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 2 transcript(s)...
Querying Taster for transcript #1: ENST00000325239
Querying Taster for transcript #2: ENST00000413659
MT speed 0 s - this script 3.313788 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
WDFY4polymorphism_automatic0.030248180161168simple_aaeaffectedS1528Psingle base exchangers2170132show file
WDFY4polymorphism_automatic0.999999997187454without_aaeaffectedsingle base exchangers2170132show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.969751819838832 (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
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:50013402T>CN/A show variant in all transcripts   IGV
HGNC symbol WDFY4
Ensembl transcript ID ENST00000325239
Genbank transcript ID NM_020945
UniProt peptide Q6ZS81
alteration type single base exchange
alteration region CDS
DNA changes c.4582T>C
cDNA.4609T>C
g.120482T>C
AA changes S1528P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1528
frameshift no
known variant Reference ID: rs2170132
databasehomozygous (C/C)heterozygousallele carriers
1000G9519871938
ExAC219749847181
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3880.997
0.2550.997
(flanking)2.0291
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased120477wt: 0.9264 / mu: 0.9507 (marginal change - not scored)wt: GCCGAGCCTCATCCCCTCCAAGATCTCCACCATCATTGGCA
mu: GCCGAGCCTCATCCCCTCCAAGATCCCCACCATCATTGGCA		 ccaa|GATC
Acc increased120476wt: 0.38 / mu: 0.53wt: AGCCGAGCCTCATCCCCTCCAAGATCTCCACCATCATTGGC
mu: AGCCGAGCCTCATCCCCTCCAAGATCCCCACCATCATTGGC		 tcca|AGAT
distance from splice site 65
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1528FNEPSLIPSKISTIIGILACQLRG
mutated  not conserved    1528FNEPSLIPSKIPTIIGILACQLR
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000013836  n/a
Fcatus  not conserved  ENSFCAG00000007384  239FNEPGLTFSKIPTIIAILGCQLR
Mmusculus  all identical  ENSMUSG00000051506  1487FNEPSLALSKVSTIIAILGCQLK
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000013264  n/a
Drerio  all identical  ENSDARG00000077009  1548LHDPNVTCRKVSVI
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
16271647TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
20482068TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
25272821DOMAINBEACH.might get lost (downstream of altered splice site)
25952595CONFLICTD -> G (in Ref. 3; AAH47574).might get lost (downstream of altered splice site)
