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: ENST00000552462
Querying Taster for transcript #2: ENST00000257934
MT speed 0 s - this script 3.43522 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ESPL1polymorphism_automatic0.054445365619865simple_aaeaffectedS614Rsingle base exchangers1318648show file
ESPL1polymorphism_automatic0.054445365619865simple_aaeaffectedS614Rsingle base exchangers1318648show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.945554634380135 (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) chr12:53670545C>AN/A show variant in all transcripts   IGV
HGNC symbol ESPL1
Ensembl transcript ID ENST00000552462
Genbank transcript ID N/A
UniProt peptide Q14674
alteration type single base exchange
alteration region CDS
DNA changes c.1842C>A
cDNA.1926C>A
g.8463C>A
AA changes S614R Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 614
frameshift no
known variant Reference ID: rs1318648
databasehomozygous (A/A)heterozygousallele carriers
1000G105010712121
ExAC26150-195336617
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.021
0.4580.99
(flanking)1.4360.988
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 increased8453wt: 0.7080 / mu: 0.7147 (marginal change - not scored)wt: CAACATCATCTGTGACCTCCTGGAGCTGAGCCCCGAGGAGA
mu: CAACATCATCTGTGACCTCCTGGAGCTGAGACCCGAGGAGA		 tcct|GGAG
Donor marginally increased8466wt: 0.9947 / mu: 0.9948 (marginal change - not scored)wt: AGCCCCGAGGAGACA
mu: AGACCCGAGGAGACA		 CCCC|gagg
Donor increased8463wt: 0.58 / mu: 0.91wt: CTGAGCCCCGAGGAG
mu: CTGAGACCCGAGGAG		 GAGC|cccg
distance from splice site 99
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      614RFNIICDLLELSPEETPAGAWARA
mutated  not conserved    614RFNIICDLLELRPEETPAGAWAR
Ptroglodytes  all identical  ENSPTRG00000005009  613RFNIICDLLELSPEETPAGAWAR
Mmulatta  all identical  ENSMMUG00000022021  289RFNIICDLLELSPEETPAGAWAR
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000058290  609RFNIICDLLELSPEETAAGAWAR
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000006657  608RYNTLCDLLEICHEES-SHSHLR
Drerio  not conserved  ENSDARG00000075354  596RYNTLCDLLEICHEETPH-TLRR
Dmelanogaster  no alignment  FBgn0035627  n/a
Celegans  no alignment  Y47G6A.12  n/a
Xtropicalis  not conserved  ENSXETG00000012668  622RYNTICDLLELCHEDSDLRGH-R
protein features
start (aa)end (aa)featuredetails 
693693CONFLICTM -> I (in Ref. 1; AAR18247 and 2; BAA11482).might get lost (downstream of altered splice site)
11261126MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11261126MUTAGENS->A: Abolishes phosphorylation at this site, as well as the negative regulation due to phosphorylation.might get lost (downstream of altered splice site)
13291329CONFLICTR -> S (in Ref. 1; AAR18247 and 2; BAA11482).might get lost (downstream of altered splice site)
