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: ENST00000338963
Querying Taster for transcript #2: ENST00000508342
Querying Taster for transcript #3: ENST00000435532
Querying Taster for transcript #4: ENST00000506154
MT speed 0 s - this script 3.906559 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
NEDD4polymorphism_automatic3.33999494728232e-12simple_aaeaffectedN279Ssingle base exchangers2303579show file
NEDD4polymorphism_automatic7.22299997590881e-12simple_aaeaffectedN626Ssingle base exchangers2303579show file
NEDD4polymorphism_automatic2.06640260458357e-11simple_aaeaffectedN698Ssingle base exchangers2303579show file
NEDD4polymorphism_automatic7.67501950882377e-10simple_aaeaffectedN682Ssingle base exchangers2303579show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999666 (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) chr15:56152729T>CN/A show variant in all transcripts   IGV
HGNC symbol NEDD4
Ensembl transcript ID ENST00000435532
Genbank transcript ID NM_006154
UniProt peptide P46934
alteration type single base exchange
alteration region CDS
DNA changes c.836A>G
cDNA.1027A>G
g.133216A>G
AA changes N279S Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 279
frameshift no
known variant Reference ID: rs2303579
databasehomozygous (C/C)heterozygousallele carriers
1000G114710852232
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4030.199
-1.370.012
(flanking)0.2450.03
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased133215wt: 0.58 / mu: 0.99wt: ATAGCAACCAGGCCT
mu: ATAGCAGCCAGGCCT		 AGCA|acca
distance from splice site 44
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      279IIREDEATMYSNQAFPSPPPSSNL
mutated  all conserved    279IIREDEATMYSSQAFPSPPPSSN
Ptroglodytes  all conserved  ENSPTRG00000007102  626EATMYSSQAFPSPPPSSN
Mmulatta  all conserved  ENSMMUG00000008112  626EATMYSSQAFPSPPPSSN
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000032216  337IVREDENTEYSGQAVQS-PPSGH
Ggallus  all identical  ENSGALG00000004347  280IITEDEATLYSNENPQIPLPQNS
Trubripes  all conserved  ENSTRUG00000017899  276ILNEEVPTFNHSNSHSPPSPAPELHSLCDEMR
Drerio  all conserved  ENSDARG00000039778  281IITADESTLYSSLSERSPPPPHSP
Dmelanogaster  all conserved  FBgn0259174  335GLAYTPKTAATSSAPPNTPTNNN
Celegans  no alignment  Y92H12A.2  n/a
Xtropicalis  all identical  ENSXETG00000016554  282IITEDETTIYSNQNAQQGSAPTS-
protein features
start (aa)end (aa)featuredetails 
407407CONFLICTN -> H (in Ref. 5; AL832063).might get lost (downstream of altered splice site)
520528STRANDmight get lost (downstream of altered splice site)
546549STRANDmight get lost (downstream of altered splice site)
561569STRANDmight get lost (downstream of altered splice site)
578981REGIONMediates interaction with TNIK (By similarity).might get lost (downstream of altered splice site)
610643DOMAINWW 1.might get lost (downstream of altered splice site)
620620CONFLICTQ -> R (in Ref. 4; AAT52215 and 8; AAI44285).might get lost (downstream of altered splice site)
648648MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
670670MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
747747MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
767800DOMAINWW 2.might get lost (downstream of altered splice site)
840873DOMAINWW 3.might get lost (downstream of altered splice site)
846850STRANDmight get lost (downstream of altered splice site)
852854TURNmight get lost (downstream of altered splice site)
856860STRANDmight get lost (downstream of altered splice site)
861864TURNmight get lost (downstream of altered splice site)
863863CONFLICTT -> I (in Ref. 8; AAI36606/AAI44285).might get lost (downstream of altered splice site)
865869STRANDmight get lost (downstream of altered splice site)
871873TURNmight get lost (downstream of altered splice site)
892925DOMAINWW 4.might get lost (downstream of altered splice site)
941951HELIXmight get lost (downstream of altered splice site)
956958STRANDmight get lost (downstream of altered splice site)
960966STRANDmight get lost (downstream of altered splice site)
968970HELIXmight get lost (downstream of altered splice site)
971979HELIXmight get lost (downstream of altered splice site)
9841318DOMAINHECT.might get lost (downstream of altered splice site)
985989HELIXmight get lost (downstream of altered splice site)
990996STRANDmight get lost (downstream of altered splice site)
10041019HELIXmight get lost (downstream of altered splice site)
10221024HELIXmight get lost (downstream of altered splice site)
10251031STRANDmight get lost (downstream of altered splice site)
10371039STRANDmight get lost (downstream of altered splice site)
10431046HELIXmight get lost (downstream of altered splice site)
