Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0165697520202197 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:104337367A>CN/A show variant in all transcripts   IGV
HGNC symbol FZD6
Ensembl transcript ID ENST00000523739
Genbank transcript ID NM_001164616
UniProt peptide O60353
alteration type single base exchange
alteration region CDS
DNA changes c.937A>C
cDNA.1201A>C
g.26707A>C
AA changes M313L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 313
frameshift no
known variant Reference ID: rs3808553
databasehomozygous (C/C)heterozygousallele carriers
1000G55811281686
ExAC13605555719162
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.6060.006
1.9140.958
(flanking)5.3061
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased26708wt: 0.8049 / mu: 0.8540 (marginal change - not scored)wt: GACTGTTATGCTTCTTGCTATGAACAAAGTTGAAGGAGACA
mu: GACTGTTATGCTTCTTGCTCTGAACAAAGTTGAAGGAGACA		 ctat|GAAC
Acc marginally increased26703wt: 0.7301 / mu: 0.7709 (marginal change - not scored)wt: TTCCTGACTGTTATGCTTCTTGCTATGAACAAAGTTGAAGG
mu: TTCCTGACTGTTATGCTTCTTGCTCTGAACAAAGTTGAAGG		 tctt|GCTA
Acc marginally increased26707wt: 0.5889 / mu: 0.6006 (marginal change - not scored)wt: TGACTGTTATGCTTCTTGCTATGAACAAAGTTGAAGGAGAC
mu: TGACTGTTATGCTTCTTGCTCTGAACAAAGTTGAAGGAGAC		 gcta|TGAA
Acc marginally increased26704wt: 0.7289 / mu: 0.7724 (marginal change - not scored)wt: TCCTGACTGTTATGCTTCTTGCTATGAACAAAGTTGAAGGA
mu: TCCTGACTGTTATGCTTCTTGCTCTGAACAAAGTTGAAGGA		 cttg|CTAT
Acc marginally increased26705wt: 0.9711 / mu: 0.9800 (marginal change - not scored)wt: CCTGACTGTTATGCTTCTTGCTATGAACAAAGTTGAAGGAG
mu: CCTGACTGTTATGCTTCTTGCTCTGAACAAAGTTGAAGGAG		 ttgc|TATG
Donor marginally increased26710wt: 0.9890 / mu: 0.9899 (marginal change - not scored)wt: CTATGAACAAAGTTG
mu: CTCTGAACAAAGTTG		 ATGA|acaa
Acc gained267140.32mu: TATGCTTCTTGCTCTGAACAAAGTTGAAGGAGACAACATTA acaa|AGTT
Acc gained267120.41mu: GTTATGCTTCTTGCTCTGAACAAAGTTGAAGGAGACAACAT gaac|AAAG
Acc gained267090.58mu: ACTGTTATGCTTCTTGCTCTGAACAAAGTTGAAGGAGACAA tctg|AACA
distance from splice site 360
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      313TPGFLTVMLLAMNKVEGDNISGVC
mutated  all conserved    313TPGFLTVMLLALNKVEGDNISGV
Ptroglodytes  all identical  ENSPTRG00000020490  345TPGFLTVMLLAMNKVEGDNISGV
Mmulatta  all identical  ENSMMUG00000019399  345TPGFLTVMLLAMNKVEGDNISGV
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000022297  345APGFLTVMLLAMNKVEGDNISGV
Ggallus  all identical  ENSGALG00000016069  345IPGFLTIMLLAMNKVEGDNISGV
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000042731  283VPAVLTLLLLALGKVEGDGIS
Dmelanogaster  all conserved  FBgn0001085  400VPALQTISVLALAKVEGDILSGV
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
306324TOPO_DOMCytoplasmic (Potential).lost
325345TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
346370TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
352352CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
371391TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
