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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000263801
Querying Taster for transcript #2: ENST00000382039
Querying Taster for transcript #3: ENST00000382044
Querying Taster for transcript #4: ENST00000450115
MT speed 0 s - this script 4.9656 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
TP53BP1polymorphism_automatic1.68662303012823e-07simple_aaeK1136Qsingle base exchangers2602141show file
TP53BP1polymorphism_automatic1.68662303012823e-07simple_aaeK1141Qsingle base exchangers2602141show file
TP53BP1polymorphism_automatic1.68662303012823e-07simple_aaeK1141Qsingle base exchangers2602141show file
TP53BP1polymorphism_automatic1.68662303012823e-07simple_aaeK1141Qsingle base exchangers2602141show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999831337697 (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 CM067476)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:43724646T>GN/A show variant in all transcripts   IGV
HGNC symbol TP53BP1
Ensembl transcript ID ENST00000263801
Genbank transcript ID NM_005657
UniProt peptide Q12888
alteration type single base exchange
alteration region CDS
DNA changes c.3406A>C
cDNA.3659A>C
g.78281A>C
AA changes K1136Q Score: 53 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1136
frameshift no
known variant Reference ID: rs2602141
databasehomozygous (G/G)heterozygousallele carriers
1000G8689001768
ExAC102441227922523

known disease mutation at this position, please check HGMD for details (HGMD ID CM067476)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.130.999
1.6050.995
(flanking)0.480.225
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 increased78282wt: 0.9979 / mu: 0.9981 (marginal change - not scored)wt: TAATAAGGAAAATCC
mu: TAATCAGGAAAATCC		 ATAA|ggaa
Donor marginally increased78283wt: 0.9927 / mu: 0.9945 (marginal change - not scored)wt: AATAAGGAAAATCCT
mu: AATCAGGAAAATCCT		 TAAG|gaaa
distance from splice site 230
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1136LEDQKEGRSTNKENPSKALIERPS
mutated  all conserved    1136LEDQKEGRSTNQENPS
Ptroglodytes  all conserved  ENSPTRG00000006994  1141LEDQKEGRSTNQENPS
Mmulatta  all conserved  ENSMMUG00000017078  1135LEDQKEGRNTNQENPS
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000043909  1135--GLAANQDRPSKMLMDRP
Ggallus  all conserved  ENSGALG00000008521  1145VTTQIEEGARMQQKPSEV
Trubripes  not conserved  ENSTRUG00000013399  1031NARQTFDQSNTSSPPIKV---SP
Drerio  not conserved  ENSDARG00000079000  1001VSLNPGALEADSEALVSGLLS-P
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5919 / 5919
position (AA) of stopcodon in wt / mu AA sequence 1973 / 1973
position of stopcodon in wt / mu cDNA 6172 / 6172
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 254 / 254
chromosome 15
strand -1
last intron/exon boundary 5985
theoretical NMD boundary in CDS 5681
length of CDS 5919
coding sequence (CDS) position 3406
cDNA position
(for ins/del: last normal base / first normal base)		 3659
gDNA position
(for ins/del: last normal base / first normal base)		 78281
chromosomal position
(for ins/del: last normal base / first normal base)		 43724646
original gDNA sequence snippet AAGAAGGACGGAGTACTAATAAGGAAAATCCTAGTAAGGCC
altered gDNA sequence snippet AAGAAGGACGGAGTACTAATCAGGAAAATCCTAGTAAGGCC
original cDNA sequence snippet AAGAAGGACGGAGTACTAATAAGGAAAATCCTAGTAAGGCC
altered cDNA sequence snippet AAGAAGGACGGAGTACTAATCAGGAAAATCCTAGTAAGGCC
wildtype AA sequence MDPTGSQLDS DFSQQDTPCL IIEDSQPESQ VLEDDSGSHF SMLSRHLPNL QTHKENPVLD
VVSNPEQTAG EERGDGNSGF NEHLKENKVA DPVDSSNLDT CGSISQVIEQ LPQPNRTSSV