13961396MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13991399MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14831486MUTAGENEIMR->RIME: Abolishes autocleavage; when associated with R-1178; E-1181; R-1207 and E-1210. Does not affect the protease function.might get lost (downstream of altered splice site)
14861486MUTAGENR->A: Abolishes autocleavage; when associated with A-1181 and A-1210.might get lost (downstream of altered splice site)
15031506MUTAGENEILR->RILE: Does not affect autocleavage. Does not affect the protease function.might get lost (downstream of altered splice site)
15061506MUTAGENR->A: Abolishes autocleavage; when associated with A-1161 and A-1210.might get lost (downstream of altered splice site)
15061507SITECleavage; by autolysis.might get lost (downstream of altered splice site)
15081508MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15321535MUTAGENELLR->RLLE: Strongly reduces autocleavage at this site, but enhances autocleavage at site 1. Does not affect the protease function.might get lost (downstream of altered splice site)
15351535MUTAGENR->A: Abolishes autocleavage; when associated with A-1161 and A-1281.might get lost (downstream of altered splice site)
15351536SITECleavage; by autolysis.might get lost (downstream of altered splice site)
15611561CONFLICTR -> Q (in Ref. 1; AAR18247 and 2; BAA11482).might get lost (downstream of altered splice site)
20292029ACT_SITEmight get lost (downstream of altered splice site)
20292029MUTAGENC->A: Abolishes protease activity.might get lost (downstream of altered splice site)
20372037CONFLICTR -> H (in Ref. 1; AAR18247 and 2; BAA11482).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 6363 / 6363
position (AA) of stopcodon in wt / mu AA sequence 2121 / 2121
position of stopcodon in wt / mu cDNA 6447 / 6447
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 85 / 85
chromosome 12
strand 1
last intron/exon boundary 6246
theoretical NMD boundary in CDS 6111
length of CDS 6363
coding sequence (CDS) position 1842
cDNA position
(for ins/del: last normal base / first normal base)		 1926
gDNA position
(for ins/del: last normal base / first normal base)		 8463
chromosomal position
(for ins/del: last normal base / first normal base)		 53670545
original gDNA sequence snippet TGTGACCTCCTGGAGCTGAGCCCCGAGGAGACACCAGCCGG
altered gDNA sequence snippet TGTGACCTCCTGGAGCTGAGACCCGAGGAGACACCAGCCGG
original cDNA sequence snippet TGTGACCTCCTGGAGCTGAGCCCCGAGGAGACACCAGCCGG
altered cDNA sequence snippet TGTGACCTCCTGGAGCTGAGACCCGAGGAGACACCAGCCGG
wildtype AA sequence MRSFKRVNFG TLLSSQKEAE ELLPALKEFL SNPPAGFPSS RSDAERRQAC DAILRACNQQ
LTAKLACPRH LGSLLELAEL ACDGYLVSTP QRPPLYLERI LFVLLRNAAA QGSPEATLRL
AQPLHACLVQ CSREAAPQDY EAVARGSFSL LWKGAEALLE RRAAFAARLK ALSFLVLLED
ESTPCEVPHF ASPTACRAVA AHQLFDASGH GLNEADADFL DDLLSRHVIR ALVGERGSSS
GLLSPQRALC LLELTLEHCR RFCWSRHHDK AISAVEKAHS YLRNTNLAPS LQLCQLGVKL
LQVGEEGPQA VAKLLIKASA VLSKSMEAPS PPLRALYESC QFFLSGLERG TKRRYRLDAI
LSLFAFLGGY CSLLQQLRDD GVYGGSSKQQ QSFLQMYFQG LHLYTVVVYD FAQGCQIVDL
ADLTQLVDSC KSTVVWMLEA LEGLSGQELT DHMGMTASYT SNLAYSFYSH KLYAEACAIS
