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 ENST00000490882
Genbank transcript ID NM_001164317
UniProt peptide O75369
alteration type single base exchange
alteration region CDS
DNA changes c.602C>T
cDNA.767C>T
g.70378C>T
AA changes A201V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 201
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      201DPQKPVDNAREAMQQADDWLGVPQ
mutated  not conserved    201DPQKPVDNAREVMQQADDWLGVP
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
139239DOMAINCH 2.lost
194208HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 7902 / 7902
position (AA) of stopcodon in wt / mu AA sequence 2634 / 2634
position of stopcodon in wt / mu cDNA 8067 / 8067
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 166 / 166
chromosome 3
strand 1
last intron/exon boundary 7880
theoretical NMD boundary in CDS 7664
length of CDS 7902
coding sequence (CDS) position 602
cDNA position
(for ins/del: last normal base / first normal base)		 767
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 MPVTEKDLAE DAPWKKIQQN TFTRWCNEHL KCVNKRIGNL QTDLSDGLRL IALLEVLSQK
RMYRKYHQRP TFRQMQLENV SVALEFLDRE SIKLVSIDSK AIVDGNLKLI LGLVWTLILH
YSISMPVWED EGDDDAKKQT PKQRLLGWIQ NKIPYLPITN FNQNWQDGKA LGALVDSCAP
GLCPDWESWD PQKPVDNARE AMQQADDWLG VPQVITPEEI IHPDVDEHSV MTYLSQFPKA
KLKPGAPLKP KLNPKKARAY GRGIEPTGNM VKQPAKFTVD TISAGQGDVM VFVEDPEGNK
EEAQVTPDSD KNKTYSVEYL PKVTGLHKVT VLFAGQHISK SPFEVSVDKA QGDASKVTAK
GPGLEAVGNI ANKPTYFDIY TAGAGVGDIG VEVEDPQGKN TVELLVEDKG NQVYRCVYKP
MQPGPHVVKI FFAGDTIPKS PFVVQVGEAC NPNACRASGR GLQPKGVRIR ETTDFKVDTK
AAGSGELGVT MKGPKGLEEL VKQKDFLDGV YAFEYYPSTP GRYSIAITWG GHHIPKSPFE
VQVGPEAGMQ KVRAWGPGLH GGIVGRSADF VVESIGSEVG SLGFAIEGPS QAKIEYNDQN
DGSCDVKYWP KEPGEYAVHI MCDDEDIKDS PYMAFIHPAT GGYNPDLVRA YGPGLEKSGC
IVNNLAEFTV DPKDAGKAPL KIFAQDGEGQ RIDIQMKNRM DGTYACSYTP VKAIKHTIAV
VWGGVNIPHS PYRVNIGQGS HPQKVKVFGP GVERSGLKAN EPTHFTVDCT EAGEGDVSVG
IKCDARVLSE DEEDVDFDII HNANDTFTVK YVPPAAGRYT IKVLFASQEI PASPFRVKVD
PSHDASKVKA EGPGLSKAGV ENGKPTHFTV YTKGAGKAPL NVQFNSPLPG DAVKDLDIID
NYDYSHTVKY TPTQQGNMQV LVTYGGDPIP KSPFTVGVAA PLDLSKIKLN GLENRVEVGK
DQEFTVDTRG AGGQGKLDVT ILSPSRKVVP CLVTPVTGRE NSTAKFIPRE EGLYAVDVTY
DGHPVPGSPY TVEASLPPDP SKVKAHGPGL EGGLVGKPAE FTIDTKGAGT GGLGLTVEGP
CEAKIECSDN GDGTCSVSYL PTKPGEYFVN ILFEEVHIPG SPFKADIEMP FDPSKVVASG
