Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999997122187 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:228503677A>GN/A show variant in all transcripts   IGV
HGNC symbol OBSCN
Ensembl transcript ID ENST00000366709
Genbank transcript ID N/A
UniProt peptide Q5VST9
alteration type single base exchange
alteration region CDS
DNA changes c.4499A>G
cDNA.13186A>G
g.107847A>G
AA changes H1500R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1500
frameshift no
known variant Reference ID: rs1150912
databasehomozygous (G/G)heterozygousallele carriers
1000G12879362223
ExAC21322-987711445
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.5880.771
-0.7940.005
(flanking)-0.1830.008
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 130
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1500AHTWLLDDEPVHTSENAEVVFFEN
mutated  not conserved    1500AHTWLLDDEPVRTSENAEVVFFE
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000023096  1380AHTWLLDDEPVRTSENAEVVYFE
Fcatus  not conserved  ENSFCAG00000000673  4380AHTWLLDDEPVRTSENAEVVYFE
Mmusculus  not conserved  ENSMUSG00000061462  4609GVPLQCNEMNDITV-E
Ggallus  not conserved  ENSGALG00000004754  4385DDEPAKTTENTEMVYFE
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000043309  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
14381524DOMAINIg-like 15.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 11220 / 11220
position (AA) of stopcodon in wt / mu AA sequence 3740 / 3740
position of stopcodon in wt / mu cDNA 19907 / 19907
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 8688 / 8688
chromosome 1
strand 1
last intron/exon boundary 18749
theoretical NMD boundary in CDS 10011
length of CDS 11220
coding sequence (CDS) position 4499
cDNA position
(for ins/del: last normal base / first normal base)		 13186
gDNA position
(for ins/del: last normal base / first normal base)		 107847
chromosomal position
(for ins/del: last normal base / first normal base)		 228503677
original gDNA sequence snippet GCTGGACGACGAACCCGTGCACACCTCGGAGAACGCCGAGG
altered gDNA sequence snippet GCTGGACGACGAACCCGTGCGCACCTCGGAGAACGCCGAGG