10501066HELIXmight get lost (downstream of altered splice site)
10711073STRANDmight get lost (downstream of altered splice site)
10771083HELIXmight get lost (downstream of altered splice site)
10901094HELIXmight get lost (downstream of altered splice site)
10981109HELIXmight get lost (downstream of altered splice site)
11131115HELIXmight get lost (downstream of altered splice site)
11181125STRANDmight get lost (downstream of altered splice site)
11281135STRANDmight get lost (downstream of altered splice site)
11381140HELIXmight get lost (downstream of altered splice site)
11451147TURNmight get lost (downstream of altered splice site)
11481160HELIXmight get lost (downstream of altered splice site)
11621164HELIXmight get lost (downstream of altered splice site)
11651175HELIXmight get lost (downstream of altered splice site)
11761178TURNmight get lost (downstream of altered splice site)
11811184HELIXmight get lost (downstream of altered splice site)
11891197HELIXmight get lost (downstream of altered splice site)
11991199CONFLICTL -> P (in Ref. 3; BAG65229).might get lost (downstream of altered splice site)
12041209HELIXmight get lost (downstream of altered splice site)
12111214STRANDmight get lost (downstream of altered splice site)
12191221STRANDmight get lost (downstream of altered splice site)
12221233HELIXmight get lost (downstream of altered splice site)
12361247HELIXmight get lost (downstream of altered splice site)
12481250STRANDmight get lost (downstream of altered splice site)
12571259HELIXmight get lost (downstream of altered splice site)
12631266STRANDmight get lost (downstream of altered splice site)
12681268CONFLICTS -> L (in Ref. 5; AL832063).might get lost (downstream of altered splice site)
12691273STRANDmight get lost (downstream of altered splice site)
12821284STRANDmight get lost (downstream of altered splice site)
12851287HELIXmight get lost (downstream of altered splice site)
12861286ACT_SITEGlycyl thioester intermediate (By similarity).might get lost (downstream of altered splice site)
12891292STRANDmight get lost (downstream of altered splice site)
12981310HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2703 / 2703
position (AA) of stopcodon in wt / mu AA sequence 901 / 901
position of stopcodon in wt / mu cDNA 2894 / 2894
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 192 / 192
chromosome 15
strand -1
last intron/exon boundary 2792
theoretical NMD boundary in CDS 2550
length of CDS 2703
coding sequence (CDS) position 836
cDNA position
(for ins/del: last normal base / first normal base)		 1027
gDNA position
(for ins/del: last normal base / first normal base)		 133216
chromosomal position
(for ins/del: last normal base / first normal base)		 56152729
original gDNA sequence snippet TGAAGCCACCATGTATAGCAACCAGGCCTTCCCATCACCTC
altered gDNA sequence snippet TGAAGCCACCATGTATAGCAGCCAGGCCTTCCCATCACCTC
original cDNA sequence snippet TGAAGCCACCATGTATAGCAACCAGGCCTTCCCATCACCTC
altered cDNA sequence snippet TGAAGCCACCATGTATAGCAGCCAGGCCTTCCCATCACCTC
wildtype AA sequence MATCAVEVFG LLEDEENSRI VRVRVIAGIG LAKKDILGAS DPYVRVTLYD PMNGVLTSVQ
TKTIKKSLNP KWNEEILFRV HPQQHRLLFE VFDENRLTRD DFLGQVDVPL YPLPTENPRL
ERPYTFKDFV LHPRSHKSRV KGYLRLKMTY LPKTSGSEDD NAEQAEELEP GWVVLDQPDA
ACHLQQQQEP SPLPPGWEER QDILGRTYYV NHESRRTQWK RPTPQDNLTD AENGNIQLQA
QRAFTTRRQI SEETESVDNR ESSENWEIIR EDEATMYSNQ AFPSPPPSSN LDVPTHLAEE
LNARLTIFGN SAVSQPASSS NHSSRRGSLQ AYTFEEQPTL PVLLPTSSGL PPGWEEKQDE
RGRSYYVDHN SRTTTWTKPT VQATVETSQL TSSQSSAGPQ SQASTSDSGQ QVTQPSEIEQ
GFLPKGWEVR HAPNGRPFFI DHNTKTTTWE DPRLKIPAHL RGKTSLDTSN DLGPLPPGWE
ERTHTDGRIF YINHNIKRTQ WEDPRLENVA ITGPAVPYSR DYKRKYEFFR RKLKKQNDIP
NKFEMKLRRA TVLEDSYRRI MGVKRADFLK ARLWIEFDGE KGLDYGGVAR EWFFLISKEM
FNPYYGLFEY SATDNYTLQI NPNSGLCNED HLSYFKFIGR VAGMAVYHGK LLDGFFIRPF
YKMMLHKPIT LHDMESVDSE YYNSLRWILE NDPTELDLRF IIDEELFGQT HQHELKNGGS
EIVVTNKNKK EYIYLVIQWR FVNRIQKQMA AFKEGFFELI PQDLIKIFDE NELELLMCGL
GDVDVNDWRE HTKYKNGYSA NHQVIQWFWK AVLMMDSEKR IRLLQFVTGT SRVPMNGFAE
LYGSNGPQSF TVEQWGTPEK LPRAHTCFNR LDLPPYESFE ELWDKLQMAI ENTQGFDGVD
*
mutated AA sequence MATCAVEVFG LLEDEENSRI VRVRVIAGIG LAKKDILGAS DPYVRVTLYD PMNGVLTSVQ
TKTIKKSLNP KWNEEILFRV HPQQHRLLFE VFDENRLTRD DFLGQVDVPL YPLPTENPRL
ERPYTFKDFV LHPRSHKSRV KGYLRLKMTY LPKTSGSEDD NAEQAEELEP GWVVLDQPDA
ACHLQQQQEP SPLPPGWEER QDILGRTYYV NHESRRTQWK RPTPQDNLTD AENGNIQLQA
QRAFTTRRQI SEETESVDNR ESSENWEIIR EDEATMYSSQ AFPSPPPSSN LDVPTHLAEE
LNARLTIFGN SAVSQPASSS NHSSRRGSLQ AYTFEEQPTL PVLLPTSSGL PPGWEEKQDE
RGRSYYVDHN SRTTTWTKPT VQATVETSQL TSSQSSAGPQ SQASTSDSGQ QVTQPSEIEQ
GFLPKGWEVR HAPNGRPFFI DHNTKTTTWE DPRLKIPAHL RGKTSLDTSN DLGPLPPGWE
ERTHTDGRIF YINHNIKRTQ WEDPRLENVA ITGPAVPYSR DYKRKYEFFR RKLKKQNDIP
NKFEMKLRRA TVLEDSYRRI MGVKRADFLK ARLWIEFDGE KGLDYGGVAR EWFFLISKEM