392416TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
417437TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
438473TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
474494TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
495706TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
498503MOTIFLys-Thr-X-X-X-Trp motif, mediates interaction with the PDZ domain of Dvl family members (By similarity).might get lost (downstream of altered splice site)
606606MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
607607MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2025 / 2025
position (AA) of stopcodon in wt / mu AA sequence 675 / 675
position of stopcodon in wt / mu cDNA 2289 / 2289
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 265 / 265
chromosome 8
strand 1
last intron/exon boundary 2121
theoretical NMD boundary in CDS 1806
length of CDS 2025
coding sequence (CDS) position 937
cDNA position
(for ins/del: last normal base / first normal base)		 1201
gDNA position
(for ins/del: last normal base / first normal base)		 26707
chromosomal position
(for ins/del: last normal base / first normal base)		 104337367
original gDNA sequence snippet TGACTGTTATGCTTCTTGCTATGAACAAAGTTGAAGGAGAC
altered gDNA sequence snippet TGACTGTTATGCTTCTTGCTCTGAACAAAGTTGAAGGAGAC
original cDNA sequence snippet TGACTGTTATGCTTCTTGCTATGAACAAAGTTGAAGGAGAC
altered cDNA sequence snippet TGACTGTTATGCTTCTTGCTCTGAACAAAGTTGAAGGAGAC
wildtype AA sequence MKMAYNMTFF PNLMGHYDQS IAAVEMEHFL PLANLECSPN IETFLCKAFV PTCIEQIHVV
PPCRKLCEKV YSDCKKLIDT FGIRWPEELE CDRLQYCDET VPVTFDPHTE FLGPQKKTEQ
VQRDIGFWCP RHLKTSGGQG YKFLGIDQCA PPCPNMYFKS DELEFAKSFI GTVSIFCLCA
TLFTFLTFLI DVRRFRYPER PIIYYSVCYS IVSLMYFIGF LLGDSTACNK ADEKLELGDT
VVLGSQNKAC TVLFMLLYFF TMAGTVWWVI LTITWFLAAG RKWSCEAIEQ KAVWFHAVAW
GTPGFLTVML LAMNKVEGDN ISGVCFVGLY DLDASRYFVL LPLCLCVFVG LSLLLAGIIS
LNHVRQVIQH DGRNQEKLKK FMIRIGVFSG LYLVPLVTLL GCYVYEQVNR ITWEITWVSD
HCRQYHIPCP YQAKAKARPE LALFMIKYLM TLIVGISAVF WVGSKKTCTE WAGFFKRNRK
RDPISESRRV LQESCEFFLK HNSKVKHKKK HYKPSSHKLK VISKSMGTST GATANHGTSA
VAITSHDYLG QETLTEIQTS PETSMREVKA DGASTPRLRE QDCGEPASPA ASISRLSGEQ
VDGKGQAGSV SESARSEGRI SPKSDITDTG LAQSNNLQVP SSSEPSSLKG STSLLVHPVS
GVRKEQGGGC HSDT*
mutated AA sequence MKMAYNMTFF PNLMGHYDQS IAAVEMEHFL PLANLECSPN IETFLCKAFV PTCIEQIHVV
PPCRKLCEKV YSDCKKLIDT FGIRWPEELE CDRLQYCDET VPVTFDPHTE FLGPQKKTEQ
VQRDIGFWCP RHLKTSGGQG YKFLGIDQCA PPCPNMYFKS DELEFAKSFI GTVSIFCLCA
TLFTFLTFLI DVRRFRYPER PIIYYSVCYS IVSLMYFIGF LLGDSTACNK ADEKLELGDT
VVLGSQNKAC TVLFMLLYFF TMAGTVWWVI LTITWFLAAG RKWSCEAIEQ KAVWFHAVAW
GTPGFLTVML LALNKVEGDN ISGVCFVGLY DLDASRYFVL LPLCLCVFVG LSLLLAGIIS
LNHVRQVIQH DGRNQEKLKK FMIRIGVFSG LYLVPLVTLL GCYVYEQVNR ITWEITWVSD
HCRQYHIPCP YQAKAKARPE LALFMIKYLM TLIVGISAVF WVGSKKTCTE WAGFFKRNRK
RDPISESRRV LQESCEFFLK HNSKVKHKKK HYKPSSHKLK VISKSMGTST GATANHGTSA
VAITSHDYLG QETLTEIQTS PETSMREVKA DGASTPRLRE QDCGEPASPA ASISRLSGEQ
VDGKGQAGSV SESARSEGRI SPKSDITDTG LAQSNNLQVP SSSEPSSLKG STSLLVHPVS
GVRKEQGGGC HSDT*
speed 0.87 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