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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000359428
Querying Taster for transcript #2: ENST00000411637
Querying Taster for transcript #3: ENST00000451030
MT speed 0 s - this script 4.951395 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
NUP214polymorphism_automatic0.32750805239812simple_aaeaffectedP574Ssingle base exchangers103612show file
NUP214polymorphism_automatic0.490680698596775simple_aaeaffectedP574Ssingle base exchangers103612show file
NUP214polymorphism_automatic0.490680698596775simple_aaeaffectedP574Ssingle base exchangers103612show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.67249194760188 (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) chr9:134020092C>TN/A show variant in all transcripts   IGV
HGNC symbol NUP214
Ensembl transcript ID ENST00000411637
Genbank transcript ID N/A
UniProt peptide P35658
alteration type single base exchange
alteration region CDS
DNA changes c.1720C>T
cDNA.1839C>T
g.19145C>T
AA changes P574S Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 574
frameshift no
known variant Reference ID: rs103612
databasehomozygous (T/T)heterozygousallele carriers
1000G102111732194
ExAC26812-208575955
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)3.4660.972
0.5750.676
(flanking)0.8550.463
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased19138wt: 0.9924 / mu: 0.9960 (marginal change - not scored)wt: ATAGCAATGAAGCCC
mu: ATAGCAATGAAGTCC		 AGCA|atga
Acc gained191550.31mu: AGCAATGAAGTCCTCCTTCCCACCCTCAACCTCTGCTGTCA tccc|ACCC
distance from splice site 50
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      574PSVSAPNIAMKPSFPPSTSAVKVN
mutated  not conserved    574PSVSAPNIAMKSSFPPSTSAVKV
Ptroglodytes  not conserved  ENSPTRG00000021482  868STEEATSSALPE-----KP
Mmulatta  all identical  ENSMMUG00000021724  574PSMSAPNIAVKPSFPPSTSAVKV
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000001855  572S--STPNTGMKPSFPPSASSVKV
Ggallus  not conserved  ENSGALG00000003830  567PHSTAP-AAQKSSFAPSASSVKV
Trubripes  not conserved  ENSTRUG00000007589  569PAATASLPSLQSIAAPSPPTIKL
Drerio  all identical  ENSDARG00000016212  573FSLPPLSSAAPPAFSLGSSSSGFSF
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000001475  582------QAATAPVFTPTPSTVKM
protein features
start (aa)end (aa)featuredetails 
4812076REGION11 X 5 AA approximate repeats.lost
646646MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
651651MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
655655MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
657657MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
666666MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
670670MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
678678MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
740768REGIONLeucine-zipper 1.might get lost (downstream of altered splice site)
812813SITEBreakpoint.might get lost (downstream of altered splice site)
861882REGIONLeucine-zipper 2.might get lost (downstream of altered splice site)
940940MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
970970MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
974974MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
985985MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
987987MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
989989MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10811081MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10911092CONFLICTAA -> QL (in Ref. 1; CAA45535).might get lost (downstream of altered splice site)