PGLEHGKVGE AGLLSVDCSE AGPGALGLEA VSDSGTKAEV SIQNNKDGTY AVTYVPLTAG
MYTLTMKYGG ELVPHFPARV KVEPAVDTSR IKVFGPGIEG KDVFREATTD FTVDSRPLTQ
VGGDHIKAHI ANPSGASTEC FVTDNADGTY QVEYTPFEKG LHVVEVTYDD VPIPNSPFKV
AVTEGCQPSR VQAQGPGLKE AFTNKPNVFT VVTRGAGIGG LGITVEGPSE SKINCRDNKD
GSCSAEYIPF APGDYDVNIT YGGAHIPGSP FRVPVKDVVD PSKVKIAGPG LGSGVRARVL
QSFTVDSSKA GLAPLEVRVL GPRADDTDSQ SWRSPLKALS EFFKGDPKGD FNKTGLVEPV
NVVDNGDGTH TVTYTPSQEG PYMVSVKYAD EEIPRSPFKV KVLPTYDASK VTASGPGLSS
YGVPASLPVD FAIDARDAGE GLLAVQITDQ EGKPKRAIVH DNKDGTYAVT YIPDKTGRYM
IGVTYGGDDI PLSPYRIRAT QTGDASKCLA TGPGIASTVK TGEEVGFVVD AKTAGKGKVT
CTVLTPDGTE AEADVIENED GTYDIFYTAA KPGTYVIYVR FGGVDIPNSP FTVMATDGEV
TAVEEAPVNA CPPGFRPWVT EEAYVPVSDM NGLGFKPFDL VIPFAVRKGE ITGEVHMPSG
KTATPEIVDN KDGTVTVRYA PTEVGLHEMH IKYMGSHIPE SPLQFYVNYP NSGSVSAYGP
GLVYGVANKT ATFTIVTEDA GEGGLDLAIE GPSKAEISCI DNKDGTCTVT YLPTLPGDYS
ILVKYNDKHI PGSPFTAKIT DDSRRCSQVK LGSAADFLLD ISETDLSSLT ASIKAPSGRD
EPCLLKRLPN NHIGISFIPR EVGEHLVSIK KNGNHVANSP VSIMVVQSEI GDARRAKVYG
RGLSEGRTFE MSDFIVDTRD AGYGGISLAV EGPSKVDIQT EDLEDGTCKV SYFPTVPGVY
IVSTKFADEH VPGSPFTVKI SGEGRVKESI TRTSRAPSVA TVGSICDLNL KIPEINSSDM
SAHVTSPSGR VTEAEIVPMG KNSHCVRFVP QEMGVHTVSV KYRGQHVTGS PFQFTVGPLG
EGGAHKVRAG GPGLERGEAG VPAEFSIWTR EAGAGGLSIA VEGPSKAEIT FDDHKNGSCG
VSYIAQEPGN YEVSIKFNDE HIPESPYLVP VIAPSDDARR LTVMSLQESG LKVNQPASFA
IRLNGAKGKI DAKVHSPSGA VEECHVSELE PDKYAVRFIP HENGVHTIDV KFNGSHVVGS
PFKVRVGEPG QAGNPALVSA YGTGLEGGTT GIQSEFFINT TRAGPGTLSV TIEGPSKVKM
DCQETPEGYK VMYTPMAPGN YLISVKYGGP NHIVGSPFKA KVTGQRLVSP GSANETSSIL
VESVTRSSTE TCYSAIPKAS SDASKVTSKG AGLSKAFVGQ KSSFLVDCSK AGSNMLLIGV
HGPTTPCEEV SMKHVGNQQY NVTYVVKERG DYVLAVKWGE EHIPGSPFHV TVP*
mutated AA sequence MPVTEKDLAE DAPWKKIQQN TFTRWCNEHL KCVNKRIGNL QTDLSDGLRL IALLEVLSQK
RMYRKYHQRP TFRQMQLENV SVALEFLDRE SIKLVSIDSK AIVDGNLKLI LGLVWTLILH
YSISMPVWED EGDDDAKKQT PKQRLLGWIQ NKIPYLPITN FNQNWQDGKA LGALVDSCAP
GLCPDWESWD PQKPVDNARE VMQQADDWLG VPQVITPEEI IHPDVDEHSV MTYLSQFPKA
KLKPGAPLKP KLNPKKARAY GRGIEPTGNM VKQPAKFTVD TISAGQGDVM VFVEDPEGNK
EEAQVTPDSD KNKTYSVEYL PKVTGLHKVT VLFAGQHISK SPFEVSVDKA QGDASKVTAK
GPGLEAVGNI ANKPTYFDIY TAGAGVGDIG VEVEDPQGKN TVELLVEDKG NQVYRCVYKP
MQPGPHVVKI FFAGDTIPKS PFVVQVGEAC NPNACRASGR GLQPKGVRIR ETTDFKVDTK
AAGSGELGVT MKGPKGLEEL VKQKDFLDGV YAFEYYPSTP GRYSIAITWG GHHIPKSPFE
VQVGPEAGMQ KVRAWGPGLH GGIVGRSADF VVESIGSEVG SLGFAIEGPS QAKIEYNDQN
