Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999993838 (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) chr17:18653070G>AN/A show variant in all transcripts   IGV
HGNC symbol FBXW10
Ensembl transcript ID ENST00000301938
Genbank transcript ID NM_001267586
UniProt peptide Q5XX13
alteration type single base exchange
alteration region CDS
DNA changes c.706G>A
cDNA.876G>A
g.5745G>A
AA changes E236K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 236
frameshift no
known variant Reference ID: rs9895749
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC50302270727737
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.4080
0.5840.005
(flanking)0.3470.006
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased5749wt: 0.9402 / mu: 0.9833 (marginal change - not scored)wt: CGAAATGAATAGGCT
mu: CAAAATGAATAGGCT		 AAAT|gaat
Donor increased5742wt: 0.41 / mu: 0.47wt: GTATATCCGAAATGA
mu: GTATATCCAAAATGA		 ATAT|ccga
Donor marginally increased5747wt: 0.2023 / mu: 0.2358 (marginal change - not scored)wt: TCCGAAATGAATAGG
mu: TCCAAAATGAATAGG		 CGAA|atga
distance from splice site 36
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      236EPWRNSLRCISEMNRLFSGKGDIT
mutated  all conserved    236EPWRNSLRCISKMNRL
Ptroglodytes  no alignment  ENSPTRG00000008801  n/a
Mmulatta  all identical  ENSMMUG00000019200  236EPWRNSLQCISEMNRL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000090173  241IHEMNRQIFGKGGM
Ggallus  no alignment  ENSGALG00000001323  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000086484  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000031311  217CFSSFLLMAVTPMGHS
protein features
start (aa)end (aa)featuredetails 
236236CONFLICTE -> K (in Ref. 2; CAB66756).lost
275275CONFLICTR -> L (in Ref. 1; AAU43731 and 4; AAH28364).might get lost (downstream of altered splice site)
276323DOMAINF-box.might get lost (downstream of altered splice site)
409447REPEATWD 2.might get lost (downstream of altered splice site)
413413CONFLICTD -> V (in Ref. 2; CAB66756).might get lost (downstream of altered splice site)
451490REPEATWD 3.might get lost (downstream of altered splice site)
493532REPEATWD 4.might get lost (downstream of altered splice site)
534569REPEATWD 5.might get lost (downstream of altered splice site)
572609REPEATWD 6.might get lost (downstream of altered splice site)
611652REPEATWD 7.might get lost (downstream of altered splice site)
638638CONFLICTR -> L (in Ref. 1; AAU43731).might get lost (downstream of altered splice site)
690719COILEDPotential.might get lost (downstream of altered splice site)
9861010COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3000 / 3000
position (AA) of stopcodon in wt / mu AA sequence 1000 / 1000
position of stopcodon in wt / mu cDNA 3170 / 3170
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 171 / 171
chromosome 17
strand 1
last intron/exon boundary 2347
theoretical NMD boundary in CDS 2126