11361136MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11561156MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
11811181MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12031203MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
12132090COMPBIASPro/Ser/Thr-rich.might get lost (downstream of altered splice site)
13121312MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
13331333MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13561356MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14092084REGION18 X 4 AA approximate repeats.might get lost (downstream of altered splice site)
14272085REGION11 X 3 AA approximate repeats.might get lost (downstream of altered splice site)
18721872CONFLICTS -> N (in Ref. 5; AAH45620).might get lost (downstream of altered splice site)
19631963MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 6243 / 6243
position (AA) of stopcodon in wt / mu AA sequence 2081 / 2081
position of stopcodon in wt / mu cDNA 6362 / 6362
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 120 / 120
chromosome 9
strand 1
last intron/exon boundary 6329
theoretical NMD boundary in CDS 6159
length of CDS 6243
coding sequence (CDS) position 1720
cDNA position
(for ins/del: last normal base / first normal base)		 1839
gDNA position
(for ins/del: last normal base / first normal base)		 19145
chromosomal position
(for ins/del: last normal base / first normal base)		 134020092
original gDNA sequence snippet CTCCAAATATAGCAATGAAGCCCTCCTTCCCACCCTCAACC
altered gDNA sequence snippet CTCCAAATATAGCAATGAAGTCCTCCTTCCCACCCTCAACC
original cDNA sequence snippet CTCCAAATATAGCAATGAAGCCCTCCTTCCCACCCTCAACC
altered cDNA sequence snippet CTCCAAATATAGCAATGAAGTCCTCCTTCCCACCCTCAACC
wildtype AA sequence MGDEMDAMIP EREMKDFQFR ALKKVRIFDS PEELPKERSS LLAVSNKYGL VFAGGASGLQ
IFPTKNLLIQ NKPGDDPNKI VDKVQGLLVP MKFPIHHLAL SCDNLTLSAC MMSSEYGSII
AFFDVRTFSN EAKQQKRPFA YHKLLKDAGG MVIDMKWNPT VPSMVAVCLA DGSIAVLQVT
ETVKVCATLP STVAVTSVCW SPKGKQLAVG KQNGTVVQYL PTLQEKKVIP CPPFYESDHP
VRVLDVLWIG TYVFAIVYAA ADGTLETSPD VVMALLPKKE EKHPEIFVNF MEPCYGSCTE
RQHHYYLSYI EEWDLVLAAS AASTEVSILA RQSDQINWES WLLEDSSRAE LPVTDKSDDS
LPMGVVVDYT NQVEITISDE KTLPPAPVLM LLSTDGVLCP FYMINQNPGV KSLIKTPERL
SLEGERQPKS PGSTPTTPTS SQAPQKLDAS AAAAPASLPP SSPAAPIATF SLLPAGGAPT
VFSFGSSSLK SSATVTGEPP SYSSGSDSSK AAPGPGPSTF SFVPPSKASL APTPAASPVA
PSAASFSFGS SGFKPTLEST PVPSVSAPNI AMKPSFPPST SAVKVNLSEN SSQSAPPMSP
FSSASKPAAS GPLSHPTPLS APPSSVPLKS SVLPSPSAGR SAQGSSSPVP SMVQKSPRIT
PPAAKPGSPQ AKSLQPAVAE KQGHQWKDSD PVMAGIGEEI AHFQKELEEL KARTSKACFQ
VGTSEEMKML RTESDDLHTF LLEIKETTES LHGDISSLKT TLLEGFAGVE EAREQNERNR
DSGYLHLLYK RPLDPKSEAQ LQEIRRLHQY VKFAVQDVND VLDLEWDQHL EQKKKQRHLL
VPERETLFNT LANNREIINQ QRKRLNHLVD SLQQLRLYKQ TSLWSLSSAV PSQSSIHSFD
SDLESLCNAL LKTTIESHTK SLPKVPAKLS PMKQAQLRNF LAKRKTPPVR STAPASLSRS
AFLSQRYYED LDEVSSTSSV SQSLESEDAR TSCKDDEAVV QAPRHAPVVR TPSIQPSLLP
HAAPFAKSHL VHGSSPGVMG TSVATSASKI IPQGADSTML ATKTVKHGAP SPSHPISAPQ
AAAAAALRRQ MASQAPAVNT LTESTLKNVP QVVNVQELKN NPATPSTAMG SSVPYSTAKT
PHPVLTPVAA NQAKQGSLIN SLKPSGPTPA SGQLSSGDKA SGTAKIETAV TSTPSASGQF
SKPFSFSPSG TGFNFGIITP TPSSNFTAAQ GATPSTKESS QPDAFSSGGG SKPSYEAIPE
SSPPSGITSA SNTTPGEPAA SSSRPVAPSG TALSTTSSKL ETPPSKLGEL LFPSSLAGET
LGSFSGLRVG QADDSTKPTN KASSTSLTST QPTKTSGVPS GFNFTAPPVL GKHTEPPVTS
SATTTSVAPP AATSTSSTAV FGSLPVTSAG SSGVISFGGT SLSAGKTSFS FGSQQTNSTV
PPSAPPPTTA ATPLPTSFPT LSFGSLLSSA TTPSLPMSAG RSTEEATSSA LPEKPGDSEV
SASAASLLEE QQSAQLPQAP PQTSDSVKKE PVLAQPAVSN SGTAASSTSL VALSAEATPA
TTGVPDARTE AVPPASSFSV PGQTAVTAAA ISSAGPVAVE TSSTPIASST TSIVAPGPSA
EAAAFGTVTS GSSVFAQPPA ASSSSAFNQL TNNTATAPSA TPVFGQVAAS TAPSLFGQQT
GSTASTAAAT PQVSSSGFSS PAFGTTAPGV FGQTTFGQAS VFGQSASSAA SVFSFSQPGF