EPLCQHLGLV KPGTYPEVPP EKLHRCFRLQ VESLKKLGKQ AQGCKMVILW LAALQPCSPE
HMAEPVTFWV RVKMDAARAG DKELQLKTLR DSLSGWDPET LALLLREELQ AYKAVRADTG
QERFNIICDL LELSPEETPA GAWARATHLV ELAQVLCYHD FTQQTNCSAL DAIREALQLL
DSVRPEAQAR DQLLDDKAQA LLWLYICTLE AKMQEGIERD RRAQAPGNLE EFEVNDLNYE
DKLQEDRFLY SNIAFNLAAD AAQSKCLDQA LALWKELLTK GQAPAVRCLQ QTAASLQILA
ALYQLVAKPM QALEVLLLLR IVSERLKDHS KAAGSSCHIT QLLLTLGCPS YAQLHLEEAA
SSLKHLDQTT DTYLLLSLTC DLLRSQLYWT HQKVTKGVSL LLSVLRDPAL QKSSKAWYLL
RVQVLQLVAA YLSLPSNNLS HSLWEQLCAQ GWQTPEIALI DSHKLLRSII LLLMGSDILS
TQKAAVETSF LDYGENLVQK WQVLSEVLSC SEKLVCHLGR LGSVSEAKAF CLEALKLTTK
LQIPRQCALF LVLKGELELA RNDIDLCQSD LQQVLFLLES CTEFGGVTQH LDSVKKVHLQ
KGKQQAQVPC PPQLPEEELF LRGPALELVA TVAKEPGPIA PSTNSSPVLK TKPQPIPNFL
SHSPTCDCSL CASPVLTAVC LRWVLVTAGV RLAMGHQAQG LDLLQVVLKG CPEAAERLTQ
ALQASLNHKT PPSLVPSLLD EILAQAYTLL ALEGLNQPSN ESLQKVLQSG LKFVAARIPH
LEPWRASLLL IWALTKLGGL SCCTTQLFAS SWGWQPPLIK SVPGSEPSKT QGQKRSGRGR
QKLASAPLRL NNTSQKGLEG RGLPCTPKPP DRIRQAGPHV PFTVFEEVCP TESKPEVPQA
PRVQQRVQTR LKVNFSDDSD LEDPVSAEAW LAEEPKRRGT ASRGRGRARK GLSLKTDAVV
APGSAPGNPG LNGRSRRAKK VASRHCEERR PQRASDQARP GPEIMRTIPE EELTDNWRKM
SFEILRGSDG EDSASGGKTP APGPEAASGE WELLRLDSSK KKLPSPCPDK ESDKDLGPRL
RLPSAPVATG LSTLDSICDS LSVAFRGISH CPPSGLYAHL CRFLALCLGH RDPYATAFLV
TESVSITCRH QLLTHLHRQL SKAQKHRGSL EIADQLQGLS LQEMPGDVPL ARIQRLFSFR
ALESGHFPQP EKESFQERLA LIPSGVTVCV LALATLQPGT VGNTLLLTRL EKDSPPVSVQ
IPTGQNKLHL RSVLNEFDAI QKAQKENSSC TDKREWWTGR LALDHRMEVL IASLEKSVLG
CWKGLLLPSS EEPGPAQEAS RLQELLQDCG WKYPDRTLLK IMLSGAGALT PQDIQALAYG
LCPTQPERAQ ELLNEAVGRL QGLTVPSNSH LVLVLDKDLQ KLPWESMPSL QALPVTRLPS
FRFLLSYSII KEYGASPVLS QGVDPRSTFY VLNPHNNLSS TEEQFRANFS SEAGWRGVVG
EVPRPEQVQE ALTKHDLYIY AGHGAGARFL DGQAVLRLSC RAVALLFGCS SAALAVRGNL
EGAGIVLKYI MAGCPLFLGN LWDVTDRDID RYTEALLQGW LGAGPGAPLL YYVNQARQAP
RLKYLIGAAP IAYGLPVSLR *
mutated AA sequence MRSFKRVNFG TLLSSQKEAE ELLPALKEFL SNPPAGFPSS RSDAERRQAC DAILRACNQQ
LTAKLACPRH LGSLLELAEL ACDGYLVSTP QRPPLYLERI LFVLLRNAAA QGSPEATLRL
AQPLHACLVQ CSREAAPQDY EAVARGSFSL LWKGAEALLE RRAAFAARLK ALSFLVLLED
ESTPCEVPHF ASPTACRAVA AHQLFDASGH GLNEADADFL DDLLSRHVIR ALVGERGSSS
GLLSPQRALC LLELTLEHCR RFCWSRHHDK AISAVEKAHS YLRNTNLAPS LQLCQLGVKL
LQVGEEGPQA VAKLLIKASA VLSKSMEAPS PPLRALYESC QFFLSGLERG TKRRYRLDAI
LSLFAFLGGY CSLLQQLRDD GVYGGSSKQQ QSFLQMYFQG LHLYTVVVYD FAQGCQIVDL
ADLTQLVDSC KSTVVWMLEA LEGLSGQELT DHMGMTASYT SNLAYSFYSH KLYAEACAIS
EPLCQHLGLV KPGTYPEVPP EKLHRCFRLQ VESLKKLGKQ AQGCKMVILW LAALQPCSPE
HMAEPVTFWV RVKMDAARAG DKELQLKTLR DSLSGWDPET LALLLREELQ AYKAVRADTG
QERFNIICDL LELRPEETPA GAWARATHLV ELAQVLCYHD FTQQTNCSAL DAIREALQLL
DSVRPEAQAR DQLLDDKAQA LLWLYICTLE AKMQEGIERD RRAQAPGNLE EFEVNDLNYE
DKLQEDRFLY SNIAFNLAAD AAQSKCLDQA LALWKELLTK GQAPAVRCLQ QTAASLQILA
ALYQLVAKPM QALEVLLLLR IVSERLKDHS KAAGSSCHIT QLLLTLGCPS YAQLHLEEAA
SSLKHLDQTT DTYLLLSLTC DLLRSQLYWT HQKVTKGVSL LLSVLRDPAL QKSSKAWYLL
RVQVLQLVAA YLSLPSNNLS HSLWEQLCAQ GWQTPEIALI DSHKLLRSII LLLMGSDILS
TQKAAVETSF LDYGENLVQK WQVLSEVLSC SEKLVCHLGR LGSVSEAKAF CLEALKLTTK