26832683CONFLICTE -> K (in Ref. 3; AAH47574).might get lost (downstream of altered splice site)
29302970REPEATWD 1.might get lost (downstream of altered splice site)
29803019REPEATWD 2.might get lost (downstream of altered splice site)
30223061REPEATWD 3.might get lost (downstream of altered splice site)
30713109REPEATWD 4.might get lost (downstream of altered splice site)
31183118CONFLICTP -> L (in Ref. 3; AAH47574 and 5; BAB13433).might get lost (downstream of altered splice site)
31513184REPEATWD 5.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 9555 / 9555
position (AA) of stopcodon in wt / mu AA sequence 3185 / 3185
position of stopcodon in wt / mu cDNA 9582 / 9582
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 28 / 28
chromosome 10
strand 1
last intron/exon boundary 9516
theoretical NMD boundary in CDS 9438
length of CDS 9555
coding sequence (CDS) position 4582
cDNA position
(for ins/del: last normal base / first normal base)		 4609
gDNA position
(for ins/del: last normal base / first normal base)		 120482
chromosomal position
(for ins/del: last normal base / first normal base)		 50013402
original gDNA sequence snippet GCCTCATCCCCTCCAAGATCTCCACCATCATTGGCATCCTG
altered gDNA sequence snippet GCCTCATCCCCTCCAAGATCCCCACCATCATTGGCATCCTG
original cDNA sequence snippet GCCTCATCCCCTCCAAGATCTCCACCATCATTGGCATCCTG
altered cDNA sequence snippet GCCTCATCCCCTCCAAGATCCCCACCATCATTGGCATCCTG
wildtype AA sequence MEAEDLSKAE DRNEDPGSKN EGQLAAVQPD VPHGGQSSSP TALWDMLERK FLEYQQLTHK
SPIERQKSLL SLLPLFLKAW EHSVGIICFP SLQRLAEDVS DQLAQQLQKA LVGKPAEQAR
LAAGQLLWWK GDVDQDGYLL LKSVYVLTGT DSETLGRVAE SGLPALLLQC LYLFFVFPLD
KDELLESDLQ VQKMFVQMLL NICSDSQGLE GLLSGSELQS LLIATTCLRE HSCCFWKEPT
FCVLRAISKA QNLSIIQYLQ ATDCVRLSLQ NLSRLTDTLP APEVSEAVSL ILGFVKDSYP
VSSALFLEFE NSEGYPLLLK VLLRYDGLTQ SEVDPHLEEL LGLVVWLTTC GRSELKVFDS
ITYPQLEGFK FHHEASGVTV KNLQAFQVLQ NVFHKASDSV LCIQVLSVIR TMWAWNARNF
FLLEWTLQPI SQFVEIMPLK PAPVQEHFFQ LLEALVFELH YVPHEILRKV QHLIKESPGP
SCTLMALQSI LSIAGGDPLF TDIFRDSGLL GLLLAQLRKQ AKIMRKSGNK VSTPGVQDPE
RELTCVMLRI VVTLLKGSVR NAVVLKDHGM VPFIKIFLDD ECYREASLSI LEQLSAINAE
EYMSIIVGAL CSSTQGELQL KLDLLKSLLR ILVTPKGRAA FRVSSGFNGL LSLLSDLEGS
LQEPPLQAWG AVSPRQTLEL VLYTLCAVSA ALHWDPVNGY FFRRNGLFEK LAEDLCLLGC
FGALEEEGNL LRSWVDTKAR PFADLLGTAF SSSGSLPPRI QSCLQILGFL DSMASGTLHL
RGDLKESLRT KQGPVVDVQK GETGSDPQRN FKQWPDLEER MDEGDAAIMH PGVVCIMVRL
LPRLYHEDHP QLSEEIQCSL ASHIQSLVKS EKNRQVMCEA GLLGTLMASC HRALVTSGSP
LHSRLIRIFE KLASQAIEPD VLRQFLGLGI PSSLSATTKI LDSSHTHRGN PGCSGSQTAQ