SSVPAFGQPA SSTPTSTSGS VFGAASSTSS SSSFSFGQSS PNTGGGLFGQ SNAPAFGQSP
GFGQGGSVFG GTSAATTTAA TSGFSFCQAS GFGSSNTGSV FGQAASTGGI VFGQQSSSSS
GSVFGSGNTG RGGGFFSGLG GKPSQDAANK NPFSSASGGF GSTATSNTSN LFGNSGAKTF
GGFASSSFGE QKPTGTFSSG GGSVASQGFG FSSPNKTGGF GAAPVFGSPP TFGGSPGFGG
VPAFGSAPAF TSPLGSTGGK VFGEGTAAAS AGGFGFGSSS NTTSFGTLAS QNAPTFGSLS
QQTSGFGTQS SGFSGFGSGT GGFSFGSNNS SVQGFGGWRS *
mutated AA sequence MGDEMDAMIP EREMKDFQFR ALKKVRIFDS PEELPKERSS LLAVSNKYGL VFAGGASGLQ
IFPTKNLLIQ NKPGDDPNKI VDKVQGLLVP MKFPIHHLAL SCDNLTLSAC MMSSEYGSII
AFFDVRTFSN EAKQQKRPFA YHKLLKDAGG MVIDMKWNPT VPSMVAVCLA DGSIAVLQVT
ETVKVCATLP STVAVTSVCW SPKGKQLAVG KQNGTVVQYL PTLQEKKVIP CPPFYESDHP
VRVLDVLWIG TYVFAIVYAA ADGTLETSPD VVMALLPKKE EKHPEIFVNF MEPCYGSCTE
RQHHYYLSYI EEWDLVLAAS AASTEVSILA RQSDQINWES WLLEDSSRAE LPVTDKSDDS
LPMGVVVDYT NQVEITISDE KTLPPAPVLM LLSTDGVLCP FYMINQNPGV KSLIKTPERL
SLEGERQPKS PGSTPTTPTS SQAPQKLDAS AAAAPASLPP SSPAAPIATF SLLPAGGAPT
VFSFGSSSLK SSATVTGEPP SYSSGSDSSK AAPGPGPSTF SFVPPSKASL APTPAASPVA
PSAASFSFGS SGFKPTLEST PVPSVSAPNI AMKSSFPPST SAVKVNLSEN SSQSAPPMSP
FSSASKPAAS GPLSHPTPLS APPSSVPLKS SVLPSPSAGR SAQGSSSPVP SMVQKSPRIT
PPAAKPGSPQ AKSLQPAVAE KQGHQWKDSD PVMAGIGEEI AHFQKELEEL KARTSKACFQ
VGTSEEMKML RTESDDLHTF LLEIKETTES LHGDISSLKT TLLEGFAGVE EAREQNERNR
DSGYLHLLYK RPLDPKSEAQ LQEIRRLHQY VKFAVQDVND VLDLEWDQHL EQKKKQRHLL
VPERETLFNT LANNREIINQ QRKRLNHLVD SLQQLRLYKQ TSLWSLSSAV PSQSSIHSFD
SDLESLCNAL LKTTIESHTK SLPKVPAKLS PMKQAQLRNF LAKRKTPPVR STAPASLSRS
AFLSQRYYED LDEVSSTSSV SQSLESEDAR TSCKDDEAVV QAPRHAPVVR TPSIQPSLLP
HAAPFAKSHL VHGSSPGVMG TSVATSASKI IPQGADSTML ATKTVKHGAP SPSHPISAPQ
AAAAAALRRQ MASQAPAVNT LTESTLKNVP QVVNVQELKN NPATPSTAMG SSVPYSTAKT
PHPVLTPVAA NQAKQGSLIN SLKPSGPTPA SGQLSSGDKA SGTAKIETAV TSTPSASGQF
SKPFSFSPSG TGFNFGIITP TPSSNFTAAQ GATPSTKESS QPDAFSSGGG SKPSYEAIPE
SSPPSGITSA SNTTPGEPAA SSSRPVAPSG TALSTTSSKL ETPPSKLGEL LFPSSLAGET
LGSFSGLRVG QADDSTKPTN KASSTSLTST QPTKTSGVPS GFNFTAPPVL GKHTEPPVTS
SATTTSVAPP AATSTSSTAV FGSLPVTSAG SSGVISFGGT SLSAGKTSFS FGSQQTNSTV
PPSAPPPTTA ATPLPTSFPT LSFGSLLSSA TTPSLPMSAG RSTEEATSSA LPEKPGDSEV
SASAASLLEE QQSAQLPQAP PQTSDSVKKE PVLAQPAVSN SGTAASSTSL VALSAEATPA
TTGVPDARTE AVPPASSFSV PGQTAVTAAA ISSAGPVAVE TSSTPIASST TSIVAPGPSA
EAAAFGTVTS GSSVFAQPPA ASSSSAFNQL TNNTATAPSA TPVFGQVAAS TAPSLFGQQT
GSTASTAAAT PQVSSSGFSS PAFGTTAPGV FGQTTFGQAS VFGQSASSAA SVFSFSQPGF
SSVPAFGQPA SSTPTSTSGS VFGAASSTSS SSSFSFGQSS PNTGGGLFGQ SNAPAFGQSP
GFGQGGSVFG GTSAATTTAA TSGFSFCQAS GFGSSNTGSV FGQAASTGGI VFGQQSSSSS
GSVFGSGNTG RGGGFFSGLG GKPSQDAANK NPFSSASGGF GSTATSNTSN LFGNSGAKTF
GGFASSSFGE QKPTGTFSSG GGSVASQGFG FSSPNKTGGF GAAPVFGSPP TFGGSPGFGG
VPAFGSAPAF TSPLGSTGGK VFGEGTAAAS AGGFGFGSSS NTTSFGTLAS QNAPTFGSLS
QQTSGFGTQS SGFSGFGSGT GGFSFGSNNS SVQGFGGWRS *
speed 1.53 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: 0.509319301403225 (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) chr9:134020092C>TN/A show variant in all transcripts   IGV
HGNC symbol NUP214
Ensembl transcript ID ENST00000359428
Genbank transcript ID NM_005085
UniProt peptide P35658
alteration type single base exchange
alteration region CDS
DNA changes c.1720C>T
cDNA.1864C>T
g.19145C>T
AA changes P574S Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 574
frameshift no
known variant Reference ID: rs103612
databasehomozygous (T/T)heterozygousallele carriers
1000G102111732194
ExAC26812-208575955
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)3.4660.972
0.5750.676
(flanking)0.8550.463
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased19138wt: 0.9924 / mu: 0.9960 (marginal change - not scored)wt: ATAGCAATGAAGCCC
mu: ATAGCAATGAAGTCC		 AGCA|atga
