Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:113234507T>CN/A show variant in all transcripts   IGV
HGNC symbol SVEP1
Ensembl transcript ID ENST00000374469
Genbank transcript ID N/A
UniProt peptide Q4LDE5
alteration type single base exchange
alteration region CDS
DNA changes c.2627A>G
cDNA.2891A>G
g.107654A>G
AA changes K876R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS
876
frameshift no
known variant Reference ID: rs10817025
databasehomozygous (C/C)heterozygousallele carriers
1000G133731864
ExAC41672176025927
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2050.013
0.5650.009
(flanking)0.2140.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      876VQETATSIGNAKSSRIKRSAPLSD
mutated  all conserved    876VQETATSIGNARSSRIKRSAPLS
Ptroglodytes  all conserved  ENSPTRG00000021246  899VQETATSIGNARSSRIKRSAPLS
Mmulatta  no homologue    
Fcatus  all conserved  ENSFCAG00000004796  636VQETPS--GKARSSRMKRSALLS
Mmusculus  all conserved  ENSMUSG00000028369  898VQETPTDVGKARSSRIKRTVPLS
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0032797  n/a
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 10647 / 10647
position (AA) of stopcodon in wt / mu AA sequence 3549 / 3549
position of stopcodon in wt / mu cDNA 10911 / 10911
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 265 / 265
chromosome 9
strand -1
last intron/exon boundary 10890
theoretical NMD boundary in CDS 10575
length of CDS 10647
coding sequence (CDS) position 2627
cDNA position
(for ins/del: last normal base / first normal base)
2891
gDNA position
(for ins/del: last normal base / first normal base)
107654
chromosomal position
(for ins/del: last normal base / first normal base)
113234507
original gDNA sequence snippet CACAAGCATCGGCAATGCCAAGTCCTCACGGATTAAAAGAA
altered gDNA sequence snippet CACAAGCATCGGCAATGCCAGGTCCTCACGGATTAAAAGAA
original cDNA sequence snippet CACAAGCATCGGCAATGCCAAGTCCTCACGGATTAAAAGAA
altered cDNA sequence snippet CACAAGCATCGGCAATGCCAGGTCCTCACGGATTAAAAGAA
