Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.996459000397328 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:85436352G>AN/A show variant in all transcripts   IGV
HGNC symbol SYTL2
Ensembl transcript ID ENST00000359152
Genbank transcript ID N/A
UniProt peptide Q9HCH5
alteration type single base exchange
alteration region CDS
DNA changes c.2720C>T
cDNA.2720C>T
g.85833C>T
AA changes T907M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 907
frameshift no
known variant Reference ID: rs641393
databasehomozygous (A/A)heterozygousallele carriers
1000G71011911901
ExAC21670-1057311097
regulatory features H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6230.938
-0.2350.875
(flanking)3.2190.9
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased85831wt: 0.31 / mu: 0.53wt: GCTAGGGTACACCCTTCTCAAACGGAAATTTCGGAGACTGT
mu: GCTAGGGTACACCCTTCTCAAATGGAAATTTCGGAGACTGT		 tcaa|ACGG
Donor marginally increased85834wt: 0.5422 / mu: 0.5451 (marginal change - not scored)wt: CAAACGGAAATTTCG
mu: CAAATGGAAATTTCG		 AACG|gaaa
Donor gained858260.36mu: ACCCTTCTCAAATGG CCTT|ctca
distance from splice site 1278
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      907LVPQARVHPSQTEISETVEKVILP
mutated  not conserved    907RVHPSQMEISETVEKVIL
Ptroglodytes  all identical  ENSPTRG00000004137  383LVPQARVHPSQTEISETVEKVIL
Mmulatta  all identical  ENSMMUG00000012449  904RAHPSQTEISETVEKVVL
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000030616  410LPSENGTLPSQKEISE
Ggallus  no alignment  ENSGALG00000014079  n/a
Trubripes  no alignment  ENSTRUG00000001148  n/a
Drerio  no alignment  ENSDARG00000061956  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000012793  n/a
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5343 / 5343
position (AA) of stopcodon in wt / mu AA sequence 1781 / 1781
position of stopcodon in wt / mu cDNA 5343 / 5343
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 1 / 1
chromosome 11
strand -1
last intron/exon boundary 5198
theoretical NMD boundary in CDS 5147
length of CDS 5343
coding sequence (CDS) position 2720
cDNA position
(for ins/del: last normal base / first normal base)		 2720
gDNA position
(for ins/del: last normal base / first normal base)		 85833