FNPYYGLFEY SATDNYTLQI NPNSGLCNED HLSYFKFIGR VAGMAVYHGK LLDGFFIRPF
YKMMLHKPIT LHDMESVDSE YYNSLRWILE NDPTELDLRF IIDEELFGQT HQHELKNGGS
EIVVTNKNKK EYIYLVIQWR FVNRIQKQMA AFKEGFFELI PQDLIKIFDE NELELLMCGL
GDVDVNDWRE HTKYKNGYSA NHQVIQWFWK AVLMMDSEKR IRLLQFVTGT SRVPMNGFAE
LYGSNGPQSF TVEQWGTPEK LPRAHTCFNR LDLPPYESFE ELWDKLQMAI ENTQGFDGVD
*
speed 0.34 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: simple_aae, prob: 0.999999999992777 (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) chr15:56152729T>CN/A show variant in all transcripts   IGV
HGNC symbol NEDD4
Ensembl transcript ID ENST00000338963
Genbank transcript ID NM_198400
UniProt peptide P46934
alteration type single base exchange
alteration region CDS
DNA changes c.1877A>G
cDNA.2177A>G
g.133216A>G
AA changes N626S Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 626
frameshift no
known variant Reference ID: rs2303579
databasehomozygous (C/C)heterozygousallele carriers
1000G114710852232
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4030.199
-1.370.012
(flanking)0.2450.03
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased133215wt: 0.58 / mu: 0.99wt: ATAGCAACCAGGCCT
mu: ATAGCAGCCAGGCCT		 AGCA|acca
distance from splice site 44
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      626IIREDEATMYSNQAFPSPPPSSNL
mutated  all conserved    626IIREDEATMYSSQAFPSPPPSSN
Ptroglodytes  all conserved  ENSPTRG00000007102  626IIREDEATMYSSQAFPSPPPSSN
Mmulatta  all conserved  ENSMMUG00000008112  626IIREDEATMYSSQAFPSPPPSSN
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000032216  337EDENTEYSGQAVQS-PPSGH
Ggallus  all identical  ENSGALG00000004347  280IITEDEATLYSNENPQIPLPQNS
Trubripes  all conserved  ENSTRUG00000017899  275ILNEEVPTFNHSNSHSPPSPAPE
Drerio  all conserved  ENSDARG00000039778  281IITADESTLYSSLSERSPPPPHSP
Dmelanogaster  all conserved  FBgn0259174  335GLAYTPKTAATSSAPPNTPTNNN
Celegans  no alignment  Y92H12A.2  n/a
Xtropicalis  all identical  ENSXETG00000016554  279IITEDETTIYSNQNAQQGSAPTS-
protein features
start (aa)end (aa)featuredetails 
578981REGIONMediates interaction with TNIK (By similarity).lost
610643DOMAINWW 1.lost
648648MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
670670MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
747747MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
767800DOMAINWW 2.might get lost (downstream of altered splice site)
840873DOMAINWW 3.might get lost (downstream of altered splice site)
846850STRANDmight get lost (downstream of altered splice site)
852854TURNmight get lost (downstream of altered splice site)
856860STRANDmight get lost (downstream of altered splice site)
861864TURNmight get lost (downstream of altered splice site)
863863CONFLICTT -> I (in Ref. 8; AAI36606/AAI44285).might get lost (downstream of altered splice site)
865869STRANDmight get lost (downstream of altered splice site)
871873TURNmight get lost (downstream of altered splice site)
892925DOMAINWW 4.might get lost (downstream of altered splice site)
941951HELIXmight get lost (downstream of altered splice site)
956958STRANDmight get lost (downstream of altered splice site)
960966STRANDmight get lost (downstream of altered splice site)
968970HELIXmight get lost (downstream of altered splice site)
971979HELIXmight get lost (downstream of altered splice site)
9841318DOMAINHECT.might get lost (downstream of altered splice site)
985989HELIXmight get lost (downstream of altered splice site)
990996STRANDmight get lost (downstream of altered splice site)
10041019HELIXmight get lost (downstream of altered splice site)
10221024HELIXmight get lost (downstream of altered splice site)
10251031STRANDmight get lost (downstream of altered splice site)
10371039STRANDmight get lost (downstream of altered splice site)
10431046HELIXmight get lost (downstream of altered splice site)
10501066HELIXmight get lost (downstream of altered splice site)
10711073STRANDmight get lost (downstream of altered splice site)
10771083HELIXmight get lost (downstream of altered splice site)
10901094HELIXmight get lost (downstream of altered splice site)
10981109HELIXmight get lost (downstream of altered splice site)
11131115HELIXmight get lost (downstream of altered splice site)
11181125STRANDmight get lost (downstream of altered splice site)
11281135STRANDmight get lost (downstream of altered splice site)
11381140HELIXmight get lost (downstream of altered splice site)
11451147TURNmight get lost (downstream of altered splice site)
11481160HELIXmight get lost (downstream of altered splice site)
11621164HELIXmight get lost (downstream of altered splice site)
11651175HELIXmight get lost (downstream of altered splice site)
11761178TURNmight get lost (downstream of altered splice site)
