Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.00947868830909503 (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 ENST00000358755
Genbank transcript ID NM_003506
UniProt peptide O60353
alteration type single base exchange
alteration region CDS
DNA changes c.1033A>C
cDNA.1350A>C
g.26707A>C
AA changes M345L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 345
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      345TPGFLTVMLLAMNKVEGDNISGVC
mutated  all conserved    345TPGFLTVMLLALNKVEGDNISGV
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 
325345TRANSMEMHelical; Name=4; (Potential).lost
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 2121 / 2121
position (AA) of stopcodon in wt / mu AA sequence 707 / 707
position of stopcodon in wt / mu cDNA 2438 / 2438
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 318 / 318
chromosome 8
strand 1
last intron/exon boundary 2270
theoretical NMD boundary in CDS 1902
length of CDS 2121
coding sequence (CDS) position 1033
cDNA position
(for ins/del: last normal base / first normal base)		 1350
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 MEMFTFLLTC IFLPLLRGHS LFTCEPITVP RCMKMAYNMT FFPNLMGHYD QSIAAVEMEH
FLPLANLECS PNIETFLCKA FVPTCIEQIH VVPPCRKLCE KVYSDCKKLI DTFGIRWPEE
LECDRLQYCD ETVPVTFDPH TEFLGPQKKT EQVQRDIGFW CPRHLKTSGG QGYKFLGIDQ
CAPPCPNMYF KSDELEFAKS FIGTVSIFCL CATLFTFLTF LIDVRRFRYP ERPIIYYSVC
YSIVSLMYFI GFLLGDSTAC NKADEKLELG DTVVLGSQNK ACTVLFMLLY FFTMAGTVWW
VILTITWFLA AGRKWSCEAI EQKAVWFHAV AWGTPGFLTV MLLAMNKVEG DNISGVCFVG
LYDLDASRYF VLLPLCLCVF VGLSLLLAGI ISLNHVRQVI QHDGRNQEKL KKFMIRIGVF
SGLYLVPLVT LLGCYVYEQV NRITWEITWV SDHCRQYHIP CPYQAKAKAR PELALFMIKY
LMTLIVGISA VFWVGSKKTC TEWAGFFKRN RKRDPISESR RVLQESCEFF LKHNSKVKHK
KKHYKPSSHK LKVISKSMGT STGATANHGT SAVAITSHDY LGQETLTEIQ TSPETSMREV
KADGASTPRL REQDCGEPAS PAASISRLSG EQVDGKGQAG SVSESARSEG RISPKSDITD
TGLAQSNNLQ VPSSSEPSSL KGSTSLLVHP VSGVRKEQGG GCHSDT*
mutated AA sequence MEMFTFLLTC IFLPLLRGHS LFTCEPITVP RCMKMAYNMT FFPNLMGHYD QSIAAVEMEH
FLPLANLECS PNIETFLCKA FVPTCIEQIH VVPPCRKLCE KVYSDCKKLI DTFGIRWPEE
LECDRLQYCD ETVPVTFDPH TEFLGPQKKT EQVQRDIGFW CPRHLKTSGG QGYKFLGIDQ
CAPPCPNMYF KSDELEFAKS FIGTVSIFCL CATLFTFLTF LIDVRRFRYP ERPIIYYSVC
YSIVSLMYFI GFLLGDSTAC NKADEKLELG DTVVLGSQNK ACTVLFMLLY FFTMAGTVWW
VILTITWFLA AGRKWSCEAI EQKAVWFHAV AWGTPGFLTV MLLALNKVEG DNISGVCFVG
LYDLDASRYF VLLPLCLCVF VGLSLLLAGI ISLNHVRQVI QHDGRNQEKL KKFMIRIGVF
SGLYLVPLVT LLGCYVYEQV NRITWEITWV SDHCRQYHIP CPYQAKAKAR PELALFMIKY
LMTLIVGISA VFWVGSKKTC TEWAGFFKRN RKRDPISESR RVLQESCEFF LKHNSKVKHK
KKHYKPSSHK LKVISKSMGT STGATANHGT SAVAITSHDY LGQETLTEIQ TSPETSMREV
KADGASTPRL REQDCGEPAS PAASISRLSG EQVDGKGQAG SVSESARSEG RISPKSDITD
TGLAQSNNLQ VPSSSEPSSL KGSTSLLVHP VSGVRKEQGG GCHSDT*
speed 0.19 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