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MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000356083
MT speed 0 s - this script 3.551293 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
COL27A1polymorphism_automatic4.31987778881648e-13simple_aaeaffectedI537Tsingle base exchangers2808770show file

Taster files

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Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999568 (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) chr9:116931445T>CN/A show variant in all transcripts   IGV
HGNC symbol COL27A1
Ensembl transcript ID ENST00000356083
Genbank transcript ID NM_032888
UniProt peptide Q8IZC6
alteration type single base exchange
alteration region CDS
DNA changes c.1610T>C
cDNA.2001T>C
g.13606T>C
AA changes I537T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS
537
frameshift no
known variant Reference ID: rs2808770
databasehomozygous (C/C)heterozygousallele carriers
1000G147797944
ExAC39722154525517
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.290.027
2.0450.051
(flanking)-0.0640.04
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 increased13611wt: 0.9137 / mu: 0.9181 (marginal change - not scored)wt: TTGGATCGGAAGCCT
mu: CTGGATCGGAAGCCT
 GGAT|cgga
Donor increased13597wt: 0.61 / mu: 0.69wt: AAGCAAGAAGCCCAT
mu: AAGCAAGAAGCCCAC
 GCAA|gaag
distance from splice site 299
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      537PGSAPTGSKKPIGSEASKKAGPKS
mutated  not conserved    537PGSAPTGSKKPTGSE
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000000165  514PGSGPTRTKKPSGSEATRKARPK
Mmusculus  not conserved  ENSMUSG00000045672  529TGRETSKKTRQK
Ggallus  not conserved  ENSGALG00000006958  507--SRPASRFSKRGGGNSKKS
Trubripes  not conserved  ENSTRUG00000018194  491LLAGPVGQKGEPGPSTVMVIGPI
Drerio  not conserved  ENSDARG00000028236  459PGRAPSGVKGDPGLVG-------
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000021972  493PINATYGSLCPRGSSAKSKRGGM
protein features
start (aa)end (aa)featuredetails 
42624PROPEPN-terminal propeptide. /FTId=PRO_0000314667.lost
2831621COMPBIASPro-rich.lost
625679DOMAINCollagen-like 1.might get lost (downstream of altered splice site)
6251618REGIONTriple-helical region.might get lost (downstream of altered splice site)
688747DOMAINCollagen-like 2.might get lost (downstream of altered splice site)
748807DOMAINCollagen-like 3.might get lost (downstream of altered splice site)
808867DOMAINCollagen-like 4.might get lost (downstream of altered splice site)
871930DOMAINCollagen-like 5.might get lost (downstream of altered splice site)
931990DOMAINCollagen-like 6.might get lost (downstream of altered splice site)
10031062DOMAINCollagen-like 7.might get lost (downstream of altered splice site)
10661125DOMAINCollagen-like 8.might get lost (downstream of altered splice site)
11261185DOMAINCollagen-like 9.might get lost (downstream of altered splice site)