chromosomal position
(for ins/del: last normal base / first normal base)		 85436352
original gDNA sequence snippet TAGGGTACACCCTTCTCAAACGGAAATTTCGGAGACTGTAG
altered gDNA sequence snippet TAGGGTACACCCTTCTCAAATGGAAATTTCGGAGACTGTAG
original cDNA sequence snippet TAGGGTACACCCTTCTCAAACGGAAATTTCGGAGACTGTAG
altered cDNA sequence snippet TAGGGTACACCCTTCTCAAATGGAAATTTCGGAGACTGTAG
wildtype AA sequence MINSSLSMLF SYLEKYFYVA DELSHCVEPE PSQVPGGSSR DRQQGKPPPL PALKAKTSSR
SGPYATEIKK STDDSIFKVL DWFNRSSYSD DNKSFLQHPR GIESKEKTDS KSQVAVDLVT
DDTTLRENGS KTLSPSKIEL KPVRSDSPFQ AEGDMLVSES CQDNNVNIKS KFMNLSQKGT
PKEGPGILQP FESYGTPSQG SKNMDYSQDS KSPGKGNGAS PSNSNYSYSV LKESDAENQV
PCNTNNIGNL GEEEPKFHAH EENRGHSEVN FDSSTVVKEP GLKDNMNAER KSKVGNTYIL
KASLEPENIK STPGVANNGS PWKKPEVQFQ QEAGEVPKNQ VQREKYKRVS DRISFWEGEK
AGAKITHEKP TSSCSQEQPS AKAYQPVKKS QGVSSMDSLS TDQSEYNQAI PKRVVLDEDD
QASQLSNSYS SNKSKETKPQ IAGPSRYYLS AEQSDKVSLF QNKKNEPIKR SQVADSLPSR
RNITLPALQP PSNVGSERHA PLEKDRPLVR ESNANFKVMS LKERMDEPNA EQVYNPSQFE
NLRKFWDLEA NSNSKDNDKN ITTTSQKNSA PFNRQKHKEF SDIKLSGKNT HEAEVLLSPK
KVMAREEMEK LNSKGILQVL PDEITFPLSP LRKYTYQLPG NESSKENVEK NTEGIVTPVF
KEEKDYSEQE IQESIIKTNV LSKDCKDTFN DSLQKLLSET STPAIQPSGG KVHGKQVLEP
SVSENRTWPQ KTDFADTEEE VKGPEKIINE HVDKTVVHPK VKRNSLTASL DKLLKEATGT
SPSPLQAKLA PVITGTNSKL EEGRFFGKGI EQSHNTSADK REILAPFPVR DETFGNTALL
KKAESGECQL STQNLIQMAA EDSHPLDPTS QLSRKGSFGD VASPPQDMLF PQDAHLVPQA
RVHPSQTEIS ETVEKVILPP RPVLNDVSAA LQKLCGEVWL SYPAGREVGP GEVNPEFPEA
VQPVCSPLNP PGVISPWATM DTIVPDRKDF YSSNVVPDKT HEVGSYLAAQ MSPSDQTLSS
FASIVAQYGK GLPQEVEEIV RETIVQPKSE FLEFSAGLEK LLKEETETFP SKYESDTGNL
SPSKLIGSTE EPRRATSECH PEELKETVEK AEAPLITESA FDAGFEKLLK EITEAPPYQP
QVSVREETHE KESSQSEQTR FLGTVPHFYR AASQTSEMKD KSNGLESQVN QCDKMLGGDA
LVTDLLVDFC GSRSGVEIPR TPQLYVAHEI GTIKTVTPPE DRDSESGVAG GQGTLQEPGF
GEASEAISVS RNRQPIPLLM NKENSTKTSK VELTLASPYM KQEKEEEKEG FSESDFSDGN
TSSNAESWRN PSSSEEEPSP VLKTLERSAA RKMPSKSLED ISSDSSNQAK VDNQPEELVR
SAEDVSTVPT QPDNPFSHPD KLKRMSKSVP AFLQDESDDR ETDTASESSY QLSRHKKSPS
SLTNLSSSSG MTSLSSVSGS VMSVYSGDFG NLEVKGNIQF AIEYVESLKE LHVFVAQCKD
LAAADVKKQR SDPYVKAYLL PDKGKMGKKK TLVVKKTLNP VYNEILRYKI EKQILKTQKL
NLSIWHRDTF KRNSFLGEVE LDLETWDWDN KQNKQLRWYP LKRKTAPVAL EAENRGEMKL
