Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 3 transcript(s)...
Querying Taster for transcript #1: ENST00000255674
Querying Taster for transcript #2: ENST00000437017
Querying Taster for transcript #3: ENST00000454359
MT speed 0 s - this script 4.732357 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
RTTNpolymorphism_automatic6.37420116689214e-11simple_aaeaffectedS126Asingle base exchangers3911730show file
RTTNpolymorphism_automatic6.37420116689214e-11simple_aaeaffectedS126Asingle base exchangers3911730show file
RTTNpolymorphism_automatic6.37420116689214e-11simple_aaeaffectedS126Asingle base exchangers3911730show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999936258 (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) chr18:67871343A>CN/A show variant in all transcripts   IGV
HGNC symbol RTTN
Ensembl transcript ID ENST00000255674
Genbank transcript ID NM_173630
UniProt peptide Q86VV8
alteration type single base exchange
alteration region CDS
DNA changes c.376T>G
cDNA.663T>G
g.1839T>G
AA changes S126A Score: 99 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 126
frameshift no
known variant Reference ID: rs3911730
databasehomozygous (C/C)heterozygousallele carriers
1000G15903871977
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3810
-0.1650
(flanking)-0.5050
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 increased1835wt: 0.6554 / mu: 0.6615 (marginal change - not scored)wt: GAAGTTCCTGCACTATCTTCTGCCTCATACCAAACCAATCA
mu: GAAGTTCCTGCACTATCTTCTGCCGCATACCAAACCAATCA		 ttct|GCCT
Acc increased1832wt: 0.57 / mu: 0.66wt: TCGGAAGTTCCTGCACTATCTTCTGCCTCATACCAAACCAA
mu: TCGGAAGTTCCTGCACTATCTTCTGCCGCATACCAAACCAA		 atct|TCTG
Acc marginally increased1840wt: 0.5175 / mu: 0.5529 (marginal change - not scored)wt: TCCTGCACTATCTTCTGCCTCATACCAAACCAATCAAACTG
mu: TCCTGCACTATCTTCTGCCGCATACCAAACCAATCAAACTG		 cctc|ATAC
Donor gained18350.56mu: TCTTCTGCCGCATAC TTCT|gccg
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      126LPSEVPALSSASYQTNQTELSKNP
mutated  all conserved    126ALSSAAYQTNQTELSKN
Ptroglodytes  all identical  ENSPTRG00000010103  126ALSSASYQTNQTELSKN
Mmulatta  all identical  ENSMMUG00000010169  126ALSSASYQTNQTELSKN
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000023066  126ALCSSSYHTDQIELSQQ
Ggallus  no alignment  ENSGALG00000013745  n/a
Trubripes  no alignment  ENSTRUG00000005037  n/a
Drerio  all conserved  ENSDARG00000004131  126CCPPTTSYEPHLQTEEE
Dmelanogaster  all identical  FBgn0033718  140YNIDRVTPSVSSLSSNDIPSQATES
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
241241CONFLICTF -> FG (in Ref. 1; AK096404 and 3; CAH18659).might get lost (downstream of altered splice site)
385385CONFLICTS -> P (in Ref. 3; CAH18659).might get lost (downstream of altered splice site)