11811184HELIXmight get lost (downstream of altered splice site)
11891197HELIXmight get lost (downstream of altered splice site)
11991199CONFLICTL -> P (in Ref. 3; BAG65229).might get lost (downstream of altered splice site)
12041209HELIXmight get lost (downstream of altered splice site)
12111214STRANDmight get lost (downstream of altered splice site)
12191221STRANDmight get lost (downstream of altered splice site)
12221233HELIXmight get lost (downstream of altered splice site)
12361247HELIXmight get lost (downstream of altered splice site)
12481250STRANDmight get lost (downstream of altered splice site)
12571259HELIXmight get lost (downstream of altered splice site)
12631266STRANDmight get lost (downstream of altered splice site)
12681268CONFLICTS -> L (in Ref. 5; AL832063).might get lost (downstream of altered splice site)
12691273STRANDmight get lost (downstream of altered splice site)
12821284STRANDmight get lost (downstream of altered splice site)
12851287HELIXmight get lost (downstream of altered splice site)
12861286ACT_SITEGlycyl thioester intermediate (By similarity).might get lost (downstream of altered splice site)
12891292STRANDmight get lost (downstream of altered splice site)
12981310HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3744 / 3744
position (AA) of stopcodon in wt / mu AA sequence 1248 / 1248
position of stopcodon in wt / mu cDNA 4044 / 4044
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 301 / 301
chromosome 15
strand -1
last intron/exon boundary 3942
theoretical NMD boundary in CDS 3591
length of CDS 3744
coding sequence (CDS) position 1877
cDNA position
(for ins/del: last normal base / first normal base)		 2177
gDNA position
(for ins/del: last normal base / first normal base)		 133216
chromosomal position
(for ins/del: last normal base / first normal base)		 56152729
original gDNA sequence snippet TGAAGCCACCATGTATAGCAACCAGGCCTTCCCATCACCTC
altered gDNA sequence snippet TGAAGCCACCATGTATAGCAGCCAGGCCTTCCCATCACCTC
original cDNA sequence snippet TGAAGCCACCATGTATAGCAACCAGGCCTTCCCATCACCTC
altered cDNA sequence snippet TGAAGCCACCATGTATAGCAGCCAGGCCTTCCCATCACCTC
wildtype AA sequence MAQSLRLHFA ARRSNTYPLS ETSGDDLDSH VHMCFKRPTR ISTSNVVQMK LTPRQTALAP
LIKENVQSQE RSSVPSSENV NKKSSCLQIS LQPTRYSGYL QSSNVLADSD DASFTCILKD
GIYSSAVVDN ELNAVNDGHL VSSPAICSGS LSNFSTSDNG SYSSNGSDFG SCASITSGGS
YTNSVISDSS SYTFPPSDDT FLGGNLPSDS TSNRSVPNRN TTPCEIFSRS TSTDPFVQDD
LEHGLEIMKL PVSRNTKIPL KRYSSLVIFP RSPSTTRPTS PTSLCTLLSK GSYQTSHQFI
ISPSEIAHNE DGTSAKGFLS TAVNGLRLSK TICTPGEVRD IRPLHRKGSL QKKIVLSNNT
PRQTVCEKSS EGYSCVSVHF TQRKAATLDC ETTNGDCKPE MSEIKLNSDS EYIKLMHRTS
ACLPSSQNVD CQININGELE RPHSQMNKNH GILRRSISLG GAYPNISCLS SLKHNCSKGG
PSQLLIKFAS GNEGKVDNLS RDSNRDCTNE LSNSCKPGWV VLDQPDAACH LQQQQEPSPL
PPGWEERQDI LGRTYYVNHE SRRTQWKRPT PQDNLTDAEN GNIQLQAQRA FTTRRQISEE
TESVDNRESS ENWEIIREDE ATMYSNQAFP SPPPSSNLDV PTHLAEELNA RLTIFGNSAV
SQPASSSNHS SRRGSLQAYT FEEQPTLPVL LPTSSGLPPG WEEKQDERGR SYYVDHNSRT
TTWTKPTVQA TVETSQLTSS QSSAGPQSQA STSDSGQQVT QPSEIEQGFL PKGWEVRHAP
NGRPFFIDHN TKTTTWEDPR LKIPAHLRGK TSLDTSNDLG PLPPGWEERT HTDGRIFYIN
HNIKRTQWED PRLENVAITG PAVPYSRDYK RKYEFFRRKL KKQNDIPNKF EMKLRRATVL
EDSYRRIMGV KRADFLKARL WIEFDGEKGL DYGGVAREWF FLISKEMFNP YYGLFEYSAT
DNYTLQINPN SGLCNEDHLS YFKFIGRVAG MAVYHGKLLD GFFIRPFYKM MLHKPITLHD
MESVDSEYYN SLRWILENDP TELDLRFIID EELFGQTHQH ELKNGGSEIV VTNKNKKEYI
YLVIQWRFVN RIQKQMAAFK EGFFELIPQD LIKIFDENEL ELLMCGLGDV DVNDWREHTK
YKNGYSANHQ VIQWFWKAVL MMDSEKRIRL LQFVTGTSRV PMNGFAELYG SNGPQSFTVE
QWGTPEKLPR AHTCFNRLDL PPYESFEELW DKLQMAIENT QGFDGVD*
mutated AA sequence MAQSLRLHFA ARRSNTYPLS ETSGDDLDSH VHMCFKRPTR ISTSNVVQMK LTPRQTALAP
LIKENVQSQE RSSVPSSENV NKKSSCLQIS LQPTRYSGYL QSSNVLADSD DASFTCILKD
GIYSSAVVDN ELNAVNDGHL VSSPAICSGS LSNFSTSDNG SYSSNGSDFG SCASITSGGS
YTNSVISDSS SYTFPPSDDT FLGGNLPSDS TSNRSVPNRN TTPCEIFSRS TSTDPFVQDD
LEHGLEIMKL PVSRNTKIPL KRYSSLVIFP RSPSTTRPTS PTSLCTLLSK GSYQTSHQFI
ISPSEIAHNE DGTSAKGFLS TAVNGLRLSK TICTPGEVRD IRPLHRKGSL QKKIVLSNNT
PRQTVCEKSS EGYSCVSVHF TQRKAATLDC ETTNGDCKPE MSEIKLNSDS EYIKLMHRTS
ACLPSSQNVD CQININGELE RPHSQMNKNH GILRRSISLG GAYPNISCLS SLKHNCSKGG
PSQLLIKFAS GNEGKVDNLS RDSNRDCTNE LSNSCKPGWV VLDQPDAACH LQQQQEPSPL
PPGWEERQDI LGRTYYVNHE SRRTQWKRPT PQDNLTDAEN GNIQLQAQRA FTTRRQISEE
TESVDNRESS ENWEIIREDE ATMYSSQAFP SPPPSSNLDV PTHLAEELNA RLTIFGNSAV
SQPASSSNHS SRRGSLQAYT FEEQPTLPVL LPTSSGLPPG WEEKQDERGR SYYVDHNSRT
TTWTKPTVQA TVETSQLTSS QSSAGPQSQA STSDSGQQVT QPSEIEQGFL PKGWEVRHAP
NGRPFFIDHN TKTTTWEDPR LKIPAHLRGK TSLDTSNDLG PLPPGWEERT HTDGRIFYIN
HNIKRTQWED PRLENVAITG PAVPYSRDYK RKYEFFRRKL KKQNDIPNKF EMKLRRATVL
EDSYRRIMGV KRADFLKARL WIEFDGEKGL DYGGVAREWF FLISKEMFNP YYGLFEYSAT
DNYTLQINPN SGLCNEDHLS YFKFIGRVAG MAVYHGKLLD GFFIRPFYKM MLHKPITLHD
MESVDSEYYN SLRWILENDP TELDLRFIID EELFGQTHQH ELKNGGSEIV VTNKNKKEYI
