Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 4 transcript(s)...
Querying Taster for transcript #1: ENST00000508053
Querying Taster for transcript #2: ENST00000507835
Querying Taster for transcript #3: ENST00000508989
Querying Taster for transcript #4: ENST00000262464
MT speed 0 s - this script 5.699383 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FBN2disease_causing_automatic0.99999999981526simple_aae0C1109Fsingle base exchangers137852828show file
FBN2disease_causing_automatic0.999999999988643simple_aae0C1142Fsingle base exchangers137852828show file
FBN2disease_causing_automatic0.999999999988643simple_aae0C1142Fsingle base exchangers137852828show file
FBN2disease_causing_automatic1without_aae0single base exchangers137852828show file

Taster files

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 0.86 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999988643 (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 ENST00000508053
Genbank transcript ID N/A
UniProt peptide P35556
alteration type single base exchange
alteration region CDS
DNA changes c.3425G>T
cDNA.4400G>T
g.320207G>T
AA changes C1142F Score: 205 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1142
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      1142CVNTPGSFECECFEGYESGFMMMK
mutated  not conserved    1142EFFEGYESGFMMM
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 
11151157DOMAINEGF-like 16; calcium-binding.lost
11421142DISULFIDBy similarity.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 8739 / 8739
position (AA) of stopcodon in wt / mu AA sequence 2913 / 2913
position of stopcodon in wt / mu cDNA 9714 / 9714
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 976 / 976
chromosome 5
strand -1
last intron/exon boundary 9340
theoretical NMD boundary in CDS 8314
length of CDS 8739
coding sequence (CDS) position 3425
cDNA position
(for ins/del: last normal base / first normal base)		 4400
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 IVPICRNSCG
DGFCSRPNMC TCSSGQISST CGSKSIQQCS VRCMNGGTCA DDHCQCQKGY IGTYCGQPVC
ENGCQNGGRC IGPNRCACVY GFTGPQCERD YRTGPCFTQV NNQMCQGQLT GIVCTKTLCC