wildtype AA sequence MSPSRNFSFR LFPETAPGAP GSIPAPPAPG DEAAGSRVER LGQAFRRRVR LLRELSERLE
LVFLVDDSSS VGEVNFRSEL MFVRKLLSDF PVVPTATRVA IVTFSSKNYV VPRVDYISTR
RARQHKCALL LQEIPAISYR GGGTYTKGAF QQAAQILLHA RENSTKVVFL ITDGYSNGGD
PRPIAASLRD SGVEIFTFGI WQGNIRELND MASTPKEEHC YLLHSFEEFE ALARRALHED
LPSGSFIQDD MVHCSYLCDE GKDCCDRMGS CKCGTHTGHF ECICEKGYYG KGLQYECTAC
PSGTYKPEGS PGGISSCIPC PDENHTSPPG STSPEDCVCR EGYRASGQTC ELVHCPALKP
PENGYFIQNT CNNHFNAACG VRCHPGFDLV GSSIILCLPN GLWSGSESYC RVRTCPHLRQ
PKHGHISCST REMLYKTTCL VACDEGYRLE GSDKLTCQGN SQWDGPEPRC VERHCSTFQM
PKDVIISPHN CGKQPAKFGT ICYVSCRQGF ILSGVKEMLR CTTSGKWNVG VQAAVCKDVE
APQINCPKDI EAKTLEQQDS ANVTWQIPTA KDNSGEKVSV HVHPAFTPPY LFPIGDVAIV
YTATDLSGNQ ASCIFHIKVI DAEPPVIDWC RSPPPVQVSE KVHAASWDEP QFSDNSGAEL
VITRSHTQGD LFPQGETIVQ YTATDPSGNN RTCDIHIVIK GSPCEIPFTP VNGDFICTPD
NTGVNCTLTC LEGYDFTEGS TDKYYCAYED GVWKPTYTTE WPDCAKKRFA NHGFKSFEMF
YKAARCDDTD LMKKFSEAFE TTLGKMVPSF CSDAEDIDCR LEENLTKKYC LEYNYDYENG
FAIGPGGWGA ANRLDYSYDD FLDTVQETAT SIGNAKSSRI KRSAPLSDYK IKLIFNITAS
VPLPDERNDT LEWENQQRLL QTLETITNKL KRTLNKDPMY SFQLASEILI ADSNSLETKK
ASPFCRPGSV LRGRMCVNCP LGTYYNLEHF TCESCRIGSY QDEEGQLECK LCPSGMYTEY
IHSRNISDCK AQCKQGTYSY SGLETCESCP LGTYQPKFGS RSCLSCPENT STVKRGAVNI
SACGVPCPEG KFSRSGLMPC HPCPRDYYQP NAGKAFCLAC PFYGTTPFAG SRSITECSSF
SSTFSAAEES VVPPASLGHI KKRHEISSQV FHECFFNPCH NSGTCQQLGR GYVCLCPLGY
TGLKCETDID ECSPLPCLNN GVCKDLVGEF ICECPSGYTG QRCEENINEC SSSPCLNKGI
CVDGVAGYRC TCVKGFVGLH CETEVNECQS NPCLNNAVCE DQVGGFLCKC PPGFLGTRCG
KNVDECLSQP CKNGATCKDG ANSFRCLCAA GFTGSHCELN INECQSNPCR NQATCVDELN
SYSCKCQPGF SGKRCETEQS TGFNLDFEVS GIYGYVMLDG MLPSLHALTC TFWMKSSDDM
NYGTPISYAV DNGSDNTLLL TDYNGWVLYV NGREKITNCP SVNDGRWHHI AITWTSANGI
WKVYIDGKLS DGGAGLSVGL PIPGGGALVL GQEQDKKGEG FSPAESFVGS ISQLNLWDYV
LSPQQVKSLA TSCPEELSKG NVLAWPDFLS GIVGKVKIDS KSIFCSDCPR LGGSVPHLRT
ASEDLKPGSK VNLFCDPGFQ LVGNPVQYCL NQGQWTQPLP HCERISCGVP PPLENGFHSA
DDFYAGSTVT YQCNNGYYLL GDSRMFCTDN GSWNGVSPSC LDVDECAVGS DCSEHASCLN
VDGSYICSCV PPYTGDGKNC AEPIKCKAPG NPENGHSSGE IYTVGAEVTF SCQEGYQLMG
