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 1.18 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