GLAEGPWPAA PDAGLHPGVT QAPQPLGESQ DSTTALQTAL SLISMTSPRN LQPQRAALAP
SFVEFDMSVE GYGCLFIPTL STVMGTSTEY SVSGGIGTGA TRPFPPPGGL TFSCWFLISR
HGAATEGHPL RFLTLVRHLA RTEQPFVCFS VSLCPDDLSL VVSTEEKEFQ PLDVMEPEDD
SEPSAGCQLQ VRCGQLLACG QWHHLAVVVT KEMKRHCTVS TCLDGQVIGS AKMLYIQALP
GPFLSMDPSA FVDVYGYIAT PRVWKQKSSL IWRLGPTYLF EEAISMETLE VINKLGPRYC
GNFQAVHVQG EDLDSEATPF VAEERVSFGL HIASSSITSV ADIRNAYNEV DSRLIAKEMN
ISSRDNAMPV FLLRNCAGHL SGSLRTIGAV AVGQLGVRVF HSSPAASSLD FIGGPAILLG
LISLATDDHT MYAAVKVLHS VLTSNAMCDF LMQHICGYQI MAFLLRKKAS LLNHRIFQLI
LSVAGTVELG FRSSAITNTG VFQHILCNFE LWMNTADNLE LSLFSHLLEI LQSPREGPRN
AEAAHQAQLI PKLIFLFNEP SLIPSKISTI IGILACQLRG HFSTQDLLRI GLFVVYTLKP
SSVNERQICM DGALDPSLPA GSQTSGKTIW LRNQLLEMLL SVISSPQLHL SSESKEEMFL
KLGPDWFLLL LQGHLHASTT VLALKLLLYF LASPSLRTRF RDGLCAGSWV ERSTEGVDIV
MDNLKSQSPL PEQSPCLLPG FRVLNDFLAH HVHIPEVYLI VSTFFLQTPL TELMDGPKDS
LDAMLQWLLQ RHHQEEVLQA GLCTEGALLL LEMLKATMSQ PLAGSEDGAW AQTFPASVLQ
FLSLVHRTYP QDPAWRAPEF LQTLAIAAFP LGAQKGVGAE STRNTSSPEA AAEGDSTVEG
LQAPTKAHPA RRKLREFTQL LLRELLLGAS SPKQWLPLEV LLEASPDHAT SQQKRDFQSE
VLLSAMELFH MTSGGDAAMF RDGKEPQPSA EAAAAPSLAN ISCFTQKLVE KLYSGMFSAD
PRHILLFILE HIMVVIETAS SQRDTVLSTL YSSLNKVILY CLSKPQQSLS ECLGLLSILG
FLQEHWDVVF ATYNSNISFL LCLMHCLLLL NERSYPEGFG LEPKPRMSTY HQVFLSPNED
VKEKREDLPS LSDVQHNIQK TVQTLWQQLV AQRQQTLEDA FKIDLSVKPG EREVKIEEVT
PLWEETMLKA WQHYLASEKK SLASRSNVAH HSKVTLWSGS LSSAMKLMPG RQAKDPECKT
EDFVSCIENY RRRGQELYAS LYKDHVQRRK CGNIKAANAW ARIQEQLFGE LGLWSQGEET
KPCSPWELDW REGPARMRKR IKRLSPLEAL SSGRHKESQD KNDHISQTNA ENQDELTLRE
AEGEPDEVGV DCTQLTFFPA LHESLHSEDF LELCRERQVI LQELLDKEKV TQKFSLVIVQ
GHLVSEGVLL FGHQHFYICE NFTLSPTGDV YCTRHCLSNI SDPFIFNLCS KDRSTDHYSC
QCHSYADMRE LRQARFLLQD IALEIFFHNG YSKFLVFYNN DRSKAFKSFC SFQPSLKGKA
TSEDTLSLRR YPGSDRIMLQ KWQKRDISNF EYLMYLNTAA GRTCNDYMQY PVFPWVLADY
TSETLNLANP KIFRDLSKPM GAQTKERKLK FIQRFKEVEK TEGDMTVQCH YYTHYSSAII
VASYLVRMPP FTQAFCALQG GSFDVADRMF HSVKSTWESA SRENMSDVRE LTPEFFYLPE
FLTNCNGVEF GCMQDGTVLG DVQLPPWADG DPRKFISLHR KALESDFVSA NLHHWIDLIF
GYKQQGPAAV DAVNIFHPYF YGDRMDLSSI TDPLIKSTIL GFVSNFGQVP KQLFTKPHPA
RTAAGKPLPG KDVSTPVSLP GHPQPFFYSL QSLRPSQVTV KDMYLFSLGS ESPKGAIGHI
VSTEKTILAV ERNKVLLPPL WNRTFSWGFD DFSCCLGSYG SDKVLMTFEN LAAWGRCLCA
VCPSPTTIVT SGTSTVVCVW ELSMTKGRPR GLRLRQALYG HTQAVTCLAA SVTFSLLVSG
SQDCTCILWD LDHLTHVTRL PAHREGISAI TISDVSGTIV SCAGAHLSLW NVNGQPLASI
TTAWGPEGAI TCCCLMEGPA WDTSQIIITG SQDGMVRVWK TEDVKMSVPG RPAGEEPPAQ
PPSPRGHKWE KNLALSRELD VSIALTGKPS KTSPAVTALA VSRNHTKLLV GDERGRIFCW