LGMSVESAPA VEEEKGEELE QKEKEKEEDT SGNTTHSLGA EDTASSQLGF GVLELSQSQD
VEENTVPYEV DKEQLQSVTT NSGYTRLSDV DANTAIKHEE QSNEDIPIAE QSSKDIPVTA
QPSKDVHVVK EQNPPPARSE DMPFSPKASV AAMEAKEQLS AQELMESGLQ IQKSPEPEVL
STQEDLFDQS NKTVSSDGCS TPSREEGGCS LASTPATTLH LLQLSGQRSL VQDSLSTNSS
DLVAPSPDAF RSTPFIVPSS PTEQEGRQDK PMDTSVLSEE GGEPFQKKLQ SGEPVELENP
PLLPESTVSP QASTPISQST PVFPPGSLPI PSQPQFSHDI FIPSPSLEEQ SNDGKKDGDM
HSSSLTVECS KTSEIEPKNS PEDLGLSLTG DSCKLMLSTS EYSQSPKMES LSSHRIDEDG
ENTQIEDTEP MSPVLNSKFV PAENDSILMN PAQDGEVQLS QNDDKTKGDD TDTRDDISIL
ATGCKGREET VAEDVCIDLT CDSGSQAVPS PATRSEALSS VLDQEEAMEI KEHHPEEGSS
GSEVEEIPET PCESQGEELK EENMESVPLH LSLTETQSQG LCLQKEMPKK ECSEAMEVET
SVISIDSPQK LAILDQELEH KEQEAWEEAT SEDSSVVIVD VKEPSPRVDV SCEPLEGVEK
CSDSQSWEDI APEIEPCAEN RLDTKEEKSV EYEGDLKSGT AETEPVEQDS SQPSLPLVRA
DDPLRLDQEL QQPQTQEKTS NSLTEDSKMA NAKQLSSDAE AQKLGKPSAH ASQSFCESSS
ETPFHFTLPK EGDIIPPLTG ATPPLIGHLK LEPKRHSTPI GISNYPESTI ATSDVMSESM
VETHDPILGS GKGDSGAAPD VDDKLCLRMK LVSPETEASE ESLQFNLEKP ATGERKNGST
AVAESVASPQ KTMSVLSCIC EARQENEARS EDPPTTPIRG NLLHFPSSQG EEEKEKLEGD
HTIRQSQQPM KPISPVKDPV SPASQKMVIQ GPSSPQGEAM VTDVLEDQKE GRSTNKENPS
KALIERPSQN NIGIQTMECS LRVPETVSAA TQTIKNVCEQ GTSTVDQNFG KQDATVQTER
GSGEKPVSAP GDDTESLHSQ GEEEFDMPQP PHGHVLHRHM RTIREVRTLV TRVITDVYYV
DGTEVERKVT EETEEPIVEC QECETEVSPS QTGGSSGDLG DISSFSSKAS SLHRTSSGTS
LSAMHSSGSS GKGAGPLRGK TSGTEPADFA LPSSRGGPGK LSPRKGVSQT GTPVCEEDGD
AGLGIRQGGK APVTPRGRGR RGRPPSRTTG TRETAVPGPL GIEDISPNLS PDDKSFSRVV
PRVPDSTRRT DVGAGALRRS DSPEIPFQAA AGPSDGLDAS SPGNSFVGLR VVAKWSSNGY
FYSGKITRDV GAGKYKLLFD DGYECDVLGK DILLCDPIPL DTEVTALSED EYFSAGVVKG
HRKESGELYY SIEKEGQRKW YKRMAVILSL EQGNRLREQY GLGPYEAVTP LTKAADISLD
NLVEGKRKRR SNVSSPATPT ASSSSSTTPT RKITESPRAS MGVLSGKRKL ITSEEERSPA
KRGRKSATVK PGAVGAGEFV SPCESGDNTG EPSALEEQRG PLPLNKTLFL GYAFLLTMAT
TSDKLASRSK LPDGPTGSSE EEEEFLEIPP FNKQYTESQL RAGAGYILED FNEAQCNTAY
QCLLIADQHC RTRKYFLCLA SGIPCVSHVW VHDSCHANQL QNYRNYLLPA GYSLEEQRIL
DWQPRENPFQ NLKVLLVSDQ QQNFLELWSE ILMTGGAASV KQHHSSAHNK DIALGVFDVV
VTDPSCPASV LKCAEALQLP VVSQEWVIQC LIVGERIGFK QHPKYKHDYV SH*
mutated AA sequence MDPTGSQLDS DFSQQDTPCL IIEDSQPESQ VLEDDSGSHF SMLSRHLPNL QTHKENPVLD
VVSNPEQTAG EERGDGNSGF NEHLKENKVA DPVDSSNLDT CGSISQVIEQ LPQPNRTSSV
LGMSVESAPA VEEEKGEELE QKEKEKEEDT SGNTTHSLGA EDTASSQLGF GVLELSQSQD
VEENTVPYEV DKEQLQSVTT NSGYTRLSDV DANTAIKHEE QSNEDIPIAE QSSKDIPVTA
QPSKDVHVVK EQNPPPARSE DMPFSPKASV AAMEAKEQLS AQELMESGLQ IQKSPEPEVL
STQEDLFDQS NKTVSSDGCS TPSREEGGCS LASTPATTLH LLQLSGQRSL VQDSLSTNSS
DLVAPSPDAF RSTPFIVPSS PTEQEGRQDK PMDTSVLSEE GGEPFQKKLQ SGEPVELENP
PLLPESTVSP QASTPISQST PVFPPGSLPI PSQPQFSHDI FIPSPSLEEQ SNDGKKDGDM
HSSSLTVECS KTSEIEPKNS PEDLGLSLTG DSCKLMLSTS EYSQSPKMES LSSHRIDEDG
ENTQIEDTEP MSPVLNSKFV PAENDSILMN PAQDGEVQLS QNDDKTKGDD TDTRDDISIL
ATGCKGREET VAEDVCIDLT CDSGSQAVPS PATRSEALSS VLDQEEAMEI KEHHPEEGSS
GSEVEEIPET PCESQGEELK EENMESVPLH LSLTETQSQG LCLQKEMPKK ECSEAMEVET
SVISIDSPQK LAILDQELEH KEQEAWEEAT SEDSSVVIVD VKEPSPRVDV SCEPLEGVEK
CSDSQSWEDI APEIEPCAEN RLDTKEEKSV EYEGDLKSGT AETEPVEQDS SQPSLPLVRA
DDPLRLDQEL QQPQTQEKTS NSLTEDSKMA NAKQLSSDAE AQKLGKPSAH ASQSFCESSS
ETPFHFTLPK EGDIIPPLTG ATPPLIGHLK LEPKRHSTPI GISNYPESTI ATSDVMSESM
VETHDPILGS GKGDSGAAPD VDDKLCLRMK LVSPETEASE ESLQFNLEKP ATGERKNGST
AVAESVASPQ KTMSVLSCIC EARQENEARS EDPPTTPIRG NLLHFPSSQG EEEKEKLEGD
HTIRQSQQPM KPISPVKDPV SPASQKMVIQ GPSSPQGEAM VTDVLEDQKE GRSTNQENPS
KALIERPSQN NIGIQTMECS LRVPETVSAA TQTIKNVCEQ GTSTVDQNFG KQDATVQTER
GSGEKPVSAP GDDTESLHSQ GEEEFDMPQP PHGHVLHRHM RTIREVRTLV TRVITDVYYV
DGTEVERKVT EETEEPIVEC QECETEVSPS QTGGSSGDLG DISSFSSKAS SLHRTSSGTS
LSAMHSSGSS GKGAGPLRGK TSGTEPADFA LPSSRGGPGK LSPRKGVSQT GTPVCEEDGD
AGLGIRQGGK APVTPRGRGR RGRPPSRTTG TRETAVPGPL GIEDISPNLS PDDKSFSRVV