LQIPRQCALF LVLKGELELA RNDIDLCQSD LQQVLFLLES CTEFGGVTQH LDSVKKVHLQ
KGKQQAQVPC PPQLPEEELF LRGPALELVA TVAKEPGPIA PSTNSSPVLK TKPQPIPNFL
SHSPTCDCSL CASPVLTAVC LRWVLVTAGV RLAMGHQAQG LDLLQVVLKG CPEAAERLTQ
ALQASLNHKT PPSLVPSLLD EILAQAYTLL ALEGLNQPSN ESLQKVLQSG LKFVAARIPH
LEPWRASLLL IWALTKLGGL SCCTTQLFAS SWGWQPPLIK SVPGSEPSKT QGQKRSGRGR
QKLASAPLRL NNTSQKGLEG RGLPCTPKPP DRIRQAGPHV PFTVFEEVCP TESKPEVPQA
PRVQQRVQTR LKVNFSDDSD LEDPVSAEAW LAEEPKRRGT ASRGRGRARK GLSLKTDAVV
APGSAPGNPG LNGRSRRAKK VASRHCEERR PQRASDQARP GPEIMRTIPE EELTDNWRKM
SFEILRGSDG EDSASGGKTP APGPEAASGE WELLRLDSSK KKLPSPCPDK ESDKDLGPRL
RLPSAPVATG LSTLDSICDS LSVAFRGISH CPPSGLYAHL CRFLALCLGH RDPYATAFLV
TESVSITCRH QLLTHLHRQL SKAQKHRGSL EIADQLQGLS LQEMPGDVPL ARIQRLFSFR
ALESGHFPQP EKESFQERLA LIPSGVTVCV LALATLQPGT VGNTLLLTRL EKDSPPVSVQ
IPTGQNKLHL RSVLNEFDAI QKAQKENSSC TDKREWWTGR LALDHRMEVL IASLEKSVLG
CWKGLLLPSS EEPGPAQEAS RLQELLQDCG WKYPDRTLLK IMLSGAGALT PQDIQALAYG
LCPTQPERAQ ELLNEAVGRL QGLTVPSNSH LVLVLDKDLQ KLPWESMPSL QALPVTRLPS
FRFLLSYSII KEYGASPVLS QGVDPRSTFY VLNPHNNLSS TEEQFRANFS SEAGWRGVVG
EVPRPEQVQE ALTKHDLYIY AGHGAGARFL DGQAVLRLSC RAVALLFGCS SAALAVRGNL
EGAGIVLKYI MAGCPLFLGN LWDVTDRDID RYTEALLQGW LGAGPGAPLL YYVNQARQAP
RLKYLIGAAP IAYGLPVSLR *
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: simple_aae, prob: 0.945554634380135 (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) chr12:53670545C>AN/A show variant in all transcripts   IGV
HGNC symbol ESPL1
Ensembl transcript ID ENST00000257934
Genbank transcript ID NM_012291
UniProt peptide Q14674
alteration type single base exchange
alteration region CDS
DNA changes c.1842C>A
cDNA.1933C>A
g.8463C>A
AA changes S614R Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 614
frameshift no
known variant Reference ID: rs1318648
databasehomozygous (A/A)heterozygousallele carriers
1000G105010712121
ExAC26150-195336617
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.021
0.4580.99
(flanking)1.4360.988
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 increased8453wt: 0.7080 / mu: 0.7147 (marginal change - not scored)wt: CAACATCATCTGTGACCTCCTGGAGCTGAGCCCCGAGGAGA
mu: CAACATCATCTGTGACCTCCTGGAGCTGAGACCCGAGGAGA		 tcct|GGAG
Donor marginally increased8466wt: 0.9947 / mu: 0.9948 (marginal change - not scored)wt: AGCCCCGAGGAGACA
mu: AGACCCGAGGAGACA		 CCCC|gagg
Donor increased8463wt: 0.58 / mu: 0.91wt: CTGAGCCCCGAGGAG
mu: CTGAGACCCGAGGAG		 GAGC|cccg
distance from splice site 99
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      614RFNIICDLLELSPEETPAGAWARA
mutated  not conserved    614RFNIICDLLELRPEETPAGAWAR
Ptroglodytes  all identical  ENSPTRG00000005009  613RFNIICDLLELSPEETPAGAWAR
Mmulatta  all identical  ENSMMUG00000022021  289RFNIICDLLELSPEETPAGAWAR
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000058290  609RFNIICDLLELSPEETAAGAWAR
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000006657  608RYNTLCDLLEICHEES-SHSHLR
Drerio  not conserved  ENSDARG00000075354  596RYNTLCDLLEICHEETPH-TLRR