YLVIQWRFVN RIQKQMAAFK EGFFELIPQD LIKIFDENEL ELLMCGLGDV DVNDWREHTK
YKNGYSANHQ VIQWFWKAVL MMDSEKRIRL LQFVTGTSRV PMNGFAELYG SNGPQSFTVE
QWGTPEKLPR AHTCFNRLDL PPYESFEELW DKLQMAIENT QGFDGVD*
speed 1.20 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: simple_aae, prob: 0.999999999979336 (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) chr15:56152729T>CN/A show variant in all transcripts   IGV
HGNC symbol NEDD4
Ensembl transcript ID ENST00000508342
Genbank transcript ID N/A
UniProt peptide P46934
alteration type single base exchange
alteration region CDS
DNA changes c.2093A>G
cDNA.2393A>G
g.133216A>G
AA changes N698S Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 698
frameshift no
known variant Reference ID: rs2303579
databasehomozygous (C/C)heterozygousallele carriers
1000G114710852232
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4030.199
-1.370.012
(flanking)0.2450.03
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased133215wt: 0.58 / mu: 0.99wt: ATAGCAACCAGGCCT
mu: ATAGCAGCCAGGCCT		 AGCA|acca
distance from splice site 44
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      698IIREDEATMYSNQAFPSPPPSSNL
mutated  all conserved    698IIREDEATMYSSQAFPSPPPSSN
Ptroglodytes  not conserved  ENSPTRG00000007102  714EKQDERGRSY---YVDHNSRTTT
Mmulatta  not conserved  ENSMMUG00000008112  714EKQDERGRSY---YVDHNSRTTT
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000032216  337SGQAVQS-PPSGH
Ggallus  all identical  ENSGALG00000004347  280YSNENPQIPLPQNS
Trubripes  all conserved  ENSTRUG00000017899  275NHSNSHSPPSPAPELHSLCDEMRN
Drerio  all conserved  ENSDARG00000039778  281YSSLSERSPPPPHSP
Dmelanogaster  all conserved  FBgn0259174  340GLAYTPKTAATSSAPPNTPTNNN
Celegans  no alignment  Y92H12A.2  n/a
Xtropicalis  all identical  ENSXETG00000016554  279IYSNQNAQQGSAPTS-
protein features
start (aa)end (aa)featuredetails 
578981REGIONMediates interaction with TNIK (By similarity).lost
747747MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
767800DOMAINWW 2.might get lost (downstream of altered splice site)
840873DOMAINWW 3.might get lost (downstream of altered splice site)
846850STRANDmight get lost (downstream of altered splice site)
852854TURNmight get lost (downstream of altered splice site)
856860STRANDmight get lost (downstream of altered splice site)
861864TURNmight get lost (downstream of altered splice site)
863863CONFLICTT -> I (in Ref. 8; AAI36606/AAI44285).might get lost (downstream of altered splice site)
865869STRANDmight get lost (downstream of altered splice site)
871873TURNmight get lost (downstream of altered splice site)
892925DOMAINWW 4.might get lost (downstream of altered splice site)
941951HELIXmight get lost (downstream of altered splice site)
956958STRANDmight get lost (downstream of altered splice site)
960966STRANDmight get lost (downstream of altered splice site)
968970HELIXmight get lost (downstream of altered splice site)
971979HELIXmight get lost (downstream of altered splice site)
9841318DOMAINHECT.might get lost (downstream of altered splice site)
985989HELIXmight get lost (downstream of altered splice site)
990996STRANDmight get lost (downstream of altered splice site)
10041019HELIXmight get lost (downstream of altered splice site)
10221024HELIXmight get lost (downstream of altered splice site)
10251031STRANDmight get lost (downstream of altered splice site)
10371039STRANDmight get lost (downstream of altered splice site)
10431046HELIXmight get lost (downstream of altered splice site)
10501066HELIXmight get lost (downstream of altered splice site)
10711073STRANDmight get lost (downstream of altered splice site)
10771083HELIXmight get lost (downstream of altered splice site)
10901094HELIXmight get lost (downstream of altered splice site)
10981109HELIXmight get lost (downstream of altered splice site)
11131115HELIXmight get lost (downstream of altered splice site)
11181125STRANDmight get lost (downstream of altered splice site)
11281135STRANDmight get lost (downstream of altered splice site)
11381140HELIXmight get lost (downstream of altered splice site)
11451147TURNmight get lost (downstream of altered splice site)
11481160HELIXmight get lost (downstream of altered splice site)
11621164HELIXmight get lost (downstream of altered splice site)
11651175HELIXmight get lost (downstream of altered splice site)
11761178TURNmight get lost (downstream of altered splice site)
11811184HELIXmight get lost (downstream of altered splice site)
11891197HELIXmight get lost (downstream of altered splice site)
11991199CONFLICTL -> P (in Ref. 3; BAG65229).might get lost (downstream of altered splice site)
12041209HELIXmight get lost (downstream of altered splice site)