402402CONFLICTI -> V (in Ref. 3; CAH18659).might get lost (downstream of altered splice site)
811811MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
839839CONFLICTT -> A (in Ref. 3; CAH18659).might get lost (downstream of altered splice site)
13591359CONFLICTE -> G (in Ref. 1; BAC87292).might get lost (downstream of altered splice site)
15871587CONFLICTS -> G (in Ref. 1; BAC86583).might get lost (downstream of altered splice site)
19341934CONFLICTL -> P (in Ref. 4; AAH46222).might get lost (downstream of altered splice site)
20172017CONFLICTL -> V (in Ref. 3; CAB56025).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 6681 / 6681
position (AA) of stopcodon in wt / mu AA sequence 2227 / 2227
position of stopcodon in wt / mu cDNA 6968 / 6968
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 288 / 288
chromosome 18
strand -1
last intron/exon boundary 6883
theoretical NMD boundary in CDS 6545
length of CDS 6681
coding sequence (CDS) position 376
cDNA position
(for ins/del: last normal base / first normal base)		 663
gDNA position
(for ins/del: last normal base / first normal base)		 1839
chromosomal position
(for ins/del: last normal base / first normal base)		 67871343
original gDNA sequence snippet TTCCTGCACTATCTTCTGCCTCATACCAAACCAATCAAACT
altered gDNA sequence snippet TTCCTGCACTATCTTCTGCCGCATACCAAACCAATCAAACT
original cDNA sequence snippet TTCCTGCACTATCTTCTGCCTCATACCAAACCAATCAAACT
altered cDNA sequence snippet TTCCTGCACTATCTTCTGCCGCATACCAAACCAATCAAACT
wildtype AA sequence MVLAGLIRKL GHQLAEIRER ALKSILCKIE HNLICYADLI QERQLFLHLL EWFNFPSVPM
KEEVLNLLSR LVKYPPAVQH LVDVGAVEFL SKLRSNVEPN LQAEIDGILD GLFLLPSEVP
ALSSASYQTN QTELSKNPEI LTGYFPQDKS NFQQMEVPPR PVVNQTVKCL KFSTFPWLPL
TTTDRHVLSS NESSLRSSNH TLIWNTCELL KDVIMQDFPA EIFLQRPKIV QSLLSLLKLA
FGDGKHRLAL QSVSCLQQLC MYLRNRLNFH RDPGFFSNKH DTVSQNSSLS YCHEARGTHH
SQNPSPGSSS PRPSVVGRTG QRPRGDGQDW DAASSSGSSS HAHVNSRISV HSPLDMGHID
LPELETEDTL ELQFQQLSLP QFCVSILESA VPLLRTGSRQ VIIRVLELLT EDMTLIGEAI
STDIWDDSSL FGIDMKEKLL LVLGALGETM CYHKSSISLE QPEVMLVHHR MAFISISLFA
VRLLQTLLPV EKASEFLSEP MSTALFLLSL DMPISLEYPN IHEAVVAYLE QLNSENYSIY
KRTAEAVYSI ECTCNFLSDI GKEGEKNLLE LVELADQALR SFSYHQHFPL IKEIISICSK
IWKSAQASPL LQGESQKVLL HMLSHPLPRV KAETYHCCLE ITKECLGVHN VTKPVSSLCN
GIHFLLHPKV LYEISVFGIQ EPESEVNTAA KAILLYLLQG RLMMTALTWN KFIESLCPVI
PILQGYADTE DPLGNCILLL SKASSDTEEM LPCTTRLKSM LRLLLVKKPS VRSLALKLLA
FHLTSEEGAD TKRPLIDARV LSRVTDLFIG KKPIELRLDD RRELVIKLET VEKVYEIFTS
DDVDLVLRKS AAEQLAVIMQ DIKMHAVVKK LCLIDKIIEY LNECVSQDGK VVECLVQPCL
TLLRKVLCGD PVMRVSLSQQ SSLLTVLFRV SLIFHEDCSV VTEVGALFCL LLFDEVSRMD
MWSVNPSNKP SLPSVFSLPV SVFRRYHLPV HVIGHHAVSP YSIVLPLSAD CLALKPVSDM
LRIAWNLSWY HGSDNLLKQM NSETKTQEIL DALKLSTEDI LTLKITHMAS GLQDCLHSIV
QAATHREVRA AVTRMSFYLL NDRLSLKGCP GPCGVTLKSL AWHTALNRFL QVLPACTEDE