ATIGRAWGHP CEMCPAQPQP CRRGFIPNIR TGACQDVDEC QAIPGICQGG NCINTVGSFE
CRCPAGHKQS ETTQKCEDID ECSIIPGICE TGECSNTVGS YFCVCPRGYV TSTDGSRCID
QRTGMCFSGL VNGRCAQELP GRMTKMQCCC EPGRCWGIGT IPEACPVRGS EEYRRLCMDG
LPMGGIPGSA GSRPGGTGGN GFAPSGNGNG YGPGGTGFIP IPGGNGFSPG VGGAGVGAGG
QGPIITGLTI LNQTIDICKH HANLCLNGRC IPTVSSYRCE CNMGYKQDAN GDCIDVDECT
SNPCTNGDCV NTPGSYYCKC HAGFQRTPTK QACIDIDECI QNGVLCKNGR CVNTDGSFQC
ICNAGFELTT DGKNCVDHDE CTTTNMCLNG MCINEDGSFK CICKPGFVLA PNGRYCTDVD
ECQTPGICMN GHCINSEGSF RCDCPPGLAV GMDGRVCVDT HMRSTCYGGI KKGVCVRPFP
GAVTKSECCC ANPDYGFGEP CQPCPAKNSA EFHGLCSSGV GITVDGRDIN ECALDPDICA
NGICENLRGS YRCNCNSGYE PDASGRNCID IDECLVNRLL CDNGLCRNTP GSYSCTCPPG
YVFRTETETC EDINECESNP CVNGACRNNL GSFNCECSPG SKLSSTGLIC IDSLKGTCWL
NIQDSRCEVN INGATLKSEC CATLGAAWGS PCERCELDTA CPRGLARIKG VTCEDVNECE
VFPGVCPNGR CVNSKGSFHC ECPEGLTLDG TGRVCLDIRM EQCYLKWDED ECIHPVPGKF
RMDACCCAVG AAWGTECEEC PKPGTKEYET LCPRGAGFAN RGDVLTGRPF YKDINECKAF
PGMCTYGKCR NTIGSFKCRC NSGFALDMEE RNCTDIDECR ISPDLCGSGI CVNTPGSFEC
ECFEGYESGF MMMKNCMDID ECERNPLLCR GGTCVNTEGS FQCDCPLGHE LSPSREDCVD
INECSLSDNL CRNGKCVNMI GTYQCSCNPG YQATPDRQGC TDIDECMIMN GGCDTQCTNS
EGSYECSCSE GYALMPDGRS CADIDECENN PDICDGGQCT NIPGEYRCLC YDGFMASMDM
KTCIDVNECD LNSNICMFGE CENTKGSFIC HCQLGYSVKK GTTGCTDVDE CEIGAHNCDM
HASCLNIPGS FKCSCREGWI GNGIKCIDLD ECSNGTHQCS INAQCVNTPG SYRCACSEGF
TGDGFTCSDV DECAENINLC ENGQCLNVPG AYRCECEMGF TPASDSRSCQ DIDECSFQNI
CVFGTCNNLP GMFHCICDDG YELDRTGGNC TDIDECADPI NCVNGLCVNT PGRYECNCPP
DFQLNPTGVG CVDNRVGNCY LKFGPRGDGS LSCNTEIGVG VSRSSCCCSL GKAWGNPCET
CPPVNSTEYY TLCPGGEGFR PNPITIILED IDECQELPGL CQGGNCINTF GSFQCECPQG
YYLSEDTRIC EDIDECFAHP GVCGPGTCYN TLGNYTCICP PEYMQVNGGH NCMDMRKSFC
YRSYNGTTCE NELPFNVTKR MCCCTYNVGK AWNKPCEPCP TPGTADFKTI CGNIPGFTFD
IHTGKAVDID ECKEIPGICA NGVCINQIGS FRCECPTGFS YNDLLLVCED IDECSNGDNL
CQRNADCINS PGSYRCECAA GFKLSPNGAC VDRNECLEIP NVCSHGLCVD LQGSYQCICH
NGFKASQDQT MCMDVDECER HPCGNGTCKN TVGSYNCLCY PGFELTHNND CLDIDECSSF
FGQVCRNGRC FNEIGSFKCL CNEGYELTPD GKNCIDTNEC VALPGSCSPG TCQNLEGSFR
CICPPGYEVK SENCIDINEC DEDPNICLFG SCTNTPGGFQ CLCPPGFVLS DNGRRCFDTR
QSFCFTNFEN GKCSVPKAFN TTKAKCCCSK MPGEGWGDPC ELCPKDDEVA FQDLCPYGHG
