembl transcript ID ENST00000174621
Genbank transcript ID N/A
UniProt peptide Q8NER1
alteration type single base exchange
alteration region CDS
DNA changes c.1400C>T
cDNA.1690C>T
g.13691C>T
AA changes T467I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS
467
frameshift no
known variant Reference ID: rs224534
databasehomozygous (A/A)heterozygousallele carriers
1000G5398151354
ExAC87091534924058

known disease mutation at this position, please check HGMD for details (HGMD ID CM163259)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0410.012
0.50.003
(flanking)1.5550.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      467VDGLPPFKMEKTGDYFRVTGEILS
mutated  not conserved    467VDGLPPFKMEKIGDYFRVTGEIL
Ptroglodytes  all identical  ENSPTRG00000024045  427----PPFKMEKTGDYFRVTGEIL
Mmulatta  all identical  ENSMMUG00000000711  469VDGLPPFKMEKTEDYFRVTGEIL
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000005952  469VEGLPPYKLNNTVGDYFRVTGEIL
Ggallus  all identical  ENSGALG00000004649  474VQKGDKPPFAFGHSTGEYFRVTGEIL
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000059883  430EGKDYANQTKPPYLYAKSREGYLLLTGHII
Dmelanogaster  not conserved  FBgn0036414  510YAQCPLMNLESDLAKLRIMAELL
Celegans  not conserved  B0212.5  425TE-LPRLYMEDPQWDDYIR
Xtropicalis  not conserved  ENSXETG00000005790  479VDGSPPFPVQ-PNSYLRTCGELI
protein features
start (aa)end (aa)featuredetails 
455476TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2514 / 2514
position (AA) of stopcodon in wt / mu AA sequence 838 / 838
position of stopcodon in wt / mu cDNA 2804 / 2804
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 291 / 291
chromosome 17
strand -1
last intron/exon boundary 2632
theoretical NMD boundary in CDS 2291
length of CDS 2514
coding sequence (CDS) position 1400
cDNA position
(for ins/del: last normal base / first normal base)
1690
gDNA position
(for ins/del: last normal base / first normal base)
13691
chromosomal position
(for ins/del: last normal base / first normal base)
3486702
original gDNA sequence snippet TCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTA
altered gDNA sequence snippet TCCCTTTAAGATGGAAAAAATTGGAGACTATTTCCGAGTTA
original cDNA sequence snippet TCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTA
altered cDNA sequence snippet TCCCTTTAAGATGGAAAAAATTGGAGACTATTTCCGAGTTA
wildtype AA sequence METLTPGHLQ PSPSSPRPRA APGSLGRVTR RRLSRWIALT RKVSWTPARP SQSALLSPSR
GQETAPPVPG CCPRTLSPPA PRRPSGSMIA GVSLKPLLRI TARIWRACCS SCRRARSTSQ
TTSSKVAPAL GSGRAPALAC PDPPLCLSDP ETGKTCLLKA MLNLHDGQNT TIPLLLEIAR
QTDSLKELVN ASYTDSYYKG QTALHIAIER RNMALVTLLV ENGADVQAAA HGDFFKKTKG
RPGFYFGELP LSLAACTNQL GIVKFLLQNS WQTADISARD SVGNTVLHAL VEVADNTADN
TKFVTSMYNE ILMLGAKLHP TLKLEELTNK KGMTPLALAA GTGKIGVLAY ILQREIQEPE
CRHLSRKFTE WAYGPVHSSL YDLSCIDTCE KNSVLEVIAY SSSETPNRHD MLLVEPLNRL
LQDKWDRFVK RIFYFNFLVY CLYMIIFTMA AYYRPVDGLP PFKMEKTGDY FRVTGEILSV
LGGVYFFFRG IQYFLQRRPS MKTLFVDSYS EMLFFLQSLF MLATVVLYFS HLKEYVASMV
