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 1.26 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