KLLIDIIHFL NKLIKEQRKN SSLELLNWIL ELLLRHSANP LLDLLVLTES QAREETDDIR
TAVRQQLQKE LIALFDTLLL NFMEVTDRKC SELLYVFQTQ LALKLLQCLK VTDAPHFYGL
PSLERTLRGM ANLTAFPGWS SHSPLTKPLD ICVKYLSGLL EVITSFYVER GGNAMSFMGK
GVTKSTILCL LHLSHEMMAQ AGSLEWMSLW FLPLGSHSEE HIPTQQGLAW LIPLWVDRDP
EVRFTSLGLG SALTTLETGC VALANSCQNI SGGLWGTVVN ILLDQSECSM VRREAAFILQ
NLLVIPMPTE IIKDYTWQGP CVHDEDSGLS LIGKPALQAL LYHCHFYEHL NQMVKHCYLG
RCMFDLNFSA FDRNSESNDL NGLDDSFKFW RAPSRTSQDR DPSSLSTSET TVAPSLGSTE
FQPLVQSTTL LPEASHDQFV AQGHQESTSP RPPHDSSLSA PLPKLCVFVT PSLLSAMCSL
LDNLLTIAPR DTAKAFRQAH LIELLCSIAD ATLIQTCVQE LRALLPSSPP AEHTQAQVSF
LLEYLSSLSR LLQSCLLVEP DLVIQDELVK PLITNIIGIL TICTKDVLDK ELISAFYHTW
THLFNLLAML LRKAGAITLP FVTVALAKHW TAAIDMFCTC AGLSATCPAL YTASLQFLSV
LLTEEAKGHL QAKSKTHLCC SPTVASLLDD SQENQKSLEQ LSDVILQCYE GKSSKDILKR
VAANALMSLL AVSRRAQKHA LKANLIDNCM EQMKHINAQL NLDSLRPGKA ALKKKEDGVI
KELSIAMQLL RNCLYQNEEC KEAALEAHLV PVLHSLWPWI LMDDSLMQIS LQLLCVYTAN
FPNGCSSLCW SSCGQHPVQA THRGAVSNSL MLCILKLASQ MPLENTTVQQ MVFMLLSNLA
LSHDCKGVIQ KSNFLQNFLS LALPKGGNKH LSNLTILWLK LLLNISSGED GQQMILRLDG
CLDLLTEMSK YKHKSSPLLP LLIFHNVCFS PANKPKILAN EKVITVLAAC LESENQNAQR
IGAAALWALI YNYQKAKTAL KSPSVKRRVD EAYSLAKKTF PNSEANPLNA YYLKCLENLV
QLLNSS*
mutated AA sequence MVLAGLIRKL GHQLAEIRER ALKSILCKIE HNLICYADLI QERQLFLHLL EWFNFPSVPM
KEEVLNLLSR LVKYPPAVQH LVDVGAVEFL SKLRSNVEPN LQAEIDGILD GLFLLPSEVP
ALSSAAYQTN QTELSKNPEI LTGYFPQDKS NFQQMEVPPR PVVNQTVKCL KFSTFPWLPL
TTTDRHVLSS NESSLRSSNH TLIWNTCELL KDVIMQDFPA EIFLQRPKIV QSLLSLLKLA
FGDGKHRLAL QSVSCLQQLC MYLRNRLNFH RDPGFFSNKH DTVSQNSSLS YCHEARGTHH
SQNPSPGSSS PRPSVVGRTG QRPRGDGQDW DAASSSGSSS HAHVNSRISV HSPLDMGHID
LPELETEDTL ELQFQQLSLP QFCVSILESA VPLLRTGSRQ VIIRVLELLT EDMTLIGEAI
STDIWDDSSL FGIDMKEKLL LVLGALGETM CYHKSSISLE QPEVMLVHHR MAFISISLFA
VRLLQTLLPV EKASEFLSEP MSTALFLLSL DMPISLEYPN IHEAVVAYLE QLNSENYSIY
KRTAEAVYSI ECTCNFLSDI GKEGEKNLLE LVELADQALR SFSYHQHFPL IKEIISICSK
IWKSAQASPL LQGESQKVLL HMLSHPLPRV KAETYHCCLE ITKECLGVHN VTKPVSSLCN
GIHFLLHPKV LYEISVFGIQ EPESEVNTAA KAILLYLLQG RLMMTALTWN KFIESLCPVI
PILQGYADTE DPLGNCILLL SKASSDTEEM LPCTTRLKSM LRLLLVKKPS VRSLALKLLA
FHLTSEEGAD TKRPLIDARV LSRVTDLFIG KKPIELRLDD RRELVIKLET VEKVYEIFTS
DDVDLVLRKS AAEQLAVIMQ DIKMHAVVKK LCLIDKIIEY LNECVSQDGK VVECLVQPCL
TLLRKVLCGD PVMRVSLSQQ SSLLTVLFRV SLIFHEDCSV VTEVGALFCL LLFDEVSRMD
MWSVNPSNKP SLPSVFSLPV SVFRRYHLPV HVIGHHAVSP YSIVLPLSAD CLALKPVSDM
LRIAWNLSWY HGSDNLLKQM NSETKTQEIL DALKLSTEDI LTLKITHMAS GLQDCLHSIV
QAATHREVRA AVTRMSFYLL NDRLSLKGCP GPCGVTLKSL AWHTALNRFL QVLPACTEDE
KLLIDIIHFL NKLIKEQRKN SSLELLNWIL ELLLRHSANP LLDLLVLTES QAREETDDIR
TAVRQQLQKE LIALFDTLLL NFMEVTDRKC SELLYVFQTQ LALKLLQCLK VTDAPHFYGL
PSLERTLRGM ANLTAFPGWS SHSPLTKPLD ICVKYLSGLL EVITSFYVER GGNAMSFMGK
GVTKSTILCL LHLSHEMMAQ AGSLEWMSLW FLPLGSHSEE HIPTQQGLAW LIPLWVDRDP
EVRFTSLGLG SALTTLETGC VALANSCQNI SGGLWGTVVN ILLDQSECSM VRREAAFILQ