11921251DOMAINCollagen-like 10.might get lost (downstream of altered splice site)
12581317DOMAINCollagen-like 11.might get lost (downstream of altered splice site)
13181378DOMAINCollagen-like 12.might get lost (downstream of altered splice site)
13821441DOMAINCollagen-like 13.might get lost (downstream of altered splice site)
14421501DOMAINCollagen-like 14.might get lost (downstream of altered splice site)
15021561DOMAINCollagen-like 15.might get lost (downstream of altered splice site)
15621621DOMAINCollagen-like 16.might get lost (downstream of altered splice site)
16221860PROPEPC-terminal propeptide. /FTId=PRO_0000314668.might get lost (downstream of altered splice site)
16601860DOMAINFibrillar collagen NC1.might get lost (downstream of altered splice site)
17691769CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5583 / 5583
position (AA) of stopcodon in wt / mu AA sequence 1861 / 1861
position of stopcodon in wt / mu cDNA 5974 / 5974
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 392 / 392
chromosome 9
strand 1
last intron/exon boundary 5828
theoretical NMD boundary in CDS 5386
length of CDS 5583
coding sequence (CDS) position 1610
cDNA position
(for ins/del: last normal base / first normal base)
2001
gDNA position
(for ins/del: last normal base / first normal base)
13606
chromosomal position
(for ins/del: last normal base / first normal base)
116931445
original gDNA sequence snippet CACTGGAAGCAAGAAGCCCATTGGATCGGAAGCCTCAAAGA
altered gDNA sequence snippet CACTGGAAGCAAGAAGCCCACTGGATCGGAAGCCTCAAAGA
original cDNA sequence snippet CACTGGAAGCAAGAAGCCCATTGGATCGGAAGCCTCAAAGA
altered cDNA sequence snippet CACTGGAAGCAAGAAGCCCACTGGATCGGAAGCCTCAAAGA
wildtype AA sequence MGAGSARGAR GTAAAAAARG GGFLFSWILV SFACHLASTQ GAPEDVDILQ RLGLSWTKAG
SPAPPGVIPF QSGFIFTQRA RLQAPTGTVI PAALGTELAL VLSLCSHRVN HAFLFAVRSQ
KRKLQLGLQF LPGKTVVHLG SRRSVAFDLD MHDGRWHHLA LELRGRTVTL VTACGQRRVP
VLLPFHRDPA LDPGGSFLFG KMNPHAVQFE GALCQFSIYP VTQVAHNYCT HLRKQCGQAD
TYQSPLGPLF SQDSGRPFTF QSDLALLGLE NLTTATPALG SLPAGRGPRG TVAPATPTKP
QRTSPTNPHQ HMAVGGPAQT PLLPAKLSAS NALDPMLPAS VGGSTRTPRP AAAQPSQKIT
ATKIPKSLPT KPSAPSTSIV PIKSPHPTQK TAPSSFTKSA LPTQKQVPPT SRPVPARVSR
PAEKPIQRNP GMPRPPPPST RPLPPTTSSS KKPIPTLART EAKITSHASK PASARTSTHK
PPPFTALSSS PAPTPGSTRS TRPPATMVPP TSGTSTPRTA PAVPTPGSAP TGSKKPIGSE
ASKKAGPKSS PRKPVPLRPG KAARDVPLSD LTTRPSPRQP QPSQQTTPAL VLAPAQFLSS
SPRPTSSGYS IFHLAGSTPF PLLMGPPGPK GDCGLPGPPG LPGLPGIPGA RGPRGPPGPY
GNPGLPGPPG AKGQKGDPGL SPGKAHDGAK GDMGLPGLSG NPGPPGRKGH KGYPGPAGHP
GEQGQPGPEG SPGAKGYPGR QGLPGPVGDP GPKGSRGYIG LPGLFGLPGS DGERGLPGVP
GKRGKMGMPG FPGVFGERGP PGLDGNPGEL GLPGPPGVPG LIGDLGVLGP IGYPGPKGMK
GLMGSVGEPG LKGDKGEQGV PGVSGDPGFQ GDKGSQGLPG FPGARGKPGP LGKVGDKGSI
GFPGPPGPEG FPGDIGPPGD NGPEGMKGKP GARGLPGPRG QLGPEGDEGP MGPPGAPGLE
GQPGRKGFPG RPGLDGVKGE PGDPGRPGPV GEQGFMGFIG LVGEPGIVGE KGDRGMMGPP
GVPGPKGSMG HPGMPGGMGT PGEPGPQGPP GSRGPPGMRG AKGRRGPRGP DGPAGEQGSR
GLKGPPGPQG RPGRPGQQGV AGERGHLGSR GFPGIPGPSG PPGTKGLPGE PGPQGPQGPI
