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
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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 1.02 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