original cDNA sequence snippet GCTGGACGACGAACCCGTGCACACCTCGGAGAACGCCGAGG
altered cDNA sequence snippet GCTGGACGACGAACCCGTGCGCACCTCGGAGAACGCCGAGG
wildtype AA sequence MLVIRGASLK DAGEYTCEVE ASKSTASLHV EEKANCFTEE LTNLQVEEKG TAVFTCKTEH
PAATVTWRKG LLELRASGKH QPSQEGLTLR LTISALEKAD SDTYTCDIGQ AQSRAQLLVQ
GRRVHIIEDL EDVDVQEGSS ATFRCRISPA NYEPVHWFLD KTPLHANELN EIDAQPGGYH
VLTLRQLALK DSGTIYFEAG DQRASAALRV TEKPSVFSRE LTDATITEGE DLTLVCETST
CDIPVCWTKD GKTLRGSARC QLSHEGHRAQ LLITGATLQD SGRYKCEAGG ACSSSIVRVH
ARPVRFQEAL KDLEVLEGGA ATLRCVLSSV AAPVKWCYGN NVLRPGDKYS LRQEGAMLEL
VVRNLRPQDS GRYSCSFGDQ TTSATLTVTA LPAQFIGKLR NKEATEGATA TLRCELSKAA
PVEWRKGSET LRDGDRYCLR QDGAMCELQI RGLAMVDAAE YSCVCGEERT SASLTIRPMP
AHFIGRLRHQ ESIEGATATL RCELSKAAPV EWRKGRESLR DGDRHSLRQD GAVCELQICG
LAVADAGEYS CVCGEERTSA TLTVKALPAK FTEGLRNEEA VEGATAMLWC ELSKVAPVEW
RKGPENLRDG DRYILRQEGT RCELQICGLA MADAGEYLCV CGQERTSATL TIRALPARFI
EDVKNQEARE GATAVLQCEL NSAAPVEWRK GSETLRDGDR YSLRQDGTKC ELQIRGLAMA
DTGEYSCVCG QERTSAMLTV RALPIKFTEG LRNEEATEGA TAVLRCELSK MAPVEWWKGH
ETLRDGDRHS LRQDGARCEL QIRGLVAEDA GEYLCMCGKE RTSAMLTVRA MPSKFIEGLR
NEEATEGDTA TLWCELSKAA PVEWRKGHET LRDGDRHSLR QDGSRCELQI RGLAVVDAGE
YSCVCGQERT SATLTVRALP ARFIEDVKNQ EAREGATAVL QCELSKAAPV EWRKGSETLR
GGDRYSLRQD GTRCELQIHG LSVADTGEYS CVCGQERTSA TLTVRAPQPV FREPLQSLQA
EEGSTATLQC ELSEPTATVV WSKGGLQLQA NGRREPRLQG CTAELVLQDL QREDTGEYTC
TCGSQATSAT LTVTAAPVRF LRELQHQEVD EGGTAHLCCE LSRAGASVEW RKGSLQLFPC
AKYQMVQDGA AAELLVRGVE QEDAGDYTCD TGHTQSMASL SVRVPRPKFK TRLQSLEQET
GDIARLCCQL SDAESGAVVQ WLKEGVELHA GPKYEMRSQG ATRELLIHQL EAKDTGEYAC
VTGGQKTAAS LRVTEPEVTI VRGLVDAEVT ADEDVEFSCE VSRAGATGVQ WCLQGLPLQS
NEVTEVAVRD GRIHTLRLKG VTPEDAGTVS FHLGNHASSA QLTVRAPEVT ILEPLQDVQL
SEGQDASFQC RLSRASGQEA RWALGGVPLQ ANEMNDITVE QGTLHLLTLH KVTLEDAGTV
SFHVGTCSSE AQLKVTAKNT VVRGLENVEA LEGGEALFEC QLSQPEVAAH TWLLDDEPVH
TSENAEVVFF ENGLRHLLLL KNLRPQDSCR VTFLAGDMVT SAFLTVRGWR LEILEPLKNA
AVRAGAQACF TCTLSEAVPV GEASWYINGA AVQPDDSDWT VTADGSHHAL LLRSAQPHHA
GEVTFACRDA VASARLTVLG LPDPPEDAEV VARSSHTVTL SWAAPMSDGG GGLCGYRVEV
KEGATGQWRL CHELVPGPEC VVDGLAPGET YRFRVAAVGP VGAGEPVHLP QTVRLAEPPK
PVPPQPSAPE SRQVAAGEDV SLELEVVAEA GEVIWHKGME RIQPGGRFEV VSQGRQQMLV
