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 5.082009 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FBN2disease_causing_automatic0.999999998299896simple_aae0C103Wsingle base exchangers28931602show file
FBN2disease_causing_automatic0.99999999897621simple_aae0C1220Wsingle base exchangers28931602show file
FBN2disease_causing_automatic0.999999999937062simple_aae0C1253Wsingle base exchangers28931602show file
FBN2disease_causing_automatic0.999999999937062simple_aae0C1253Wsingle base exchangers28931602show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999998299896 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM000703)
  • known disease mutation: rs527 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:127671235A>CN/A show variant in all transcripts   IGV
HGNC symbol FBN2
Ensembl transcript ID ENST00000507835
Genbank transcript ID N/A
UniProt peptide P35556
alteration type single base exchange
alteration region CDS
DNA changes c.309T>G
cDNA.546T>G
g.323644T>G
AA changes C103W Score: 215 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 103
frameshift no
known variant Reference ID: rs28931602
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs527 (pathogenic for Congenital contractural arachnodactyly) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM000703)

known disease mutation at this position, please check HGMD for details (HGMD ID CM000703)
known disease mutation at this position, please check HGMD for details (HGMD ID CM000703)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.1081
-0.0150.985
(flanking)6.1081
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 35
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      103DIDECMIMNGGCDTQCTNSEGSYE
mutated  not conserved    103DIDECMIMNGGWDTQCTNSEGSY
Ptroglodytes  all identical  ENSPTRG00000017200  1207DIDECMIMNGGCDTQCTNSEGSY
Mmulatta  all identical  ENSMMUG00000010682  1253DIDECMIMNGGCDTQCTNSEGSY
Fcatus  all identical  ENSFCAG00000009685  1235DIDECMIMNGGCDTRCTNSEGSY
Mmusculus  all identical  ENSMUSG00000024598  1246DIDECMIMNGGCDTQCTNSEGSY
Ggallus  all identical  ENSGALG00000014686  1251DIDECMIMNGGCDTHCTNSEGSY
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0051999  427DDDECTLSTHNCPSNYDCHNTRGSF
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000032535  1150DIDECTIMNGGCDTHCTNSEGSY
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1071 / 1071
position (AA) of stopcodon in wt / mu AA sequence 357 / 357
position of stopcodon in wt / mu cDNA 1308 / 1308
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 309
cDNA position
(for ins/del: last normal base / first normal base)		 546
gDNA position
(for ins/del: last normal base / first normal base)		 323644
chromosomal position
(for ins/del: last normal base / first normal base)		 127671235
original gDNA sequence snippet ATGATAATGAACGGAGGCTGTGACACCCAGTGCACAAATTC
altered gDNA sequence snippet ATGATAATGAACGGAGGCTGGGACACCCAGTGCACAAATTC
original cDNA sequence snippet ATGATAATGAACGGAGGCTGTGACACCCAGTGCACAAATTC
altered cDNA sequence snippet ATGATAATGAACGGAGGCTGGGACACCCAGTGCACAAATTC
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 MMMKNCMDID ECERNPLLCR GGTCVNTEGS FQCDCPLGHE LSPSREDCVD INECSLSDNL
CRNGKCVNMI GTYQCSCNPG YQATPDRQGC TDIDECMIMN GGWDTQCTNS 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*
speed 1.12 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: 0.99999999897621 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM000703)
  • known disease mutation: rs527 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:127671235A>CN/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.3660T>G
cDNA.3878T>G
g.323644T>G
AA changes C1220W Score: 215 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1220
frameshift no
known variant Reference ID: rs28931602
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs527 (pathogenic for Congenital contractural arachnodactyly) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM000703)

known disease mutation at this position, please check HGMD for details (HGMD ID CM000703)
known disease mutation at this position, please check HGMD for details (HGMD ID CM000703)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.1081
-0.0150.985
(flanking)6.1081
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 35
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1220DIDECMIMNGGCDTQCTNSEGSYE
mutated  not conserved    1220DIDECMIMNGGWDTQCTNSEGSY
Ptroglodytes  all identical  ENSPTRG00000017200  1332DVDECEIGAHNCDMHASCLNIPGSF
Mmulatta  all identical  ENSMMUG00000010682  1253DIDECMIMNGGCDTQCTNS
Fcatus  all identical  ENSFCAG00000009685  1235DIDECMIMNGGCDTRCTNSEGSY
Mmusculus  all identical  ENSMUSG00000024598  1246DIDECMIMNGGCDTQCTNS
Ggallus  all identical  ENSGALG00000014686  1251ECMIMNGGCDTHCTNSEGSY
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0051999  664DIDECQVIPGLCQQKCLNFWGGY
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000032535  1150DIDECTIMNGGCDTHCTNSEGSY
protein features
start (aa)end (aa)featuredetails 
12001241DOMAINEGF-like 18; 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 3660
cDNA position
(for ins/del: last normal base / first normal base)		 3878
gDNA position
(for ins/del: last normal base / first normal base)		 323644
chromosomal position
(for ins/del: last normal base / first normal base)		 127671235
original gDNA sequence snippet ATGATAATGAACGGAGGCTGTGACACCCAGTGCACAAATTC
altered gDNA sequence snippet ATGATAATGAACGGAGGCTGGGACACCCAGTGCACAAATTC
original cDNA sequence snippet ATGATAATGAACGGAGGCTGTGACACCCAGTGCACAAATTC
altered cDNA sequence snippet ATGATAATGAACGGAGGCTGGGACACCCAGTGCACAAATTC
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 TPGSFECECF EGYESGFMMM KNCMDIDECE RNPLLCRGGT
CVNTEGSFQC DCPLGHELSP SREDCVDINE CSLSDNLCRN GKCVNMIGTY QCSCNPGYQA
TPDRQGCTDI DECMIMNGGW 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 0.68 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: 0.999999999937062 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM000703)
  • known disease mutation: rs527 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:127671235A>CN/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.3759T>G
cDNA.4734T>G
g.323644T>G
AA changes C1253W Score: 215 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1253
frameshift no
known variant Reference ID: rs28931602
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs527 (pathogenic for Congenital contractural arachnodactyly) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM000703)