TVPSLHDTRE DVNECLESPG ICSNGQCINT DGSFRCECPM GYNLDYTGVR CVDTDECSIG
NPCGNGTCTN VIGSFECNCN EGFEPGPMMN CEDINECAQN PLLCAFRCMN TFGSYECTCP
IGYALREDQK MCKDLDECAE GLHDCESRGM MCKNLIGTFM CICPPGMARR PDGEGCVDEN
ECRTKPGICE NGRCVNIIGS YRCECNEGFQ SSSSGTECLD NRQGLCFAEV LQTICQMASS
SRNLVTKSEC CCDGGRGWGH QCELCPLPGT AQYKKICPHG PGYTTDGRDI DECKVMPNLC
TNGQCINTMG SFRCFCKVGY TTDISGTSCI DLDECSQSPK PCNYICKNTE GSYQCSCPRG
YVLQEDGKTC KDLDECQTKQ HNCQFLCVNT LGGFTCKCPP GFTQHHTACI DNNECGSQPS
LCGAKGICQN TPGSFSCECQ RGFSLDATGL NCEDVDECDG NHRCQHGCQN ILGGYRCGCP
QGYIQHYQWN QCVDENECSN PNACGSASCY NTLGSYKCAC PSGFSFDQFS SACHDVNECS
SSKNPCNYGC SNTEGGYLCG CPPGYYRVGQ GHCVSGMGFN KGQYLSLDTE VDEENALSPE
ACYECKINGY SKKDSRQKRS IHEPDPTAVE QISLESVDMD SPVNMKFNLS HLGSKEHILE
LRPAIQPLNN HIRYVISQGN DDSVFRIHQR NGLSYLHTAK KKLMPGTYTL EITSIPLYKK
KELKKLEESN EDDYLLGELG EALRMRLQIQ LY*
mutated AA sequence MGRRRRLCLQ LYFLWLGCVV LWAQGTAGQP QPPPPKPPRP QPPPQQVRSA TAGSEGGFLA
PEYREEGAAV ASRVRRRGQQ DVLRGPNVCG SRFHSYCCPG WKTLPGGNQC IVPICRNSCG
DGFCSRPNMC TCSSGQISST CGSKSIQQCS VRCMNGGTCA DDHCQCQKGY IGTYCGQPVC
ENGCQNGGRC IGPNRCACVY GFTGPQCERD YRTGPCFTQV NNQMCQGQLT GIVCTKTLCC
ATIGRAWGHP CEMCPAQPQP CRRGFIPNIR TGACQDVDEC QAIPGICQGG NCINTVGSFE
CRCPAGHKQS ETTQKCEDID ECSIIPGICE TGECSNTVGS YFCVCPRGYV TSTDGSRCID
QRTGMCFSGL VNGRCAQELP GRMTKMQCCC EPGRCWGIGT IPEACPVRGS EEYRRLCMDG
LPMGGIPGSA GSRPGGTGGN GFAPSGNGNG YGPGGTGFIP IPGGNGFSPG VGGAGVGAGG
QGPIITGLTI LNQTIDICKH HANLCLNGRC IPTVSSYRCE CNMGYKQDAN GDCIDVDECT
SNPCTNGDCV NTPGSYYCKC HAGFQRTPTK QACIDIDECI QNGVLCKNGR CVNTDGSFQC
ICNAGFELTT DGKNCVDHDE CTTTNMCLNG MCINEDGSFK CICKPGFVLA PNGRYCTDVD
ECQTPGICMN GHCINSEGSF RCDCPPGLAV GMDGRVCVDT HMRSTCYGGI KKGVCVRPFP
GAVTKSECCC ANPDYGFGEP CQPCPAKNSA EFHGLCSSGV GITVDGRDIN ECALDPDICA
NGICENLRGS YRCNCNSGYE PDASGRNCID IDECLVNRLL CDNGLCRNTP GSYSCTCPPG
YVFRTETETC EDINECESNP CVNGACRNNL GSFNCECSPG SKLSSTGLIC IDSLKGTCWL
NIQDSRCEVN INGATLKSEC CATLGAAWGS PCERCELDTA CPRGLARIKG VTCEDVNECE
VFPGVCPNGR CVNSKGSFHC ECPEGLTLDG TGRVCLDIRM EQCYLKWDED ECIHPVPGKF
RMDACCCAVG AAWGTECEEC PKPGTKEYET LCPRGAGFAN RGDVLTGRPF YKDINECKAF
PGMCTYGKCR NTIGSFKCRC NSGFALDMEE RNCTDIDECR ISPDLCGSGI CVNTPGSFEC
EFFEGYESGF MMMKNCMDID ECERNPLLCR GGTCVNTEGS FQCDCPLGHE LSPSREDCVD
