Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.0118285524721911 (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) chr3:58118555G>AN/A show variant in all transcripts   IGV
HGNC symbol FLNB
Ensembl transcript ID ENST00000419752
Genbank transcript ID N/A
UniProt peptide O75369
alteration type single base exchange
alteration region CDS
DNA changes c.3904G>A
cDNA.3904G>A
g.124429G>A
AA changes V1302M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1302
frameshift no
known variant Reference ID: rs12632456
databasehomozygous (A/A)heterozygousallele carriers
1000G10639201983
ExAC12348807120419
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2310.828
0.9360.931
(flanking)3.4781
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 21
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1302LGPRGLVEPVNVVDNGDGTHTVTY
mutated  all conserved    1302LGPRGLVEPVNMVDNGDGTHTVT
Ptroglodytes  all identical  ENSPTRG00000015054  1471LGPRGLVEPVNVVDNGDGTHTVT
Mmulatta  all identical  ENSMMUG00000000706  1472LGPRGLVEPVNVVDNGDGTHTVT
Fcatus  all conserved  ENSFCAG00000006518  1437NIVDNGDGTHTVT
Mmusculus  all identical  ENSMUSG00000025278  1471LGPRGLVEPVNVVDNGDGTHTVT
Ggallus  all identical  ENSGALG00000005678  1374AGPRGIVEPVNVVDNGDGTHTVV
Trubripes  all identical  ENSTRUG00000005042  1469TGPKGVREAVEVTDGGDGKHVVS
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000008663  1475TGPRGTVEPVDLVDNGDGTHTVS
protein features
start (aa)end (aa)featuredetails 
11281511REGIONInteraction with FBLP1.lost
12231322REPEATFilamin 11.lost
13001310STRANDlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 7269 / 7269
position (AA) of stopcodon in wt / mu AA sequence 2423 / 2423
position of stopcodon in wt / mu cDNA 7269 / 7269
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 3
strand 1
last intron/exon boundary 7082
theoretical NMD boundary in CDS 7031
length of CDS 7269
coding sequence (CDS) position 3904
cDNA position
(for ins/del: last normal base / first normal base)
3904
gDNA position
(for ins/del: last normal base / first normal base)
124429
chromosomal position
(for ins/del: last normal base / first normal base)
58118555
original gDNA sequence snippet GCTTGGTGGAGCCAGTGAACGTGGTGGACAATGGAGATGGC
altered gDNA sequence snippet GCTTGGTGGAGCCAGTGAACATGGTGGACAATGGAGATGGC
original cDNA sequence snippet GCTTGGTGGAGCCAGTGAACGTGGTGGACAATGGAGATGGC
altered cDNA sequence snippet GCTTGGTGGAGCCAGTGAACATGGTGGACAATGGAGATGGC
