Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999862446 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM062736)
  • known disease mutation: rs21293 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:58064504C>TN/A show variant in all transcripts   IGV
HGNC symbol FLNB
Ensembl transcript ID ENST00000493452
Genbank transcript ID N/A
UniProt peptide O75369
alteration type single base exchange
alteration region CDS
DNA changes c.95C>T
cDNA.252C>T
g.70378C>T
AA changes A32V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 32
frameshift no
known variant Reference ID: rs80356499
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs21293 (pathogenic for Atelosteogenesis type III) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM062736)

known disease mutation at this position, please check HGMD for details (HGMD ID CM062736)
known disease mutation at this position, please check HGMD for details (HGMD ID CM062736)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.1631
6.1631
(flanking)1.491
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 increased70376wt: 0.9972 / mu: 0.9974 (marginal change - not scored)wt: CGAGAAGCCATGCAG
mu: CGAGAAGTCATGCAG		 AGAA|gcca
distance from splice site 38
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      32DPQKPVDNAREAMQQADDWLGVPQ
mutated  not conserved    32DPQKPVDNAREVMQQADDWLGVP
Ptroglodytes  all identical  ENSPTRG00000015054  201DPQKPVDNAREAMQQADDWLGVP
Mmulatta  all identical  ENSMMUG00000000706  201DPQKPVDNAREAMQQADDWLGVP
Fcatus  no alignment  ENSFCAG00000006518  n/a
Mmusculus  all identical  ENSMUSG00000025278  201DPRKPVDNAREAMQQADDWLGVP
Ggallus  all identical  ENSGALG00000005678  104DPSKPVDNAREAMQQADDWLGVP
Trubripes  all identical  ENSTRUG00000005042  202DPVKPVENATEAMQLADDWLGIP
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000008663  201DPKKPVENAREAMQQADDWLGVP
protein features
start (aa)end (aa)featuredetails 
1239DOMAINActin-binding.lost
16122DOMAINCH 1.lost
3133HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 7230 / 7230
position (AA) of stopcodon in wt / mu AA sequence 2410 / 2410
position of stopcodon in wt / mu cDNA 7387 / 7387
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 158 / 158
chromosome 3
strand 1
last intron/exon boundary 7200
theoretical NMD boundary in CDS 6992
length of CDS 7230
coding sequence (CDS) position 95
cDNA position
(for ins/del: last normal base / first normal base)		 252
gDNA position
(for ins/del: last normal base / first normal base)		 70378
chromosomal position
(for ins/del: last normal base / first normal base)		 58064504
original gDNA sequence snippet TGTGGATAATGCACGAGAAGCCATGCAGCAGGCAGATGACT
altered gDNA sequence snippet TGTGGATAATGCACGAGAAGTCATGCAGCAGGCAGATGACT