IKGFTAEDQG EYHCGLAQGS ICPAAATFQV ALSPASVDEA PQPSLPPEAA QEGDLHLLWE
ALARKRRMSR EPTLDSISEL PEEDGRSQRL PQEAEEVAPD LSEGYSTADE LARTGDADLS
HTSSDDESRA GTPSLVTYLK KAGRPGTSPL ASKVGAPAAP SVKPQQQQEP LAAVRPPLGD
LSTKDLGDPS MDKAAVKIQA AFKGYKVRKE MKQQEGPMFS HTFGDTEAQV GDALRLECVV
ASKADVRARW LKDGVELTDG RHHHIDQLGD GTCSLLITGL DRADAGCYTC QVSNKFGQVT
HSACVVVSGS ESEAESSSGG ELDDAFRRAA RRLHRLFRTK SPAEVSDEEL FLSADEGPAE
PEEPADWQTY REDEHFICIR FEALTEARQA VTRFQEMFAT LGIGVEIKLV EQGPRRVEMC
ISKETPAPVV PPEPLPSLLT SDAAPVFLTE LQNQEVQDGY PVSFDCVVTG QPMPSVRWFK
DGKLLEEDDH YMINEDQQGG HQLIITAVVP ADMGVYRCLA ENSMGVSSTK AELRVDLTST
DYDTAADATE SSSYFSAQGY LSSREQEGTE STTDEGQLPQ VVEELRDLQV APGTRLAKFQ
LKVKGYPAPR LYWFKDGQPL TASAHIRMTD KKILHTLEII SVTREDSGQY AAYISNAMGA
AYSSARLLVR GPDEPEEKPA SDVHEQLVPP RMLERFTPKK VKKGSSITFS VKVEGRPVPT
VHWLREEAER GVLWIGPDTP GYTVASSAQQ HSLVLLDVGR QHQGTYTCIA SNAAGQALCS
ASLHVSGLPK VEEQEKVKEA LISTFLQGTT QAISAQGLET ASFADLGGQR KEEPLAAKEA
LGHLSLAEVG TEEFLQKLTS QITEMVSAKI TQAKLQVPGG DSDEDSKTPS ASPRHGRSRP
SSSIQESSSE SEDGDARGEI FDIYVVTADY LPLGAEQDAI TLREGQYVEV LDAAHPLRWL
VRTKPTKSSP SRQGWVSPAY LDRRLKLSPE WGAAEAPEFP GEAVSEDEYK ARLSSVIQEL
LSSEQAFVEE LQFLQSHHLQ HLERCPHVPI AVAGQKAVIF RNVRDIGRFH SSFLQELQQC
DTDDDVAMCF IKNQAAFEQY LEFLVGRVQA ESVVVSTAIQ EFYKKYAEEA LLAGDPSQPP
PPPLQHYLEQ PVERVQRYQA LLKELIRNKA RNRQNCALLE QAYAVVSALP QRAENKLHVS
LMENYPGTLQ ALGEPIRQGH FIVWEGAPGA RMPWKGHNRH VFLFRNHLVI CKPRRDSRTD
TVSYVFRNMM KLSSIDLNDQ VEGDDRAFEV WQEREDSVRK YLLQARTAII KSSWVKEICG
IQQRLALPVW RPPDFEEELA DCTAELGETV KLACRVTGTP KPVISWYKDG KAVQVDPHHI
LIEDPDGSCA LILDSLTGVD SGQYMCFAAS AAGNCSTLGK ILVQVPPRFV NKVRASPFVE
GEDAQFTCTI EGAPYPQIRW YKDGALLTTG NKFQTLSEPR SGLLVLVIRA ASKEDLGLYE
CELVNRLGSA RASAELRIQS PMLQAQEQCH REQLVAAVEV TEQETKVPKK TVIIEETITT
VVKSPRGQRR SPSKSPSRSP SRCSASPLRP GLLAPDLLYL PGAGQPRRPE AEPGQKPVVP
TLYVTEAEAH SPALPGLSGP QPKWVEVEET IEVRVKKMGP QGVSPTTEVP RSSSGHLFTL
PGATPGGDPN SNNSNNKLLA QEAWAQGTAM VGVREPLVFR VDARGSVDWA ASGMGSLEEE
GTMEEAGEEE GEDGDAFVTE ESQDTHSLGD RDPKILTHNG RMLTLADLED YVPGEGETFH
CGGPGPGAPD DPPCEVSVIQ REIGEPTVGQ PVLLSVGHAL GPRGPLGLFR PEPRGASPPG
PQVRSLEGTS FLLREAPARP VGSAPWTQSF CTRIRRSADS GQSSFTTELS TQTVNFGTVG