GPPGEMGPKG PPGAVGEPGL PGEAGMKGDL GPLGTPGEQG LIGQRGEPGL EGDSGPMGPD
GLKGDRGDPG PDGEHGEKGQ EGLMGEDGPP GPPGVTGVRG PEGKSGKQGE KGRTGAKGAK
GYQGQLGEMG VPGDPGPPGT PGPKGSRGSL GPTGAPGRMG AQGEPGLAGY DGHKGIVGPL
GPPGPKGEKG EQGEDGKAEG PPGPPGDRGP VGDRGDRGEP GDPGYPGQEG VQGLRGKPGQ
QGQPGHPGPR GWPGPKGSKG AEGPKGKQGK AGAPGRRGVQ GLQGLPGPRG VVGRQGLEGI
AGPDGLPGRD GQAGQQGEQG DDGDPGPMGP AGKRGNPGVA GLPGAQGPPG FKGESGLPGQ
LGPPGKRGTE GRTGLPGNQG EPGSKGQPGD SGEMGFPGMA GLFGPKGPPG DIGFKGIQGP
RGPPGLMGKE GIVGPLGILG PSGLPGPKGD KGSRGDWGLQ GPRGPPGPRG RPGPPGPPGG
PIQLQQDDLG AAFQTWMDTS GALRPESYSY PDRLVLDQGG EIFKTLHYLS NLIQSIKTPL
GTKENPARVC RDLMDCEQKM VDGTYWVDPN LGCSSDTIEV SCNFTHGGQT CLKPITASKV
EFAISRVQMN FLHLLSSEVT QHITIHCLNM TVWQEGTGQT PAKQAVRFRA WNGQIFEAGG
QFRPEVSMDG CKVQDGRWHQ TLFTFRTQDP QQLPIISVDN LPPASSGKQY RLEVGPACFL
*
mutated AA sequence MGAGSARGAR GTAAAAAARG GGFLFSWILV SFACHLASTQ GAPEDVDILQ RLGLSWTKAG
SPAPPGVIPF QSGFIFTQRA RLQAPTGTVI PAALGTELAL VLSLCSHRVN HAFLFAVRSQ
KRKLQLGLQF LPGKTVVHLG SRRSVAFDLD MHDGRWHHLA LELRGRTVTL VTACGQRRVP
VLLPFHRDPA LDPGGSFLFG KMNPHAVQFE GALCQFSIYP VTQVAHNYCT HLRKQCGQAD
TYQSPLGPLF SQDSGRPFTF QSDLALLGLE NLTTATPALG SLPAGRGPRG TVAPATPTKP
QRTSPTNPHQ HMAVGGPAQT PLLPAKLSAS NALDPMLPAS VGGSTRTPRP AAAQPSQKIT
ATKIPKSLPT KPSAPSTSIV PIKSPHPTQK TAPSSFTKSA LPTQKQVPPT SRPVPARVSR
PAEKPIQRNP GMPRPPPPST RPLPPTTSSS KKPIPTLART EAKITSHASK PASARTSTHK
PPPFTALSSS PAPTPGSTRS TRPPATMVPP TSGTSTPRTA PAVPTPGSAP TGSKKPTGSE
ASKKAGPKSS PRKPVPLRPG KAARDVPLSD LTTRPSPRQP QPSQQTTPAL VLAPAQFLSS
SPRPTSSGYS IFHLAGSTPF PLLMGPPGPK GDCGLPGPPG LPGLPGIPGA RGPRGPPGPY
GNPGLPGPPG AKGQKGDPGL SPGKAHDGAK GDMGLPGLSG NPGPPGRKGH KGYPGPAGHP
GEQGQPGPEG SPGAKGYPGR QGLPGPVGDP GPKGSRGYIG LPGLFGLPGS DGERGLPGVP
GKRGKMGMPG FPGVFGERGP PGLDGNPGEL GLPGPPGVPG LIGDLGVLGP IGYPGPKGMK
GLMGSVGEPG LKGDKGEQGV PGVSGDPGFQ GDKGSQGLPG FPGARGKPGP LGKVGDKGSI
GFPGPPGPEG FPGDIGPPGD NGPEGMKGKP GARGLPGPRG QLGPEGDEGP MGPPGAPGLE
GQPGRKGFPG RPGLDGVKGE PGDPGRPGPV GEQGFMGFIG LVGEPGIVGE KGDRGMMGPP
GVPGPKGSMG HPGMPGGMGT PGEPGPQGPP GSRGPPGMRG AKGRRGPRGP DGPAGEQGSR
GLKGPPGPQG RPGRPGQQGV AGERGHLGSR GFPGIPGPSG PPGTKGLPGE PGPQGPQGPI
GPPGEMGPKG PPGAVGEPGL PGEAGMKGDL GPLGTPGEQG LIGQRGEPGL EGDSGPMGPD
GLKGDRGDPG PDGEHGEKGQ EGLMGEDGPP GPPGVTGVRG PEGKSGKQGE KGRTGAKGAK
GYQGQLGEMG VPGDPGPPGT PGPKGSRGSL GPTGAPGRMG AQGEPGLAGY DGHKGIVGPL
GPPGPKGEKG EQGEDGKAEG PPGPPGDRGP VGDRGDRGEP GDPGYPGQEG VQGLRGKPGQ
QGQPGHPGPR GWPGPKGSKG AEGPKGKQGK AGAPGRRGVQ GLQGLPGPRG VVGRQGLEGI
AGPDGLPGRD GQAGQQGEQG DDGDPGPMGP AGKRGNPGVA GLPGAQGPPG FKGESGLPGQ
LGPPGKRGTE GRTGLPGNQG EPGSKGQPGD SGEMGFPGMA GLFGPKGPPG DIGFKGIQGP
RGPPGLMGKE GIVGPLGILG PSGLPGPKGD KGSRGDWGLQ GPRGPPGPRG RPGPPGPPGG
PIQLQQDDLG AAFQTWMDTS GALRPESYSY PDRLVLDQGG EIFKTLHYLS NLIQSIKTPL
GTKENPARVC RDLMDCEQKM VDGTYWVDPN LGCSSDTIEV SCNFTHGGQT CLKPITASKV
EFAISRVQMN FLHLLSSEVT QHITIHCLNM TVWQEGTGQT PAKQAVRFRA WNGQIFEAGG
QFRPEVSMDG CKVQDGRWHQ TLFTFRTQDP QQLPIISVDN LPPASSGKQY RLEVGPACFL
*
speed 1.49 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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