Acc gained191550.31mu: AGCAATGAAGTCCTCCTTCCCACCCTCAACCTCTGCTGTCA tccc|ACCC
distance from splice site 50
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      574PSVSAPNIAMKPSFPPSTSAVKVN
mutated  not conserved    574PSVSAPNIAMKSSFPPSTSAVKV
Ptroglodytes  all identical  ENSPTRG00000021482  914DSVKKEPVLAQPAVSNSGTAASSTSLV
Mmulatta  all identical  ENSMMUG00000021724  574PSMSAPNIAVKPSFPPSTSAVKV
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000001855  572S--STPNTGMKPSFPPSASSVKV
Ggallus  not conserved  ENSGALG00000003830  567PHSTAP-AAQKSSFAPSASSVKV
Trubripes  not conserved  ENSTRUG00000007589  569PAATASLPSLQSIAAPSPPTIKL
Drerio  not conserved  ENSDARG00000016212  573PPTSSSGFSF--SLPPLSSAAPPAF
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000001475  582------QAATAPVFTPTPSTVKM
protein features
start (aa)end (aa)featuredetails 
4812076REGION11 X 5 AA approximate repeats.lost
646646MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
651651MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
655655MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
657657MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
666666MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
670670MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
678678MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
740768REGIONLeucine-zipper 1.might get lost (downstream of altered splice site)
812813SITEBreakpoint.might get lost (downstream of altered splice site)
861882REGIONLeucine-zipper 2.might get lost (downstream of altered splice site)
940940MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
970970MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
974974MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
985985MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
987987MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
989989MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10811081MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10911092CONFLICTAA -> QL (in Ref. 1; CAA45535).might get lost (downstream of altered splice site)
11361136MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11561156MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
11811181MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12031203MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
12132090COMPBIASPro/Ser/Thr-rich.might get lost (downstream of altered splice site)
13121312MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
13331333MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13561356MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14092084REGION18 X 4 AA approximate repeats.might get lost (downstream of altered splice site)
14272085REGION11 X 3 AA approximate repeats.might get lost (downstream of altered splice site)
18721872CONFLICTS -> N (in Ref. 5; AAH45620).might get lost (downstream of altered splice site)
19631963MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 6273 / 6273
position (AA) of stopcodon in wt / mu AA sequence 2091 / 2091
position of stopcodon in wt / mu cDNA 6417 / 6417
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 145 / 145
chromosome 9
strand 1
last intron/exon boundary 6384
theoretical NMD boundary in CDS 6189
length of CDS 6273
coding sequence (CDS) position 1720
cDNA position
(for ins/del: last normal base / first normal base)		 1864
gDNA position
(for ins/del: last normal base / first normal base)		 19145
chromosomal position
(for ins/del: last normal base / first normal base)		 134020092
original gDNA sequence snippet CTCCAAATATAGCAATGAAGCCCTCCTTCCCACCCTCAACC