INECSLSDNL CRNGKCVNMI GTYQCSCNPG YQATPDRQGC TDIDECMIMN GGCDTQCTNS
EGSYECSCSE GYALMPDGRS CADIDECENN PDICDGGQCT NIPGEYRCLC YDGFMASMDM
KTCIDVNECD LNSNICMFGE CENTKGSFIC HCQLGYSVKK GTTGCTDVDE CEIGAHNCDM
HASCLNIPGS FKCSCREGWI GNGIKCIDLD ECSNGTHQCS INAQCVNTPG SYRCACSEGF
TGDGFTCSDV DECAENINLC ENGQCLNVPG AYRCECEMGF TPASDSRSCQ DIDECSFQNI
CVFGTCNNLP GMFHCICDDG YELDRTGGNC TDIDECADPI NCVNGLCVNT PGRYECNCPP
DFQLNPTGVG CVDNRVGNCY LKFGPRGDGS LSCNTEIGVG VSRSSCCCSL GKAWGNPCET
CPPVNSTEYY TLCPGGEGFR PNPITIILED IDECQELPGL CQGGNCINTF GSFQCECPQG
YYLSEDTRIC EDIDECFAHP GVCGPGTCYN TLGNYTCICP PEYMQVNGGH NCMDMRKSFC
YRSYNGTTCE NELPFNVTKR MCCCTYNVGK AWNKPCEPCP TPGTADFKTI CGNIPGFTFD
IHTGKAVDID ECKEIPGICA NGVCINQIGS FRCECPTGFS YNDLLLVCED IDECSNGDNL
CQRNADCINS PGSYRCECAA GFKLSPNGAC VDRNECLEIP NVCSHGLCVD LQGSYQCICH
NGFKASQDQT MCMDVDECER HPCGNGTCKN TVGSYNCLCY PGFELTHNND CLDIDECSSF
FGQVCRNGRC FNEIGSFKCL CNEGYELTPD GKNCIDTNEC VALPGSCSPG TCQNLEGSFR
CICPPGYEVK SENCIDINEC DEDPNICLFG SCTNTPGGFQ CLCPPGFVLS DNGRRCFDTR
QSFCFTNFEN GKCSVPKAFN TTKAKCCCSK MPGEGWGDPC ELCPKDDEVA FQDLCPYGHG
TVPSLHDTRE DVNECLESPG ICSNGQCINT DGSFRCECPM GYNLDYTGVR CVDTDECSIG
NPCGNGTCTN VIGSFECNCN EGFEPGPMMN CEDINECAQN PLLCAFRCMN TFGSYECTCP
IGYALREDQK MCKDLDECAE GLHDCESRGM MCKNLIGTFM CICPPGMARR PDGEGCVDEN
ECRTKPGICE NGRCVNIIGS YRCECNEGFQ SSSSGTECLD NRQGLCFAEV LQTICQMASS
SRNLVTKSEC CCDGGRGWGH QCELCPLPGT AQYKKICPHG PGYTTDGRDI DECKVMPNLC
TNGQCINTMG SFRCFCKVGY TTDISGTSCI DLDECSQSPK PCNYICKNTE GSYQCSCPRG
YVLQEDGKTC KDLDECQTKQ HNCQFLCVNT LGGFTCKCPP GFTQHHTACI DNNECGSQPS
LCGAKGICQN TPGSFSCECQ RGFSLDATGL NCEDVDECDG NHRCQHGCQN ILGGYRCGCP
QGYIQHYQWN QCVDENECSN PNACGSASCY NTLGSYKCAC PSGFSFDQFS SACHDVNECS
SSKNPCNYGC SNTEGGYLCG CPPGYYRVGQ GHCVSGMGFN KGQYLSLDTE VDEENALSPE
ACYECKINGY SKKDSRQKRS IHEPDPTAVE QISLESVDMD SPVNMKFNLS HLGSKEHILE
LRPAIQPLNN HIRYVISQGN DDSVFRIHQR NGLSYLHTAK KKLMPGTYTL EITSIPLYKK
KELKKLEESN EDDYLLGELG EALRMRLQIQ LY*
speed 1.42 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999988643 (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 ENST00000262464
Genbank transcript ID NM_001999
UniProt peptide P35556
alteration type single base exchange