PRVPDSTRRT DVGAGALRRS DSPEIPFQAA AGPSDGLDAS SPGNSFVGLR VVAKWSSNGY
FYSGKITRDV GAGKYKLLFD DGYECDVLGK DILLCDPIPL DTEVTALSED EYFSAGVVKG
HRKESGELYY SIEKEGQRKW YKRMAVILSL EQGNRLREQY GLGPYEAVTP LTKAADISLD
NLVEGKRKRR SNVSSPATPT ASSSSSTTPT RKITESPRAS MGVLSGKRKL ITSEEERSPA
KRGRKSATVK PGAVGAGEFV SPCESGDNTG EPSALEEQRG PLPLNKTLFL GYAFLLTMAT
TSDKLASRSK LPDGPTGSSE EEEEFLEIPP FNKQYTESQL RAGAGYILED FNEAQCNTAY
QCLLIADQHC RTRKYFLCLA SGIPCVSHVW VHDSCHANQL QNYRNYLLPA GYSLEEQRIL
DWQPRENPFQ NLKVLLVSDQ QQNFLELWSE ILMTGGAASV KQHHSSAHNK DIALGVFDVV
VTDPSCPASV LKCAEALQLP VVSQEWVIQC LIVGERIGFK QHPKYKHDYV SH*
speed 0.74 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: 0.999999831337697 (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 CM067476)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:43724646T>GN/A show variant in all transcripts   IGV
HGNC symbol TP53BP1
Ensembl transcript ID ENST00000382039
Genbank transcript ID N/A
UniProt peptide Q12888
alteration type single base exchange
alteration region CDS
DNA changes c.3421A>C
cDNA.3483A>C
g.78281A>C
AA changes K1141Q Score: 53 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1141
frameshift no
known variant Reference ID: rs2602141
databasehomozygous (G/G)heterozygousallele carriers
1000G8689001768
ExAC102441227922523

known disease mutation at this position, please check HGMD for details (HGMD ID CM067476)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.130.999
1.6050.995
(flanking)0.480.225
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 increased78282wt: 0.9979 / mu: 0.9981 (marginal change - not scored)wt: TAATAAGGAAAATCC
mu: TAATCAGGAAAATCC		 ATAA|ggaa
Donor marginally increased78283wt: 0.9927 / mu: 0.9945 (marginal change - not scored)wt: AATAAGGAAAATCCT
mu: AATCAGGAAAATCCT		 TAAG|gaaa
distance from splice site 230
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1141LEDQKEGRSTNKENPSKALIERPS
mutated  all conserved    1141QENPSKALIERP
Ptroglodytes  all conserved  ENSPTRG00000006994  1141QENPSKALIERP
Mmulatta  all conserved  ENSMMUG00000017078  1135LEDQKEGRNTNQENPS
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000043909  1137LE----GLAANQDRPSKMLMDRP
Ggallus  all conserved  ENSGALG00000008521  1145VTTQIEEGARMQQKPSEV
Trubripes  not conserved  ENSTRUG00000013399  1031NARQTFDQSNTSSPPIKV---SP
Drerio  not conserved  ENSDARG00000079000  1001VSLNPGALEADSEALVSGLLS-P
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5784 / 5784
position (AA) of stopcodon in wt / mu AA sequence 1928 / 1928
position of stopcodon in wt / mu cDNA 5846 / 5846
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 63 / 63
chromosome 15
strand -1
last intron/exon boundary 5659
theoretical NMD boundary in CDS 5546
length of CDS 5784
coding sequence (CDS) position 3421
cDNA position
(for ins/del: last normal base / first normal base)		 3483
gDNA position
(for ins/del: last normal base / first normal base)		 78281
chromosomal position
(for ins/del: last normal base / first normal base)		 43724646
original gDNA sequence snippet AAGAAGGACGGAGTACTAATAAGGAAAATCCTAGTAAGGCC
altered gDNA sequence snippet AAGAAGGACGGAGTACTAATCAGGAAAATCCTAGTAAGGCC
original cDNA sequence snippet AAGAAGGACGGAGTACTAATAAGGAAAATCCTAGTAAGGCC
altered cDNA sequence snippet AAGAAGGACGGAGTACTAATCAGGAAAATCCTAGTAAGGCC
wildtype AA sequence MPGEQMDPTG SQLDSDFSQQ DTPCLIIEDS QPESQVLEDD SGSHFSMLSR HLPNLQTHKE
NPVLDVVSNP EQTAGEERGD GNSGFNEHLK ENKVADPVDS SNLDTCGSIS QVIEQLPQPN
RTSSVLGMSV ESAPAVEEEK GEELEQKEKE KEEDTSGNTT HSLGAEDTAS SQLGFGVLEL
SQSQDVEENT VPYEVDKEQL QSVTTNSGYT RLSDVDANTA IKHEEQSNED IPIAEQSSKD
IPVTAQPSKD VHVVKEQNPP PARSEDMPFS PKASVAAMEA KEQLSAQELM ESGLQIQKSP