altered gDNA sequence snippet CTCCAAATATAGCAATGAAGTCCTCCTTCCCACCCTCAACC
original cDNA sequence snippet CTCCAAATATAGCAATGAAGCCCTCCTTCCCACCCTCAACC
altered cDNA sequence snippet CTCCAAATATAGCAATGAAGTCCTCCTTCCCACCCTCAACC
wildtype AA sequence MGDEMDAMIP EREMKDFQFR ALKKVRIFDS PEELPKERSS LLAVSNKYGL VFAGGASGLQ
IFPTKNLLIQ NKPGDDPNKI VDKVQGLLVP MKFPIHHLAL SCDNLTLSAC MMSSEYGSII
AFFDVRTFSN EAKQQKRPFA YHKLLKDAGG MVIDMKWNPT VPSMVAVCLA DGSIAVLQVT
ETVKVCATLP STVAVTSVCW SPKGKQLAVG KQNGTVVQYL PTLQEKKVIP CPPFYESDHP
VRVLDVLWIG TYVFAIVYAA ADGTLETSPD VVMALLPKKE EKHPEIFVNF MEPCYGSCTE
RQHHYYLSYI EEWDLVLAAS AASTEVSILA RQSDQINWES WLLEDSSRAE LPVTDKSDDS
LPMGVVVDYT NQVEITISDE KTLPPAPVLM LLSTDGVLCP FYMINQNPGV KSLIKTPERL
SLEGERQPKS PGSTPTTPTS SQAPQKLDAS AAAAPASLPP SSPAAPIATF SLLPAGGAPT
VFSFGSSSLK SSATVTGEPP SYSSGSDSSK AAPGPGPSTF SFVPPSKASL APTPAASPVA
PSAASFSFGS SGFKPTLEST PVPSVSAPNI AMKPSFPPST SAVKVNLSEK FTAAATSTPV
SSSQSAPPMS PFSSASKPAA SGPLSHPTPL SAPPSSVPLK SSVLPSPSGR SAQGSSSPVP
SMVQKSPRIT PPAAKPGSPQ AKSLQPAVAE KQGHQWKDSD PVMAGIGEEI AHFQKELEEL
KARTSKACFQ VGTSEEMKML RTESDDLHTF LLEIKETTES LHGDISSLKT TLLEGFAGVE
EAREQNERNR DSGYLHLLYK RPLDPKSEAQ LQEIRRLHQY VKFAVQDVND VLDLEWDQHL
EQKKKQRHLL VPERETLFNT LANNREIINQ QRKRLNHLVD SLQQLRLYKQ TSLWSLSSAV
PSQSSIHSFD SDLESLCNAL LKTTIESHTK SLPKVPAKLS PMKQAQLRNF LAKRKTPPVR
STAPASLSRS AFLSQRYYED LDEVSSTSSV SQSLESEDAR TSCKDDEAVV QAPRHAPVVR
TPSIQPSLLP HAAPFAKSHL VHGSSPGVMG TSVATSASKI IPQGADSTML ATKTVKHGAP
SPSHPISAPQ AAAAAALRRQ MASQAPAVNT LTESTLKNVP QVVNVQELKN NPATPSTAMG
SSVPYSTAKT PHPVLTPVAA NQAKQGSLIN SLKPSGPTPA SGQLSSGDKA SGTAKIETAV
TSTPSASGQF SKPFSFSPSG TGFNFGIITP TPSSNFTAAQ GATPSTKESS QPDAFSSGGG
SKPSYEAIPE SSPPSGITSA SNTTPGEPAA SSSRPVAPSG TALSTTSSKL ETPPSKLGEL
LFPSSLAGET LGSFSGLRVG QADDSTKPTN KASSTSLTST QPTKTSGVPS GFNFTAPPVL
GKHTEPPVTS SATTTSVAPP AATSTSSTAV FGSLPVTSAG SSGVISFGGT SLSAGKTSFS
FGSQQTNSTV PPSAPPPTTA ATPLPTSFPT LSFGSLLSSA TTPSLPMSAG RSTEEATSSA
LPEKPGDSEV SASAASLLEE QQSAQLPQAP PQTSDSVKKE PVLAQPAVSN SGTAASSTSL
VALSAEATPA TTGVPDARTE AVPPASSFSV PGQTAVTAAA ISSAGPVAVE TSSTPIASST
TSIVAPGPSA EAAAFGTVTS GSSVFAQPPA ASSSSAFNQL TNNTATAPSA TPVFGQVAAS
TAPSLFGQQT GSTASTAAAT PQVSSSGFSS PAFGTTAPGV FGQTTFGQAS VFGQSASSAA
SVFSFSQPGF SSVPAFGQPA SSTPTSTSGS VFGAASSTSS SSSFSFGQSS PNTGGGLFGQ
SNAPAFGQSP GFGQGGSVFG GTSAATTTAA TSGFSFCQAS GFGSSNTGSV FGQAASTGGI
VFGQQSSSSS GSVFGSGNTG RGGGFFSGLG GKPSQDAANK NPFSSASGGF GSTATSNTSN
LFGNSGAKTF GGFASSSFGE QKPTGTFSSG GGSVASQGFG FSSPNKTGGF GAAPVFGSPP
TFGGSPGFGG VPAFGSAPAF TSPLGSTGGK VFGEGTAAAS AGGFGFGSSS NTTSFGTLAS
QNAPTFGSLS QQTSGFGTQS SGFSGFGSGT GGFSFGSNNS SVQGFGGWRS *
mutated AA sequence MGDEMDAMIP EREMKDFQFR ALKKVRIFDS PEELPKERSS LLAVSNKYGL VFAGGASGLQ
IFPTKNLLIQ NKPGDDPNKI VDKVQGLLVP MKFPIHHLAL SCDNLTLSAC MMSSEYGSII
AFFDVRTFSN EAKQQKRPFA YHKLLKDAGG MVIDMKWNPT VPSMVAVCLA DGSIAVLQVT
ETVKVCATLP STVAVTSVCW SPKGKQLAVG KQNGTVVQYL PTLQEKKVIP CPPFYESDHP
VRVLDVLWIG TYVFAIVYAA ADGTLETSPD VVMALLPKKE EKHPEIFVNF MEPCYGSCTE
RQHHYYLSYI EEWDLVLAAS AASTEVSILA RQSDQINWES WLLEDSSRAE LPVTDKSDDS
LPMGVVVDYT NQVEITISDE KTLPPAPVLM LLSTDGVLCP FYMINQNPGV KSLIKTPERL
SLEGERQPKS PGSTPTTPTS SQAPQKLDAS AAAAPASLPP SSPAAPIATF SLLPAGGAPT
VFSFGSSSLK SSATVTGEPP SYSSGSDSSK AAPGPGPSTF SFVPPSKASL APTPAASPVA
PSAASFSFGS SGFKPTLEST PVPSVSAPNI AMKSSFPPST SAVKVNLSEK FTAAATSTPV
SSSQSAPPMS PFSSASKPAA SGPLSHPTPL SAPPSSVPLK SSVLPSPSGR SAQGSSSPVP
SMVQKSPRIT PPAAKPGSPQ AKSLQPAVAE KQGHQWKDSD PVMAGIGEEI AHFQKELEEL
KARTSKACFQ VGTSEEMKML RTESDDLHTF LLEIKETTES LHGDISSLKT TLLEGFAGVE
EAREQNERNR DSGYLHLLYK RPLDPKSEAQ LQEIRRLHQY VKFAVQDVND VLDLEWDQHL
EQKKKQRHLL VPERETLFNT LANNREIINQ QRKRLNHLVD SLQQLRLYKQ TSLWSLSSAV
PSQSSIHSFD SDLESLCNAL LKTTIESHTK SLPKVPAKLS PMKQAQLRNF LAKRKTPPVR