NLLVIPMPTE IIKDYTWQGP CVHDEDSGLS LIGKPALQAL LYHCHFYEHL NQMVKHCYLG
RCMFDLNFSA FDRNSESNDL NGLDDSFKFW RAPSRTSQDR DPSSLSTSET TVAPSLGSTE
FQPLVQSTTL LPEASHDQFV AQGHQESTSP RPPHDSSLSA PLPKLCVFVT PSLLSAMCSL
LDNLLTIAPR DTAKAFRQAH LIELLCSIAD ATLIQTCVQE LRALLPSSPP AEHTQAQVSF
LLEYLSSLSR LLQSCLLVEP DLVIQDELVK PLITNIIGIL TICTKDVLDK ELISAFYHTW
THLFNLLAML LRKAGAITLP FVTVALAKHW TAAIDMFCTC AGLSATCPAL YTASLQFLSV
LLTEEAKGHL QAKSKTHLCC SPTVASLLDD SQENQKSLEQ LSDVILQCYE GKSSKDILKR
VAANALMSLL AVSRRAQKHA LKANLIDNCM EQMKHINAQL NLDSLRPGKA ALKKKEDGVI
KELSIAMQLL RNCLYQNEEC KEAALEAHLV PVLHSLWPWI LMDDSLMQIS LQLLCVYTAN
FPNGCSSLCW SSCGQHPVQA THRGAVSNSL MLCILKLASQ MPLENTTVQQ MVFMLLSNLA
LSHDCKGVIQ KSNFLQNFLS LALPKGGNKH LSNLTILWLK LLLNISSGED GQQMILRLDG
CLDLLTEMSK YKHKSSPLLP LLIFHNVCFS PANKPKILAN EKVITVLAAC LESENQNAQR
IGAAALWALI YNYQKAKTAL KSPSVKRRVD EAYSLAKKTF PNSEANPLNA YYLKCLENLV
QLLNSS*
speed 1.21 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999936258 (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) chr18:67871343A>CN/A show variant in all transcripts   IGV
HGNC symbol RTTN
Ensembl transcript ID ENST00000437017
Genbank transcript ID N/A
UniProt peptide Q86VV8
alteration type single base exchange
alteration region CDS
DNA changes c.376T>G
cDNA.444T>G
g.1839T>G
AA changes S126A Score: 99 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 126
frameshift no
known variant Reference ID: rs3911730
databasehomozygous (C/C)heterozygousallele carriers
1000G15903871977
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3810
-0.1650
(flanking)-0.5050
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 increased1835wt: 0.6554 / mu: 0.6615 (marginal change - not scored)wt: GAAGTTCCTGCACTATCTTCTGCCTCATACCAAACCAATCA
mu: GAAGTTCCTGCACTATCTTCTGCCGCATACCAAACCAATCA		 ttct|GCCT
Acc increased1832wt: 0.57 / mu: 0.66wt: TCGGAAGTTCCTGCACTATCTTCTGCCTCATACCAAACCAA
mu: TCGGAAGTTCCTGCACTATCTTCTGCCGCATACCAAACCAA		 atct|TCTG
Acc marginally increased1840wt: 0.5175 / mu: 0.5529 (marginal change - not scored)wt: TCCTGCACTATCTTCTGCCTCATACCAAACCAATCAAACTG
mu: TCCTGCACTATCTTCTGCCGCATACCAAACCAATCAAACTG		 cctc|ATAC
Donor gained18350.56mu: TCTTCTGCCGCATAC TTCT|gccg
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      126LPSEVPALSSASYQTNQTELSKNP
mutated  all conserved    126ALSSAAYQTNQTELSKN
Ptroglodytes  all identical  ENSPTRG00000010103  126ALSSASYQTNQTELSKN
Mmulatta  all identical  ENSMMUG00000010169  126ALSSASYQTNQTELSKN
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000023066  126ALCSSSYHTDQIELSQQ
Ggallus  no alignment  ENSGALG00000013745  n/a
Trubripes  no alignment  ENSTRUG00000005037  n/a
Drerio  all conserved  ENSDARG00000004131  126CCPPTTSYEPHLQTEEE
Dmelanogaster  all identical  FBgn0033718  140YNIDRVTPSVSSLSSNDIPSQATES