EPEVLSTQED LFDQSNKTVS SDGCSTPSRE EGGCSLASTP ATTLHLLQLS GQRSLVQDSL
STNSSDLVAP SPDAFRSTPF IVPSSPTEQE GRQDKPMDTS VLSEEGGEPF QKKLQSGEPV
ELENPPLLPE STVSPQASTP ISQSTPVFPP GSLPIPSQPQ FSHDIFIPSP SLEEQSNDGK
KDGDMHSSSL TVECSKTSEI EPKNSPEDLG LSLTGDSCKL MLSTSEYSQS PKMESLSSHR
IDEDGENTQI EDTEPMSPVL NSKFVPAEND SILMNPAQDG EVQLSQNDDK TKGDDTDTRD
DISILATGCK GREETVAEDV CIDLTCDSGS QAVPSPATRS EALSSVLDQE EAMEIKEHHP
EEGSSGSEVE EIPETPCESQ GEELKEENME SVPLHLSLTE TQSQGLCLQK EMPKKECSEA
MEVETSVISI DSPQKLAILD QELEHKEQEA WEEATSEDSS VVIVDVKEPS PRVDVSCEPL
EGVEKCSDSQ SWEDIAPEIE PCAENRLDTK EEKSVEYEGD LKSGTAETEP VEQDSSQPSL
PLVRADDPLR LDQELQQPQT QEKTSNSLTE DSKMANAKQL SSDAEAQKLG KPSAHASQSF
CESSSETPFH FTLPKEGDII PPLTGATPPL IGHLKLEPKR HSTPIGISNY PESTIATSDV
MSESMVETHD PILGSGKGDS GAAPDVDDKL CLRMKLVSPE TEASEESLQF NLEKPATGER
KNGSTAVAES VASPQKTMSV LSCICEARQE NEARSEDPPT TPIRGNLLHF PSSQGEEEKE
KLEGDHTIRQ SQQPMKPISP VKDPVSPASQ KMVIQGPSSP QGEAMVTDVL EDQKEGRSTN
KENPSKALIE RPSQNNIGIQ TMECSLRVPE TVSAATQTIK NVCEQGTSTV DQNFGKQDAT
VQTERGSGEK PVSAPGDDTE SLHSQGEEEF DMPQPPHGHV LHRHMRTIRE VRTLVTRVIT
DVYYVDGTEV ERKVTEETEE PIVECQECET EVSPSQTGGS SGDLGDISSF SSKASSLHRT
SSGTSLSAMH SSGSSGKGAG PLRGKTSGTE PADFALPSSR GGPGKLRETA VPGPLGIEDI
SPNLSPDDKS FSRVVPRVPD STRRTDVGAG ALRRSDSPEI PFQAAAGPSD GLDASSPGNS
FVGLRVVAKW SSNGYFYSGK ITRDVGAGKY KLLFDDGYEC DVLGKDILLC DPIPLDTEVT
ALSEDEYFSA GVVKGHRKES GELYYSIEKE GQRKWYKRMA VILSLEQGNR LREQYGLGPY
EAVTPLTKAA DISLDNLVEG KRKRRSNVSS PATPTASSSS STTPTRKITE SPRASMGVLS
GKRKLITSEE ERSPAKRGRK SATVKPGAVG AGEFVSPCES GDNTGEPSAL EEQRGPLPLN
KTLFLGYAFL LTMATTSDKL ASRSKLPDGP TGSSEEEEEF LEIPPFNKQY TESQLRAGAG
YILEDFNEAQ CNTAYQCLLI ADQHCRTRKY FLCLASGIPC VSHVWVHDSC HANQLQNYRN
YLLPAGYSLE EQRILDWQPR ENPFQNLKVL LVSDQQQNFL ELWSEILMTG GAASVKQHHS
SAHNKDIALG VFDVVVTDPS CPASVLKCAE ALQLPVVSQE WVIQCLIVGE RIGFKQHPKY
KHDYVSH*
mutated AA sequence MPGEQMDPTG SQLDSDFSQQ DTPCLIIEDS QPESQVLEDD SGSHFSMLSR HLPNLQTHKE
NPVLDVVSNP EQTAGEERGD GNSGFNEHLK ENKVADPVDS SNLDTCGSIS QVIEQLPQPN
RTSSVLGMSV ESAPAVEEEK GEELEQKEKE KEEDTSGNTT HSLGAEDTAS SQLGFGVLEL
SQSQDVEENT VPYEVDKEQL QSVTTNSGYT RLSDVDANTA IKHEEQSNED IPIAEQSSKD
IPVTAQPSKD VHVVKEQNPP PARSEDMPFS PKASVAAMEA KEQLSAQELM ESGLQIQKSP
EPEVLSTQED LFDQSNKTVS SDGCSTPSRE EGGCSLASTP ATTLHLLQLS GQRSLVQDSL
STNSSDLVAP SPDAFRSTPF IVPSSPTEQE GRQDKPMDTS VLSEEGGEPF QKKLQSGEPV
ELENPPLLPE STVSPQASTP ISQSTPVFPP GSLPIPSQPQ FSHDIFIPSP SLEEQSNDGK
KDGDMHSSSL TVECSKTSEI EPKNSPEDLG LSLTGDSCKL MLSTSEYSQS PKMESLSSHR
IDEDGENTQI EDTEPMSPVL NSKFVPAEND SILMNPAQDG EVQLSQNDDK TKGDDTDTRD
DISILATGCK GREETVAEDV CIDLTCDSGS QAVPSPATRS EALSSVLDQE EAMEIKEHHP
EEGSSGSEVE EIPETPCESQ GEELKEENME SVPLHLSLTE TQSQGLCLQK EMPKKECSEA
MEVETSVISI DSPQKLAILD QELEHKEQEA WEEATSEDSS VVIVDVKEPS PRVDVSCEPL
EGVEKCSDSQ SWEDIAPEIE PCAENRLDTK EEKSVEYEGD LKSGTAETEP VEQDSSQPSL
PLVRADDPLR LDQELQQPQT QEKTSNSLTE DSKMANAKQL SSDAEAQKLG KPSAHASQSF
CESSSETPFH FTLPKEGDII PPLTGATPPL IGHLKLEPKR HSTPIGISNY PESTIATSDV
MSESMVETHD PILGSGKGDS GAAPDVDDKL CLRMKLVSPE TEASEESLQF NLEKPATGER
KNGSTAVAES VASPQKTMSV LSCICEARQE NEARSEDPPT TPIRGNLLHF PSSQGEEEKE
KLEGDHTIRQ SQQPMKPISP VKDPVSPASQ KMVIQGPSSP QGEAMVTDVL EDQKEGRSTN
QENPSKALIE RPSQNNIGIQ TMECSLRVPE TVSAATQTIK NVCEQGTSTV DQNFGKQDAT
VQTERGSGEK PVSAPGDDTE SLHSQGEEEF DMPQPPHGHV LHRHMRTIRE VRTLVTRVIT
DVYYVDGTEV ERKVTEETEE PIVECQECET EVSPSQTGGS SGDLGDISSF SSKASSLHRT
SSGTSLSAMH SSGSSGKGAG PLRGKTSGTE PADFALPSSR GGPGKLRETA VPGPLGIEDI
SPNLSPDDKS FSRVVPRVPD STRRTDVGAG ALRRSDSPEI PFQAAAGPSD GLDASSPGNS
FVGLRVVAKW SSNGYFYSGK ITRDVGAGKY KLLFDDGYEC DVLGKDILLC DPIPLDTEVT
ALSEDEYFSA GVVKGHRKES GELYYSIEKE GQRKWYKRMA VILSLEQGNR LREQYGLGPY
EAVTPLTKAA DISLDNLVEG KRKRRSNVSS PATPTASSSS STTPTRKITE SPRASMGVLS
GKRKLITSEE ERSPAKRGRK SATVKPGAVG AGEFVSPCES GDNTGEPSAL EEQRGPLPLN
