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 5.58594 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
TRPV1polymorphism_automatic2.17489443699037e-06simple_aaeM315Isingle base exchangers222747show file
TRPV1polymorphism_automatic2.45937434995014e-06simple_aaeM315Isingle base exchangers222747show file
TRPV1polymorphism_automatic2.45937434995014e-06simple_aaeM315Isingle base exchangers222747show file
TRPV1polymorphism_automatic2.45937434995014e-06simple_aaeM315Isingle base exchangers222747show file
TRPV1polymorphism_automatic2.45937434995014e-06simple_aaeM315Isingle base exchangers222747show file
TRPV1polymorphism_automatic2.45937434995014e-06simple_aaeM315Isingle base exchangers222747show file
TRPV1polymorphism_automatic2.45937434995014e-06simple_aaeM313Isingle base exchangers222747show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999997825105563 (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 CM077645)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:3493200C>GN/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.945G>C
cDNA.945G>C
g.7193G>C
AA changes M315I Score: 10 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 315
frameshift no
known variant Reference ID: rs222747
databasehomozygous (G/G)heterozygousallele carriers
1000G14178392256
ExAC24997-172277770

known disease mutation at this position, please check HGMD for details (HGMD ID CM077645)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.3641
0.6391
(flanking)2.5041
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 100
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      315KFVTSMYNEILMLGAKLHPTLKLE
mutated  all conserved    315KFVTSMYNEILILGAKLHPTLKL
Ptroglodytes  all conserved  ENSPTRG00000024045  315KFVTSMYNEILILGAKLHPTLKL
Mmulatta  not conserved  ENSMMUG00000000711  380AYGPV---HSSLYDLSCI
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000005952  380KFTEWAYGPV---HSSLYDLSCI
Ggallus  not conserved  ENSGALG00000004649  331PILKLEELTNKKGLTPLTL
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000059883  279EFVIAMYDHILIKA
Dmelanogaster  not conserved  FBgn0036414  311---IEMFDVGYEVGTNIH-----
Celegans  not conserved  B0212.5  284NYSSSMYSYAVRHWAKPADPHVVNHAGFTPLTLATKLGRKQIF
Xtropicalis  all conserved  ENSXETG00000005790  326TFVTKMYNEILVLGAQIRPSLKLEEIMNKKG
protein features
start (aa)end (aa)featuredetails 
1433TOPO_DOMCytoplasmic (Potential).lost
284332REPEATANK 5.lost
315315CONFLICTM -> I (in Ref. 1; CAB95729, 2; AAG43467, 3; CAB89866, 4; AAM89472, 5; CAB66735, 7; EAW90497 and 8; AAI32821/AAI36634).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 945
cDNA position
(for ins/del: last normal base / first normal base)		 945
gDNA position
(for ins/del: last normal base / first normal base)		 7193
chromosomal position
(for ins/del: last normal base / first normal base)		 3493200
original gDNA sequence snippet ATGTACAATGAGATTCTGATGCTGGGGGCCAAACTGCACCC
altered gDNA sequence snippet ATGTACAATGAGATTCTGATCCTGGGGGCCAAACTGCACCC
original cDNA sequence snippet ATGTACAATGAGATTCTGATGCTGGGGGCCAAACTGCACCC
altered cDNA sequence snippet ATGTACAATGAGATTCTGATCCTGGGGGCCAAACTGCACCC
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 NEILILGAKL 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*
speed 0.89 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: 0.99999754062565 (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 CM077645)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:3493200C>GN/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.945G>C
cDNA.1146G>C
g.7193G>C
AA changes M315I Score: 10 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 315
frameshift no
known variant Reference ID: rs222747
databasehomozygous (G/G)heterozygousallele carriers
1000G14178392256
ExAC24997-172277770

