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 0.63 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