KTLFLGYAFL LTMATTSDKL ASRSKLPDGP TGSSEEEEEF LEIPPFNKQY TESQLRAGAG
YILEDFNEAQ CNTAYQCLLI ADQHCRTRKY FLCLASGIPC VSHVWVHDSC HANQLQNYRN
YLLPAGYSLE EQRILDWQPR ENPFQNLKVL LVSDQQQNFL ELWSEILMTG GAASVKQHHS
SAHNKDIALG VFDVVVTDPS CPASVLKCAE ALQLPVVSQE WVIQCLIVGE RIGFKQHPKY
KHDYVSH*
speed 0.74 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: 0.999999831337697 (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 CM067476)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:43724646T>GN/A show variant in all transcripts   IGV
HGNC symbol TP53BP1
Ensembl transcript ID ENST00000382044
Genbank transcript ID NM_001141980
UniProt peptide Q12888
alteration type single base exchange
alteration region CDS
DNA changes c.3421A>C
cDNA.3549A>C
g.78281A>C
AA changes K1141Q Score: 53 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1141
frameshift no
known variant Reference ID: rs2602141
databasehomozygous (G/G)heterozygousallele carriers
1000G8689001768
ExAC102441227922523

known disease mutation at this position, please check HGMD for details (HGMD ID CM067476)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.130.999
1.6050.995
(flanking)0.480.225
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 increased78282wt: 0.9979 / mu: 0.9981 (marginal change - not scored)wt: TAATAAGGAAAATCC
mu: TAATCAGGAAAATCC		 ATAA|ggaa
Donor marginally increased78283wt: 0.9927 / mu: 0.9945 (marginal change - not scored)wt: AATAAGGAAAATCCT
mu: AATCAGGAAAATCCT		 TAAG|gaaa
distance from splice site 230
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1141LEDQKEGRSTNKENPSKALIERPS
mutated  all conserved    1141QENPSKALIERP
Ptroglodytes  all conserved  ENSPTRG00000006994  1141QENPSKALIERP
Mmulatta  all conserved  ENSMMUG00000017078  1135LEDQKEGRNTNQENPS
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000043909  1137LE----GLAANQDRPSKMLMDRP
Ggallus  all conserved  ENSGALG00000008521  1145VTTQIEEGARMQQKPSEV
Trubripes  not conserved  ENSTRUG00000013399  1031NARQTFDQSNTSSPPIKV---SP
Drerio  not conserved  ENSDARG00000079000  1001VSLNPGALEADSEALVSGLLS-P
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5934 / 5934
position (AA) of stopcodon in wt / mu AA sequence 1978 / 1978
position of stopcodon in wt / mu cDNA 6062 / 6062
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 129 / 129
chromosome 15
strand -1
last intron/exon boundary 5875
theoretical NMD boundary in CDS 5696
length of CDS 5934
coding sequence (CDS) position 3421
cDNA position
(for ins/del: last normal base / first normal base)		 3549
gDNA position
(for ins/del: last normal base / first normal base)		 78281
chromosomal position
(for ins/del: last normal base / first normal base)		 43724646
original gDNA sequence snippet AAGAAGGACGGAGTACTAATAAGGAAAATCCTAGTAAGGCC
altered gDNA sequence snippet AAGAAGGACGGAGTACTAATCAGGAAAATCCTAGTAAGGCC
original cDNA sequence snippet AAGAAGGACGGAGTACTAATAAGGAAAATCCTAGTAAGGCC
altered cDNA sequence snippet AAGAAGGACGGAGTACTAATCAGGAAAATCCTAGTAAGGCC
wildtype AA sequence MPGEQMDPTG SQLDSDFSQQ DTPCLIIEDS QPESQVLEDD SGSHFSMLSR HLPNLQTHKE
NPVLDVVSNP EQTAGEERGD GNSGFNEHLK ENKVADPVDS SNLDTCGSIS QVIEQLPQPN
RTSSVLGMSV ESAPAVEEEK GEELEQKEKE KEEDTSGNTT HSLGAEDTAS SQLGFGVLEL
SQSQDVEENT VPYEVDKEQL QSVTTNSGYT RLSDVDANTA IKHEEQSNED IPIAEQSSKD
IPVTAQPSKD VHVVKEQNPP PARSEDMPFS PKASVAAMEA KEQLSAQELM ESGLQIQKSP
EPEVLSTQED LFDQSNKTVS SDGCSTPSRE EGGCSLASTP ATTLHLLQLS GQRSLVQDSL
STNSSDLVAP SPDAFRSTPF IVPSSPTEQE GRQDKPMDTS VLSEEGGEPF QKKLQSGEPV
ELENPPLLPE STVSPQASTP ISQSTPVFPP GSLPIPSQPQ FSHDIFIPSP SLEEQSNDGK
KDGDMHSSSL TVECSKTSEI EPKNSPEDLG LSLTGDSCKL MLSTSEYSQS PKMESLSSHR
IDEDGENTQI EDTEPMSPVL NSKFVPAEND SILMNPAQDG EVQLSQNDDK TKGDDTDTRD