SADG*
mutated AA sequence MEAEDLSKAE DRNEDPGSKN EGQLAAVQPD VPHGGQSSSP TALWDMLERK FLEYQQLTHK
SPIERQKSLL SLLPLFLKAW EHSVGIICFP SLQRLAEDVS DQLAQQLQKA LVGKPAEQAR
LAAGQLLWWK GDVDQDGYLL LKSVYVLTGT DSETLGRVAE SGLPALLLQC LYLFFVFPLD
KDELLESDLQ VQKMFVQMLL NICSDSQGLE GLLSGSELQS LLIATTCLRE HSCCFWKEPT
FCVLRAISKA QNLSIIQYLQ ATDCVRLSLQ NLSRLTDTLP APEVSEAVSL ILGFVKDSYP
VSSALFLEFE NSEGYPLLLK VLLRYDGLTQ SEVDPHLEEL LGLVVWLTTC GRSELKVFDS
ITYPQLEGFK FHHEASGVTV KNLQAFQVLQ NVFHKASDSV LCIQVLSVIR TMWAWNARNF
FLLEWTLQPI SQFVEIMPLK PAPVQEHFFQ LLEALVFELH YVPHEILRKV QHLIKESPGP
SCTLMALQSI LSIAGGDPLF TDIFRDSGLL GLLLAQLRKQ AKIMRKSGNK VSTPGVQDPE
RELTCVMLRI VVTLLKGSVR NAVVLKDHGM VPFIKIFLDD ECYREASLSI LEQLSAINAE
EYMSIIVGAL CSSTQGELQL KLDLLKSLLR ILVTPKGRAA FRVSSGFNGL LSLLSDLEGS
LQEPPLQAWG AVSPRQTLEL VLYTLCAVSA ALHWDPVNGY FFRRNGLFEK LAEDLCLLGC
FGALEEEGNL LRSWVDTKAR PFADLLGTAF SSSGSLPPRI QSCLQILGFL DSMASGTLHL
RGDLKESLRT KQGPVVDVQK GETGSDPQRN FKQWPDLEER MDEGDAAIMH PGVVCIMVRL
LPRLYHEDHP QLSEEIQCSL ASHIQSLVKS EKNRQVMCEA GLLGTLMASC HRALVTSGSP
LHSRLIRIFE KLASQAIEPD VLRQFLGLGI PSSLSATTKI LDSSHTHRGN PGCSGSQTAQ
GLAEGPWPAA PDAGLHPGVT QAPQPLGESQ DSTTALQTAL SLISMTSPRN LQPQRAALAP
SFVEFDMSVE GYGCLFIPTL STVMGTSTEY SVSGGIGTGA TRPFPPPGGL TFSCWFLISR
HGAATEGHPL RFLTLVRHLA RTEQPFVCFS VSLCPDDLSL VVSTEEKEFQ PLDVMEPEDD
SEPSAGCQLQ VRCGQLLACG QWHHLAVVVT KEMKRHCTVS TCLDGQVIGS AKMLYIQALP
GPFLSMDPSA FVDVYGYIAT PRVWKQKSSL IWRLGPTYLF EEAISMETLE VINKLGPRYC
GNFQAVHVQG EDLDSEATPF VAEERVSFGL HIASSSITSV ADIRNAYNEV DSRLIAKEMN
ISSRDNAMPV FLLRNCAGHL SGSLRTIGAV AVGQLGVRVF HSSPAASSLD FIGGPAILLG
LISLATDDHT MYAAVKVLHS VLTSNAMCDF LMQHICGYQI MAFLLRKKAS LLNHRIFQLI
LSVAGTVELG FRSSAITNTG VFQHILCNFE LWMNTADNLE LSLFSHLLEI LQSPREGPRN
AEAAHQAQLI PKLIFLFNEP SLIPSKIPTI IGILACQLRG HFSTQDLLRI GLFVVYTLKP
SSVNERQICM DGALDPSLPA GSQTSGKTIW LRNQLLEMLL SVISSPQLHL SSESKEEMFL
KLGPDWFLLL LQGHLHASTT VLALKLLLYF LASPSLRTRF RDGLCAGSWV ERSTEGVDIV
MDNLKSQSPL PEQSPCLLPG FRVLNDFLAH HVHIPEVYLI VSTFFLQTPL TELMDGPKDS
LDAMLQWLLQ RHHQEEVLQA GLCTEGALLL LEMLKATMSQ PLAGSEDGAW AQTFPASVLQ
FLSLVHRTYP QDPAWRAPEF LQTLAIAAFP LGAQKGVGAE STRNTSSPEA AAEGDSTVEG
LQAPTKAHPA RRKLREFTQL LLRELLLGAS SPKQWLPLEV LLEASPDHAT SQQKRDFQSE
VLLSAMELFH MTSGGDAAMF RDGKEPQPSA EAAAAPSLAN ISCFTQKLVE KLYSGMFSAD
PRHILLFILE HIMVVIETAS SQRDTVLSTL YSSLNKVILY CLSKPQQSLS ECLGLLSILG
FLQEHWDVVF ATYNSNISFL LCLMHCLLLL NERSYPEGFG LEPKPRMSTY HQVFLSPNED
VKEKREDLPS LSDVQHNIQK TVQTLWQQLV AQRQQTLEDA FKIDLSVKPG EREVKIEEVT
PLWEETMLKA WQHYLASEKK SLASRSNVAH HSKVTLWSGS LSSAMKLMPG RQAKDPECKT
