Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999999981526 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM000702)
  • known disease mutation at this position (HGMD CM090540)
  • known disease mutation: rs526 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:127674672C>AN/A show variant in all transcripts   IGV
HGNC symbol FBN2
Ensembl transcript ID ENST00000508989
Genbank transcript ID N/A
UniProt peptide P35556
alteration type single base exchange
alteration region CDS
DNA changes c.3326G>T
cDNA.3544G>T
g.320207G>T
AA changes C1109F Score: 205 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1109
frameshift no
known variant Reference ID: rs137852828
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs526 (pathogenic for Congenital contractural arachnodactyly) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM000702)

known disease mutation at this position, please check HGMD for details (HGMD ID CM000702)
known disease mutation at this position, please check HGMD for details (HGMD ID CM090540)

known disease mutation at this position, please check HGMD for details (HGMD ID CM000702)
known disease mutation at this position, please check HGMD for details (HGMD ID CM090540)
known disease mutation at this position, please check HGMD for details (HGMD ID CM000702)

known disease mutation at this position, please check HGMD for details (HGMD ID CM000702)
known disease mutation at this position, please check HGMD for details (HGMD ID CM090540)
known disease mutation at this position, please check HGMD for details (HGMD ID CM000702)
known disease mutation at this position, please check HGMD for details (HGMD ID CM090540)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9111
6.0331
(flanking)4.9831
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 increased320209wt: 0.8982 / mu: 0.9303 (marginal change - not scored)wt: AGTGCTTCGAAGGCT
mu: AGTTCTTCGAAGGCT		 TGCT|tcga
distance from splice site 48
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1109CVNTPGSFECECFEGYESGFMMMK
mutated  not conserved    1109CVNTPGSFECEFFEGYESGFMMM
Ptroglodytes  all identical  ENSPTRG00000017200  1223CTNSEGSYECSCSEGY-ALMPDG
Mmulatta  all identical  ENSMMUG00000010682  1142ECFEGYESGFMMM
Fcatus  all identical  ENSFCAG00000009685  1124CVNTPGSFECECFEGYESGFMMM
Mmusculus  all identical  ENSMUSG00000024598  1135ECFEGYESGFMMM
Ggallus  all identical  ENSGALG00000014686  1140CVNTPGSFECECFDGYESGFMMM
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0051999  560CINTNGHFRCESLLQCSPGYKST-VDG
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000032535  1039CINTPGSFECECFEGFESGFMMM
protein features
start (aa)end (aa)featuredetails 
10731114DOMAINEGF-like 15; calcium-binding.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4422 / 4422
position (AA) of stopcodon in wt / mu AA sequence 1474 / 1474
position of stopcodon in wt / mu cDNA 4640 / 4640
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 219 / 219
chromosome 5
strand -1
last intron/exon boundary 4465
theoretical NMD boundary in CDS 4196
length of CDS 4422
coding sequence (CDS) position 3326
cDNA position
(for ins/del: last normal base / first normal base)		 3544
gDNA position
(for ins/del: last normal base / first normal base)		 320207
chromosomal position
(for ins/del: last normal base / first normal base)		 127674672
original gDNA sequence snippet GGGCAGCTTTGAGTGCGAGTGCTTCGAAGGCTATGAAAGTG
altered gDNA sequence snippet GGGCAGCTTTGAGTGCGAGTTCTTCGAAGGCTATGAAAGTG