FSLALGWTNM LYYTRGFQQM GIYAVMIEKM ILRDLCRFMF VYIVFLFGFS TAVVTLIEDG
KNDSLPSEST SHRWRGPACR PPDSSYNSLY STCLELFKFT IGMGDLEFTE NYDFKAVFII
LLLAYVILTY ILLLNMLIAL MGETVNKIAQ ESKNIWKLQR AITILDTEKS FLKCMRKAFR
SGKLLQVGYT PDGKDDYRWC FRVDEVNWTT WNTNVGIINE DPGNCEGVKR TLSFSLRSSR
VSGRHWKNFA LVPLLREASA RDRQSAQPEE VYLRQFSGSL KPEDAEVFKS PAASGEK*
mutated AA sequence METLTPGHLQ PSPSSPRPRA APGSLGRVTR RRLSRWIALT RKVSWTPARP SQSALLSPSR
GQETAPPVPG CCPRTLSPPA PRRPSGSMIA GVSLKPLLRI TARIWRACCS SCRRARSTSQ
TTSSKVAPAL GSGRAPALAC PDPPLCLSDP ETGKTCLLKA MLNLHDGQNT TIPLLLEIAR
QTDSLKELVN ASYTDSYYKG QTALHIAIER RNMALVTLLV ENGADVQAAA HGDFFKKTKG
RPGFYFGELP LSLAACTNQL GIVKFLLQNS WQTADISARD SVGNTVLHAL VEVADNTADN
TKFVTSMYNE ILMLGAKLHP TLKLEELTNK KGMTPLALAA GTGKIGVLAY ILQREIQEPE
CRHLSRKFTE WAYGPVHSSL YDLSCIDTCE KNSVLEVIAY SSSETPNRHD MLLVEPLNRL
LQDKWDRFVK RIFYFNFLVY CLYMIIFTMA AYYRPVDGLP PFKMEKIGDY FRVTGEILSV
LGGVYFFFRG IQYFLQRRPS MKTLFVDSYS EMLFFLQSLF MLATVVLYFS HLKEYVASMV
FSLALGWTNM LYYTRGFQQM GIYAVMIEKM ILRDLCRFMF VYIVFLFGFS TAVVTLIEDG
KNDSLPSEST SHRWRGPACR PPDSSYNSLY STCLELFKFT IGMGDLEFTE NYDFKAVFII
LLLAYVILTY ILLLNMLIAL MGETVNKIAQ ESKNIWKLQR AITILDTEKS FLKCMRKAFR
SGKLLQVGYT PDGKDDYRWC FRVDEVNWTT WNTNVGIINE DPGNCEGVKR TLSFSLRSSR
VSGRHWKNFA LVPLLREASA RDRQSAQPEE VYLRQFSGSL KPEDAEVFKS PAASGEK*
speed 0.33 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: 0.99999997259521 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM163259)
  • protein features (might be) affected
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:3486702G>AN/A show variant in all transcripts   IGV
HGNC symbol TRPV1
Ensembl transcript ID ENST00000425167
Genbank transcript ID N/A
UniProt peptide Q8NER1
alteration type single base exchange
alteration region CDS
DNA changes c.1439C>T
cDNA.1456C>T
g.13691C>T
AA changes T480I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS
480
frameshift no
known variant Reference ID: rs224534
databasehomozygous (A/A)heterozygousallele carriers
1000G5398151354
ExAC87091534924058

known disease mutation at this position, please check HGMD for details (HGMD ID CM163259)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0410.012
0.50.003
(flanking)1.5550.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      480VDGLPPFKMEKTGDYFRVTGEILS
mutated  not conserved    480VDGLPPFKMEKIGDYFRVTGEIL
Ptroglodytes  all identical  ENSPTRG00000024045  468----PPFKMEKTGDYFRVTGEIL
Mmulatta  all identical  ENSMMUG00000000711  469VDGLPPFKMEKTEDYFRVTGEIL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000005952  469VEGLPPYKLNNTVGDYFRVTGEI
Ggallus  all identical  ENSGALG00000004649  474VQKGDKPPFAFGHSTGEYFRVTGEIL
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000059883  430EGKDYANQTKPPYLYAKSREGYLLLTGHI
Dmelanogaster  not conserved  FBgn0036414  510YAQCPLMNLESDLAKLRIMAELL
Celegans  not conserved  B0212.5  424MEDPQWDDYIRTACELL
Xtropicalis  not conserved  ENSXETG00000005790  479VDGSPPFPVQ-PNSYLRTCGELI
protein features
start (aa)end (aa)featuredetails 