known disease mutation at this position, please check HGMD for details (HGMD ID CM000703)
known disease mutation at this position, please check HGMD for details (HGMD ID CM000703)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.1081
-0.0150.985
(flanking)6.1081
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 35
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1253DIDECMIMNGGCDTQCTNSEGSYE
mutated  not conserved    1253DIDECMIMNGGWDTQCTNS
Ptroglodytes  all identical  ENSPTRG00000017200  1332DVDECEIGAHNCDMHASCLNIPGSF
Mmulatta  all identical  ENSMMUG00000010682  1253DIDECMIMNGGCDTQCTNS
Fcatus  all identical  ENSFCAG00000009685  1235DIDECMIMNGGCDTRCTNSEGSY
Mmusculus  all identical  ENSMUSG00000024598  1246DIDECMIMNGGCDTQCTNS
Ggallus  all identical  ENSGALG00000014686  1251ECMIMNGGCDTHCTNSEGSY
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0051999  664DIDECQVIPGLCQQKCLNFWGGY
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000032535  1150DIDECTIMNGGCDTHCTNSEGSY
protein features
start (aa)end (aa)featuredetails 
12421282DOMAINEGF-like 19; calcium-binding.lost
12531253DISULFIDBy 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 3759
cDNA position
(for ins/del: last normal base / first normal base)		 4734
gDNA position
(for ins/del: last normal base / first normal base)		 323644
chromosomal position
(for ins/del: last normal base / first normal base)		 127671235
original gDNA sequence snippet ATGATAATGAACGGAGGCTGTGACACCCAGTGCACAAATTC
altered gDNA sequence snippet ATGATAATGAACGGAGGCTGGGACACCCAGTGCACAAATTC
original cDNA sequence snippet ATGATAATGAACGGAGGCTGTGACACCCAGTGCACAAATTC
altered cDNA sequence snippet ATGATAATGAACGGAGGCTGGGACACCCAGTGCACAAATTC
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
ECFEGYESGF MMMKNCMDID ECERNPLLCR GGTCVNTEGS FQCDCPLGHE LSPSREDCVD
INECSLSDNL CRNGKCVNMI GTYQCSCNPG YQATPDRQGC TDIDECMIMN GGWDTQCTNS
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 1.26 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
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999937062 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM000703)
  • known disease mutation: rs527 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:127671235A>CN/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.3759T>G
cDNA.4198T>G
g.323644T>G
AA changes C1253W Score: 215 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1253
frameshift no
known variant Reference ID: rs28931602
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs527 (pathogenic for Congenital contractural arachnodactyly) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM000703)

known disease mutation at this position, please check HGMD for details (HGMD ID CM000703)
known disease mutation at this position, please check HGMD for details (HGMD ID CM000703)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.1081
-0.0150.985
(flanking)6.1081
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 35
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1253DIDECMIMNGGCDTQCTNSEGSYE
mutated  not conserved    1253DIDECMIMNGGWDTQCTNS
Ptroglodytes  all identical  ENSPTRG00000017200  1332DVDECEIGAHNCDMHASCLNIPGSF
Mmulatta  all identical  ENSMMUG00000010682  1253DIDECMIMNGGCDTQCTNS
Fcatus  all identical  ENSFCAG00000009685  1235DIDECMIMNGGCDTRCTNSEGSY
Mmusculus  all identical  ENSMUSG00000024598  1246DIDECMIMNGGCDTQCTNS
Ggallus  all identical  ENSGALG00000014686  1251ECMIMNGGCDTHCTNSEGSY
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0051999  664DIDECQVIPGLCQQKCLNFWGGY
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000032535  1150DIDECTIMNGGCDTHCTNSEGSY
protein features
start (aa)end (aa)featuredetails 
12421282DOMAINEGF-like 19; calcium-binding.lost
12531253DISULFIDBy 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 3759
cDNA position
(for ins/del: last normal base / first normal base)		 4198
gDNA position
(for ins/del: last normal base / first normal base)		 323644
chromosomal position
(for ins/del: last normal base / first normal base)		 127671235
original gDNA sequence snippet ATGATAATGAACGGAGGCTGTGACACCCAGTGCACAAATTC
altered gDNA sequence snippet ATGATAATGAACGGAGGCTGGGACACCCAGTGCACAAATTC
original cDNA sequence snippet ATGATAATGAACGGAGGCTGTGACACCCAGTGCACAAATTC
altered cDNA sequence snippet ATGATAATGAACGGAGGCTGGGACACCCAGTGCACAAATTC
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
ECFEGYESGF MMMKNCMDID ECERNPLLCR GGTCVNTEGS FQCDCPLGHE LSPSREDCVD
INECSLSDNL CRNGKCVNMI GTYQCSCNPG YQATPDRQGC TDIDECMIMN GGWDTQCTNS
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 1.10 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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