12111214STRANDmight get lost (downstream of altered splice site)
12191221STRANDmight get lost (downstream of altered splice site)
12221233HELIXmight get lost (downstream of altered splice site)
12361247HELIXmight get lost (downstream of altered splice site)
12481250STRANDmight get lost (downstream of altered splice site)
12571259HELIXmight get lost (downstream of altered splice site)
12631266STRANDmight get lost (downstream of altered splice site)
12681268CONFLICTS -> L (in Ref. 5; AL832063).might get lost (downstream of altered splice site)
12691273STRANDmight get lost (downstream of altered splice site)
12821284STRANDmight get lost (downstream of altered splice site)
12851287HELIXmight get lost (downstream of altered splice site)
12861286ACT_SITEGlycyl thioester intermediate (By similarity).might get lost (downstream of altered splice site)
12891292STRANDmight get lost (downstream of altered splice site)
12981310HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3960 / 3960
position (AA) of stopcodon in wt / mu AA sequence 1320 / 1320
position of stopcodon in wt / mu cDNA 4260 / 4260
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 301 / 301
chromosome 15
strand -1
last intron/exon boundary 4158
theoretical NMD boundary in CDS 3807
length of CDS 3960
coding sequence (CDS) position 2093
cDNA position
(for ins/del: last normal base / first normal base)		 2393
gDNA position
(for ins/del: last normal base / first normal base)		 133216
chromosomal position
(for ins/del: last normal base / first normal base)		 56152729
original gDNA sequence snippet TGAAGCCACCATGTATAGCAACCAGGCCTTCCCATCACCTC
altered gDNA sequence snippet TGAAGCCACCATGTATAGCAGCCAGGCCTTCCCATCACCTC
original cDNA sequence snippet TGAAGCCACCATGTATAGCAACCAGGCCTTCCCATCACCTC
altered cDNA sequence snippet TGAAGCCACCATGTATAGCAGCCAGGCCTTCCCATCACCTC
wildtype AA sequence MAQSLRLHFA ARRSNTYPLS ETSGDDLDSH VHMCFKRPTR ISTSNVVQMK LTPRQTALAP
LIKENVQSQE RSSVPSSENV NKKSSCLQIS LQPTRYSGYL QSSNVLADSD DASFTCILKD
GIYSSAVVDN ELNAVNDGHL VSSPAICSGS LSNFSTSDNG SYSSNGSDFG SCASITSGGS
YTNSVISDSS SYTFPPSDDT FLGGNLPSDS TSNRSVPNRN TTPCEIFSRS TSTDPFVQDD
LEHGLEIMKL PVSRNTKIPL KRYSSLVIFP RSPSTTRPTS PTSLCTLLSK GSYQTSHQFI
ISPSEIAHNE DGTSAKGFLS TAVNGLRLSK TICTPGEVRD IRPLHRKGSL QKKIVLSNNT
PRQTVCEKSS EGYSCVSVHF TQRKAATLDC ETTNGDCKPE MSEIKLNSDS EYIKLMHRTS
ACLPSSQNVD CQININGELE RPHSQMNKNH GILRRSISLG GAYPNISCLS SLKHNCSKGG
PSQLLIKFAS GNEGKVDNLS RDSNRDCTNE LSNSCKTRDD FLGQVDVPLY PLPTENPRLE
RPYTFKDFVL HPRSHKSRVK GYLRLKMTYL PKTSGSEDDN AEQAEELEPG WVVLDQPDAA
CHLQQQQEPS PLPPGWEERQ DILGRTYYVN HESRRTQWKR PTPQDNLTDA ENGNIQLQAQ
RAFTTRRQIS EETESVDNRE SSENWEIIRE DEATMYSNQA FPSPPPSSNL DVPTHLAEEL
NARLTIFGNS AVSQPASSSN HSSRRGSLQA YTFEEQPTLP VLLPTSSGLP PGWEEKQDER
GRSYYVDHNS RTTTWTKPTV QATVETSQLT SSQSSAGPQS QASTSDSGQQ VTQPSEIEQG
FLPKGWEVRH APNGRPFFID HNTKTTTWED PRLKIPAHLR GKTSLDTSND LGPLPPGWEE
RTHTDGRIFY INHNIKRTQW EDPRLENVAI TGPAVPYSRD YKRKYEFFRR KLKKQNDIPN
KFEMKLRRAT VLEDSYRRIM GVKRADFLKA RLWIEFDGEK GLDYGGVARE WFFLISKEMF
NPYYGLFEYS ATDNYTLQIN PNSGLCNEDH LSYFKFIGRV AGMAVYHGKL LDGFFIRPFY
KMMLHKPITL HDMESVDSEY YNSLRWILEN DPTELDLRFI IDEELFGQTH QHELKNGGSE
IVVTNKNKKE YIYLVIQWRF VNRIQKQMAA FKEGFFELIP QDLIKIFDEN ELELLMCGLG
DVDVNDWREH TKYKNGYSAN HQVIQWFWKA VLMMDSEKRI RLLQFVTGTS RVPMNGFAEL
YGSNGPQSFT VEQWGTPEKL PRAHTCFNRL DLPPYESFEE LWDKLQMAIE NTQGFDGVD*
mutated AA sequence MAQSLRLHFA ARRSNTYPLS ETSGDDLDSH VHMCFKRPTR ISTSNVVQMK LTPRQTALAP
LIKENVQSQE RSSVPSSENV NKKSSCLQIS LQPTRYSGYL QSSNVLADSD DASFTCILKD
GIYSSAVVDN ELNAVNDGHL VSSPAICSGS LSNFSTSDNG SYSSNGSDFG SCASITSGGS
YTNSVISDSS SYTFPPSDDT FLGGNLPSDS TSNRSVPNRN TTPCEIFSRS TSTDPFVQDD
LEHGLEIMKL PVSRNTKIPL KRYSSLVIFP RSPSTTRPTS PTSLCTLLSK GSYQTSHQFI
ISPSEIAHNE DGTSAKGFLS TAVNGLRLSK TICTPGEVRD IRPLHRKGSL QKKIVLSNNT
PRQTVCEKSS EGYSCVSVHF TQRKAATLDC ETTNGDCKPE MSEIKLNSDS EYIKLMHRTS
ACLPSSQNVD CQININGELE RPHSQMNKNH GILRRSISLG GAYPNISCLS SLKHNCSKGG
PSQLLIKFAS GNEGKVDNLS RDSNRDCTNE LSNSCKTRDD FLGQVDVPLY PLPTENPRLE
RPYTFKDFVL HPRSHKSRVK GYLRLKMTYL PKTSGSEDDN AEQAEELEPG WVVLDQPDAA
CHLQQQQEPS PLPPGWEERQ DILGRTYYVN HESRRTQWKR PTPQDNLTDA ENGNIQLQAQ
RAFTTRRQIS EETESVDNRE SSENWEIIRE DEATMYSSQA FPSPPPSSNL DVPTHLAEEL
NARLTIFGNS AVSQPASSSN HSSRRGSLQA YTFEEQPTLP VLLPTSSGLP PGWEEKQDER
GRSYYVDHNS RTTTWTKPTV QATVETSQLT SSQSSAGPQS QASTSDSGQQ VTQPSEIEQG
FLPKGWEVRH APNGRPFFID HNTKTTTWED PRLKIPAHLR GKTSLDTSND LGPLPPGWEE
RTHTDGRIFY INHNIKRTQW EDPRLENVAI TGPAVPYSRD YKRKYEFFRR KLKKQNDIPN
KFEMKLRRAT VLEDSYRRIM GVKRADFLKA RLWIEFDGEK GLDYGGVARE WFFLISKEMF
NPYYGLFEYS ATDNYTLQIN PNSGLCNEDH LSYFKFIGRV AGMAVYHGKL LDGFFIRPFY
KMMLHKPITL HDMESVDSEY YNSLRWILEN DPTELDLRFI IDEELFGQTH QHELKNGGSE
IVVTNKNKKE YIYLVIQWRF VNRIQKQMAA FKEGFFELIP QDLIKIFDEN ELELLMCGLG
DVDVNDWREH TKYKNGYSAN HQVIQWFWKA VLMMDSEKRI RLLQFVTGTS RVPMNGFAEL