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
241241CONFLICTF -> FG (in Ref. 1; AK096404 and 3; CAH18659).might get lost (downstream of altered splice site)
385385CONFLICTS -> P (in Ref. 3; CAH18659).might get lost (downstream of altered splice site)
402402CONFLICTI -> V (in Ref. 3; CAH18659).might get lost (downstream of altered splice site)
811811MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
839839CONFLICTT -> A (in Ref. 3; CAH18659).might get lost (downstream of altered splice site)
13591359CONFLICTE -> G (in Ref. 1; BAC87292).might get lost (downstream of altered splice site)
15871587CONFLICTS -> G (in Ref. 1; BAC86583).might get lost (downstream of altered splice site)
19341934CONFLICTL -> P (in Ref. 4; AAH46222).might get lost (downstream of altered splice site)
20172017CONFLICTL -> V (in Ref. 3; CAB56025).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4782 / 4782
position (AA) of stopcodon in wt / mu AA sequence 1594 / 1594
position of stopcodon in wt / mu cDNA 4850 / 4850
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 69 / 69
chromosome 18
strand -1
last intron/exon boundary 4816
theoretical NMD boundary in CDS 4697
length of CDS 4782
coding sequence (CDS) position 376
cDNA position
(for ins/del: last normal base / first normal base)		 444
gDNA position
(for ins/del: last normal base / first normal base)		 1839
chromosomal position
(for ins/del: last normal base / first normal base)		 67871343
original gDNA sequence snippet TTCCTGCACTATCTTCTGCCTCATACCAAACCAATCAAACT
altered gDNA sequence snippet TTCCTGCACTATCTTCTGCCGCATACCAAACCAATCAAACT
original cDNA sequence snippet TTCCTGCACTATCTTCTGCCTCATACCAAACCAATCAAACT
altered cDNA sequence snippet TTCCTGCACTATCTTCTGCCGCATACCAAACCAATCAAACT
wildtype AA sequence MVLAGLIRKL GHQLAEIRER ALKSILCKIE HNLICYADLI QERQLFLHLL EWFNFPSVPM
KEEVLNLLSR LVKYPPAVQH LVDVGAVEFL SKLRSNVEPN LQAEIDGILD GLFLLPSEVP
ALSSASYQTN QTELSKNPEI LTGYFPQDKS NFQQMEVPPR PVVNQTVKCL KFSTFPWLPL
TTTDRHVLSS NESSLRSSNH TLIWNTCELL KDVIMQDFPA EIFLQRPKIV QSLLSLLKLA
FGDGKHRLAL QSVSCLQQLC MYLRNRLNFH RDPGFFSNKH DTVSQNSSLS YCHEARGTHH
SQNPSPGSSS PRPSVVGRTG QRPRGDGQDW DAASSSGSSS HAHVNSRISV HSPLDMGHID
LPELETEDTL ELQFQQLSLP QFCVSILESA VPLLRTGSRQ VIIRVLELLT EDMTLIGEAI
STDIWDDSSL FGIDMKEKLL LVLGALGETM CYHKSSISLE QPEVMLVHHR MAFISISLFA
VRLLQTLLPV EKASEFLSEP MSTALFLLSL DMPISLEYPN IHEAVVAYLE QLNSENYSIY
KRTAEAVYSI ECTCNFLSDI GKEGEKNLLE LVELADQALR SFSYHQHFPL IKEIISICSK
IWKSAQASPL LQGESQKVLL HMLSHPLPRV KAETYHCCLE ITKECLGVHN VTKPVSSLCN
GIHFLLHPKV LYEISVFGIQ EPESEVNTAA KAILLYLLQG RLMMTALTWN KFIESLCPVI
PILQGYADTE DPLGNCILLL SKASSDTEEM LPCTTRLKSM LRLLLVKKPS VRSLALKLLA
FHLTSEEGAD TKRPLIDARV LSRVTDLFIG KKPIELRLDD RRELVIKLET VEKVYEIFTS
DDVDLVLRKS AAEQLAVIMQ DIKMHAVVKK LCLIDKIIEY LNECVSQDGK VVECLVQPCL