known disease mutation at this position, please check HGMD for details (HGMD ID CM077645)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.3641
0.6391
(flanking)2.5041
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 100
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      315KFVTSMYNEILMLGAKLHPTLKLE
mutated  all conserved    315KFVTSMYNEILILGAKLHPTLKL
Ptroglodytes  all conserved  ENSPTRG00000024045  315KFVTSMYNEILILGAKLHPTLKL
Mmulatta  all conserved  ENSMMUG00000000711  315KFVTSMYNEILILGAKLHPTLKL
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000005952  315KFVTNMYNEILILGAKLHPTLKL
Ggallus  all conserved  ENSGALG00000004649  321KFVTKMYNNILILGAKIN
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000059883  279EFVIAMYDHILIKA
Dmelanogaster  not conserved  FBgn0036414  311---IEMFDVGYEVGTNIH-----
Celegans  not conserved  B0212.5  284NYSSSMYSYAVRHWAKPADP---
Xtropicalis  all conserved  ENSXETG00000005790  326TFVTKMYNEILVLGAQIRPSLKL
protein features
start (aa)end (aa)featuredetails 
1433TOPO_DOMCytoplasmic (Potential).lost
284332REPEATANK 5.lost
315315CONFLICTM -> I (in Ref. 1; CAB95729, 2; AAG43467, 3; CAB89866, 4; AAM89472, 5; CAB66735, 7; EAW90497 and 8; AAI32821/AAI36634).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 945
cDNA position
(for ins/del: last normal base / first normal base)		 1146
gDNA position
(for ins/del: last normal base / first normal base)		 7193
chromosomal position
(for ins/del: last normal base / first normal base)		 3493200
original gDNA sequence snippet ATGTACAATGAGATTCTGATGCTGGGGGCCAAACTGCACCC
altered gDNA sequence snippet ATGTACAATGAGATTCTGATCCTGGGGGCCAAACTGCACCC
original cDNA sequence snippet ATGTACAATGAGATTCTGATGCTGGGGGCCAAACTGCACCC
altered cDNA sequence snippet ATGTACAATGAGATTCTGATCCTGGGGGCCAAACTGCACCC
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 NEILILGAKL 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*
speed 0.41 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: 0.99999754062565 (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 CM077645)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:3493200C>GN/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.945G>C
cDNA.1159G>C
g.7193G>C
AA changes M315I Score: 10 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 315
frameshift no
known variant Reference ID: rs222747
databasehomozygous (G/G)heterozygousallele carriers
1000G14178392256
ExAC24997-172277770

known disease mutation at this position, please check HGMD for details (HGMD ID CM077645)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.3641
0.6391
(flanking)2.5041
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 100
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      315KFVTSMYNEILMLGAKLHPTLKLE
mutated  all conserved    315KFVTSMYNEILILGAKLHPTLKL
Ptroglodytes  all conserved  ENSPTRG00000024045  315KFVTSMYNEILILGAKLHPTLKL
Mmulatta  all conserved  ENSMMUG00000000711  315KFVTSMYNEILILGAKLHPTLKL
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000005952  315KFVTNMYNEILILGAKLHPTLKL
Ggallus  all conserved  ENSGALG00000004649  321KFVTKMYNNILILGAKIN
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000059883  279EFVIAMYDHILIKA
Dmelanogaster  not conserved  FBgn0036414  311---IEMFDVGYEVGTNIH-----
Celegans  not conserved  B0212.5  284NYSSSMYSYAVRHWAKPADP---
Xtropicalis  all conserved  ENSXETG00000005790  326TFVTKMYNEILVLGAQIRPSLKL
protein features
start (aa)end (aa)featuredetails 
1433TOPO_DOMCytoplasmic (Potential).lost
284332REPEATANK 5.lost
315315CONFLICTM -> I (in Ref. 1; CAB95729, 2; AAG43467, 3; CAB89866, 4; AAM89472, 5; CAB66735, 7; EAW90497 and 8; AAI32821/AAI36634).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 945
cDNA position
(for ins/del: last normal base / first normal base)		 1159
gDNA position
(for ins/del: last normal base / first normal base)		 7193
chromosomal position
(for ins/del: last normal base / first normal base)		 3493200
original gDNA sequence snippet ATGTACAATGAGATTCTGATGCTGGGGGCCAAACTGCACCC
altered gDNA sequence snippet ATGTACAATGAGATTCTGATCCTGGGGGCCAAACTGCACCC
original cDNA sequence snippet ATGTACAATGAGATTCTGATGCTGGGGGCCAAACTGCACCC
altered cDNA sequence snippet ATGTACAATGAGATTCTGATCCTGGGGGCCAAACTGCACCC
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 NEILILGAKL 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*
speed 0.61 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: 0.99999754062565 (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 CM077645)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:3493200C>GN/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.945G>C
cDNA.978G>C
g.7193G>C
AA changes M315I Score: 10 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 315
frameshift no
known variant Reference ID: rs222747
databasehomozygous (G/G)heterozygousallele carriers
1000G14178392256
ExAC24997-172277770