DISILATGCK GREETVAEDV CIDLTCDSGS QAVPSPATRS EALSSVLDQE EAMEIKEHHP
EEGSSGSEVE EIPETPCESQ GEELKEENME SVPLHLSLTE TQSQGLCLQK EMPKKECSEA
MEVETSVISI DSPQKLAILD QELEHKEQEA WEEATSEDSS VVIVDVKEPS PRVDVSCEPL
EGVEKCSDSQ SWEDIAPEIE PCAENRLDTK EEKSVEYEGD LKSGTAETEP VEQDSSQPSL
PLVRADDPLR LDQELQQPQT QEKTSNSLTE DSKMANAKQL SSDAEAQKLG KPSAHASQSF
CESSSETPFH FTLPKEGDII PPLTGATPPL IGHLKLEPKR HSTPIGISNY PESTIATSDV
MSESMVETHD PILGSGKGDS GAAPDVDDKL CLRMKLVSPE TEASEESLQF NLEKPATGER
KNGSTAVAES VASPQKTMSV LSCICEARQE NEARSEDPPT TPIRGNLLHF PSSQGEEEKE
KLEGDHTIRQ SQQPMKPISP VKDPVSPASQ KMVIQGPSSP QGEAMVTDVL EDQKEGRSTN
KENPSKALIE RPSQNNIGIQ TMECSLRVPE TVSAATQTIK NVCEQGTSTV DQNFGKQDAT
VQTERGSGEK PVSAPGDDTE SLHSQGEEEF DMPQPPHGHV LHRHMRTIRE VRTLVTRVIT
DVYYVDGTEV ERKVTEETEE PIVECQECET EVSPSQTGGS SGDLGDISSF SSKASSLHRT
SSGTSLSAMH SSGSSGKGAG PLRGKTSGTE PADFALPSSR GGPGKLSPRK GVSQTGTPVC
EEDGDAGLGI RQGGKAPVTP RGRGRRGRPP SRTTGTRETA VPGPLGIEDI SPNLSPDDKS
FSRVVPRVPD STRRTDVGAG ALRRSDSPEI PFQAAAGPSD GLDASSPGNS FVGLRVVAKW
SSNGYFYSGK ITRDVGAGKY KLLFDDGYEC DVLGKDILLC DPIPLDTEVT ALSEDEYFSA
GVVKGHRKES GELYYSIEKE GQRKWYKRMA VILSLEQGNR LREQYGLGPY EAVTPLTKAA
DISLDNLVEG KRKRRSNVSS PATPTASSSS STTPTRKITE SPRASMGVLS GKRKLITSEE
ERSPAKRGRK SATVKPGAVG AGEFVSPCES GDNTGEPSAL EEQRGPLPLN KTLFLGYAFL
LTMATTSDKL ASRSKLPDGP TGSSEEEEEF LEIPPFNKQY TESQLRAGAG YILEDFNEAQ
CNTAYQCLLI ADQHCRTRKY FLCLASGIPC VSHVWVHDSC HANQLQNYRN YLLPAGYSLE
EQRILDWQPR ENPFQNLKVL LVSDQQQNFL ELWSEILMTG GAASVKQHHS SAHNKDIALG
VFDVVVTDPS CPASVLKCAE ALQLPVVSQE WVIQCLIVGE RIGFKQHPKY KHDYVSH*
mutated AA sequence MPGEQMDPTG SQLDSDFSQQ DTPCLIIEDS QPESQVLEDD SGSHFSMLSR HLPNLQTHKE
NPVLDVVSNP EQTAGEERGD GNSGFNEHLK ENKVADPVDS SNLDTCGSIS QVIEQLPQPN
RTSSVLGMSV ESAPAVEEEK GEELEQKEKE KEEDTSGNTT HSLGAEDTAS SQLGFGVLEL
SQSQDVEENT VPYEVDKEQL QSVTTNSGYT RLSDVDANTA IKHEEQSNED IPIAEQSSKD
IPVTAQPSKD VHVVKEQNPP PARSEDMPFS PKASVAAMEA KEQLSAQELM ESGLQIQKSP
EPEVLSTQED LFDQSNKTVS SDGCSTPSRE EGGCSLASTP ATTLHLLQLS GQRSLVQDSL
STNSSDLVAP SPDAFRSTPF IVPSSPTEQE GRQDKPMDTS VLSEEGGEPF QKKLQSGEPV
ELENPPLLPE STVSPQASTP ISQSTPVFPP GSLPIPSQPQ FSHDIFIPSP SLEEQSNDGK
KDGDMHSSSL TVECSKTSEI EPKNSPEDLG LSLTGDSCKL MLSTSEYSQS PKMESLSSHR
IDEDGENTQI EDTEPMSPVL NSKFVPAEND SILMNPAQDG EVQLSQNDDK TKGDDTDTRD
DISILATGCK GREETVAEDV CIDLTCDSGS QAVPSPATRS EALSSVLDQE EAMEIKEHHP
EEGSSGSEVE EIPETPCESQ GEELKEENME SVPLHLSLTE TQSQGLCLQK EMPKKECSEA
MEVETSVISI DSPQKLAILD QELEHKEQEA WEEATSEDSS VVIVDVKEPS PRVDVSCEPL
EGVEKCSDSQ SWEDIAPEIE PCAENRLDTK EEKSVEYEGD LKSGTAETEP VEQDSSQPSL
PLVRADDPLR LDQELQQPQT QEKTSNSLTE DSKMANAKQL SSDAEAQKLG KPSAHASQSF
CESSSETPFH FTLPKEGDII PPLTGATPPL IGHLKLEPKR HSTPIGISNY PESTIATSDV
MSESMVETHD PILGSGKGDS GAAPDVDDKL CLRMKLVSPE TEASEESLQF NLEKPATGER
KNGSTAVAES VASPQKTMSV LSCICEARQE NEARSEDPPT TPIRGNLLHF PSSQGEEEKE
KLEGDHTIRQ SQQPMKPISP VKDPVSPASQ KMVIQGPSSP QGEAMVTDVL EDQKEGRSTN
QENPSKALIE RPSQNNIGIQ TMECSLRVPE TVSAATQTIK NVCEQGTSTV DQNFGKQDAT
VQTERGSGEK PVSAPGDDTE SLHSQGEEEF DMPQPPHGHV LHRHMRTIRE VRTLVTRVIT
DVYYVDGTEV ERKVTEETEE PIVECQECET EVSPSQTGGS SGDLGDISSF SSKASSLHRT
SSGTSLSAMH SSGSSGKGAG PLRGKTSGTE PADFALPSSR GGPGKLSPRK GVSQTGTPVC
EEDGDAGLGI RQGGKAPVTP RGRGRRGRPP SRTTGTRETA VPGPLGIEDI SPNLSPDDKS
FSRVVPRVPD STRRTDVGAG ALRRSDSPEI PFQAAAGPSD GLDASSPGNS FVGLRVVAKW
SSNGYFYSGK ITRDVGAGKY KLLFDDGYEC DVLGKDILLC DPIPLDTEVT ALSEDEYFSA
GVVKGHRKES GELYYSIEKE GQRKWYKRMA VILSLEQGNR LREQYGLGPY EAVTPLTKAA
DISLDNLVEG KRKRRSNVSS PATPTASSSS STTPTRKITE SPRASMGVLS GKRKLITSEE
ERSPAKRGRK SATVKPGAVG AGEFVSPCES GDNTGEPSAL EEQRGPLPLN KTLFLGYAFL
LTMATTSDKL ASRSKLPDGP TGSSEEEEEF LEIPPFNKQY TESQLRAGAG YILEDFNEAQ
CNTAYQCLLI ADQHCRTRKY FLCLASGIPC VSHVWVHDSC HANQLQNYRN YLLPAGYSLE
