Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999643133692 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM090157)
  • known disease mutation: rs14305 (pathogenic)
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:89415269G>AN/A show variant in all transcripts   IGV
HGNC symbol ACAN
Ensembl transcript ID ENST00000439576
Genbank transcript ID NM_013227
UniProt peptide N/A
alteration type single base exchange
alteration region CDS
DNA changes c.7141G>A
cDNA.7515G>A
g.68596G>A
AA changes D2381N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2381
frameshift no
known variant Reference ID: rs121913568
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs14305 (pathogenic for Spondyloepimetaphyseal dysplasia, aggrecan type) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM090157)

known disease mutation at this position, please check HGMD for details (HGMD ID CM090157)
known disease mutation at this position, please check HGMD for details (HGMD ID CM090157)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.030.992
5.9411
(flanking)4.9081
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained685940.36mu: CCTGAACAACAGGAC TGAA|caac
distance from splice site 36
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2381NAQDYQWIGLNDRTIEGDFRWSDG
mutated  all conserved    2381NAQDYQWIGLNNRTIEGDFRWSD
Ptroglodytes  all identical  ENSPTRG00000007424  2096NAQDYQWIGLNDRTIEGDFRWSD
Mmulatta  all identical  ENSMMUG00000000554  2086NAQDYQWIGLNDRTIEGDFRWSD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000030607  1983NAQDYQWIGLNDRTIEGDFRWSD
Ggallus  all identical  ENSGALG00000006725  1938HAQDYQWIGLSDRAVENDFRWSD
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000035891  139NAQDYQWIGLNDKTVENDFRWSD
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features N/A
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 7593 / 7593
position (AA) of stopcodon in wt / mu AA sequence 2531 / 2531
position of stopcodon in wt / mu cDNA 7967 / 7967
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 375 / 375
chromosome 15
strand 1
last intron/exon boundary 7891
theoretical NMD boundary in CDS 7466
length of CDS 7593
coding sequence (CDS) position 7141
cDNA position
(for ins/del: last normal base / first normal base)		 7515
gDNA position
(for ins/del: last normal base / first normal base)		 68596
chromosomal position
(for ins/del: last normal base / first normal base)		 89415269
original gDNA sequence snippet ACCAGTGGATCGGCCTGAACGACAGGACCATCGAAGGGGAC
altered gDNA sequence snippet ACCAGTGGATCGGCCTGAACAACAGGACCATCGAAGGGGAC
original cDNA sequence snippet ACCAGTGGATCGGCCTGAACGACAGGACCATCGAAGGGGAC
altered cDNA sequence snippet ACCAGTGGATCGGCCTGAACAACAGGACCATCGAAGGGGAC
wildtype AA sequence MTTLLWVFVT LRVITAAVTV ETSDHDNSLS VSIPQPSPLR VLLGTSLTIP CYFIDPMHPV