known disease mutation at this position, please check HGMD for details (HGMD ID CM077645)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.3641
0.6391
(flanking)2.5041
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 100
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      315KFVTSMYNEILMLGAKLHPTLKLE
mutated  all conserved    315KFVTSMYNEILILGAKLHPTLKL
Ptroglodytes  all conserved  ENSPTRG00000024045  315KFVTSMYNEILILGAKLHPTLKL
Mmulatta  all conserved  ENSMMUG00000000711  315KFVTSMYNEILILGAKLHPTLKL
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000005952  315KFVTNMYNEILILGAKLHPTLKL
Ggallus  all conserved  ENSGALG00000004649  321KFVTKMYNNILILGAKIN
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000059883  279EFVIAMYDHILIKA
Dmelanogaster  not conserved  FBgn0036414  311---IEMFDVGYEVGTNIH-----
Celegans  not conserved  B0212.5  284NYSSSMYSYAVRHWAKPADP---
Xtropicalis  all conserved  ENSXETG00000005790  326TFVTKMYNEILVLGAQIRPSLKL
protein features
start (aa)end (aa)featuredetails 
1433TOPO_DOMCytoplasmic (Potential).lost
284332REPEATANK 5.lost
315315CONFLICTM -> I (in Ref. 1; CAB95729, 2; AAG43467, 3; CAB89866, 4; AAM89472, 5; CAB66735, 7; EAW90497 and 8; AAI32821/AAI36634).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 945
cDNA position
(for ins/del: last normal base / first normal base)		 978
gDNA position
(for ins/del: last normal base / first normal base)		 7193
chromosomal position
(for ins/del: last normal base / first normal base)		 3493200
original gDNA sequence snippet ATGTACAATGAGATTCTGATGCTGGGGGCCAAACTGCACCC
altered gDNA sequence snippet ATGTACAATGAGATTCTGATCCTGGGGGCCAAACTGCACCC
original cDNA sequence snippet ATGTACAATGAGATTCTGATGCTGGGGGCCAAACTGCACCC
altered cDNA sequence snippet ATGTACAATGAGATTCTGATCCTGGGGGCCAAACTGCACCC
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 NEILILGAKL 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*
speed 0.58 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: 0.99999754062565 (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 CM077645)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:3493200C>GN/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.945G>C
cDNA.1472G>C
g.7193G>C
AA changes M315I Score: 10 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 315
frameshift no
known variant Reference ID: rs222747
databasehomozygous (G/G)heterozygousallele carriers
1000G14178392256
ExAC24997-172277770

known disease mutation at this position, please check HGMD for details (HGMD ID CM077645)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.3641
0.6391
(flanking)2.5041
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 100
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      315KFVTSMYNEILMLGAKLHPTLKLE
mutated  all conserved    315KFVTSMYNEILILGAKLHPTLKL
Ptroglodytes  all conserved  ENSPTRG00000024045  315KFVTSMYNEILILGAKLHPTLKL
Mmulatta  all conserved  ENSMMUG00000000711  315KFVTSMYNEILILGAKLHPTLKL
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000005952  315KFVTNMYNEILILGAKLHPTLKL
Ggallus  all conserved  ENSGALG00000004649  321KFVTKMYNNILILGAKIN
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000059883  279EFVIAMYDHILIKA
Dmelanogaster  not conserved  FBgn0036414  311---IEMFDVGYEVGTNIH-----
Celegans  not conserved  B0212.5  284NYSSSMYSYAVRHWAKPADP---
Xtropicalis  all conserved  ENSXETG00000005790  326TFVTKMYNEILVLGAQIRPSLKL
protein features
start (aa)end (aa)featuredetails 
1433TOPO_DOMCytoplasmic (Potential).lost
284332REPEATANK 5.lost
315315CONFLICTM -> I (in Ref. 1; CAB95729, 2; AAG43467, 3; CAB89866, 4; AAM89472, 5; CAB66735, 7; EAW90497 and 8; AAI32821/AAI36634).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 945
cDNA position
(for ins/del: last normal base / first normal base)		 1472
gDNA position
(for ins/del: last normal base / first normal base)		 7193
chromosomal position
(for ins/del: last normal base / first normal base)		 3493200
original gDNA sequence snippet ATGTACAATGAGATTCTGATGCTGGGGGCCAAACTGCACCC
altered gDNA sequence snippet ATGTACAATGAGATTCTGATCCTGGGGGCCAAACTGCACCC
original cDNA sequence snippet ATGTACAATGAGATTCTGATGCTGGGGGCCAAACTGCACCC
altered cDNA sequence snippet ATGTACAATGAGATTCTGATCCTGGGGGCCAAACTGCACCC
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 NEILILGAKL 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*
speed 0.83 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: 0.99999754062565 (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 CM077645)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:3493200C>GN/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.945G>C
cDNA.962G>C
g.7193G>C
AA changes M315I Score: 10 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 315
frameshift no
known variant Reference ID: rs222747
databasehomozygous (G/G)heterozygousallele carriers
1000G14178392256
ExAC24997-172277770