VTKITCLESG EWNHLIPYCK AVSCGKPAIP ENGCIEELAF TFGSKVTYRC NKGYTLAGDK
ESSCLANSSW SHSPPVCEPV KCSSPENINN GKYILSGLTY LSTASYSCDT GYSLQGPSII
ECTASGIWDR APPACHLVFC GEPPAIKDAV ITGNNFTFRN TVTYTCKEGY TLAGLDTIEC
LADGKWSRSD QQCLAVSCDE PPIVDHASPE TAHRLFGDIA FYYCSDGYSL ADNSQLLCNA
QGKWVPPEGQ DMPRCIAHFC EKPPSVSYSI LESVSKAKFA AGSVVSFKCM EGFVLNTSAK
IECMRGGQWN PSPMSIQCIP VRCGEPPSIM NGYASGSNYS FGAMVAYSCN KGFYIKGEKK
STCEATGQWS SPIPTCHPVS CGEPPKVENG FLEHTTGRIF ESEVRYQCNP GYKSVGSPVF
VCQANRHWHS ESPLMCVPLD CGKPPPIQNG FMKGENFEVG SKVQFFCNEG YELVGDSSWT
CQKSGKWNKK SNPKCMPAKC PEPPLLENQL VLKELTTEVG VVTFSCKEGH VLQGPSVLKC
LPSQQWNDSF PVCKIVLCTP PPLISFGVPI PSSALHFGST VKYSCVGGFF LRGNSTTLCQ
PDGTWSSPLP ECVPVECPQP EEIPNGIIDV QGLAYLSTAL YTCKPGFELV GNTTTLCGEN
GHWLGGKPTC KAIECLKPKE ILNGKFSYTD LHYGQTVTYS CNRGFRLEGP SALTCLETGD
WDVDAPSCNA IHCDSPQPIE NGFVEGADYS YGAIIIYSCF PGFQVAGHAM QTCEESGWSS
SIPTCMPIDC GLPPHIDFGD CTKLKDDQGY FEQEDDMMEV PYVTPHPPYH LGAVAKTWEN
TKESPATHSS NFLYGTMVSY TCNPGYELLG NPVLICQEDG TWNGSAPSCI SIECDLPTAP
ENGFLRFTET SMGSAVQYSC KPGHILAGSD LRLCLENRKW SGASPRCEAI SCKKPNPVMN
GSIKGSNYTY LSTLYYECDP GYVLNGTERR TCQDDKNWDE DEPICIPVDC SSPPVSANGQ
VRGDEYTFQK EIEYTCNEGF LLEGARSRVC LANGSWSGAT PDCVPVRCAT PPQLANGVTE
GLDYGFMKEV TFHCHEGYIL HGAPKLTCQS DGNWDAEIPL CKPVNCGPPE DLAHGFPNGF
SFIHGGHIQY QCFPGYKLHG NSSRRCLSNG SWSGSSPSCL PCRCSTPVIE YGTVNGTDFD
CGKAARIQCF KGFKLLGLSE ITCEADGQWS SGFPHCEHTS CGSLPMIPNA FISETSSWKE
NVITYSCRSG YVIQGSSDLI CTEKGVWSQP YPVCEPLSCG SPPSVANAVA TGEAHTYESE
VKLRCLEGYT MDTDTDTFTC QKDGRWFPER ISCSPKKCPL PENITHILVH GDDFSVNRQV
SVSCAEGYTF EGVNISVCQL DGTWEPPFSD ESCSPVSCGK PESPEHGFVV GSKYTFESTI
IYQCEPGYEL EGNRERVCQE NRQWSGGVAI CKETRCETPL EFLNGKADIE NRTTGPNVVY
SCNRGYSLEG PSEAHCTENG TWSHPVPLCK PNPCPVPFVI PENALLSEKE FYVDQNVSIK
CREGFLLQGH GIITCNPDET WTQTSAKCEK ISCGPPAHVE NAIARGVHYQ YGDMITYSCY
SGYMLEGFLR SVCLENGTWT SPPICRAVCR FPCQNGGICQ RPNACSCPEG WMGRLCEEPI
CILPCLNGGR CVAPYQCDCP PGWTGSRCHT AVCQSPCLNG GKCVRPNRCH CLSSWTGHNC
SRKRRTGF*