original cDNA sequence snippet TGTGGATAATGCACGAGAAGCCATGCAGCAGGCAGATGACT
altered cDNA sequence snippet TGTGGATAATGCACGAGAAGTCATGCAGCAGGCAGATGACT
wildtype AA sequence MQEHSTRRRS LSLCPDWESW DPQKPVDNAR EAMQQADDWL GVPQVITPEE IIHPDVDEHS
VMTYLSQFPK AKLKPGAPLK PKLNPKKARA YGRGIEPTGN MVKQPAKFTV DTISAGQGDV
MVFVEDPEGN KEEAQVTPDS DKNKTYSVEY LPKVTGLHKV TVLFAGQHIS KSPFEVSVDK
AQGDASKVTA KGPGLEAVGN IANKPTYFDI YTAGAGVGDI GVEVEDPQGK NTVELLVEDK
GNQVYRCVYK PMQPGPHVVK IFFAGDTIPK SPFVVQVGEA CNPNACRASG RGLQPKGVRI
RETTDFKVDT KAAGSGELGV TMKGPKGLEE LVKQKDFLDG VYAFEYYPST PGRYSIAITW
GGHHIPKSPF EVQVGPEAGM QKVRAWGPGL HGGIVGRSAD FVVESIGSEV GSLGFAIEGP
SQAKIEYNDQ NDGSCDVKYW PKEPGEYAVH IMCDDEDIKD SPYMAFIHPA TGGYNPDLVR
AYGPGLEKSG CIVNNLAEFT VDPKDAGKAP LKIFAQDGEG QRIDIQMKNR MDGTYACSYT
PVKAIKHTIA VVWGGVNIPH SPYRVNIGQG SHPQKVKVFG PGVERSGLKA NEPTHFTVDC
TEAGEGDVSV GIKCDARVLS EDEEDVDFDI IHNANDTFTV KYVPPAAGRY TIKVLFASQE
IPASPFRVKV DPSHDASKVK AEGPGLSKAG VENGKPTHFT VYTKGAGKAP LNVQFNSPLP
GDAVKDLDII DNYDYSHTVK YTPTQQGNMQ VLVTYGGDPI PKSPFTVGVA APLDLSKIKL
NGLENRVEVG KDQEFTVDTR GAGGQGKLDV TILSPSRKVV PCLVTPVTGR ENSTAKFIPR
EEGLYAVDVT YDGHPVPGSP YTVEASLPPD PSKVKAHGPG LEGGLVGKPA EFTIDTKGAG
TGGLGLTVEG PCEAKIECSD NGDGTCSVSY LPTKPGEYFV NILFEEVHIP GSPFKADIEM
PFDPSKVVAS GPGLEHGKVG EAGLLSVDCS EAGPGALGLE AVSDSGTKAE VSIQNNKDGT
YAVTYVPLTA GMYTLTMKYG GELVPHFPAR VKVEPAVDTS RIKVFGPGIE GKDVFREATT
DFTVDSRPLT QVGGDHIKAH IANPSGASTE CFVTDNADGT YQVEYTPFEK GLHVVEVTYD
DVPIPNSPFK VAVTEGCQPS RVQAQGPGLK EAFTNKPNVF TVVTRGAGIG GLGITVEGPS
ESKINCRDNK DGSCSAEYIP FAPGDYDVNI TYGGAHIPGS PFRVPVKDVV DPSKVKIAGP
GLGSGVRARV LQSFTVDSSK AGLAPLEVRV LGPRGLVEPV NVVDNGDGTH TVTYTPSQEG
PYMVSVKYAD EEIPRSPFKV KVLPTYDASK VTASGPGLSS YGVPASLPVD FAIDARDAGE
GLLAVQITDQ EGKPKRAIVH DNKDGTYAVT YIPDKTGRYM IGVTYGGDDI PLSPYRIRAT
QTGDASKCLA TGPGIASTVK TGEEVGFVVD AKTAGKGKVT CTVLTPDGTE AEADVIENED
GTYDIFYTAA KPGTYVIYVR FGGVDIPNSP FTVMVTEEAY VPVSDMNGLG FKPFDLVIPF
AVRKGEITGE VHMPSGKTAT PEIVDNKDGT VTVRYAPTEV GLHEMHIKYM GSHIPESPLQ
FYVNYPNSGS VSAYGPGLVY GVANKTATFT IVTEDAGEGG LDLAIEGPSK AEISCIDNKD
GTCTVTYLPT LPGDYSILVK YNDKHIPGSP FTAKITDDSR RCSQVKLGSA ADFLLDISET
DLSSLTASIK APSGRDEPCL LKRLPNNHIG ISFIPREVGE HLVSIKKNGN HVANSPVSIM
VVQSEIGDAR RAKVYGRGLS EGRTFEMSDF IVDTRDAGYG GISLAVEGPS KVDIQTEDLE
DGTCKVSYFP TVPGVYIVST KFADEHVPGS PFTVKISGEG RVKESITRTS RAPSVATVGS
ICDLNLKIPE INSSDMSAHV TSPSGRVTEA EIVPMGKNSH CVRFVPQEMG VHTVSVKYRG
QHVTGSPFQF TVGPLGEGGA HKVRAGGPGL ERGEAGVPAE FSIWTREAGA GGLSIAVEGP
SKAEITFDDH KNGSCGVSYI AQEPGNYEVS IKFNDEHIPE SPYLVPVIAP SDDARRLTVM
SLQESGLKVN QPASFAIRLN GAKGKIDAKV HSPSGAVEEC HVSELEPDKY AVRFIPHENG
VHTIDVKFNG SHVVGSPFKV RVGEPGQAGN PALVSAYGTG LEGGTTGIQS EFFINTTRAG
PGTLSVTIEG PSKVKMDCQE TPEGYKVMYT PMAPGNYLIS VKYGGPNHIV GSPFKAKVTG
QRLVSPGSAN ETSSILVESV TRSSTETCYS AIPKASSDAS KVTSKGAGLS KAFVGQKSSF
LVDCSKAGSN MLLIGVHGPT TPCEEVSMKH VGNQQYNVTY VVKERGDYVL AVKWGEEHIP