ETVTLHICPD RDGDEAAQP*
mutated AA sequence MLVIRGASLK DAGEYTCEVE ASKSTASLHV EEKANCFTEE LTNLQVEEKG TAVFTCKTEH
PAATVTWRKG LLELRASGKH QPSQEGLTLR LTISALEKAD SDTYTCDIGQ AQSRAQLLVQ
GRRVHIIEDL EDVDVQEGSS ATFRCRISPA NYEPVHWFLD KTPLHANELN EIDAQPGGYH
VLTLRQLALK DSGTIYFEAG DQRASAALRV TEKPSVFSRE LTDATITEGE DLTLVCETST
CDIPVCWTKD GKTLRGSARC QLSHEGHRAQ LLITGATLQD SGRYKCEAGG ACSSSIVRVH
ARPVRFQEAL KDLEVLEGGA ATLRCVLSSV AAPVKWCYGN NVLRPGDKYS LRQEGAMLEL
VVRNLRPQDS GRYSCSFGDQ TTSATLTVTA LPAQFIGKLR NKEATEGATA TLRCELSKAA
PVEWRKGSET LRDGDRYCLR QDGAMCELQI RGLAMVDAAE YSCVCGEERT SASLTIRPMP
AHFIGRLRHQ ESIEGATATL RCELSKAAPV EWRKGRESLR DGDRHSLRQD GAVCELQICG
LAVADAGEYS CVCGEERTSA TLTVKALPAK FTEGLRNEEA VEGATAMLWC ELSKVAPVEW
RKGPENLRDG DRYILRQEGT RCELQICGLA MADAGEYLCV CGQERTSATL TIRALPARFI
EDVKNQEARE GATAVLQCEL NSAAPVEWRK GSETLRDGDR YSLRQDGTKC ELQIRGLAMA
DTGEYSCVCG QERTSAMLTV RALPIKFTEG LRNEEATEGA TAVLRCELSK MAPVEWWKGH
ETLRDGDRHS LRQDGARCEL QIRGLVAEDA GEYLCMCGKE RTSAMLTVRA MPSKFIEGLR
NEEATEGDTA TLWCELSKAA PVEWRKGHET LRDGDRHSLR QDGSRCELQI RGLAVVDAGE
YSCVCGQERT SATLTVRALP ARFIEDVKNQ EAREGATAVL QCELSKAAPV EWRKGSETLR
GGDRYSLRQD GTRCELQIHG LSVADTGEYS CVCGQERTSA TLTVRAPQPV FREPLQSLQA
EEGSTATLQC ELSEPTATVV WSKGGLQLQA NGRREPRLQG CTAELVLQDL QREDTGEYTC
TCGSQATSAT LTVTAAPVRF LRELQHQEVD EGGTAHLCCE LSRAGASVEW RKGSLQLFPC
AKYQMVQDGA AAELLVRGVE QEDAGDYTCD TGHTQSMASL SVRVPRPKFK TRLQSLEQET
GDIARLCCQL SDAESGAVVQ WLKEGVELHA GPKYEMRSQG ATRELLIHQL EAKDTGEYAC
VTGGQKTAAS LRVTEPEVTI VRGLVDAEVT ADEDVEFSCE VSRAGATGVQ WCLQGLPLQS
NEVTEVAVRD GRIHTLRLKG VTPEDAGTVS FHLGNHASSA QLTVRAPEVT ILEPLQDVQL
SEGQDASFQC RLSRASGQEA RWALGGVPLQ ANEMNDITVE QGTLHLLTLH KVTLEDAGTV
SFHVGTCSSE AQLKVTAKNT VVRGLENVEA LEGGEALFEC QLSQPEVAAH TWLLDDEPVR
TSENAEVVFF ENGLRHLLLL KNLRPQDSCR VTFLAGDMVT SAFLTVRGWR LEILEPLKNA
AVRAGAQACF TCTLSEAVPV GEASWYINGA AVQPDDSDWT VTADGSHHAL LLRSAQPHHA
GEVTFACRDA VASARLTVLG LPDPPEDAEV VARSSHTVTL SWAAPMSDGG GGLCGYRVEV
KEGATGQWRL CHELVPGPEC VVDGLAPGET YRFRVAAVGP VGAGEPVHLP QTVRLAEPPK
PVPPQPSAPE SRQVAAGEDV SLELEVVAEA GEVIWHKGME RIQPGGRFEV VSQGRQQMLV
IKGFTAEDQG EYHCGLAQGS ICPAAATFQV ALSPASVDEA PQPSLPPEAA QEGDLHLLWE