TLLRKVLCGD PVMRVSLSQQ SSLLTVLFRV SLIFHEDCSV VTEVGALFCL LLFDEVSRMD
MWSVNPSNKP SLPSVFSLPV SVFRRYHLPV HVIGHHAVSP YSIVLPLSAD CLALKPVSDM
LRIAWNLSWY HGSDNLLKQM NSETKTQEIL DALKLSTEDI LTLKITHMAS GLQDCLHSIV
QAATHREVRA AVTRMSFYLL NDRLSLKGCP GPCGVTLKSL AWHTALNRFL QVLPACTEDE
KLLIDIIHFL NKLIKEQRKN SSLELLNWIL ELLLRHSANP LLDLLVLTES QAREETDDIR
TAVRQQLQKE LIALFDTLLL NFMEVTDRKC SELLYVFQTQ LALKLLQCLK VTDAPHFYGL
PSLERTLRGM ANLTAFPGWS SHSPLTKPLD ICVKYLSGLL EVITSFYVER GGNAMSFMGK
GVTKSTILCL LHLSHEMMAQ AGSLEWMSLW FLPLGSHSEE HIPTQQGLAW LIPLWVDRDP
EVRFTSLGLG SALTTLETGC VALANSCQNI SGGLWGTVVN ILLDQSECSM VRREAAFILQ
NLLVIPMPTE IIKDYTWQGP CVHDEDSGLS LIGKPALQAL LYHCHFYEHL NQMVKHCYLG
RCMFDLNFSA FDRNSESNDL NGLDDSFKFW RAPSRTSQDR DPSSLSTSET TVAPSLGSTE
FQPLVQSTTL LPEASHDQFV AQGNRHFGTN IQF*
mutated AA sequence MVLAGLIRKL GHQLAEIRER ALKSILCKIE HNLICYADLI QERQLFLHLL EWFNFPSVPM
KEEVLNLLSR LVKYPPAVQH LVDVGAVEFL SKLRSNVEPN LQAEIDGILD GLFLLPSEVP
ALSSAAYQTN QTELSKNPEI LTGYFPQDKS NFQQMEVPPR PVVNQTVKCL KFSTFPWLPL
TTTDRHVLSS NESSLRSSNH TLIWNTCELL KDVIMQDFPA EIFLQRPKIV QSLLSLLKLA
FGDGKHRLAL QSVSCLQQLC MYLRNRLNFH RDPGFFSNKH DTVSQNSSLS YCHEARGTHH
SQNPSPGSSS PRPSVVGRTG QRPRGDGQDW DAASSSGSSS HAHVNSRISV HSPLDMGHID
LPELETEDTL ELQFQQLSLP QFCVSILESA VPLLRTGSRQ VIIRVLELLT EDMTLIGEAI
STDIWDDSSL FGIDMKEKLL LVLGALGETM CYHKSSISLE QPEVMLVHHR MAFISISLFA
VRLLQTLLPV EKASEFLSEP MSTALFLLSL DMPISLEYPN IHEAVVAYLE QLNSENYSIY
KRTAEAVYSI ECTCNFLSDI GKEGEKNLLE LVELADQALR SFSYHQHFPL IKEIISICSK
IWKSAQASPL LQGESQKVLL HMLSHPLPRV KAETYHCCLE ITKECLGVHN VTKPVSSLCN
GIHFLLHPKV LYEISVFGIQ EPESEVNTAA KAILLYLLQG RLMMTALTWN KFIESLCPVI
PILQGYADTE DPLGNCILLL SKASSDTEEM LPCTTRLKSM LRLLLVKKPS VRSLALKLLA
FHLTSEEGAD TKRPLIDARV LSRVTDLFIG KKPIELRLDD RRELVIKLET VEKVYEIFTS
DDVDLVLRKS AAEQLAVIMQ DIKMHAVVKK LCLIDKIIEY LNECVSQDGK VVECLVQPCL
TLLRKVLCGD PVMRVSLSQQ SSLLTVLFRV SLIFHEDCSV VTEVGALFCL LLFDEVSRMD
MWSVNPSNKP SLPSVFSLPV SVFRRYHLPV HVIGHHAVSP YSIVLPLSAD CLALKPVSDM
LRIAWNLSWY HGSDNLLKQM NSETKTQEIL DALKLSTEDI LTLKITHMAS GLQDCLHSIV
QAATHREVRA AVTRMSFYLL NDRLSLKGCP GPCGVTLKSL AWHTALNRFL QVLPACTEDE
KLLIDIIHFL NKLIKEQRKN SSLELLNWIL ELLLRHSANP LLDLLVLTES QAREETDDIR
TAVRQQLQKE LIALFDTLLL NFMEVTDRKC SELLYVFQTQ LALKLLQCLK VTDAPHFYGL
PSLERTLRGM ANLTAFPGWS SHSPLTKPLD ICVKYLSGLL EVITSFYVER GGNAMSFMGK
GVTKSTILCL LHLSHEMMAQ AGSLEWMSLW FLPLGSHSEE HIPTQQGLAW LIPLWVDRDP
EVRFTSLGLG SALTTLETGC VALANSCQNI SGGLWGTVVN ILLDQSECSM VRREAAFILQ
NLLVIPMPTE IIKDYTWQGP CVHDEDSGLS LIGKPALQAL LYHCHFYEHL NQMVKHCYLG
RCMFDLNFSA FDRNSESNDL NGLDDSFKFW RAPSRTSQDR DPSSLSTSET TVAPSLGSTE
FQPLVQSTTL LPEASHDQFV AQGNRHFGTN IQF*
speed 0.84 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
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999936258 (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) chr18:67871343A>CN/A show variant in all transcripts   IGV