YGSNGPQSFT VEQWGTPEKL PRAHTCFNRL DLPPYESFEE LWDKLQMAIE NTQGFDGVD*
speed 0.89 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: simple_aae, prob: 0.999999999232498 (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) chr15:56152729T>CN/A show variant in all transcripts   IGV
HGNC symbol NEDD4
Ensembl transcript ID ENST00000506154
Genbank transcript ID N/A
UniProt peptide P46934
alteration type single base exchange
alteration region CDS
DNA changes c.2045A>G
cDNA.2322A>G
g.133216A>G
AA changes N682S Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 682
frameshift no
known variant Reference ID: rs2303579
databasehomozygous (C/C)heterozygousallele carriers
1000G114710852232
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4030.199
-1.370.012
(flanking)0.2450.03
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased133215wt: 0.58 / mu: 0.99wt: ATAGCAACCAGGCCT
mu: ATAGCAGCCAGGCCT		 AGCA|acca
distance from splice site 44
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      682IIREDEATMYSNQAFPSPPPSSNL
mutated  all conserved    682IIREDEATMYSSQAFPSPPPSSN
Ptroglodytes  all identical  ENSPTRG00000007102  657EELNARLTIFGNSAMSQPASSS-
Mmulatta  not conserved  ENSMMUG00000008112  681SSRRGSLQAYTFEEQPALPVLLPTSS
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000032216  337SGQAVQS-PPSGH
Ggallus  all identical  ENSGALG00000004347  280YSNENPQIPLPQNS
Trubripes  all conserved  ENSTRUG00000017899  275ILNEEVPTFNHSN
Drerio  all conserved  ENSDARG00000039778  281SSLSERSPPPPHSP
Dmelanogaster  all conserved  FBgn0259174  340GLAYTPKTAATSSAPPNTPTNNN
Celegans  no alignment  Y92H12A.2  n/a
Xtropicalis  all identical  ENSXETG00000016554  279IYSNQNAQQGSAPTS-
protein features
start (aa)end (aa)featuredetails 
578981REGIONMediates interaction with TNIK (By similarity).lost
747747MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
767800DOMAINWW 2.might get lost (downstream of altered splice site)
840873DOMAINWW 3.might get lost (downstream of altered splice site)
846850STRANDmight get lost (downstream of altered splice site)
852854TURNmight get lost (downstream of altered splice site)
856860STRANDmight get lost (downstream of altered splice site)
861864TURNmight get lost (downstream of altered splice site)
863863CONFLICTT -> I (in Ref. 8; AAI36606/AAI44285).might get lost (downstream of altered splice site)
865869STRANDmight get lost (downstream of altered splice site)
871873TURNmight get lost (downstream of altered splice site)
892925DOMAINWW 4.might get lost (downstream of altered splice site)
941951HELIXmight get lost (downstream of altered splice site)
956958STRANDmight get lost (downstream of altered splice site)
960966STRANDmight get lost (downstream of altered splice site)
968970HELIXmight get lost (downstream of altered splice site)
971979HELIXmight get lost (downstream of altered splice site)
9841318DOMAINHECT.might get lost (downstream of altered splice site)
985989HELIXmight get lost (downstream of altered splice site)
990996STRANDmight get lost (downstream of altered splice site)
10041019HELIXmight get lost (downstream of altered splice site)
10221024HELIXmight get lost (downstream of altered splice site)
10251031STRANDmight get lost (downstream of altered splice site)
10371039STRANDmight get lost (downstream of altered splice site)
10431046HELIXmight get lost (downstream of altered splice site)
10501066HELIXmight get lost (downstream of altered splice site)
10711073STRANDmight get lost (downstream of altered splice site)
10771083HELIXmight get lost (downstream of altered splice site)
10901094HELIXmight get lost (downstream of altered splice site)
10981109HELIXmight get lost (downstream of altered splice site)
11131115HELIXmight get lost (downstream of altered splice site)
11181125STRANDmight get lost (downstream of altered splice site)
11281135STRANDmight get lost (downstream of altered splice site)
11381140HELIXmight get lost (downstream of altered splice site)
11451147TURNmight get lost (downstream of altered splice site)
11481160HELIXmight get lost (downstream of altered splice site)
11621164HELIXmight get lost (downstream of altered splice site)
11651175HELIXmight get lost (downstream of altered splice site)
11761178TURNmight get lost (downstream of altered splice site)
11811184HELIXmight get lost (downstream of altered splice site)
11891197HELIXmight get lost (downstream of altered splice site)
11991199CONFLICTL -> P (in Ref. 3; BAG65229).might get lost (downstream of altered splice site)
12041209HELIXmight get lost (downstream of altered splice site)
12111214STRANDmight get lost (downstream of altered splice site)
12191221STRANDmight get lost (downstream of altered splice site)