length of CDS 3000
coding sequence (CDS) position 706
cDNA position
(for ins/del: last normal base / first normal base)		 876
gDNA position
(for ins/del: last normal base / first normal base)		 5745
chromosomal position
(for ins/del: last normal base / first normal base)		 18653070
original gDNA sequence snippet ATTCACTCCGGTGTATATCCGAAATGAATAGGCTGTTTTCT
altered gDNA sequence snippet ATTCACTCCGGTGTATATCCAAAATGAATAGGCTGTTTTCT
original cDNA sequence snippet ATTCACTCCGGTGTATATCCGAAATGAATAGGCTGTTTTCT
altered cDNA sequence snippet ATTCACTCCGGTGTATATCCAAAATGAATAGGCTGTTTTCT
wildtype AA sequence MENLESRLKN APYFRCEKGT DSIPLCRKCE TCVLAWKIFS TKEWFCRIND ISQRRFLVGI
LKQLNSLYLL HYFQNILQTT QGKDFIYNRS RINLSKKEGK VVKSSLNQML DKTVEQKMKE
ILYWFANSTQ WTKANYTLLL LQMCNPKLLL TAANVIRVLF LREENNISGL NQDITDVCFS
PEKDHSSKSA TSQVYWTAKT QHTSLPLSKA PENEHLLGAA SNPEEPWRNS LRCISEMNRL
FSGKGDITKP GYDPCNLLVD LDDIRDLSSG FSKYRDFIRY LPIHLSKYIL RMLDRHTLNK
CASVSQHWAA MAQQVKMDLS AHGFIQNQIT FLQGSYTRGI DPNYANKVSI PVPKMVDDGK
SMRVKHPKWK LRTKNEYNLW TAYQNEETQQ VLIEERNVFC GTYNVRILSD TWDQNRVIHY
SGGDLIAVSS NRKIHLLDII QVKAIPVEFR GHAGSVRALF LCEEENFLLS GSYDLSIRYW
DLKSGVCTRI FGGHQGTITC MDLCKNRLVS GGRDCQVKVW DVDTGKCLKT FRHKDPILAT
RINDTYIVSS CERGLVKVWH IAMAQLVKTL SGHEGAVKCL FFDQWHLLSG STDGLVMAWS
MVGKYERCLM AFKHPKMVVN TESNVLMFQF EHIKWQYAVE KTKQKKNKEK EEEKEENSLM
EILSKCNIQV HSPRESVSSK QTVIQELLPG KPPKSRVLLK PAKFSSAVLI EELQSQGKSK
SPRRDADDVE KAQKQGQLET PGKLPSHPKK KSWKIPMSPD QFLLTVSALQ HAHNSGEFAY
PCRPQTEITD VWGPSISYPR KVLNFKGKSI QRAVDRLRLS NPPIDVKRTS IPLEIQKLQP
NLKISLHSPR VQSTIPQPMI IRSRFSGSLK GGDQVTSSIE RAVCSTGPLT SMQVIKPNRM
LAPQVGTATL SLKKERPRIY TALDPFRVNT EFVLLTVKEE KEHQEAKMKE YQARESTGVV
DPGKVSKAAW IRKIKGLPID NFTKQGKTAA PELGQNVFI*
mutated AA sequence MENLESRLKN APYFRCEKGT DSIPLCRKCE TCVLAWKIFS TKEWFCRIND ISQRRFLVGI
LKQLNSLYLL HYFQNILQTT QGKDFIYNRS RINLSKKEGK VVKSSLNQML DKTVEQKMKE
ILYWFANSTQ WTKANYTLLL LQMCNPKLLL TAANVIRVLF LREENNISGL NQDITDVCFS
PEKDHSSKSA TSQVYWTAKT QHTSLPLSKA PENEHLLGAA SNPEEPWRNS LRCISKMNRL
FSGKGDITKP GYDPCNLLVD LDDIRDLSSG FSKYRDFIRY LPIHLSKYIL RMLDRHTLNK
CASVSQHWAA MAQQVKMDLS AHGFIQNQIT FLQGSYTRGI DPNYANKVSI PVPKMVDDGK
SMRVKHPKWK LRTKNEYNLW TAYQNEETQQ VLIEERNVFC GTYNVRILSD TWDQNRVIHY
SGGDLIAVSS NRKIHLLDII QVKAIPVEFR GHAGSVRALF LCEEENFLLS GSYDLSIRYW
DLKSGVCTRI FGGHQGTITC MDLCKNRLVS GGRDCQVKVW DVDTGKCLKT FRHKDPILAT
RINDTYIVSS CERGLVKVWH IAMAQLVKTL SGHEGAVKCL FFDQWHLLSG STDGLVMAWS
MVGKYERCLM AFKHPKMVVN TESNVLMFQF EHIKWQYAVE KTKQKKNKEK EEEKEENSLM
EILSKCNIQV HSPRESVSSK QTVIQELLPG KPPKSRVLLK PAKFSSAVLI EELQSQGKSK
SPRRDADDVE KAQKQGQLET PGKLPSHPKK KSWKIPMSPD QFLLTVSALQ HAHNSGEFAY
PCRPQTEITD VWGPSISYPR KVLNFKGKSI QRAVDRLRLS NPPIDVKRTS IPLEIQKLQP
NLKISLHSPR VQSTIPQPMI IRSRFSGSLK GGDQVTSSIE RAVCSTGPLT SMQVIKPNRM
LAPQVGTATL SLKKERPRIY TALDPFRVNT EFVLLTVKEE KEHQEAKMKE YQARESTGVV
DPGKVSKAAW IRKIKGLPID NFTKQGKTAA PELGQNVFI*
speed 1.06 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