STAPASLSRS AFLSQRYYED LDEVSSTSSV SQSLESEDAR TSCKDDEAVV QAPRHAPVVR
TPSIQPSLLP HAAPFAKSHL VHGSSPGVMG TSVATSASKI IPQGADSTML ATKTVKHGAP
SPSHPISAPQ AAAAAALRRQ MASQAPAVNT LTESTLKNVP QVVNVQELKN NPATPSTAMG
SSVPYSTAKT PHPVLTPVAA NQAKQGSLIN SLKPSGPTPA SGQLSSGDKA SGTAKIETAV
TSTPSASGQF SKPFSFSPSG TGFNFGIITP TPSSNFTAAQ GATPSTKESS QPDAFSSGGG
SKPSYEAIPE SSPPSGITSA SNTTPGEPAA SSSRPVAPSG TALSTTSSKL ETPPSKLGEL
LFPSSLAGET LGSFSGLRVG QADDSTKPTN KASSTSLTST QPTKTSGVPS GFNFTAPPVL
GKHTEPPVTS SATTTSVAPP AATSTSSTAV FGSLPVTSAG SSGVISFGGT SLSAGKTSFS
FGSQQTNSTV PPSAPPPTTA ATPLPTSFPT LSFGSLLSSA TTPSLPMSAG RSTEEATSSA
LPEKPGDSEV SASAASLLEE QQSAQLPQAP PQTSDSVKKE PVLAQPAVSN SGTAASSTSL
VALSAEATPA TTGVPDARTE AVPPASSFSV PGQTAVTAAA ISSAGPVAVE TSSTPIASST
TSIVAPGPSA EAAAFGTVTS GSSVFAQPPA ASSSSAFNQL TNNTATAPSA TPVFGQVAAS
TAPSLFGQQT GSTASTAAAT PQVSSSGFSS PAFGTTAPGV FGQTTFGQAS VFGQSASSAA
SVFSFSQPGF SSVPAFGQPA SSTPTSTSGS VFGAASSTSS SSSFSFGQSS PNTGGGLFGQ
SNAPAFGQSP GFGQGGSVFG GTSAATTTAA TSGFSFCQAS GFGSSNTGSV FGQAASTGGI
VFGQQSSSSS GSVFGSGNTG RGGGFFSGLG GKPSQDAANK NPFSSASGGF GSTATSNTSN
LFGNSGAKTF GGFASSSFGE QKPTGTFSSG GGSVASQGFG FSSPNKTGGF GAAPVFGSPP
TFGGSPGFGG VPAFGSAPAF TSPLGSTGGK VFGEGTAAAS AGGFGFGSSS NTTSFGTLAS
QNAPTFGSLS QQTSGFGTQS SGFSGFGSGT GGFSFGSNNS SVQGFGGWRS *
speed 1.40 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

polymorphism

 Model: simple_aae, prob: 0.509319301403225 (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) chr9:134020092C>TN/A show variant in all transcripts   IGV
HGNC symbol NUP214
Ensembl transcript ID ENST00000451030
Genbank transcript ID N/A
UniProt peptide P35658
alteration type single base exchange
alteration region CDS
DNA changes c.1720C>T
cDNA.1831C>T
g.19145C>T
AA changes P574S Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 574
frameshift no
known variant Reference ID: rs103612
databasehomozygous (T/T)heterozygousallele carriers
1000G102111732194
ExAC26812-208575955
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)3.4660.972
0.5750.676
(flanking)0.8550.463
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased19138wt: 0.9924 / mu: 0.9960 (marginal change - not scored)wt: ATAGCAATGAAGCCC
mu: ATAGCAATGAAGTCC		 AGCA|atga
Acc gained191550.31mu: AGCAATGAAGTCCTCCTTCCCACCCTCAACCTCTGCTGTCA tccc|ACCC
distance from splice site 50
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      574PSVSAPNIAMKPSFPPSTSAVKVN
mutated  not conserved    574PSVSAPNIAMKSSFPPSTSAVKV
Ptroglodytes  all identical  ENSPTRG00000021482  871STEEATSSALPEKPGDSEVSASAASLLEEQQSAQLPQAPPQTSDSVKKEPVLAQPAVSNS
Mmulatta  all identical  ENSMMUG00000021724  574PSMSAPNIAVKPSFPPSTSAVKV
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000001855  572S--STPNTGMKPSFPPSASSVKV
Ggallus  not conserved  ENSGALG00000003830  567PHSTAP-AAQKSSFAPSASSVKV
Trubripes  not conserved  ENSTRUG00000007589  569PAATASLPSLQSIAAPSPPTIKL
Drerio  not conserved  ENSDARG00000016212  573PPTSSSGFSF--SLPPLSSAAPPAF
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000001475  582------QAATAPVFTPTPSTVKM
protein features
start (aa)end (aa)featuredetails 
4812076REGION11 X 5 AA approximate repeats.lost
646646MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
651651MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
655655MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
657657MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
666666MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
670670MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
678678MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
740768REGIONLeucine-zipper 1.might get lost (downstream of altered splice site)