alteration region CDS
DNA changes c.3425G>T
cDNA.3864G>T
g.320207G>T
AA changes C1142F Score: 205 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1142
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      1142CVNTPGSFECECFEGYESGFMMMK
mutated  not conserved    1142EFFEGYESGFMMM
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 
11151157DOMAINEGF-like 16; calcium-binding.lost
11421142DISULFIDBy similarity.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 8739 / 8739
position (AA) of stopcodon in wt / mu AA sequence 2913 / 2913
position of stopcodon in wt / mu cDNA 9178 / 9178
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 440 / 440
chromosome 5
strand -1
last intron/exon boundary 8804
theoretical NMD boundary in CDS 8314
length of CDS 8739
coding sequence (CDS) position 3425
cDNA position
(for ins/del: last normal base / first normal base)		 3864
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 IVPICRNSCG
DGFCSRPNMC TCSSGQISST CGSKSIQQCS VRCMNGGTCA DDHCQCQKGY IGTYCGQPVC
ENGCQNGGRC IGPNRCACVY GFTGPQCERD YRTGPCFTQV NNQMCQGQLT GIVCTKTLCC
ATIGRAWGHP CEMCPAQPQP CRRGFIPNIR TGACQDVDEC QAIPGICQGG NCINTVGSFE
CRCPAGHKQS ETTQKCEDID ECSIIPGICE TGECSNTVGS YFCVCPRGYV TSTDGSRCID
QRTGMCFSGL VNGRCAQELP GRMTKMQCCC EPGRCWGIGT IPEACPVRGS EEYRRLCMDG
LPMGGIPGSA GSRPGGTGGN GFAPSGNGNG YGPGGTGFIP IPGGNGFSPG VGGAGVGAGG
QGPIITGLTI LNQTIDICKH HANLCLNGRC IPTVSSYRCE CNMGYKQDAN GDCIDVDECT
SNPCTNGDCV NTPGSYYCKC HAGFQRTPTK QACIDIDECI QNGVLCKNGR CVNTDGSFQC
ICNAGFELTT DGKNCVDHDE CTTTNMCLNG MCINEDGSFK CICKPGFVLA PNGRYCTDVD
ECQTPGICMN GHCINSEGSF RCDCPPGLAV GMDGRVCVDT HMRSTCYGGI KKGVCVRPFP
GAVTKSECCC ANPDYGFGEP CQPCPAKNSA EFHGLCSSGV GITVDGRDIN ECALDPDICA
NGICENLRGS YRCNCNSGYE PDASGRNCID IDECLVNRLL CDNGLCRNTP GSYSCTCPPG
YVFRTETETC EDINECESNP CVNGACRNNL GSFNCECSPG SKLSSTGLIC IDSLKGTCWL
NIQDSRCEVN INGATLKSEC CATLGAAWGS PCERCELDTA CPRGLARIKG VTCEDVNECE
VFPGVCPNGR CVNSKGSFHC ECPEGLTLDG TGRVCLDIRM EQCYLKWDED ECIHPVPGKF
RMDACCCAVG AAWGTECEEC PKPGTKEYET LCPRGAGFAN RGDVLTGRPF YKDINECKAF
PGMCTYGKCR NTIGSFKCRC NSGFALDMEE RNCTDIDECR ISPDLCGSGI CVNTPGSFEC
ECFEGYESGF MMMKNCMDID ECERNPLLCR GGTCVNTEGS FQCDCPLGHE LSPSREDCVD