ALQYVPEPVP GKKLPTTGEV HIWVKECLDL PLLRGSHLNS FVKCTILPDT SRKSRQKTRA
VGKTTNPIFN HTMVYDGFRP EDLMEACVEL TVWDHYKLTN QFLGGLRIGF GTGKSYGTEV
DWMDSTSEEV ALWEKMVNSP NTWIEATLPL RMLLIAKISK *
mutated AA sequence MINSSLSMLF SYLEKYFYVA DELSHCVEPE PSQVPGGSSR DRQQGKPPPL PALKAKTSSR
SGPYATEIKK STDDSIFKVL DWFNRSSYSD DNKSFLQHPR GIESKEKTDS KSQVAVDLVT
DDTTLRENGS KTLSPSKIEL KPVRSDSPFQ AEGDMLVSES CQDNNVNIKS KFMNLSQKGT
PKEGPGILQP FESYGTPSQG SKNMDYSQDS KSPGKGNGAS PSNSNYSYSV LKESDAENQV
PCNTNNIGNL GEEEPKFHAH EENRGHSEVN FDSSTVVKEP GLKDNMNAER KSKVGNTYIL
KASLEPENIK STPGVANNGS PWKKPEVQFQ QEAGEVPKNQ VQREKYKRVS DRISFWEGEK
AGAKITHEKP TSSCSQEQPS AKAYQPVKKS QGVSSMDSLS TDQSEYNQAI PKRVVLDEDD
QASQLSNSYS SNKSKETKPQ IAGPSRYYLS AEQSDKVSLF QNKKNEPIKR SQVADSLPSR
RNITLPALQP PSNVGSERHA PLEKDRPLVR ESNANFKVMS LKERMDEPNA EQVYNPSQFE
NLRKFWDLEA NSNSKDNDKN ITTTSQKNSA PFNRQKHKEF SDIKLSGKNT HEAEVLLSPK
KVMAREEMEK LNSKGILQVL PDEITFPLSP LRKYTYQLPG NESSKENVEK NTEGIVTPVF
KEEKDYSEQE IQESIIKTNV LSKDCKDTFN DSLQKLLSET STPAIQPSGG KVHGKQVLEP
SVSENRTWPQ KTDFADTEEE VKGPEKIINE HVDKTVVHPK VKRNSLTASL DKLLKEATGT
SPSPLQAKLA PVITGTNSKL EEGRFFGKGI EQSHNTSADK REILAPFPVR DETFGNTALL
KKAESGECQL STQNLIQMAA EDSHPLDPTS QLSRKGSFGD VASPPQDMLF PQDAHLVPQA
RVHPSQMEIS ETVEKVILPP RPVLNDVSAA LQKLCGEVWL SYPAGREVGP GEVNPEFPEA
VQPVCSPLNP PGVISPWATM DTIVPDRKDF YSSNVVPDKT HEVGSYLAAQ MSPSDQTLSS
FASIVAQYGK GLPQEVEEIV RETIVQPKSE FLEFSAGLEK LLKEETETFP SKYESDTGNL
SPSKLIGSTE EPRRATSECH PEELKETVEK AEAPLITESA FDAGFEKLLK EITEAPPYQP
QVSVREETHE KESSQSEQTR FLGTVPHFYR AASQTSEMKD KSNGLESQVN QCDKMLGGDA
LVTDLLVDFC GSRSGVEIPR TPQLYVAHEI GTIKTVTPPE DRDSESGVAG GQGTLQEPGF
GEASEAISVS RNRQPIPLLM NKENSTKTSK VELTLASPYM KQEKEEEKEG FSESDFSDGN
TSSNAESWRN PSSSEEEPSP VLKTLERSAA RKMPSKSLED ISSDSSNQAK VDNQPEELVR
SAEDVSTVPT QPDNPFSHPD KLKRMSKSVP AFLQDESDDR ETDTASESSY QLSRHKKSPS
SLTNLSSSSG MTSLSSVSGS VMSVYSGDFG NLEVKGNIQF AIEYVESLKE LHVFVAQCKD
LAAADVKKQR SDPYVKAYLL PDKGKMGKKK TLVVKKTLNP VYNEILRYKI EKQILKTQKL
NLSIWHRDTF KRNSFLGEVE LDLETWDWDN KQNKQLRWYP LKRKTAPVAL EAENRGEMKL
ALQYVPEPVP GKKLPTTGEV HIWVKECLDL PLLRGSHLNS FVKCTILPDT SRKSRQKTRA
VGKTTNPIFN HTMVYDGFRP EDLMEACVEL TVWDHYKLTN QFLGGLRIGF GTGKSYGTEV
DWMDSTSEEV ALWEKMVNSP NTWIEATLPL RMLLIAKISK *
speed 0.70 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