812813SITEBreakpoint.might get lost (downstream of altered splice site)
861882REGIONLeucine-zipper 2.might get lost (downstream of altered splice site)
940940MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
970970MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
974974MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
985985MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
987987MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
989989MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10811081MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10911092CONFLICTAA -> QL (in Ref. 1; CAA45535).might get lost (downstream of altered splice site)
11361136MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11561156MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
11811181MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12031203MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
12132090COMPBIASPro/Ser/Thr-rich.might get lost (downstream of altered splice site)
13121312MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
13331333MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13561356MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14092084REGION18 X 4 AA approximate repeats.might get lost (downstream of altered splice site)
14272085REGION11 X 3 AA approximate repeats.might get lost (downstream of altered splice site)
18721872CONFLICTS -> N (in Ref. 5; AAH45620).might get lost (downstream of altered splice site)
19631963MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 6276 / 6276
position (AA) of stopcodon in wt / mu AA sequence 2092 / 2092
position of stopcodon in wt / mu cDNA 6387 / 6387
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 112 / 112
chromosome 9
strand 1
last intron/exon boundary 6354
theoretical NMD boundary in CDS 6192
length of CDS 6276
coding sequence (CDS) position 1720
cDNA position
(for ins/del: last normal base / first normal base)		 1831
gDNA position
(for ins/del: last normal base / first normal base)		 19145
chromosomal position
(for ins/del: last normal base / first normal base)		 134020092
original gDNA sequence snippet CTCCAAATATAGCAATGAAGCCCTCCTTCCCACCCTCAACC
altered gDNA sequence snippet CTCCAAATATAGCAATGAAGTCCTCCTTCCCACCCTCAACC
original cDNA sequence snippet CTCCAAATATAGCAATGAAGCCCTCCTTCCCACCCTCAACC
altered cDNA sequence snippet CTCCAAATATAGCAATGAAGTCCTCCTTCCCACCCTCAACC
wildtype AA sequence MGDEMDAMIP EREMKDFQFR ALKKVRIFDS PEELPKERSS LLAVSNKYGL VFAGGASGLQ
IFPTKNLLIQ NKPGDDPNKI VDKVQGLLVP MKFPIHHLAL SCDNLTLSAC MMSSEYGSII
AFFDVRTFSN EAKQQKRPFA YHKLLKDAGG MVIDMKWNPT VPSMVAVCLA DGSIAVLQVT
ETVKVCATLP STVAVTSVCW SPKGKQLAVG KQNGTVVQYL PTLQEKKVIP CPPFYESDHP
VRVLDVLWIG TYVFAIVYAA ADGTLETSPD VVMALLPKKE EKHPEIFVNF MEPCYGSCTE
RQHHYYLSYI EEWDLVLAAS AASTEVSILA RQSDQINWES WLLEDSSRAE LPVTDKSDDS
LPMGVVVDYT NQVEITISDE KTLPPAPVLM LLSTDGVLCP FYMINQNPGV KSLIKTPERL
SLEGERQPKS PGSTPTTPTS SQAPQKLDAS AAAAPASLPP SSPAAPIATF SLLPAGGAPT
VFSFGSSSLK SSATVTGEPP SYSSGSDSSK AAPGPGPSTF SFVPPSKASL APTPAASPVA
PSAASFSFGS SGFKPTLEST PVPSVSAPNI AMKPSFPPST SAVKVNLSEK FTAAATSTPV
SSSQSAPPMS PFSSASKPAA SGPLSHPTPL SAPPSSVPLK SSVLPSPSAG RSAQGSSSPV
PSMVQKSPRI TPPAAKPGSP QAKSLQPAVA EKQGHQWKDS DPVMAGIGEE IAHFQKELEE
LKARTSKACF QVGTSEEMKM LRTESDDLHT FLLEIKETTE SLHGDISSLK TTLLEGFAGV
EEAREQNERN RDSGYLHLLY KRPLDPKSEA QLQEIRRLHQ YVKFAVQDVN DVLDLEWDQH
LEQKKKQRHL LVPERETLFN TLANNREIIN QQRKRLNHLV DSLQQLRLYK QTSLWSLSSA
VPSQSSIHSF DSDLESLCNA LLKTTIESHT KSLPKVPAKL SPMKQAQLRN FLAKRKTPPV
RSTAPASLSR SAFLSQRYYE DLDEVSSTSS VSQSLESEDA RTSCKDDEAV VQAPRHAPVV