DGSCDVKYWP KEPGEYAVHI MCDDEDIKDS PYMAFIHPAT GGYNPDLVRA YGPGLEKSGC
IVNNLAEFTV DPKDAGKAPL KIFAQDGEGQ RIDIQMKNRM DGTYACSYTP VKAIKHTIAV
VWGGVNIPHS PYRVNIGQGS HPQKVKVFGP GVERSGLKAN EPTHFTVDCT EAGEGDVSVG
IKCDARVLSE DEEDVDFDII HNANDTFTVK YVPPAAGRYT IKVLFASQEI PASPFRVKVD
PSHDASKVKA EGPGLSKAGV ENGKPTHFTV YTKGAGKAPL NVQFNSPLPG DAVKDLDIID
NYDYSHTVKY TPTQQGNMQV LVTYGGDPIP KSPFTVGVAA PLDLSKIKLN GLENRVEVGK
DQEFTVDTRG AGGQGKLDVT ILSPSRKVVP CLVTPVTGRE NSTAKFIPRE EGLYAVDVTY
DGHPVPGSPY TVEASLPPDP SKVKAHGPGL EGGLVGKPAE FTIDTKGAGT GGLGLTVEGP
CEAKIECSDN GDGTCSVSYL PTKPGEYFVN ILFEEVHIPG SPFKADIEMP FDPSKVVASG
PGLEHGKVGE AGLLSVDCSE AGPGALGLEA VSDSGTKAEV SIQNNKDGTY AVTYVPLTAG
MYTLTMKYGG ELVPHFPARV KVEPAVDTSR IKVFGPGIEG KDVFREATTD FTVDSRPLTQ
VGGDHIKAHI ANPSGASTEC FVTDNADGTY QVEYTPFEKG LHVVEVTYDD VPIPNSPFKV
AVTEGCQPSR VQAQGPGLKE AFTNKPNVFT VVTRGAGIGG LGITVEGPSE SKINCRDNKD
GSCSAEYIPF APGDYDVNIT YGGAHIPGSP FRVPVKDVVD PSKVKIAGPG LGSGVRARVL
QSFTVDSSKA GLAPLEVRVL GPRADDTDSQ SWRSPLKALS EFFKGDPKGD FNKTGLVEPV
NVVDNGDGTH TVTYTPSQEG PYMVSVKYAD EEIPRSPFKV KVLPTYDASK VTASGPGLSS
YGVPASLPVD FAIDARDAGE GLLAVQITDQ EGKPKRAIVH DNKDGTYAVT YIPDKTGRYM
IGVTYGGDDI PLSPYRIRAT QTGDASKCLA TGPGIASTVK TGEEVGFVVD AKTAGKGKVT
CTVLTPDGTE AEADVIENED GTYDIFYTAA KPGTYVIYVR FGGVDIPNSP FTVMATDGEV
TAVEEAPVNA CPPGFRPWVT EEAYVPVSDM NGLGFKPFDL VIPFAVRKGE ITGEVHMPSG
KTATPEIVDN KDGTVTVRYA PTEVGLHEMH IKYMGSHIPE SPLQFYVNYP NSGSVSAYGP
GLVYGVANKT ATFTIVTEDA GEGGLDLAIE GPSKAEISCI DNKDGTCTVT YLPTLPGDYS
ILVKYNDKHI PGSPFTAKIT DDSRRCSQVK LGSAADFLLD ISETDLSSLT ASIKAPSGRD
EPCLLKRLPN NHIGISFIPR EVGEHLVSIK KNGNHVANSP VSIMVVQSEI GDARRAKVYG
RGLSEGRTFE MSDFIVDTRD AGYGGISLAV EGPSKVDIQT EDLEDGTCKV SYFPTVPGVY
IVSTKFADEH VPGSPFTVKI SGEGRVKESI TRTSRAPSVA TVGSICDLNL KIPEINSSDM
SAHVTSPSGR VTEAEIVPMG KNSHCVRFVP QEMGVHTVSV KYRGQHVTGS PFQFTVGPLG
EGGAHKVRAG GPGLERGEAG VPAEFSIWTR EAGAGGLSIA VEGPSKAEIT FDDHKNGSCG
VSYIAQEPGN YEVSIKFNDE HIPESPYLVP VIAPSDDARR LTVMSLQESG LKVNQPASFA
IRLNGAKGKI DAKVHSPSGA VEECHVSELE PDKYAVRFIP HENGVHTIDV KFNGSHVVGS
PFKVRVGEPG QAGNPALVSA YGTGLEGGTT GIQSEFFINT TRAGPGTLSV TIEGPSKVKM
DCQETPEGYK VMYTPMAPGN YLISVKYGGP NHIVGSPFKA KVTGQRLVSP GSANETSSIL
VESVTRSSTE TCYSAIPKAS SDASKVTSKG AGLSKAFVGQ KSSFLVDCSK AGSNMLLIGV
HGPTTPCEEV SMKHVGNQQY NVTYVVKERG DYVLAVKWGE EHIPGSPFHV TVP*
speed 1.27 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