original cDNA sequence snippet GGGCAGCTTTGAGTGCGAGTGCTTCGAAGGCTATGAAAGTG
altered cDNA sequence snippet GGGCAGCTTTGAGTGCGAGTTCTTCGAAGGCTATGAAAGTG
wildtype AA sequence MGRRRRLCLQ LYFLWLGCVV LWAQGTAGQP QPPPPKPPRP QPPPQQVRSA TAGSEGGFLA
PEYREEGAAV ASRVRRRGQQ DVLRGPNVCG SRFHSYCCPG WKTLPGGNQC IVLQQCSVRC
MNGGTCADDH CQCQKGYIGT YCGQPVCENG CQNGGRCIGP NRCACVYGFT GPQCERDYRT
GPCFTQVNNQ MCQGQLTGIV CTKTLCCATI GRAWGHPCEM CPAQPQPCRR GFIPNIRTGA
CQDVDECQAI PGICQGGNCI NTVGSFECRC PAGHKQSETT QKCEDIDECS IIPGICETGE
CSNTVGSYFC VCPRGYVTST DGSRCIDQRT GMCFSGLVNG RCAQELPGRM TKMQCCCEPG
RCWGIGTIPE ACPVRGSEEY RRLCMDGLPM GGIPGSAGSR PGGTGGNGFA PSGNGNGYGP
GGTGFIPIPG GNGFSPGVGG AGVGAGGQGP IITGLTILNQ TIDICKHHAN LCLNGRCIPT
VSSYRCECNM GYKQDANGDC IDVDECTSNP CTNGDCVNTP GSYYCKCHAG FQRTPTKQAC
IDIDECIQNG VLCKNGRCVN TDGSFQCICN AGFELTTDGK NCVDHDECTT TNMCLNGMCI
NEDGSFKCIC KPGFVLAPNG RYCTDVDECQ TPGICMNGHC INSEGSFRCD CPPGLAVGMD
GRVCVDTHMR STCYGGIKKG VCVRPFPGAV TKSECCCANP DYGFGEPCQP CPAKNSAEFH
GLCSSGVGIT VDGRDINECA LDPDICANGI CENLRGSYRC NCNSGYEPDA SGRNCIDIDE
CLVNRLLCDN GLCRNTPGSY SCTCPPGYVF RTETETCEDI NECESNPCVN GACRNNLGSF
NCECSPGSKL SSTGLICIDS LKGTCWLNIQ DSRCEVNING ATLKSECCAT LGAAWGSPCE
RCELDTACPR GLARIKGVTC EDVNECEVFP GVCPNGRCVN SKGSFHCECP EGLTLDGTGR
VCLDIRMEQC YLKWDEDECI HPVPGKFRMD ACCCAVGAAW GTECEECPKP GTKEYETLCP
RGAGFANRGD VLTGRPFYKD INECKAFPGM CTYGKCRNTI GSFKCRCNSG FALDMEERNC
TDIDECRISP DLCGSGICVN TPGSFECECF EGYESGFMMM KNCMDIDECE RNPLLCRGGT
CVNTEGSFQC DCPLGHELSP SREDCVDINE CSLSDNLCRN GKCVNMIGTY QCSCNPGYQA
TPDRQGCTDI DECMIMNGGC DTQCTNSEGS YECSCSEGYA LMPDGRSCAD IDECENNPDI
CDGGQCTNIP GEYRCLCYDG FMASMDMKTC IDVNECDLNS NICMFGECEN TKGSFICHCQ
LGYSVKKGTT GCTDVDECEI GAHNCDMHAS CLNIPGSFKC SCREGWIGNG IKCIDLDECS
NGTHQCSINA QCVNTPGSYR CACSEGFTGD GFTCSDVDEC AENINLCENG QCLNVPGAYR
CECEMGFTPA SDSRSCQGGS PGFQLIFKLD QPQ*
mutated AA sequence MGRRRRLCLQ LYFLWLGCVV LWAQGTAGQP QPPPPKPPRP QPPPQQVRSA TAGSEGGFLA
PEYREEGAAV ASRVRRRGQQ DVLRGPNVCG SRFHSYCCPG WKTLPGGNQC IVLQQCSVRC
MNGGTCADDH CQCQKGYIGT YCGQPVCENG CQNGGRCIGP NRCACVYGFT GPQCERDYRT
GPCFTQVNNQ MCQGQLTGIV CTKTLCCATI GRAWGHPCEM CPAQPQPCRR GFIPNIRTGA
CQDVDECQAI PGICQGGNCI NTVGSFECRC PAGHKQSETT QKCEDIDECS IIPGICETGE
CSNTVGSYFC VCPRGYVTST DGSRCIDQRT GMCFSGLVNG RCAQELPGRM TKMQCCCEPG
RCWGIGTIPE ACPVRGSEEY RRLCMDGLPM GGIPGSAGSR PGGTGGNGFA PSGNGNGYGP
GGTGFIPIPG GNGFSPGVGG AGVGAGGQGP IITGLTILNQ TIDICKHHAN LCLNGRCIPT
VSSYRCECNM GYKQDANGDC IDVDECTSNP CTNGDCVNTP GSYYCKCHAG FQRTPTKQAC
IDIDECIQNG VLCKNGRCVN TDGSFQCICN AGFELTTDGK NCVDHDECTT TNMCLNGMCI
NEDGSFKCIC KPGFVLAPNG RYCTDVDECQ TPGICMNGHC INSEGSFRCD CPPGLAVGMD
GRVCVDTHMR STCYGGIKKG VCVRPFPGAV TKSECCCANP DYGFGEPCQP CPAKNSAEFH
GLCSSGVGIT VDGRDINECA LDPDICANGI CENLRGSYRC NCNSGYEPDA SGRNCIDIDE
CLVNRLLCDN GLCRNTPGSY SCTCPPGYVF RTETETCEDI NECESNPCVN GACRNNLGSF
NCECSPGSKL SSTGLICIDS LKGTCWLNIQ DSRCEVNING ATLKSECCAT LGAAWGSPCE
RCELDTACPR GLARIKGVTC EDVNECEVFP GVCPNGRCVN SKGSFHCECP EGLTLDGTGR
VCLDIRMEQC YLKWDEDECI HPVPGKFRMD ACCCAVGAAW GTECEECPKP GTKEYETLCP
RGAGFANRGD VLTGRPFYKD INECKAFPGM CTYGKCRNTI GSFKCRCNSG FALDMEERNC
TDIDECRISP DLCGSGICVN TPGSFECEFF EGYESGFMMM KNCMDIDECE RNPLLCRGGT
CVNTEGSFQC DCPLGHELSP SREDCVDINE CSLSDNLCRN GKCVNMIGTY QCSCNPGYQA
TPDRQGCTDI DECMIMNGGC DTQCTNSEGS YECSCSEGYA LMPDGRSCAD IDECENNPDI
CDGGQCTNIP GEYRCLCYDG FMASMDMKTC IDVNECDLNS NICMFGECEN TKGSFICHCQ
LGYSVKKGTT GCTDVDECEI GAHNCDMHAS CLNIPGSFKC SCREGWIGNG IKCIDLDECS
NGTHQCSINA QCVNTPGSYR CACSEGFTGD GFTCSDVDEC AENINLCENG QCLNVPGAYR
CECEMGFTPA SDSRSCQGGS PGFQLIFKLD QPQ*
speed 1.41 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