477497TRANSMEMHelical; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2553 / 2553
position (AA) of stopcodon in wt / mu AA sequence 851 / 851
position of stopcodon in wt / mu cDNA 2570 / 2570
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 18 / 18
chromosome 17
strand -1
last intron/exon boundary 2398
theoretical NMD boundary in CDS 2330
length of CDS 2553
coding sequence (CDS) position 1439
cDNA position
(for ins/del: last normal base / first normal base)
1456
gDNA position
(for ins/del: last normal base / first normal base)
13691
chromosomal position
(for ins/del: last normal base / first normal base)
3486702
original gDNA sequence snippet TCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTA
altered gDNA sequence snippet TCCCTTTAAGATGGAAAAAATTGGAGACTATTTCCGAGTTA
original cDNA sequence snippet TCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTA
altered cDNA sequence snippet TCCCTTTAAGATGGAAAAAATTGGAGACTATTTCCGAGTTA
wildtype AA sequence MKKWSSTDLG AAADPLQKDT CPDPLDGDPN SRPPPAKPQL STAKSRTRLF GKGDSEEAFP
VDCPHEEGEL DSCPTITVSP VITIQRPGDG PTGARLLSQD SVAASTEKTL RLYDRRSIFE
AVAQNNCQDL ESLLLFLQKS KKHLTDNEFK DPETGKTCLL KAMLNLHDGQ NTTIPLLLEI
ARQTDSLKEL VNASYTDSYY KGQTALHIAI ERRNMALVTL LVENGADVQA AAHGDFFKKT
KGRPGFYFGE LPLSLAACTN QLGIVKFLLQ NSWQTADISA RDSVGNTVLH ALVEVADNTA
DNTKFVTSMY NEILMLGAKL HPTLKLEELT NKKGMTPLAL AAGTGKIGVI ENGPPLSFMV
LAYILQREIQ EPECRHLSRK FTEWAYGPVH SSLYDLSCID TCEKNSVLEV IAYSSSETPN
RHDMLLVEPL NRLLQDKWDR FVKRIFYFNF LVYCLYMIIF TMAAYYRPVD GLPPFKMEKT
GDYFRVTGEI LSVLGGVYFF FRGIQYFLQR RPSMKTLFVD SYSEMLFFLQ SLFMLATVVL
YFSHLKEYVA SMVFSLALGW TNMLYYTRGF QQMGIYAVMI EKMILRDLCR FMFVYIVFLF
GFSTAVVTLI EDGKNDSLPS ESTSHRWRGP ACRPPDSSYN SLYSTCLELF KFTIGMGDLE
FTENYDFKAV FIILLLAYVI LTYILLLNML IALMGETVNK IAQESKNIWK LQRAITILDT
EKSFLKCMRK AFRSGKLLQV GYTPDGKDDY RWCFRVDEVN WTTWNTNVGI INEDPGNCEG
VKRTLSFSLR SSRVSGRHWK NFALVPLLRE ASARDRQSAQ PEEVYLRQFS GSLKPEDAEV
FKSPAASGEK *
mutated AA sequence MKKWSSTDLG AAADPLQKDT CPDPLDGDPN SRPPPAKPQL STAKSRTRLF GKGDSEEAFP
VDCPHEEGEL DSCPTITVSP VITIQRPGDG PTGARLLSQD SVAASTEKTL RLYDRRSIFE
AVAQNNCQDL ESLLLFLQKS KKHLTDNEFK DPETGKTCLL KAMLNLHDGQ NTTIPLLLEI
ARQTDSLKEL VNASYTDSYY KGQTALHIAI ERRNMALVTL LVENGADVQA AAHGDFFKKT
KGRPGFYFGE LPLSLAACTN QLGIVKFLLQ NSWQTADISA RDSVGNTVLH ALVEVADNTA
DNTKFVTSMY NEILMLGAKL HPTLKLEELT NKKGMTPLAL AAGTGKIGVI ENGPPLSFMV
LAYILQREIQ EPECRHLSRK FTEWAYGPVH SSLYDLSCID TCEKNSVLEV IAYSSSETPN
RHDMLLVEPL NRLLQDKWDR FVKRIFYFNF LVYCLYMIIF TMAAYYRPVD GLPPFKMEKI
GDYFRVTGEI LSVLGGVYFF FRGIQYFLQR RPSMKTLFVD SYSEMLFFLQ SLFMLATVVL
YFSHLKEYVA SMVFSLALGW TNMLYYTRGF QQMGIYAVMI EKMILRDLCR FMFVYIVFLF
GFSTAVVTLI EDGKNDSLPS ESTSHRWRGP ACRPPDSSYN SLYSTCLELF KFTIGMGDLE
FTENYDFKAV FIILLLAYVI LTYILLLNML IALMGETVNK IAQESKNIWK LQRAITILDT
EKSFLKCMRK AFRSGKLLQV GYTPDGKDDY RWCFRVDEVN WTTWNTNVGI INEDPGNCEG
VKRTLSFSLR SSRVSGRHWK NFALVPLLRE ASARDRQSAQ PEEVYLRQFS GSLKPEDAEV
FKSPAASGEK *
speed 0.32 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
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