INECSLSDNL CRNGKCVNMI GTYQCSCNPG YQATPDRQGC TDIDECMIMN GGCDTQCTNS
EGSYECSCSE GYALMPDGRS CADIDECENN PDICDGGQCT NIPGEYRCLC YDGFMASMDM
KTCIDVNECD LNSNICMFGE CENTKGSFIC HCQLGYSVKK GTTGCTDVDE CEIGAHNCDM
HASCLNIPGS FKCSCREGWI GNGIKCIDLD ECSNGTHQCS INAQCVNTPG SYRCACSEGF
TGDGFTCSDV DECAENINLC ENGQCLNVPG AYRCECEMGF TPASDSRSCQ DIDECSFQNI
CVFGTCNNLP GMFHCICDDG YELDRTGGNC TDIDECADPI NCVNGLCVNT PGRYECNCPP
DFQLNPTGVG CVDNRVGNCY LKFGPRGDGS LSCNTEIGVG VSRSSCCCSL GKAWGNPCET
CPPVNSTEYY TLCPGGEGFR PNPITIILED IDECQELPGL CQGGNCINTF GSFQCECPQG
YYLSEDTRIC EDIDECFAHP GVCGPGTCYN TLGNYTCICP PEYMQVNGGH NCMDMRKSFC
YRSYNGTTCE NELPFNVTKR MCCCTYNVGK AWNKPCEPCP TPGTADFKTI CGNIPGFTFD
IHTGKAVDID ECKEIPGICA NGVCINQIGS FRCECPTGFS YNDLLLVCED IDECSNGDNL
CQRNADCINS PGSYRCECAA GFKLSPNGAC VDRNECLEIP NVCSHGLCVD LQGSYQCICH
NGFKASQDQT MCMDVDECER HPCGNGTCKN TVGSYNCLCY PGFELTHNND CLDIDECSSF
FGQVCRNGRC FNEIGSFKCL CNEGYELTPD GKNCIDTNEC VALPGSCSPG TCQNLEGSFR
CICPPGYEVK SENCIDINEC DEDPNICLFG SCTNTPGGFQ CLCPPGFVLS DNGRRCFDTR
QSFCFTNFEN GKCSVPKAFN TTKAKCCCSK MPGEGWGDPC ELCPKDDEVA FQDLCPYGHG
TVPSLHDTRE DVNECLESPG ICSNGQCINT DGSFRCECPM GYNLDYTGVR CVDTDECSIG
NPCGNGTCTN VIGSFECNCN EGFEPGPMMN CEDINECAQN PLLCAFRCMN TFGSYECTCP
IGYALREDQK MCKDLDECAE GLHDCESRGM MCKNLIGTFM CICPPGMARR PDGEGCVDEN
ECRTKPGICE NGRCVNIIGS YRCECNEGFQ SSSSGTECLD NRQGLCFAEV LQTICQMASS
SRNLVTKSEC CCDGGRGWGH QCELCPLPGT AQYKKICPHG PGYTTDGRDI DECKVMPNLC
TNGQCINTMG SFRCFCKVGY TTDISGTSCI DLDECSQSPK PCNYICKNTE GSYQCSCPRG
YVLQEDGKTC KDLDECQTKQ HNCQFLCVNT LGGFTCKCPP GFTQHHTACI DNNECGSQPS
LCGAKGICQN TPGSFSCECQ RGFSLDATGL NCEDVDECDG NHRCQHGCQN ILGGYRCGCP
QGYIQHYQWN QCVDENECSN PNACGSASCY NTLGSYKCAC PSGFSFDQFS SACHDVNECS
SSKNPCNYGC SNTEGGYLCG CPPGYYRVGQ GHCVSGMGFN KGQYLSLDTE VDEENALSPE
ACYECKINGY SKKDSRQKRS IHEPDPTAVE QISLESVDMD SPVNMKFNLS HLGSKEHILE
LRPAIQPLNN HIRYVISQGN DDSVFRIHQR NGLSYLHTAK KKLMPGTYTL EITSIPLYKK
KELKKLEESN EDDYLLGELG EALRMRLQIQ LY*
mutated AA sequence MGRRRRLCLQ LYFLWLGCVV LWAQGTAGQP QPPPPKPPRP QPPPQQVRSA TAGSEGGFLA
PEYREEGAAV ASRVRRRGQQ DVLRGPNVCG SRFHSYCCPG WKTLPGGNQC IVPICRNSCG
DGFCSRPNMC TCSSGQISST CGSKSIQQCS VRCMNGGTCA DDHCQCQKGY IGTYCGQPVC