EQRILDWQPR ENPFQNLKVL LVSDQQQNFL ELWSEILMTG GAASVKQHHS SAHNKDIALG
VFDVVVTDPS CPASVLKCAE ALQLPVVSQE WVIQCLIVGE RIGFKQHPKY KHDYVSH*
speed 1.19 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999831337697 (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 CM067476)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:43724646T>GN/A show variant in all transcripts   IGV
HGNC symbol TP53BP1
Ensembl transcript ID ENST00000450115
Genbank transcript ID NM_001141979
UniProt peptide Q12888
alteration type single base exchange
alteration region CDS
DNA changes c.3421A>C
cDNA.3505A>C
g.78281A>C
AA changes K1141Q Score: 53 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1141
frameshift no
known variant Reference ID: rs2602141
databasehomozygous (G/G)heterozygousallele carriers
1000G8689001768
ExAC102441227922523

known disease mutation at this position, please check HGMD for details (HGMD ID CM067476)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.130.999
1.6050.995
(flanking)0.480.225
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 increased78282wt: 0.9979 / mu: 0.9981 (marginal change - not scored)wt: TAATAAGGAAAATCC
mu: TAATCAGGAAAATCC		 ATAA|ggaa
Donor marginally increased78283wt: 0.9927 / mu: 0.9945 (marginal change - not scored)wt: AATAAGGAAAATCCT
mu: AATCAGGAAAATCCT		 TAAG|gaaa
distance from splice site 230
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1141LEDQKEGRSTNKENPSKALIERPS
mutated  all conserved    1141QENPSKALIERP
Ptroglodytes  all conserved  ENSPTRG00000006994  1141QENPSKALIERP
Mmulatta  all conserved  ENSMMUG00000017078  1135LEDQKEGRNTNQENPS
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000043909  1137LE----GLAANQDRPSKMLMDRP
Ggallus  all conserved  ENSGALG00000008521  1145VTTQIEEGARMQQKPSEV
Trubripes  not conserved  ENSTRUG00000013399  1031NARQTFDQSNTSSPPIKV---SP
Drerio  not conserved  ENSDARG00000079000  1001VSLNPGALEADSEALVSGLLS-P
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5928 / 5928
position (AA) of stopcodon in wt / mu AA sequence 1976 / 1976
position of stopcodon in wt / mu cDNA 6012 / 6012
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 85 / 85
chromosome 15
strand -1
last intron/exon boundary 5825
theoretical NMD boundary in CDS 5690
length of CDS 5928
coding sequence (CDS) position 3421
cDNA position
(for ins/del: last normal base / first normal base)		 3505
gDNA position
(for ins/del: last normal base / first normal base)		 78281
chromosomal position
(for ins/del: last normal base / first normal base)		 43724646
original gDNA sequence snippet AAGAAGGACGGAGTACTAATAAGGAAAATCCTAGTAAGGCC
altered gDNA sequence snippet AAGAAGGACGGAGTACTAATCAGGAAAATCCTAGTAAGGCC
original cDNA sequence snippet AAGAAGGACGGAGTACTAATAAGGAAAATCCTAGTAAGGCC
altered cDNA sequence snippet AAGAAGGACGGAGTACTAATCAGGAAAATCCTAGTAAGGCC
wildtype AA sequence MPGEQMDPTG SQLDSDFSQQ DTPCLIIEDS QPESQVLEDD SGSHFSMLSR HLPNLQTHKE
NPVLDVVSNP EQTAGEERGD GNSGFNEHLK ENKVADPVDS SNLDTCGSIS QVIEQLPQPN
RTSSVLGMSV ESAPAVEEEK GEELEQKEKE KEEDTSGNTT HSLGAEDTAS SQLGFGVLEL
SQSQDVEENT VPYEVDKEQL QSVTTNSGYT RLSDVDANTA IKHEEQSNED IPIAEQSSKD
IPVTAQPSKD VHVVKEQNPP PARSEDMPFS PKASVAAMEA KEQLSAQELM ESGLQIQKSP
EPEVLSTQED LFDQSNKTVS SDGCSTPSRE EGGCSLASTP ATTLHLLQLS GQRSLVQDSL
STNSSDLVAP SPDAFRSTPF IVPSSPTEQE GRQDKPMDTS VLSEEGGEPF QKKLQSGEPV
ELENPPLLPE STVSPQASTP ISQSTPVFPP GSLPIPSQPQ FSHDIFIPSP SLEEQSNDGK
KDGDMHSSSL TVECSKTSEI EPKNSPEDLG LSLTGDSCKL MLSTSEYSQS PKMESLSSHR
IDEDGENTQI EDTEPMSPVL NSKFVPAEND SILMNPAQDG EVQLSQNDDK TKGDDTDTRD
DISILATGCK GREETVAEDV CIDLTCDSGS QAVPSPATRS EALSSVLDQE EAMEIKEHHP
EEGSSGSEVE EIPETPCESQ GEELKEENME SVPLHLSLTE TQSQGLCLQK EMPKKECSEA