GSPFHVTVP*
mutated AA sequence MQEHSTRRRS LSLCPDWESW DPQKPVDNAR EVMQQADDWL GVPQVITPEE IIHPDVDEHS
VMTYLSQFPK AKLKPGAPLK PKLNPKKARA YGRGIEPTGN MVKQPAKFTV DTISAGQGDV
MVFVEDPEGN KEEAQVTPDS DKNKTYSVEY LPKVTGLHKV TVLFAGQHIS KSPFEVSVDK
AQGDASKVTA KGPGLEAVGN IANKPTYFDI YTAGAGVGDI GVEVEDPQGK NTVELLVEDK
GNQVYRCVYK PMQPGPHVVK IFFAGDTIPK SPFVVQVGEA CNPNACRASG RGLQPKGVRI
RETTDFKVDT KAAGSGELGV TMKGPKGLEE LVKQKDFLDG VYAFEYYPST PGRYSIAITW
GGHHIPKSPF EVQVGPEAGM QKVRAWGPGL HGGIVGRSAD FVVESIGSEV GSLGFAIEGP
SQAKIEYNDQ NDGSCDVKYW PKEPGEYAVH IMCDDEDIKD SPYMAFIHPA TGGYNPDLVR
AYGPGLEKSG CIVNNLAEFT VDPKDAGKAP LKIFAQDGEG QRIDIQMKNR MDGTYACSYT
PVKAIKHTIA VVWGGVNIPH SPYRVNIGQG SHPQKVKVFG PGVERSGLKA NEPTHFTVDC
TEAGEGDVSV GIKCDARVLS EDEEDVDFDI IHNANDTFTV KYVPPAAGRY TIKVLFASQE
IPASPFRVKV DPSHDASKVK AEGPGLSKAG VENGKPTHFT VYTKGAGKAP LNVQFNSPLP
GDAVKDLDII DNYDYSHTVK YTPTQQGNMQ VLVTYGGDPI PKSPFTVGVA APLDLSKIKL
NGLENRVEVG KDQEFTVDTR GAGGQGKLDV TILSPSRKVV PCLVTPVTGR ENSTAKFIPR
EEGLYAVDVT YDGHPVPGSP YTVEASLPPD PSKVKAHGPG LEGGLVGKPA EFTIDTKGAG
TGGLGLTVEG PCEAKIECSD NGDGTCSVSY LPTKPGEYFV NILFEEVHIP GSPFKADIEM
PFDPSKVVAS GPGLEHGKVG EAGLLSVDCS EAGPGALGLE AVSDSGTKAE VSIQNNKDGT
YAVTYVPLTA GMYTLTMKYG GELVPHFPAR VKVEPAVDTS RIKVFGPGIE GKDVFREATT
DFTVDSRPLT QVGGDHIKAH IANPSGASTE CFVTDNADGT YQVEYTPFEK GLHVVEVTYD
DVPIPNSPFK VAVTEGCQPS RVQAQGPGLK EAFTNKPNVF TVVTRGAGIG GLGITVEGPS
ESKINCRDNK DGSCSAEYIP FAPGDYDVNI TYGGAHIPGS PFRVPVKDVV DPSKVKIAGP
GLGSGVRARV LQSFTVDSSK AGLAPLEVRV LGPRGLVEPV NVVDNGDGTH TVTYTPSQEG
PYMVSVKYAD EEIPRSPFKV KVLPTYDASK VTASGPGLSS YGVPASLPVD FAIDARDAGE
GLLAVQITDQ EGKPKRAIVH DNKDGTYAVT YIPDKTGRYM IGVTYGGDDI PLSPYRIRAT
QTGDASKCLA TGPGIASTVK TGEEVGFVVD AKTAGKGKVT CTVLTPDGTE AEADVIENED
GTYDIFYTAA KPGTYVIYVR FGGVDIPNSP FTVMVTEEAY VPVSDMNGLG FKPFDLVIPF
AVRKGEITGE VHMPSGKTAT PEIVDNKDGT VTVRYAPTEV GLHEMHIKYM GSHIPESPLQ
FYVNYPNSGS VSAYGPGLVY GVANKTATFT IVTEDAGEGG LDLAIEGPSK AEISCIDNKD
GTCTVTYLPT LPGDYSILVK YNDKHIPGSP FTAKITDDSR RCSQVKLGSA ADFLLDISET
DLSSLTASIK APSGRDEPCL LKRLPNNHIG ISFIPREVGE HLVSIKKNGN HVANSPVSIM
VVQSEIGDAR RAKVYGRGLS EGRTFEMSDF IVDTRDAGYG GISLAVEGPS KVDIQTEDLE
DGTCKVSYFP TVPGVYIVST KFADEHVPGS PFTVKISGEG RVKESITRTS RAPSVATVGS
ICDLNLKIPE INSSDMSAHV TSPSGRVTEA EIVPMGKNSH CVRFVPQEMG VHTVSVKYRG
QHVTGSPFQF TVGPLGEGGA HKVRAGGPGL ERGEAGVPAE FSIWTREAGA GGLSIAVEGP
SKAEITFDDH KNGSCGVSYI AQEPGNYEVS IKFNDEHIPE SPYLVPVIAP SDDARRLTVM
SLQESGLKVN QPASFAIRLN GAKGKIDAKV HSPSGAVEEC HVSELEPDKY AVRFIPHENG
VHTIDVKFNG SHVVGSPFKV RVGEPGQAGN PALVSAYGTG LEGGTTGIQS EFFINTTRAG
PGTLSVTIEG PSKVKMDCQE TPEGYKVMYT PMAPGNYLIS VKYGGPNHIV GSPFKAKVTG
QRLVSPGSAN ETSSILVESV TRSSTETCYS AIPKASSDAS KVTSKGAGLS KAFVGQKSSF
LVDCSKAGSN MLLIGVHGPT TPCEEVSMKH VGNQQYNVTY VVKERGDYVL AVKWGEEHIP
GSPFHVTVP*
speed 1.09 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