TTAPSTAPLA PRIKWSRVSK EKEVVLLVAT EGRVRVNSAY QDKVSLPNYP AIPSDATLEV
QSLRSNDSGV YRCEVMHGIE DSEATLEVVV KGIVFHYRAI STRYTLDFDR AQRACLQNSA
IIATPEQLQA AYEDGFHQCD AGWLADQTVR YPIHTPREGC YGDKDEFPGV RTYGIRDTNE
TYDVYCFAEE MEGEVFYATS PEKFTFQEAA NECRRLGARL ATTGQLYLAW QAGMDMCSAG
WLADRSVRYP ISKARPNCGG NLLGVRTVYV HANQTGYPDP SSRYDAICYT GEDFVDIPEN
FFGVGGEEDI TVQTVTWPDM ELPLPRNITE GEARGSVILT VKPIFEVSPS PLEPEEPFTF
APEIGATAFA EVENETGEAT RPWGFPTPGL GPATAFTSED LVVQVTAVPG QPHLPGGVVF
HYRPGPTRYS LTFEEAQQAC LRTGAVIASP EQLQAAYEAG YEQCDAGWLR DQTVRYPIVS
PRTPCVGDKD SSPGVRTYGV RPSTETYDVY CFVDRLEGEV FFATRLEQFT FQEALEFCES
HNATLATTGQ LYAAWSRGLD KCYAGWLADG SLRYPIVTPR PACGGDKPGV RTVYLYPNQT
GLPDPLSRHH AFCFRGISAV PSPGEEEGGT PTSPSGVEEW IVTQVVPGVA AVPVEEETTA
VPSGETTAIL EFTTEPENQT EWEPAYTPVG TSPLPGILPT WPPTGAATEE STEGPSATEV
PSASEEPSPS EVPFPSEEPS PSEEPFPSVR PFPSVELFPS EEPFPSKEPS PSEEPSASEE
PYTPSPPVPS WTELPSSGEE SGAPDVSGDF TGSGDVSGHL DFSGQLSGDR ASGLPSGDLD
SSGLTSTVGS GLPVESGLPS GDEERIEWPS TPTVGELPSG AEILEGSASG VGDLSGLPSG
EVLETSASGV GDLSGLPSGE VLETTAPGVE DISGLPSGEV LETTAPGVED ISGLPSGEVL
ETTAPGVEDI SGLPSGEVLE TTAPGVEDIS GLPSGEVLET TAPGVEDISG LPSGEVLETT
APGVEDISGL PSGEVLETAA PGVEDISGLP SGEVLETAAP GVEDISGLPS GEVLETAAPG
VEDISGLPSG EVLETAAPGV EDISGLPSGE VLETAAPGVE DISGLPSGEV LETAAPGVED
ISGLPSGEVL ETAAPGVEDI SGLPSGEVLE TAAPGVEDIS GLPSGEVLET AAPGVEDISG
LPSGEVLETA APGVEDISGL PSGEVLETAA PGVEDISGLP SGEVLETAAP GVEDISGLPS
GEVLETAAPG VEDISGLPSG EVLETAAPGV EDISGLPSGE VLETAAPGVE DISGLPSGEV
LETAAPGVED ISGLPSGEVL ETTAPGVEEI SGLPSGEVLE TTAPGVDEIS GLPSGEVLET
TAPGVEEISG LPSGEVLETS TSAVGDLSGL PSGGEVLEIS VSGVEDISGL PSGEVVETSA
SGIEDVSELP SGEGLETSAS GVEDLSRLPS GEEVLEISAS GFGDLSGLPS GGEGLETSAS
EVGTDLSGLP SGREGLETSA SGAEDLSGLP SGKEDLVGSA SGDLDLGKLP SGTLGSGQAP
ETSGLPSGFS GEYSGVDLGS GPPSGLPDFS GLPSGFPTVS LVDSTLVEVV TASTASELEG
RGTIGISGAG EISGLPSSEL DISGRASGLP SGTELSGQAS GSPDVSGEIP GLFGVSGQPS
GFPDTSGETS GVTELSGLSS GQPGISGEAS GVLYGTSQPF GITDLSGETS GVPDLSGQPS
GLPGFSGATS GVPDLVSGTT SGSGESSGIT FVDTSLVEVA PTTFKEEEGL GSVELSGLPS
GEADLSGKSG MVDVSGQFSG TVDSSGFTSQ TPEFSGLPSG IAEVSGESSR AEIGSSLPSG
AYYGSGTPSS FPTVSLVDRT LVESVTQAPT AQEAGEGPSG ILELSGAHSG APDMSGEHSG
FLDLSGLQSG LIEPSGEPPG TPYFSGDFAS TTNVSGESSV AMGTSGEASG LPEVTLITSE
FVEGVTEPTI SQELGQRPPV THTPQLFESS GKVSTAGDIS GATPVLPGSG VEVSSVPESS
SETSAYPEAG FGASAAPEAS REDSGSPDLS ETTSAFHEAN LERSSGLGVS GSTLTFQEGE
ASAAPEVSGE STTTSDVGTE APGLPSATPT ASGDRTEISG DLSGHTSQLG VVISTSIPES
EWTQQTQRPA ETHLEIESSS LLYSGEETHT VETATSPTDA SIPASPEWKR ESESTAAAPA
RSCAEEPCGA GTCKETEGHV ICLCPPGYTG EHCNIDQEVC EEGWNKYQGH CYRHFPDRET
WVDAERRCRE QQSHLSSIVT PEEQEFVNNN AQDYQWIGLN DRTIEGDFRW SDGHPMQFEN
WRPNQPDNFF AAGEDCVVMI WHEKGEWNDV PCNYHLPFTC KKGTVACGEP PVVEHARTFG
QKKDRYEINS LVRYQCTEGF VQRHMPTIRC QPSGHWEEPQ ITCTDPTTYK RRLQKRSSRH
PRRSRPSTAH *
mutated AA sequence MTTLLWVFVT LRVITAAVTV ETSDHDNSLS VSIPQPSPLR VLLGTSLTIP CYFIDPMHPV