mutated AA sequence MSPSRNFSFR LFPETAPGAP GSIPAPPAPG DEAAGSRVER LGQAFRRRVR LLRELSERLE
LVFLVDDSSS VGEVNFRSEL MFVRKLLSDF PVVPTATRVA IVTFSSKNYV VPRVDYISTR
RARQHKCALL LQEIPAISYR GGGTYTKGAF QQAAQILLHA RENSTKVVFL ITDGYSNGGD
PRPIAASLRD SGVEIFTFGI WQGNIRELND MASTPKEEHC YLLHSFEEFE ALARRALHED
LPSGSFIQDD MVHCSYLCDE GKDCCDRMGS CKCGTHTGHF ECICEKGYYG KGLQYECTAC
PSGTYKPEGS PGGISSCIPC PDENHTSPPG STSPEDCVCR EGYRASGQTC ELVHCPALKP
PENGYFIQNT CNNHFNAACG VRCHPGFDLV GSSIILCLPN GLWSGSESYC RVRTCPHLRQ
PKHGHISCST REMLYKTTCL VACDEGYRLE GSDKLTCQGN SQWDGPEPRC VERHCSTFQM
PKDVIISPHN CGKQPAKFGT ICYVSCRQGF ILSGVKEMLR CTTSGKWNVG VQAAVCKDVE
APQINCPKDI EAKTLEQQDS ANVTWQIPTA KDNSGEKVSV HVHPAFTPPY LFPIGDVAIV
YTATDLSGNQ ASCIFHIKVI DAEPPVIDWC RSPPPVQVSE KVHAASWDEP QFSDNSGAEL
VITRSHTQGD LFPQGETIVQ YTATDPSGNN RTCDIHIVIK GSPCEIPFTP VNGDFICTPD
NTGVNCTLTC LEGYDFTEGS TDKYYCAYED GVWKPTYTTE WPDCAKKRFA NHGFKSFEMF
YKAARCDDTD LMKKFSEAFE TTLGKMVPSF CSDAEDIDCR LEENLTKKYC LEYNYDYENG
FAIGPGGWGA ANRLDYSYDD FLDTVQETAT SIGNARSSRI KRSAPLSDYK IKLIFNITAS
VPLPDERNDT LEWENQQRLL QTLETITNKL KRTLNKDPMY SFQLASEILI ADSNSLETKK
ASPFCRPGSV LRGRMCVNCP LGTYYNLEHF TCESCRIGSY QDEEGQLECK LCPSGMYTEY
IHSRNISDCK AQCKQGTYSY SGLETCESCP LGTYQPKFGS RSCLSCPENT STVKRGAVNI
SACGVPCPEG KFSRSGLMPC HPCPRDYYQP NAGKAFCLAC PFYGTTPFAG SRSITECSSF
SSTFSAAEES VVPPASLGHI KKRHEISSQV FHECFFNPCH NSGTCQQLGR GYVCLCPLGY
TGLKCETDID ECSPLPCLNN GVCKDLVGEF ICECPSGYTG QRCEENINEC SSSPCLNKGI
CVDGVAGYRC TCVKGFVGLH CETEVNECQS NPCLNNAVCE DQVGGFLCKC PPGFLGTRCG
KNVDECLSQP CKNGATCKDG ANSFRCLCAA GFTGSHCELN INECQSNPCR NQATCVDELN
SYSCKCQPGF SGKRCETEQS TGFNLDFEVS GIYGYVMLDG MLPSLHALTC TFWMKSSDDM
NYGTPISYAV DNGSDNTLLL TDYNGWVLYV NGREKITNCP SVNDGRWHHI AITWTSANGI
WKVYIDGKLS DGGAGLSVGL PIPGGGALVL GQEQDKKGEG FSPAESFVGS ISQLNLWDYV
LSPQQVKSLA TSCPEELSKG NVLAWPDFLS GIVGKVKIDS KSIFCSDCPR LGGSVPHLRT
ASEDLKPGSK VNLFCDPGFQ LVGNPVQYCL NQGQWTQPLP HCERISCGVP PPLENGFHSA
DDFYAGSTVT YQCNNGYYLL GDSRMFCTDN GSWNGVSPSC LDVDECAVGS DCSEHASCLN
VDGSYICSCV PPYTGDGKNC AEPIKCKAPG NPENGHSSGE IYTVGAEVTF SCQEGYQLMG