ALARKRRMSR EPTLDSISEL PEEDGRSQRL PQEAEEVAPD LSEGYSTADE LARTGDADLS
HTSSDDESRA GTPSLVTYLK KAGRPGTSPL ASKVGAPAAP SVKPQQQQEP LAAVRPPLGD
LSTKDLGDPS MDKAAVKIQA AFKGYKVRKE MKQQEGPMFS HTFGDTEAQV GDALRLECVV
ASKADVRARW LKDGVELTDG RHHHIDQLGD GTCSLLITGL DRADAGCYTC QVSNKFGQVT
HSACVVVSGS ESEAESSSGG ELDDAFRRAA RRLHRLFRTK SPAEVSDEEL FLSADEGPAE
PEEPADWQTY REDEHFICIR FEALTEARQA VTRFQEMFAT LGIGVEIKLV EQGPRRVEMC
ISKETPAPVV PPEPLPSLLT SDAAPVFLTE LQNQEVQDGY PVSFDCVVTG QPMPSVRWFK
DGKLLEEDDH YMINEDQQGG HQLIITAVVP ADMGVYRCLA ENSMGVSSTK AELRVDLTST
DYDTAADATE SSSYFSAQGY LSSREQEGTE STTDEGQLPQ VVEELRDLQV APGTRLAKFQ
LKVKGYPAPR LYWFKDGQPL TASAHIRMTD KKILHTLEII SVTREDSGQY AAYISNAMGA
AYSSARLLVR GPDEPEEKPA SDVHEQLVPP RMLERFTPKK VKKGSSITFS VKVEGRPVPT
VHWLREEAER GVLWIGPDTP GYTVASSAQQ HSLVLLDVGR QHQGTYTCIA SNAAGQALCS
ASLHVSGLPK VEEQEKVKEA LISTFLQGTT QAISAQGLET ASFADLGGQR KEEPLAAKEA
LGHLSLAEVG TEEFLQKLTS QITEMVSAKI TQAKLQVPGG DSDEDSKTPS ASPRHGRSRP
SSSIQESSSE SEDGDARGEI FDIYVVTADY LPLGAEQDAI TLREGQYVEV LDAAHPLRWL
VRTKPTKSSP SRQGWVSPAY LDRRLKLSPE WGAAEAPEFP GEAVSEDEYK ARLSSVIQEL
LSSEQAFVEE LQFLQSHHLQ HLERCPHVPI AVAGQKAVIF RNVRDIGRFH SSFLQELQQC
DTDDDVAMCF IKNQAAFEQY LEFLVGRVQA ESVVVSTAIQ EFYKKYAEEA LLAGDPSQPP
PPPLQHYLEQ PVERVQRYQA LLKELIRNKA RNRQNCALLE QAYAVVSALP QRAENKLHVS
LMENYPGTLQ ALGEPIRQGH FIVWEGAPGA RMPWKGHNRH VFLFRNHLVI CKPRRDSRTD
TVSYVFRNMM KLSSIDLNDQ VEGDDRAFEV WQEREDSVRK YLLQARTAII KSSWVKEICG
IQQRLALPVW RPPDFEEELA DCTAELGETV KLACRVTGTP KPVISWYKDG KAVQVDPHHI
LIEDPDGSCA LILDSLTGVD SGQYMCFAAS AAGNCSTLGK ILVQVPPRFV NKVRASPFVE
GEDAQFTCTI EGAPYPQIRW YKDGALLTTG NKFQTLSEPR SGLLVLVIRA ASKEDLGLYE
CELVNRLGSA RASAELRIQS PMLQAQEQCH REQLVAAVEV TEQETKVPKK TVIIEETITT
VVKSPRGQRR SPSKSPSRSP SRCSASPLRP GLLAPDLLYL PGAGQPRRPE AEPGQKPVVP
TLYVTEAEAH SPALPGLSGP QPKWVEVEET IEVRVKKMGP QGVSPTTEVP RSSSGHLFTL
PGATPGGDPN SNNSNNKLLA QEAWAQGTAM VGVREPLVFR VDARGSVDWA ASGMGSLEEE
GTMEEAGEEE GEDGDAFVTE ESQDTHSLGD RDPKILTHNG RMLTLADLED YVPGEGETFH
CGGPGPGAPD DPPCEVSVIQ REIGEPTVGQ PVLLSVGHAL GPRGPLGLFR PEPRGASPPG
PQVRSLEGTS FLLREAPARP VGSAPWTQSF CTRIRRSADS GQSSFTTELS TQTVNFGTVG
ETVTLHICPD RDGDEAAQP*
speed 0.71 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