TTAPSTAPLA PRIKWSRVSK EKEVVLLVAT EGRVRVNSAY QDKVSLPNYP AIPSDATLEV
QSLRSNDSGV YRCEVMHGIE DSEATLEVVV KGIVFHYRAI STRYTLDFDR AQRACLQNSA
IIATPEQLQA AYEDGFHQCD AGWLADQTVR YPIHTPREGC YGDKDEFPGV RTYGIRDTNE
TYDVYCFAEE MEGEVFYATS PEKFTFQEAA NECRRLGARL ATTGQLYLAW QAGMDMCSAG
WLADRSVRYP ISKARPNCGG NLLGVRTVYV HANQTGYPDP SSRYDAICYT GEDFVDIPEN
FFGVGGEEDI TVQTVTWPDM ELPLPRNITE GEARGSVILT VKPIFEVSPS PLEPEEPFTF
APEIGATAFA EVENETGEAT RPWGFPTPGL GPATAFTSED LVVQVTAVPG QPHLPGGVVF
HYRPGPTRYS LTFEEAQQAC LRTGAVIASP EQLQAAYEAG YEQCDAGWLR DQTVRYPIVS
PRTPCVGDKD SSPGVRTYGV RPSTETYDVY CFVDRLEGEV FFATRLEQFT FQEALEFCES
HNATLATTGQ LYAAWSRGLD KCYAGWLADG SLRYPIVTPR PACGGDKPGV RTVYLYPNQT
GLPDPLSRHH AFCFRGISAV PSPGEEEGGT PTSPSGVEEW IVTQVVPGVA AVPVEEETTA
VPSGETTAIL EFTTEPENQT EWEPAYTPVG TSPLPGILPT WPPTGAATEE STEGPSATEV
PSASEEPSPS EVPFPSEEPS PSEEPFPSVR PFPSVELFPS EEPFPSKEPS PSEEPSASEE
PYTPSPPVPS WTELPSSGEE SGAPDVSGDF TGSGDVSGHL DFSGQLSGDR ASGLPSGDLD
SSGLTSTVGS GLPVESGLPS GDEERIEWPS TPTVGELPSG AEILEGSASG VGDLSGLPSG
EVLETSASGV GDLSGLPSGE VLETTAPGVE DISGLPSGEV LETTAPGVED ISGLPSGEVL
ETTAPGVEDI SGLPSGEVLE TTAPGVEDIS GLPSGEVLET TAPGVEDISG LPSGEVLETT
APGVEDISGL PSGEVLETAA PGVEDISGLP SGEVLETAAP GVEDISGLPS GEVLETAAPG
VEDISGLPSG EVLETAAPGV EDISGLPSGE VLETAAPGVE DISGLPSGEV LETAAPGVED
ISGLPSGEVL ETAAPGVEDI SGLPSGEVLE TAAPGVEDIS GLPSGEVLET AAPGVEDISG
LPSGEVLETA APGVEDISGL PSGEVLETAA PGVEDISGLP SGEVLETAAP GVEDISGLPS
GEVLETAAPG VEDISGLPSG EVLETAAPGV EDISGLPSGE VLETAAPGVE DISGLPSGEV
LETAAPGVED ISGLPSGEVL ETTAPGVEEI SGLPSGEVLE TTAPGVDEIS GLPSGEVLET
TAPGVEEISG LPSGEVLETS TSAVGDLSGL PSGGEVLEIS VSGVEDISGL PSGEVVETSA
SGIEDVSELP SGEGLETSAS GVEDLSRLPS GEEVLEISAS GFGDLSGLPS GGEGLETSAS
EVGTDLSGLP SGREGLETSA SGAEDLSGLP SGKEDLVGSA SGDLDLGKLP SGTLGSGQAP
ETSGLPSGFS GEYSGVDLGS GPPSGLPDFS GLPSGFPTVS LVDSTLVEVV TASTASELEG
RGTIGISGAG EISGLPSSEL DISGRASGLP SGTELSGQAS GSPDVSGEIP GLFGVSGQPS
GFPDTSGETS GVTELSGLSS GQPGISGEAS GVLYGTSQPF GITDLSGETS GVPDLSGQPS
GLPGFSGATS GVPDLVSGTT SGSGESSGIT FVDTSLVEVA PTTFKEEEGL GSVELSGLPS
GEADLSGKSG MVDVSGQFSG TVDSSGFTSQ TPEFSGLPSG IAEVSGESSR AEIGSSLPSG
AYYGSGTPSS FPTVSLVDRT LVESVTQAPT AQEAGEGPSG ILELSGAHSG APDMSGEHSG
FLDLSGLQSG LIEPSGEPPG TPYFSGDFAS TTNVSGESSV AMGTSGEASG LPEVTLITSE
FVEGVTEPTI SQELGQRPPV THTPQLFESS GKVSTAGDIS GATPVLPGSG VEVSSVPESS
SETSAYPEAG FGASAAPEAS REDSGSPDLS ETTSAFHEAN LERSSGLGVS GSTLTFQEGE
ASAAPEVSGE STTTSDVGTE APGLPSATPT ASGDRTEISG DLSGHTSQLG VVISTSIPES
EWTQQTQRPA ETHLEIESSS LLYSGEETHT VETATSPTDA SIPASPEWKR ESESTAAAPA
RSCAEEPCGA GTCKETEGHV ICLCPPGYTG EHCNIDQEVC EEGWNKYQGH CYRHFPDRET
WVDAERRCRE QQSHLSSIVT PEEQEFVNNN AQDYQWIGLN NRTIEGDFRW SDGHPMQFEN
WRPNQPDNFF AAGEDCVVMI WHEKGEWNDV PCNYHLPFTC KKGTVACGEP PVVEHARTFG
QKKDRYEINS LVRYQCTEGF VQRHMPTIRC QPSGHWEEPQ ITCTDPTTYK RRLQKRSSRH
PRRSRPSTAH *
speed 1.22 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