HGNC symbol RTTN
Ensembl transcript ID ENST00000454359
Genbank transcript ID N/A
UniProt peptide Q86VV8
alteration type single base exchange
alteration region CDS
DNA changes c.376T>G
cDNA.444T>G
g.1839T>G
AA changes S126A Score: 99 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 126
frameshift no
known variant Reference ID: rs3911730
databasehomozygous (C/C)heterozygousallele carriers
1000G15903871977
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3810
-0.1650
(flanking)-0.5050
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 increased1835wt: 0.6554 / mu: 0.6615 (marginal change - not scored)wt: GAAGTTCCTGCACTATCTTCTGCCTCATACCAAACCAATCA
mu: GAAGTTCCTGCACTATCTTCTGCCGCATACCAAACCAATCA		 ttct|GCCT
Acc increased1832wt: 0.57 / mu: 0.66wt: TCGGAAGTTCCTGCACTATCTTCTGCCTCATACCAAACCAA
mu: TCGGAAGTTCCTGCACTATCTTCTGCCGCATACCAAACCAA		 atct|TCTG
Acc marginally increased1840wt: 0.5175 / mu: 0.5529 (marginal change - not scored)wt: TCCTGCACTATCTTCTGCCTCATACCAAACCAATCAAACTG
mu: TCCTGCACTATCTTCTGCCGCATACCAAACCAATCAAACTG		 cctc|ATAC
Donor gained18350.56mu: TCTTCTGCCGCATAC TTCT|gccg
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      126LPSEVPALSSASYQTNQTELSKNP
mutated  all conserved    126ALSSAAYQTNQTELSKN
Ptroglodytes  all identical  ENSPTRG00000010103  126ALSSASYQTNQTELSKN
Mmulatta  all identical  ENSMMUG00000010169  126ALSSASYQTNQTELSKN
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000023066  126ALCSSSYHTDQIELSQQ
Ggallus  no alignment  ENSGALG00000013745  n/a
Trubripes  no alignment  ENSTRUG00000005037  n/a
Drerio  all conserved  ENSDARG00000004131  126CCPPTTSYEPHLQTEEE
Dmelanogaster  all identical  FBgn0033718  140YNIDRVTPSVSSLSSNDIPSQATES
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
241241CONFLICTF -> FG (in Ref. 1; AK096404 and 3; CAH18659).might get lost (downstream of altered splice site)
385385CONFLICTS -> P (in Ref. 3; CAH18659).might get lost (downstream of altered splice site)
402402CONFLICTI -> V (in Ref. 3; CAH18659).might get lost (downstream of altered splice site)
811811MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
839839CONFLICTT -> A (in Ref. 3; CAH18659).might get lost (downstream of altered splice site)
13591359CONFLICTE -> G (in Ref. 1; BAC87292).might get lost (downstream of altered splice site)
15871587CONFLICTS -> G (in Ref. 1; BAC86583).might get lost (downstream of altered splice site)
19341934CONFLICTL -> P (in Ref. 4; AAH46222).might get lost (downstream of altered splice site)
20172017CONFLICTL -> V (in Ref. 3; CAB56025).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2640 / 2640
position (AA) of stopcodon in wt / mu AA sequence 880 / 880
position of stopcodon in wt / mu cDNA 2708 / 2708
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 69 / 69