VTKITCLESG EWNHLIPYCK AVSCGKPAIP ENGCIEELAF TFGSKVTYRC NKGYTLAGDK
ESSCLANSSW SHSPPVCEPV KCSSPENINN GKYILSGLTY LSTASYSCDT GYSLQGPSII
ECTASGIWDR APPACHLVFC GEPPAIKDAV ITGNNFTFRN TVTYTCKEGY TLAGLDTIEC
LADGKWSRSD QQCLAVSCDE PPIVDHASPE TAHRLFGDIA FYYCSDGYSL ADNSQLLCNA
QGKWVPPEGQ DMPRCIAHFC EKPPSVSYSI LESVSKAKFA AGSVVSFKCM EGFVLNTSAK
IECMRGGQWN PSPMSIQCIP VRCGEPPSIM NGYASGSNYS FGAMVAYSCN KGFYIKGEKK
STCEATGQWS SPIPTCHPVS CGEPPKVENG FLEHTTGRIF ESEVRYQCNP GYKSVGSPVF
VCQANRHWHS ESPLMCVPLD CGKPPPIQNG FMKGENFEVG SKVQFFCNEG YELVGDSSWT
CQKSGKWNKK SNPKCMPAKC PEPPLLENQL VLKELTTEVG VVTFSCKEGH VLQGPSVLKC
LPSQQWNDSF PVCKIVLCTP PPLISFGVPI PSSALHFGST VKYSCVGGFF LRGNSTTLCQ
PDGTWSSPLP ECVPVECPQP EEIPNGIIDV QGLAYLSTAL YTCKPGFELV GNTTTLCGEN
GHWLGGKPTC KAIECLKPKE ILNGKFSYTD LHYGQTVTYS CNRGFRLEGP SALTCLETGD
WDVDAPSCNA IHCDSPQPIE NGFVEGADYS YGAIIIYSCF PGFQVAGHAM QTCEESGWSS
SIPTCMPIDC GLPPHIDFGD CTKLKDDQGY FEQEDDMMEV PYVTPHPPYH LGAVAKTWEN
TKESPATHSS NFLYGTMVSY TCNPGYELLG NPVLICQEDG TWNGSAPSCI SIECDLPTAP
ENGFLRFTET SMGSAVQYSC KPGHILAGSD LRLCLENRKW SGASPRCEAI SCKKPNPVMN
GSIKGSNYTY LSTLYYECDP GYVLNGTERR TCQDDKNWDE DEPICIPVDC SSPPVSANGQ
VRGDEYTFQK EIEYTCNEGF LLEGARSRVC LANGSWSGAT PDCVPVRCAT PPQLANGVTE
GLDYGFMKEV TFHCHEGYIL HGAPKLTCQS DGNWDAEIPL CKPVNCGPPE DLAHGFPNGF
SFIHGGHIQY QCFPGYKLHG NSSRRCLSNG SWSGSSPSCL PCRCSTPVIE YGTVNGTDFD
CGKAARIQCF KGFKLLGLSE ITCEADGQWS SGFPHCEHTS CGSLPMIPNA FISETSSWKE
NVITYSCRSG YVIQGSSDLI CTEKGVWSQP YPVCEPLSCG SPPSVANAVA TGEAHTYESE
VKLRCLEGYT MDTDTDTFTC QKDGRWFPER ISCSPKKCPL PENITHILVH GDDFSVNRQV
SVSCAEGYTF EGVNISVCQL DGTWEPPFSD ESCSPVSCGK PESPEHGFVV GSKYTFESTI
IYQCEPGYEL EGNRERVCQE NRQWSGGVAI CKETRCETPL EFLNGKADIE NRTTGPNVVY
SCNRGYSLEG PSEAHCTENG TWSHPVPLCK PNPCPVPFVI PENALLSEKE FYVDQNVSIK
CREGFLLQGH GIITCNPDET WTQTSAKCEK ISCGPPAHVE NAIARGVHYQ YGDMITYSCY
SGYMLEGFLR SVCLENGTWT SPPICRAVCR FPCQNGGICQ RPNACSCPEG WMGRLCEEPI
CILPCLNGGR CVAPYQCDCP PGWTGSRCHT AVCQSPCLNG GKCVRPNRCH CLSSWTGHNC
SRKRRTGF*
speed 1.02 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