MEVETSVISI DSPQKLAILD QELEHKEQEA WEEATSEDSS VVIVDVKEPS PRVDVSCEPL
EGVEKCSDSQ SWEDIAPEIE PCAENRLDTK EEKSVEYEGD LKSGTAETEP VEQDSSQPSL
PLVRADDPLR LDQELQQPQT QEKTSNSLTE DSKMANAKQL SSDAEAQKLG KPSAHASQSF
CESSSETPFH FTLPKEGDII PPLTGATPPL IGHLKLEPKR HSTPIGISNY PESTIATSDV
MSESMVETHD PILGSGKGDS GAAPDVDDKL CLRMKLVSPE TEASEESLQF NLEKPATGER
KNGSTAVAES VASPQKTMSV LSCICEARQE NEARSEDPPT TPIRGNLLHF PSSQGEEEKE
KLEGDHTIRQ SQQPMKPISP VKDPVSPASQ KMVIQGPSSP QGEAMVTDVL EDQKEGRSTN
KENPSKALIE RPSQNNIGIQ TMECSLRVPE TVSAATQTIK NVCEQGTSTV DQNFGKQDAT
VQTERGSGEK PVSAPGDDTE SLHSQGEEEF DMPQPPHGHV LHRHMRTIRE VRTLVTRVIT
DVYYVDGTEV ERKVTEETEE PIVECQECET EVSPSQTGGS SGDLGDISSF SSKASSLHRT
SSGTSLSAMH SSGSSGKGAG PLRGKTSGTE PADFALPSSR GGPGKLSPRK GVSQTGTPVC
EEDGDAGLGI RQGGKAPVTP RGRGRRGRPP SRTTGTRETA VPGPLGIEDI SPNLSPDDKS
FSRVVPRVPD STRRTDVGAG ALRRSDSPEI PFQAAAGPSD GLDASSPGNS FVGLRVVAKW
SSNGYFYSGK ITRDVGAGKY KLLFDDGYEC DVLGKDILLC DPIPLDTEVT ALSEDEYFSA
GVVKGHRKES GELYYSIEKE GQRKWYKRMA VILSLEQGNR LREQYGLGPY EAVTPLTKAA
DISLDNLVEG KRKRRSNVSS PATPTASSSS STTPTRKITE SPRASMGVLS GKRKLITSEE
ERSPAKRGRK SATVKPVGAG EFVSPCESGD NTGEPSALEE QRGPLPLNKT LFLGYAFLLT
MATTSDKLAS RSKLPDGPTG SSEEEEEFLE IPPFNKQYTE SQLRAGAGYI LEDFNEAQCN
TAYQCLLIAD QHCRTRKYFL CLASGIPCVS HVWVHDSCHA NQLQNYRNYL LPAGYSLEEQ
RILDWQPREN PFQNLKVLLV SDQQQNFLEL WSEILMTGGA ASVKQHHSSA HNKDIALGVF
DVVVTDPSCP ASVLKCAEAL QLPVVSQEWV IQCLIVGERI GFKQHPKYKH DYVSH*
mutated AA sequence MPGEQMDPTG SQLDSDFSQQ DTPCLIIEDS QPESQVLEDD SGSHFSMLSR HLPNLQTHKE
NPVLDVVSNP EQTAGEERGD GNSGFNEHLK ENKVADPVDS SNLDTCGSIS QVIEQLPQPN
RTSSVLGMSV ESAPAVEEEK GEELEQKEKE KEEDTSGNTT HSLGAEDTAS SQLGFGVLEL
SQSQDVEENT VPYEVDKEQL QSVTTNSGYT RLSDVDANTA IKHEEQSNED IPIAEQSSKD
IPVTAQPSKD VHVVKEQNPP PARSEDMPFS PKASVAAMEA KEQLSAQELM ESGLQIQKSP
EPEVLSTQED LFDQSNKTVS SDGCSTPSRE EGGCSLASTP ATTLHLLQLS GQRSLVQDSL
STNSSDLVAP SPDAFRSTPF IVPSSPTEQE GRQDKPMDTS VLSEEGGEPF QKKLQSGEPV
ELENPPLLPE STVSPQASTP ISQSTPVFPP GSLPIPSQPQ FSHDIFIPSP SLEEQSNDGK
KDGDMHSSSL TVECSKTSEI EPKNSPEDLG LSLTGDSCKL MLSTSEYSQS PKMESLSSHR
IDEDGENTQI EDTEPMSPVL NSKFVPAEND SILMNPAQDG EVQLSQNDDK TKGDDTDTRD
DISILATGCK GREETVAEDV CIDLTCDSGS QAVPSPATRS EALSSVLDQE EAMEIKEHHP
EEGSSGSEVE EIPETPCESQ GEELKEENME SVPLHLSLTE TQSQGLCLQK EMPKKECSEA
MEVETSVISI DSPQKLAILD QELEHKEQEA WEEATSEDSS VVIVDVKEPS PRVDVSCEPL
EGVEKCSDSQ SWEDIAPEIE PCAENRLDTK EEKSVEYEGD LKSGTAETEP VEQDSSQPSL
PLVRADDPLR LDQELQQPQT QEKTSNSLTE DSKMANAKQL SSDAEAQKLG KPSAHASQSF
CESSSETPFH FTLPKEGDII PPLTGATPPL IGHLKLEPKR HSTPIGISNY PESTIATSDV
MSESMVETHD PILGSGKGDS GAAPDVDDKL CLRMKLVSPE TEASEESLQF NLEKPATGER
KNGSTAVAES VASPQKTMSV LSCICEARQE NEARSEDPPT TPIRGNLLHF PSSQGEEEKE
KLEGDHTIRQ SQQPMKPISP VKDPVSPASQ KMVIQGPSSP QGEAMVTDVL EDQKEGRSTN
QENPSKALIE RPSQNNIGIQ TMECSLRVPE TVSAATQTIK NVCEQGTSTV DQNFGKQDAT
VQTERGSGEK PVSAPGDDTE SLHSQGEEEF DMPQPPHGHV LHRHMRTIRE VRTLVTRVIT
DVYYVDGTEV ERKVTEETEE PIVECQECET EVSPSQTGGS SGDLGDISSF SSKASSLHRT
SSGTSLSAMH SSGSSGKGAG PLRGKTSGTE PADFALPSSR GGPGKLSPRK GVSQTGTPVC
EEDGDAGLGI RQGGKAPVTP RGRGRRGRPP SRTTGTRETA VPGPLGIEDI SPNLSPDDKS
FSRVVPRVPD STRRTDVGAG ALRRSDSPEI PFQAAAGPSD GLDASSPGNS FVGLRVVAKW
SSNGYFYSGK ITRDVGAGKY KLLFDDGYEC DVLGKDILLC DPIPLDTEVT ALSEDEYFSA
GVVKGHRKES GELYYSIEKE GQRKWYKRMA VILSLEQGNR LREQYGLGPY EAVTPLTKAA
DISLDNLVEG KRKRRSNVSS PATPTASSSS STTPTRKITE SPRASMGVLS GKRKLITSEE
ERSPAKRGRK SATVKPVGAG EFVSPCESGD NTGEPSALEE QRGPLPLNKT LFLGYAFLLT
MATTSDKLAS RSKLPDGPTG SSEEEEEFLE IPPFNKQYTE SQLRAGAGYI LEDFNEAQCN
TAYQCLLIAD QHCRTRKYFL CLASGIPCVS HVWVHDSCHA NQLQNYRNYL LPAGYSLEEQ
RILDWQPREN PFQNLKVLLV SDQQQNFLEL WSEILMTGGA ASVKQHHSSA HNKDIALGVF
DVVVTDPSCP ASVLKCAEAL QLPVVSQEWV IQCLIVGERI GFKQHPKYKH DYVSH*
speed 0.91 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

Problems