chromosome 18
strand -1
last intron/exon boundary 6575
theoretical NMD boundary in CDS 6456
length of CDS 2640
coding sequence (CDS) position 376
cDNA position
(for ins/del: last normal base / first normal base)		 444
gDNA position
(for ins/del: last normal base / first normal base)		 1839
chromosomal position
(for ins/del: last normal base / first normal base)		 67871343
original gDNA sequence snippet TTCCTGCACTATCTTCTGCCTCATACCAAACCAATCAAACT
altered gDNA sequence snippet TTCCTGCACTATCTTCTGCCGCATACCAAACCAATCAAACT
original cDNA sequence snippet TTCCTGCACTATCTTCTGCCTCATACCAAACCAATCAAACT
altered cDNA sequence snippet TTCCTGCACTATCTTCTGCCGCATACCAAACCAATCAAACT
wildtype AA sequence MVLAGLIRKL GHQLAEIRER ALKSILCKIE HNLICYADLI QERQLFLHLL EWFNFPSVPM
KEEVLNLLSR LVKYPPAVQH LVDVGAVEFL SKLRSNVEPN LQAEIDGILD GLFLLPSEVP
ALSSASYQTN QTELSKNPEI LTGYFPQDKS NFQQMEVPPR PVVNQTVKCL KFSTFPWLPL
TTTDRHVLSS NESSLRSSNH TLIWNTCELL KDVIMQDFPA EIFLQRPKIV QSLLSLLKLA
FGDGKHRLAL QSVSCLQQLC MYLRNRLNFH RDPGFFSNKH DTVSQNSSLS YCHEARGTHH
SQNPSPGSSS PRPSVVGRTG QRPRGDGQDW DAASSSGSSS HAHVNSRISV HSPLDMGHID
LPELETEDTL ELQFQQLSLP QFCVSILESA VPLLRTGSRQ VIIRVLELLT EDMTLIGEAI
STDIWDDSSL FGIDMKEKLL LVLGALGETM CYHKSSISLE QPEVMLVHHR MAFISISLFA
VRLLQTLLPV EKASEFLSEP MSTALFLLSL DMPISLEYPN IHEAVVAYLE QLNSENYSIY
KRTAEAVYSI ECTCNFLSDI GKEGEKNLLE LVELADQALR SFSYHQHFPL IKEIISICSK
IWKSAQASPL LQGESQKVLL HMLSHPLPRV KAETYHCCLE ITKECLGVHN VTKPVSSLCN
GIHFLLHPKV LYEISVFGIQ EPESEVNTAA KAILLYLLQG RLMMTALTWN KFIESLCPVI
PILQGYADTE DPLGNCILLL SKASSDTEEM LPCTTRLKSM LRLLLVKKPS VRSLALKLLA
FHLTSEEGAD TKRPLIDARV LSRVTDLFIG KKPIELRLDD RRELVIKLET VEKVYEIFTS
DDVDLVLRKS AAEQLAVIMQ GCRMFGTTMP HTLEEGFMW*
mutated AA sequence MVLAGLIRKL GHQLAEIRER ALKSILCKIE HNLICYADLI QERQLFLHLL EWFNFPSVPM
KEEVLNLLSR LVKYPPAVQH LVDVGAVEFL SKLRSNVEPN LQAEIDGILD GLFLLPSEVP
ALSSAAYQTN QTELSKNPEI LTGYFPQDKS NFQQMEVPPR PVVNQTVKCL KFSTFPWLPL
TTTDRHVLSS NESSLRSSNH TLIWNTCELL KDVIMQDFPA EIFLQRPKIV QSLLSLLKLA
FGDGKHRLAL QSVSCLQQLC MYLRNRLNFH RDPGFFSNKH DTVSQNSSLS YCHEARGTHH
SQNPSPGSSS PRPSVVGRTG QRPRGDGQDW DAASSSGSSS HAHVNSRISV HSPLDMGHID
LPELETEDTL ELQFQQLSLP QFCVSILESA VPLLRTGSRQ VIIRVLELLT EDMTLIGEAI
STDIWDDSSL FGIDMKEKLL LVLGALGETM CYHKSSISLE QPEVMLVHHR MAFISISLFA
VRLLQTLLPV EKASEFLSEP MSTALFLLSL DMPISLEYPN IHEAVVAYLE QLNSENYSIY
KRTAEAVYSI ECTCNFLSDI GKEGEKNLLE LVELADQALR SFSYHQHFPL IKEIISICSK
IWKSAQASPL LQGESQKVLL HMLSHPLPRV KAETYHCCLE ITKECLGVHN VTKPVSSLCN
GIHFLLHPKV LYEISVFGIQ EPESEVNTAA KAILLYLLQG RLMMTALTWN KFIESLCPVI
PILQGYADTE DPLGNCILLL SKASSDTEEM LPCTTRLKSM LRLLLVKKPS VRSLALKLLA
FHLTSEEGAD TKRPLIDARV LSRVTDLFIG KKPIELRLDD RRELVIKLET VEKVYEIFTS
DDVDLVLRKS AAEQLAVIMQ GCRMFGTTMP HTLEEGFMW*
speed 1.26 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
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Problems