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 FTVMATDGEV TAVEEAPVTE EAYVPVSDMN
GLGFKPFDLV IPFAVRKGEI TGEVHMPSGK TATPEIVDNK DGTVTVRYAP TEVGLHEMHI
KYMGSHIPES PLQFYVNYPN SGSVSAYGPG LVYGVANKTA TFTIVTEDAG EGGLDLAIEG
PSKAEISCID NKDGTCTVTY LPTLPGDYSI LVKYNDKHIP GSPFTAKITD DSRRCSQVKL
GSAADFLLDI SETDLSSLTA SIKAPSGRDE PCLLKRLPNN HIGISFIPRE VGEHLVSIKK
NGNHVANSPV SIMVVQSEIG DARRAKVYGR GLSEGRTFEM SDFIVDTRDA GYGGISLAVE
GPSKVDIQTE DLEDGTCKVS YFPTVPGVYI VSTKFADEHV PGSPFTVKIS GEGRVKESIT
RTSRAPSVAT VGSICDLNLK IPEINSSDMS AHVTSPSGRV TEAEIVPMGK NSHCVRFVPQ
EMGVHTVSVK YRGQHVTGSP FQFTVGPLGE GGAHKVRAGG PGLERGEAGV PAEFSIWTRE
AGAGGLSIAV EGPSKAEITF DDHKNGSCGV SYIAQEPGNY EVSIKFNDEH IPESPYLVPV
IAPSDDARRL TVMSLQESGL KVNQPASFAI RLNGAKGKID AKVHSPSGAV EECHVSELEP
DKYAVRFIPH ENGVHTIDVK FNGSHVVGSP FKVRVGEPGQ AGNPALVSAY GTGLEGGTTG
IQSEFFINTT RAGPGTLSVT IEGPSKVKMD CQETPEGYKV MYTPMAPGNY LISVKYGGPN
HIVGSPFKAK VTGQRLVSPG SANETSSILV ESVTRSSTET CYSAIPKASS DASKVTSKGA
GLSKAFVGQK SSFLVDCSKA GSNMLLIGVH GPTTPCEEVS MKHVGNQQYN VTYVVKERGD
YVLAVKWGEE HIPGSPFHVT VP*
mutated 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 NMVDNGDGTH TVTYTPSQEG
PYMVSVKYAD EEIPRSPFKV KVLPTYDASK VTASGPGLSS YGVPASLPVD FAIDARDAGE
GLLAVQITDQ EGKPKRAIVH DNKDGTYAVT YIPDKTGRYM IGVTYGGDDI PLSPYRIRAT
QTGDASKCLA TGPGIASTVK TGEEVGFVVD AKTAGKGKVT CTVLTPDGTE AEADVIENED
GTYDIFYTAA KPGTYVIYVR FGGVDIPNSP FTVMATDGEV TAVEEAPVTE EAYVPVSDMN
GLGFKPFDLV IPFAVRKGEI TGEVHMPSGK TATPEIVDNK DGTVTVRYAP TEVGLHEMHI
KYMGSHIPES PLQFYVNYPN SGSVSAYGPG LVYGVANKTA TFTIVTEDAG EGGLDLAIEG
PSKAEISCID NKDGTCTVTY LPTLPGDYSI LVKYNDKHIP GSPFTAKITD DSRRCSQVKL
GSAADFLLDI SETDLSSLTA SIKAPSGRDE PCLLKRLPNN HIGISFIPRE VGEHLVSIKK
NGNHVANSPV SIMVVQSEIG DARRAKVYGR GLSEGRTFEM SDFIVDTRDA GYGGISLAVE
GPSKVDIQTE DLEDGTCKVS YFPTVPGVYI VSTKFADEHV PGSPFTVKIS GEGRVKESIT
RTSRAPSVAT VGSICDLNLK IPEINSSDMS AHVTSPSGRV TEAEIVPMGK NSHCVRFVPQ
EMGVHTVSVK YRGQHVTGSP FQFTVGPLGE GGAHKVRAGG PGLERGEAGV PAEFSIWTRE
AGAGGLSIAV EGPSKAEITF DDHKNGSCGV SYIAQEPGNY EVSIKFNDEH IPESPYLVPV
IAPSDDARRL TVMSLQESGL KVNQPASFAI RLNGAKGKID AKVHSPSGAV EECHVSELEP
DKYAVRFIPH ENGVHTIDVK FNGSHVVGSP FKVRVGEPGQ AGNPALVSAY GTGLEGGTTG
IQSEFFINTT RAGPGTLSVT IEGPSKVKMD CQETPEGYKV MYTPMAPGNY LISVKYGGPN
HIVGSPFKAK VTGQRLVSPG SANETSSILV ESVTRSSTET CYSAIPKASS DASKVTSKGA
GLSKAFVGQK SSFLVDCSKA GSNMLLIGVH GPTTPCEEVS MKHVGNQQYN VTYVVKERGD
YVLAVKWGEE HIPGSPFHVT VP*
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