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 increased78283wt: 0.9927 / mu: 0.9945 (marginal change - not scored)wt: AATAAGGAAAATCCT
mu: AATCAGGAAAATCCT		 TAAG|gaaa
Donor marginally increased78282wt: 0.9979 / mu: 0.9981 (marginal change - not scored)wt: TAATAAGGAAAATCC
mu: TAATCAGGAAAATCC		 ATAA|ggaa
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 0.99 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