ENGCQNGGRC IGPNRCACVY GFTGPQCERD YRTGPCFTQV NNQMCQGQLT GIVCTKTLCC
ATIGRAWGHP CEMCPAQPQP CRRGFIPNIR TGACQDVDEC QAIPGICQGG NCINTVGSFE
CRCPAGHKQS ETTQKCEDID ECSIIPGICE TGECSNTVGS YFCVCPRGYV TSTDGSRCID
QRTGMCFSGL VNGRCAQELP GRMTKMQCCC EPGRCWGIGT IPEACPVRGS EEYRRLCMDG
LPMGGIPGSA GSRPGGTGGN GFAPSGNGNG YGPGGTGFIP IPGGNGFSPG VGGAGVGAGG
QGPIITGLTI LNQTIDICKH HANLCLNGRC IPTVSSYRCE CNMGYKQDAN GDCIDVDECT
SNPCTNGDCV NTPGSYYCKC HAGFQRTPTK QACIDIDECI QNGVLCKNGR CVNTDGSFQC
ICNAGFELTT DGKNCVDHDE CTTTNMCLNG MCINEDGSFK CICKPGFVLA PNGRYCTDVD
ECQTPGICMN GHCINSEGSF RCDCPPGLAV GMDGRVCVDT HMRSTCYGGI KKGVCVRPFP
GAVTKSECCC ANPDYGFGEP CQPCPAKNSA EFHGLCSSGV GITVDGRDIN ECALDPDICA
NGICENLRGS YRCNCNSGYE PDASGRNCID IDECLVNRLL CDNGLCRNTP GSYSCTCPPG
YVFRTETETC EDINECESNP CVNGACRNNL GSFNCECSPG SKLSSTGLIC IDSLKGTCWL
NIQDSRCEVN INGATLKSEC CATLGAAWGS PCERCELDTA CPRGLARIKG VTCEDVNECE
VFPGVCPNGR CVNSKGSFHC ECPEGLTLDG TGRVCLDIRM EQCYLKWDED ECIHPVPGKF
RMDACCCAVG AAWGTECEEC PKPGTKEYET LCPRGAGFAN RGDVLTGRPF YKDINECKAF
PGMCTYGKCR NTIGSFKCRC NSGFALDMEE RNCTDIDECR ISPDLCGSGI CVNTPGSFEC
EFFEGYESGF MMMKNCMDID ECERNPLLCR GGTCVNTEGS FQCDCPLGHE LSPSREDCVD
INECSLSDNL CRNGKCVNMI GTYQCSCNPG YQATPDRQGC TDIDECMIMN GGCDTQCTNS
EGSYECSCSE GYALMPDGRS CADIDECENN PDICDGGQCT NIPGEYRCLC YDGFMASMDM
KTCIDVNECD LNSNICMFGE CENTKGSFIC HCQLGYSVKK GTTGCTDVDE CEIGAHNCDM
HASCLNIPGS FKCSCREGWI GNGIKCIDLD ECSNGTHQCS INAQCVNTPG SYRCACSEGF
TGDGFTCSDV DECAENINLC ENGQCLNVPG AYRCECEMGF TPASDSRSCQ DIDECSFQNI
CVFGTCNNLP GMFHCICDDG YELDRTGGNC TDIDECADPI NCVNGLCVNT PGRYECNCPP
DFQLNPTGVG CVDNRVGNCY LKFGPRGDGS LSCNTEIGVG VSRSSCCCSL GKAWGNPCET
CPPVNSTEYY TLCPGGEGFR PNPITIILED IDECQELPGL CQGGNCINTF GSFQCECPQG
YYLSEDTRIC EDIDECFAHP GVCGPGTCYN TLGNYTCICP PEYMQVNGGH NCMDMRKSFC
YRSYNGTTCE NELPFNVTKR MCCCTYNVGK AWNKPCEPCP TPGTADFKTI CGNIPGFTFD
IHTGKAVDID ECKEIPGICA NGVCINQIGS FRCECPTGFS YNDLLLVCED IDECSNGDNL
CQRNADCINS PGSYRCECAA GFKLSPNGAC VDRNECLEIP NVCSHGLCVD LQGSYQCICH
NGFKASQDQT MCMDVDECER HPCGNGTCKN TVGSYNCLCY PGFELTHNND CLDIDECSSF
FGQVCRNGRC FNEIGSFKCL CNEGYELTPD GKNCIDTNEC VALPGSCSPG TCQNLEGSFR
CICPPGYEVK SENCIDINEC DEDPNICLFG SCTNTPGGFQ CLCPPGFVLS DNGRRCFDTR
QSFCFTNFEN GKCSVPKAFN TTKAKCCCSK MPGEGWGDPC ELCPKDDEVA FQDLCPYGHG