12221233HELIXmight get lost (downstream of altered splice site)
12361247HELIXmight get lost (downstream of altered splice site)
12481250STRANDmight get lost (downstream of altered splice site)
12571259HELIXmight get lost (downstream of altered splice site)
12631266STRANDmight get lost (downstream of altered splice site)
12681268CONFLICTS -> L (in Ref. 5; AL832063).might get lost (downstream of altered splice site)
12691273STRANDmight get lost (downstream of altered splice site)
12821284STRANDmight get lost (downstream of altered splice site)
12851287HELIXmight get lost (downstream of altered splice site)
12861286ACT_SITEGlycyl thioester intermediate (By similarity).might get lost (downstream of altered splice site)
12891292STRANDmight get lost (downstream of altered splice site)
12981310HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3912 / 3912
position (AA) of stopcodon in wt / mu AA sequence 1304 / 1304
position of stopcodon in wt / mu cDNA 4189 / 4189
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 278 / 278
chromosome 15
strand -1
last intron/exon boundary 4087
theoretical NMD boundary in CDS 3759
length of CDS 3912
coding sequence (CDS) position 2045
cDNA position
(for ins/del: last normal base / first normal base)		 2322
gDNA position
(for ins/del: last normal base / first normal base)		 133216
chromosomal position
(for ins/del: last normal base / first normal base)		 56152729
original gDNA sequence snippet TGAAGCCACCATGTATAGCAACCAGGCCTTCCCATCACCTC
altered gDNA sequence snippet TGAAGCCACCATGTATAGCAGCCAGGCCTTCCCATCACCTC
original cDNA sequence snippet TGAAGCCACCATGTATAGCAACCAGGCCTTCCCATCACCTC
altered cDNA sequence snippet TGAAGCCACCATGTATAGCAGCCAGGCCTTCCCATCACCTC
wildtype AA sequence MAQSLRLHFA ARRSNTYPLS ETSGDDLDSH VHMCFKRPTR ISTSNVVQMK LTPRQTALAP
LIKENVQSQE RSSVPSSENV NKKSSCLQIS LQPTRYSGYL QSSNVLADSD DASFTCILKD
GIYSSAVVDN ELNAVNDGHL VSSPAICSGS LSNFSTSDNG SYSSNGSDFG SCASITSGGS
YTNSVISDSS SYTFPPSDDT FLGGNLPSDS TSNRSVPNRN TTPCEIFSRS TSTDPFVQDD
LEHGLEIMKL PVSRNTKIPL KRYSSLVIFP RSPSTTRPTS PTSLCTLLSK GSYQTSHQFI
ISPSEIAHNE DGTSAKGFLS TAVNGLRLSK TICTPGEVRD IRPLHRKGSL QKKIVLSNNT
PRQTVCEKSS EGYSCVSVHF TQRKAATLDC ETTNGDCKPE MSEIKLNSDS EYIKLMHRTS
ACLPSSQNVD CQININGELE RPHSQMNKNH GILRRSISLG GAYPNISCLS SLKHNCSKGG
PSQLLIKFAS GNEGKVDNLS RDSNRDCTNE LSNSCKTRDD FLGQVDVPLY PLPTENPRLE
RPYTFKDFVL HPRSHKSRVK GYLRLKMTYL PKTSGSEDDN AEQAEELEQQ QEPSPLPPGW
EERQDILGRT YYVNHESRRT QWKRPTPQDN LTDAENGNIQ LQAQRAFTTR RQISEETESV
DNRESSENWE IIREDEATMY SNQAFPSPPP SSNLDVPTHL AEELNARLTI FGNSAVSQPA
SSSNHSSRRG SLQAYTFEEQ PTLPVLLPTS SGLPPGWEEK QDERGRSYYV DHNSRTTTWT
KPTVQATVET SQLTSSQSSA GPQSQASTSD SGQQVTQPSE IEQGFLPKGW EVRHAPNGRP
FFIDHNTKTT TWEDPRLKIP AHLRGKTSLD TSNDLGPLPP GWEERTHTDG RIFYINHNIK
RTQWEDPRLE NVAITGPAVP YSRDYKRKYE FFRRKLKKQN DIPNKFEMKL RRATVLEDSY
RRIMGVKRAD FLKARLWIEF DGEKGLDYGG VAREWFFLIS KEMFNPYYGL FEYSATDNYT
LQINPNSGLC NEDHLSYFKF IGRVAGMAVY HGKLLDGFFI RPFYKMMLHK PITLHDMESV
DSEYYNSLRW ILENDPTELD LRFIIDEELF GQTHQHELKN GGSEIVVTNK NKKEYIYLVI
QWRFVNRIQK QMAAFKEGFF ELIPQDLIKI FDENELELLM CGLGDVDVND WREHTKYKNG
YSANHQVIQW FWKAVLMMDS EKRIRLLQFV TGTSRVPMNG FAELYGSNGP QSFTVEQWGT
PEKLPRAHTC FNRLDLPPYE SFEELWDKLQ MAIENTQGFD GVD*
mutated AA sequence MAQSLRLHFA ARRSNTYPLS ETSGDDLDSH VHMCFKRPTR ISTSNVVQMK LTPRQTALAP
LIKENVQSQE RSSVPSSENV NKKSSCLQIS LQPTRYSGYL QSSNVLADSD DASFTCILKD
GIYSSAVVDN ELNAVNDGHL VSSPAICSGS LSNFSTSDNG SYSSNGSDFG SCASITSGGS
YTNSVISDSS SYTFPPSDDT FLGGNLPSDS TSNRSVPNRN TTPCEIFSRS TSTDPFVQDD
LEHGLEIMKL PVSRNTKIPL KRYSSLVIFP RSPSTTRPTS PTSLCTLLSK GSYQTSHQFI
ISPSEIAHNE DGTSAKGFLS TAVNGLRLSK TICTPGEVRD IRPLHRKGSL QKKIVLSNNT
PRQTVCEKSS EGYSCVSVHF TQRKAATLDC ETTNGDCKPE MSEIKLNSDS EYIKLMHRTS
ACLPSSQNVD CQININGELE RPHSQMNKNH GILRRSISLG GAYPNISCLS SLKHNCSKGG
PSQLLIKFAS GNEGKVDNLS RDSNRDCTNE LSNSCKTRDD FLGQVDVPLY PLPTENPRLE
RPYTFKDFVL HPRSHKSRVK GYLRLKMTYL PKTSGSEDDN AEQAEELEQQ QEPSPLPPGW
EERQDILGRT YYVNHESRRT QWKRPTPQDN LTDAENGNIQ LQAQRAFTTR RQISEETESV
DNRESSENWE IIREDEATMY SSQAFPSPPP SSNLDVPTHL AEELNARLTI FGNSAVSQPA
SSSNHSSRRG SLQAYTFEEQ PTLPVLLPTS SGLPPGWEEK QDERGRSYYV DHNSRTTTWT
KPTVQATVET SQLTSSQSSA GPQSQASTSD SGQQVTQPSE IEQGFLPKGW EVRHAPNGRP
FFIDHNTKTT TWEDPRLKIP AHLRGKTSLD TSNDLGPLPP GWEERTHTDG RIFYINHNIK
RTQWEDPRLE NVAITGPAVP YSRDYKRKYE FFRRKLKKQN DIPNKFEMKL RRATVLEDSY
RRIMGVKRAD FLKARLWIEF DGEKGLDYGG VAREWFFLIS KEMFNPYYGL FEYSATDNYT
LQINPNSGLC NEDHLSYFKF IGRVAGMAVY HGKLLDGFFI RPFYKMMLHK PITLHDMESV
DSEYYNSLRW ILENDPTELD LRFIIDEELF GQTHQHELKN GGSEIVVTNK NKKEYIYLVI
QWRFVNRIQK QMAAFKEGFF ELIPQDLIKI FDENELELLM CGLGDVDVND WREHTKYKNG
YSANHQVIQW FWKAVLMMDS EKRIRLLQFV TGTSRVPMNG FAELYGSNGP QSFTVEQWGT
PEKLPRAHTC FNRLDLPPYE SFEELWDKLQ MAIENTQGFD GVD*
speed 0.33 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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