known disease mutation at this position, please check HGMD for details (HGMD ID CM077645)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.3641
0.6391
(flanking)2.5041
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 100
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      315KFVTSMYNEILMLGAKLHPTLKLE
mutated  all conserved    315KFVTSMYNEILILGAKLHPTLKL
Ptroglodytes  all conserved  ENSPTRG00000024045  315KFVTSMYNEILILGAKLHPTLKL
Mmulatta  all conserved  ENSMMUG00000000711  315KFVTSMYNEILILGAKLHPTLKL
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000005952  315KFVTNMYNEILILGAKLHPTLKL
Ggallus  all conserved  ENSGALG00000004649  321KFVTKMYNNILILGAKIN
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000059883  279EFVIAMYDHILIKA
Dmelanogaster  not conserved  FBgn0036414  311---IEMFDVGYEVGTNIH-----
Celegans  not conserved  B0212.5  284NYSSSMYSYAVRHWAKPADP---
Xtropicalis  all conserved  ENSXETG00000005790  326TFVTKMYNEILVLGAQIRPSLKL
protein features
start (aa)end (aa)featuredetails 
1433TOPO_DOMCytoplasmic (Potential).lost
284332REPEATANK 5.lost
315315CONFLICTM -> I (in Ref. 1; CAB95729, 2; AAG43467, 3; CAB89866, 4; AAM89472, 5; CAB66735, 7; EAW90497 and 8; AAI32821/AAI36634).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 945
cDNA position
(for ins/del: last normal base / first normal base)		 962
gDNA position
(for ins/del: last normal base / first normal base)		 7193
chromosomal position
(for ins/del: last normal base / first normal base)		 3493200
original gDNA sequence snippet ATGTACAATGAGATTCTGATGCTGGGGGCCAAACTGCACCC
altered gDNA sequence snippet ATGTACAATGAGATTCTGATCCTGGGGGCCAAACTGCACCC
original cDNA sequence snippet ATGTACAATGAGATTCTGATGCTGGGGGCCAAACTGCACCC
altered cDNA sequence snippet ATGTACAATGAGATTCTGATCCTGGGGGCCAAACTGCACCC
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 NEILILGAKL 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 *
speed 0.84 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: 0.99999754062565 (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 CM077645)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:3493200C>GN/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.939G>C
cDNA.1229G>C
g.7193G>C
AA changes M313I Score: 10 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 313
frameshift no
known variant Reference ID: rs222747
databasehomozygous (G/G)heterozygousallele carriers
1000G14178392256
ExAC24997-172277770

known disease mutation at this position, please check HGMD for details (HGMD ID CM077645)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.3641
0.6391
(flanking)2.5041
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 100
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      313KFVTSMYNEILMLGAKLHPTLKLE
mutated  all conserved    313KFVTSMYNEILILGAKLHPTLKL
Ptroglodytes  all conserved  ENSPTRG00000024045  315KFVTSMYNEILILGAKLHPTLKL
Mmulatta  all conserved  ENSMMUG00000000711  315KFVTSMYNEILILGAKLHPTLKL
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000005952  315KFVTNMYNEILILGAKLHPTLKL
Ggallus  all conserved  ENSGALG00000004649  321KFVTKMYNNILILGAKINPILKL
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000059883  279EFVIAMYDHILIKADQLHPKTKL
Dmelanogaster  not conserved  FBgn0036414  311---IEMFDVGYEVGTNIH-----
Celegans  not conserved  B0212.5  284NYSSSMYSYAVRHWAKPADP---
Xtropicalis  all conserved  ENSXETG00000005790  326TFVTKMYNEILVLGAQIRPSLKL
protein features
start (aa)end (aa)featuredetails 
1433TOPO_DOMCytoplasmic (Potential).lost
284332REPEATANK 5.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 939
cDNA position
(for ins/del: last normal base / first normal base)		 1229
gDNA position
(for ins/del: last normal base / first normal base)		 7193
chromosomal position
(for ins/del: last normal base / first normal base)		 3493200
original gDNA sequence snippet ATGTACAATGAGATTCTGATGCTGGGGGCCAAACTGCACCC
altered gDNA sequence snippet ATGTACAATGAGATTCTGATCCTGGGGGCCAAACTGCACCC
original cDNA sequence snippet ATGTACAATGAGATTCTGATGCTGGGGGCCAAACTGCACCC
altered cDNA sequence snippet ATGTACAATGAGATTCTGATCCTGGGGGCCAAACTGCACCC
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 ILILGAKLHP 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*
speed 0.83 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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Problems

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