TVPSLHDTRE DVNECLESPG ICSNGQCINT DGSFRCECPM GYNLDYTGVR CVDTDECSIG
NPCGNGTCTN VIGSFECNCN EGFEPGPMMN CEDINECAQN PLLCAFRCMN TFGSYECTCP
IGYALREDQK MCKDLDECAE GLHDCESRGM MCKNLIGTFM CICPPGMARR PDGEGCVDEN
ECRTKPGICE NGRCVNIIGS YRCECNEGFQ SSSSGTECLD NRQGLCFAEV LQTICQMASS
SRNLVTKSEC CCDGGRGWGH QCELCPLPGT AQYKKICPHG PGYTTDGRDI DECKVMPNLC
TNGQCINTMG SFRCFCKVGY TTDISGTSCI DLDECSQSPK PCNYICKNTE GSYQCSCPRG
YVLQEDGKTC KDLDECQTKQ HNCQFLCVNT LGGFTCKCPP GFTQHHTACI DNNECGSQPS
LCGAKGICQN TPGSFSCECQ RGFSLDATGL NCEDVDECDG NHRCQHGCQN ILGGYRCGCP
QGYIQHYQWN QCVDENECSN PNACGSASCY NTLGSYKCAC PSGFSFDQFS SACHDVNECS
SSKNPCNYGC SNTEGGYLCG CPPGYYRVGQ GHCVSGMGFN KGQYLSLDTE VDEENALSPE
ACYECKINGY SKKDSRQKRS IHEPDPTAVE QISLESVDMD SPVNMKFNLS HLGSKEHILE
LRPAIQPLNN HIRYVISQGN DDSVFRIHQR NGLSYLHTAK KKLMPGTYTL EITSIPLYKK
KELKKLEESN EDDYLLGELG EALRMRLQIQ LY*
speed 1.38 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM000702)
  • known disease mutation at this position (HGMD CM090540)
  • known disease mutation: rs526 (pathogenic)
 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 ENST00000507835
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.212G>T
g.320207G>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
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? no
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 238 / 238
chromosome 5
strand -1
last intron/exon boundary 1133
theoretical NMD boundary in CDS 845
length of CDS 1071
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 212
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 MMMKNCMDID ECERNPLLCR GGTCVNTEGS FQCDCPLGHE LSPSREDCVD INECSLSDNL
CRNGKCVNMI GTYQCSCNPG YQATPDRQGC TDIDECMIMN GGCDTQCTNS EGSYECSCSE
GYALMPDGRS CADIDECENN PDICDGGQCT NIPGEYRCLC YDGFMASMDM KTCIDVNECD
LNSNICMFGE CENTKGSFIC HCQLGYSVKK GTTGCTDVDE CEIGAHNCDM HASCLNIPGS
FKCSCREGWI GNGIKCIDLD ECSNGTHQCS INAQCVNTPG SYRCACSEGF TGDGFTCSDV
DECAENINLC ENGQCLNVPG AYRCECEMGF TPASDSRSCQ GGSPGFQLIF KLDQPQ*
mutated AA sequence N/A
speed 1.22 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
back to results table

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