EDFVSCIENY RRRGQELYAS LYKDHVQRRK CGNIKAANAW ARIQEQLFGE LGLWSQGEET
KPCSPWELDW REGPARMRKR IKRLSPLEAL SSGRHKESQD KNDHISQTNA ENQDELTLRE
AEGEPDEVGV DCTQLTFFPA LHESLHSEDF LELCRERQVI LQELLDKEKV TQKFSLVIVQ
GHLVSEGVLL FGHQHFYICE NFTLSPTGDV YCTRHCLSNI SDPFIFNLCS KDRSTDHYSC
QCHSYADMRE LRQARFLLQD IALEIFFHNG YSKFLVFYNN DRSKAFKSFC SFQPSLKGKA
TSEDTLSLRR YPGSDRIMLQ KWQKRDISNF EYLMYLNTAA GRTCNDYMQY PVFPWVLADY
TSETLNLANP KIFRDLSKPM GAQTKERKLK FIQRFKEVEK TEGDMTVQCH YYTHYSSAII
VASYLVRMPP FTQAFCALQG GSFDVADRMF HSVKSTWESA SRENMSDVRE LTPEFFYLPE
FLTNCNGVEF GCMQDGTVLG DVQLPPWADG DPRKFISLHR KALESDFVSA NLHHWIDLIF
GYKQQGPAAV DAVNIFHPYF YGDRMDLSSI TDPLIKSTIL GFVSNFGQVP KQLFTKPHPA
RTAAGKPLPG KDVSTPVSLP GHPQPFFYSL QSLRPSQVTV KDMYLFSLGS ESPKGAIGHI
VSTEKTILAV ERNKVLLPPL WNRTFSWGFD DFSCCLGSYG SDKVLMTFEN LAAWGRCLCA
VCPSPTTIVT SGTSTVVCVW ELSMTKGRPR GLRLRQALYG HTQAVTCLAA SVTFSLLVSG
SQDCTCILWD LDHLTHVTRL PAHREGISAI TISDVSGTIV SCAGAHLSLW NVNGQPLASI
TTAWGPEGAI TCCCLMEGPA WDTSQIIITG SQDGMVRVWK TEDVKMSVPG RPAGEEPPAQ
PPSPRGHKWE KNLALSRELD VSIALTGKPS KTSPAVTALA VSRNHTKLLV GDERGRIFCW
SADG*
speed 0.81 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

polymorphism

 Model: without_aae, prob: 2.81254622633638e-09 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:50013402T>CN/A show variant in all transcripts   IGV
HGNC symbol WDFY4
Ensembl transcript ID ENST00000413659
Genbank transcript ID N/A
UniProt peptide Q6ZS81
alteration type single base exchange
alteration region intron
DNA changes g.120482T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2170132
databasehomozygous (C/C)heterozygousallele carriers
1000G9519871938
ExAC219749847181
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3880.997
0.2550.997
(flanking)2.0291
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased120477wt: 0.9264 / mu: 0.9507 (marginal change - not scored)wt: GCCGAGCCTCATCCCCTCCAAGATCTCCACCATCATTGGCA
mu: GCCGAGCCTCATCCCCTCCAAGATCCCCACCATCATTGGCA		 ccaa|GATC
Acc increased120476wt: 0.38 / mu: 0.53wt: AGCCGAGCCTCATCCCCTCCAAGATCTCCACCATCATTGGC
mu: AGCCGAGCCTCATCCCCTCCAAGATCCCCACCATCATTGGC		 tcca|AGAT
distance from splice site 2502
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
13371337CONFLICTA -> G (in Ref. 4; BAB84911).might get lost (downstream of altered splice site)
16271647TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
20482068TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