RTPSIQPSLL PHAAPFAKSH LVHGSSPGVM GTSVATSASK IIPQGADSTM LATKTVKHGA
PSPSHPISAP QAAAAAALRR QMASQAPAVN TLTESTLKNV PQVVNVQELK NNPATPSTAM
GSSVPYSTAK TPHPVLTPVA ANQAKQGSLI NSLKPSGPTP ASGQLSSGDK ASGTAKIETA
VTSTPSASGQ FSKPFSFSPS GTGFNFGIIT PTPSSNFTAA QGATPSTKES SQPDAFSSGG
GSKPSYEAIP ESSPPSGITS ASNTTPGEPA ASSSRPVAPS GTALSTTSSK LETPPSKLGE
LLFPSSLAGE TLGSFSGLRV GQADDSTKPT NKASSTSLTS TQPTKTSGVP SGFNFTAPPV
LGKHTEPPVT SSATTTSVAP PAATSTSSTA VFGSLPVTSA GSSGVISFGG TSLSAGKTSF
SFGSQQTNST VPPSAPPPTT AATPLPTSFP TLSFGSLLSS ATTPSLPMSA GRSTEEATSS
ALPEKPGDSE VSASAASLLE EQQSAQLPQA PPQTSDSVKK EPVLAQPAVS NSGTAASSTS
LVALSAEATP ATTGVPDART EAVPPASSFS VPGQTAVTAA AISSAGPVAV ETSSTPIASS
TTSIVAPGPS AEAAAFGTVT SGSSVFAQPP AASSSSAFNQ LTNNTATAPS ATPVFGQVAA
STAPSLFGQQ TGSTASTAAA TPQVSSSGFS SPAFGTTAPG VFGQTTFGQA SVFGQSASSA
ASVFSFSQPG FSSVPAFGQP ASSTPTSTSG SVFGAASSTS SSSSFSFGQS SPNTGGGLFG
QSNAPAFGQS PGFGQGGSVF GGTSAATTTA ATSGFSFCQA SGFGSSNTGS VFGQAASTGG
IVFGQQSSSS SGSVFGSGNT GRGGGFFSGL GGKPSQDAAN KNPFSSASGG FGSTATSNTS
NLFGNSGAKT FGGFASSSFG EQKPTGTFSS GGGSVASQGF GFSSPNKTGG FGAAPVFGSP
PTFGGSPGFG GVPAFGSAPA FTSPLGSTGG KVFGEGTAAA SAGGFGFGSS SNTTSFGTLA
SQNAPTFGSL SQQTSGFGTQ SSGFSGFGSG TGGFSFGSNN SSVQGFGGWR S*
mutated AA sequence MGDEMDAMIP EREMKDFQFR ALKKVRIFDS PEELPKERSS LLAVSNKYGL VFAGGASGLQ
IFPTKNLLIQ NKPGDDPNKI VDKVQGLLVP MKFPIHHLAL SCDNLTLSAC MMSSEYGSII
AFFDVRTFSN EAKQQKRPFA YHKLLKDAGG MVIDMKWNPT VPSMVAVCLA DGSIAVLQVT
ETVKVCATLP STVAVTSVCW SPKGKQLAVG KQNGTVVQYL PTLQEKKVIP CPPFYESDHP
VRVLDVLWIG TYVFAIVYAA ADGTLETSPD VVMALLPKKE EKHPEIFVNF MEPCYGSCTE
RQHHYYLSYI EEWDLVLAAS AASTEVSILA RQSDQINWES WLLEDSSRAE LPVTDKSDDS
LPMGVVVDYT NQVEITISDE KTLPPAPVLM LLSTDGVLCP FYMINQNPGV KSLIKTPERL
SLEGERQPKS PGSTPTTPTS SQAPQKLDAS AAAAPASLPP SSPAAPIATF SLLPAGGAPT
VFSFGSSSLK SSATVTGEPP SYSSGSDSSK AAPGPGPSTF SFVPPSKASL APTPAASPVA
PSAASFSFGS SGFKPTLEST PVPSVSAPNI AMKSSFPPST SAVKVNLSEK FTAAATSTPV
SSSQSAPPMS PFSSASKPAA SGPLSHPTPL SAPPSSVPLK SSVLPSPSAG RSAQGSSSPV
PSMVQKSPRI TPPAAKPGSP QAKSLQPAVA EKQGHQWKDS DPVMAGIGEE IAHFQKELEE
LKARTSKACF QVGTSEEMKM LRTESDDLHT FLLEIKETTE SLHGDISSLK TTLLEGFAGV
EEAREQNERN RDSGYLHLLY KRPLDPKSEA QLQEIRRLHQ YVKFAVQDVN DVLDLEWDQH
LEQKKKQRHL LVPERETLFN TLANNREIIN QQRKRLNHLV DSLQQLRLYK QTSLWSLSSA
VPSQSSIHSF DSDLESLCNA LLKTTIESHT KSLPKVPAKL SPMKQAQLRN FLAKRKTPPV
RSTAPASLSR SAFLSQRYYE DLDEVSSTSS VSQSLESEDA RTSCKDDEAV VQAPRHAPVV
RTPSIQPSLL PHAAPFAKSH LVHGSSPGVM GTSVATSASK IIPQGADSTM LATKTVKHGA
PSPSHPISAP QAAAAAALRR QMASQAPAVN TLTESTLKNV PQVVNVQELK NNPATPSTAM
GSSVPYSTAK TPHPVLTPVA ANQAKQGSLI NSLKPSGPTP ASGQLSSGDK ASGTAKIETA
VTSTPSASGQ FSKPFSFSPS GTGFNFGIIT PTPSSNFTAA QGATPSTKES SQPDAFSSGG
GSKPSYEAIP ESSPPSGITS ASNTTPGEPA ASSSRPVAPS GTALSTTSSK LETPPSKLGE
LLFPSSLAGE TLGSFSGLRV GQADDSTKPT NKASSTSLTS TQPTKTSGVP SGFNFTAPPV
LGKHTEPPVT SSATTTSVAP PAATSTSSTA VFGSLPVTSA GSSGVISFGG TSLSAGKTSF
SFGSQQTNST VPPSAPPPTT AATPLPTSFP TLSFGSLLSS ATTPSLPMSA GRSTEEATSS
ALPEKPGDSE VSASAASLLE EQQSAQLPQA PPQTSDSVKK EPVLAQPAVS NSGTAASSTS
LVALSAEATP ATTGVPDART EAVPPASSFS VPGQTAVTAA AISSAGPVAV ETSSTPIASS
TTSIVAPGPS AEAAAFGTVT SGSSVFAQPP AASSSSAFNQ LTNNTATAPS ATPVFGQVAA
STAPSLFGQQ TGSTASTAAA TPQVSSSGFS SPAFGTTAPG VFGQTTFGQA SVFGQSASSA
ASVFSFSQPG FSSVPAFGQP ASSTPTSTSG SVFGAASSTS SSSSFSFGQS SPNTGGGLFG
QSNAPAFGQS PGFGQGGSVF GGTSAATTTA ATSGFSFCQA SGFGSSNTGS VFGQAASTGG
IVFGQQSSSS SGSVFGSGNT GRGGGFFSGL GGKPSQDAAN KNPFSSASGG FGSTATSNTS
NLFGNSGAKT FGGFASSSFG EQKPTGTFSS GGGSVASQGF GFSSPNKTGG FGAAPVFGSP
PTFGGSPGFG GVPAFGSAPA FTSPLGSTGG KVFGEGTAAA SAGGFGFGSS SNTTSFGTLA
SQNAPTFGSL SQQTSGFGTQ SSGFSGFGSG TGGFSFGSNN SSVQGFGGWR S*
speed 1.34 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

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