25272821DOMAINBEACH.might get lost (downstream of altered splice site)
25952595CONFLICTD -> G (in Ref. 3; AAH47574).might get lost (downstream of altered splice site)
26832683CONFLICTE -> K (in Ref. 3; AAH47574).might get lost (downstream of altered splice site)
29302970REPEATWD 1.might get lost (downstream of altered splice site)
29803019REPEATWD 2.might get lost (downstream of altered splice site)
30223061REPEATWD 3.might get lost (downstream of altered splice site)
30713109REPEATWD 4.might get lost (downstream of altered splice site)
31183118CONFLICTP -> L (in Ref. 3; AAH47574 and 5; BAB13433).might get lost (downstream of altered splice site)
31513184REPEATWD 5.might get lost (downstream of altered splice site)
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 28 / 28
chromosome 10
strand 1
last intron/exon boundary 7807
theoretical NMD boundary in CDS 7729
length of CDS 3129
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 120482
chromosomal position
(for ins/del: last normal base / first normal base)		 50013402
original gDNA sequence snippet GCCTCATCCCCTCCAAGATCTCCACCATCATTGGCATCCTG
altered gDNA sequence snippet GCCTCATCCCCTCCAAGATCCCCACCATCATTGGCATCCTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MEAEDLSKAE DRNEDPGSKN EGQLAAVQPD VPHGGQSSSP TALWDMLERK FLEYQQLTHK
SPIERQKSLL SLLPLFLKAW EHSVGIICFP SLQRLAEDVS DQLAQQLQKA LVGKPAEQAR
LAAGQLLWWK GDVDQDGYLL LKSVYVLTGT DSETLGRVAE SGLPALLLQC LYLFFVFPLD
KDELLESDLQ VQKMFVQMLL NICSDSQGLE GLLSGSELQS LLIATTCLRE HSCCFWKEPT
FCVLRAISKA QNLSIIQYLQ ATDCVRLSLQ NLSRLTDTLP APEVSEAVSL ILGFVKDSYP
VSSALFLEFE NSEGYPLLLK VLLRYDGLTQ SEVDPHLEEL LGLVVWLTTC GRSELKVFDS
ITYPQLEGFK FHHEASGVTV KNLQAFQVLQ NVFHKASDSV LCIQVLSVIR TMWAWNARNF
FLLEWTLQPI SQFVEIMPLK PAPVQEHFFQ LLEALVFELH YVPHEILRKV QHLIKESPGP
SCTLMALQSI LSIAGGDPLF TDIFRDSGLL GLLLAQLRKQ AKIMRKSGNK VSTPGVQDPE
RELTCVMLRI VVTLLKGSVR NAVVLKDHGM VPFIKIFLDD ECYREASLSI LEQLSAINAE
EYMSIIVGAL CSSTQGELQL KLDLLKSLLR ILVTPKGRAA FRVSSGFNGL LSLLSDLEGS
LQEPPLQAWG AVSPRQTLEL VLYTLCAVSA ALHWDPVNGY FFRRNGLFEK LAEDLCLLGC
FGALEEEGNL LRSWVDTKAR PFADLLGTAF SSSGSLPPRI QSCLQILGFL DSMASGTLHL
RGDLKESLRT KQGPVVDVQK GETGSDPQRN FKQWPDLEER MDEGDAAIMH PGVVCIMVRL
LPRLYHEDHP QLSEEIQCSL ASHIQSLVKS EKNRQVMCEA GLLGTLMASC HRALVTSGSP
LHSRLIRIFE KLASQAIEPD VLRQFLGLGI PSSLSATTKI LDSSHTHRGN PGCSGSQTAQ
GLAEGPWPAA PDAGLHPGVT QAPQPLGESQ DSTTALQTAL SLISMTSPHI WKPNIWKDNL
AQKPVAGDAA QCNIFPPASS VL*
mutated AA sequence N/A
speed 0.51 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

Problems