Dmelanogaster  no alignment  FBgn0035627  n/a
Celegans  no alignment  Y47G6A.12  n/a
Xtropicalis  not conserved  ENSXETG00000012668  622RYNTICDLLELCHEDSDLRGH-R
protein features
start (aa)end (aa)featuredetails 
693693CONFLICTM -> I (in Ref. 1; AAR18247 and 2; BAA11482).might get lost (downstream of altered splice site)
11261126MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11261126MUTAGENS->A: Abolishes phosphorylation at this site, as well as the negative regulation due to phosphorylation.might get lost (downstream of altered splice site)
13291329CONFLICTR -> S (in Ref. 1; AAR18247 and 2; BAA11482).might get lost (downstream of altered splice site)
13961396MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13991399MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14831486MUTAGENEIMR->RIME: Abolishes autocleavage; when associated with R-1178; E-1181; R-1207 and E-1210. Does not affect the protease function.might get lost (downstream of altered splice site)
14861486MUTAGENR->A: Abolishes autocleavage; when associated with A-1181 and A-1210.might get lost (downstream of altered splice site)
15031506MUTAGENEILR->RILE: Does not affect autocleavage. Does not affect the protease function.might get lost (downstream of altered splice site)
15061506MUTAGENR->A: Abolishes autocleavage; when associated with A-1161 and A-1210.might get lost (downstream of altered splice site)
15061507SITECleavage; by autolysis.might get lost (downstream of altered splice site)
15081508MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15321535MUTAGENELLR->RLLE: Strongly reduces autocleavage at this site, but enhances autocleavage at site 1. Does not affect the protease function.might get lost (downstream of altered splice site)
15351535MUTAGENR->A: Abolishes autocleavage; when associated with A-1161 and A-1281.might get lost (downstream of altered splice site)
15351536SITECleavage; by autolysis.might get lost (downstream of altered splice site)
15611561CONFLICTR -> Q (in Ref. 1; AAR18247 and 2; BAA11482).might get lost (downstream of altered splice site)
20292029ACT_SITEmight get lost (downstream of altered splice site)
20292029MUTAGENC->A: Abolishes protease activity.might get lost (downstream of altered splice site)
20372037CONFLICTR -> H (in Ref. 1; AAR18247 and 2; BAA11482).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 6363 / 6363
position (AA) of stopcodon in wt / mu AA sequence 2121 / 2121
position of stopcodon in wt / mu cDNA 6454 / 6454
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 92 / 92
chromosome 12
strand 1
last intron/exon boundary 6253
theoretical NMD boundary in CDS 6111
length of CDS 6363
coding sequence (CDS) position 1842
cDNA position
(for ins/del: last normal base / first normal base)		 1933
gDNA position
(for ins/del: last normal base / first normal base)		 8463
chromosomal position
(for ins/del: last normal base / first normal base)		 53670545
original gDNA sequence snippet TGTGACCTCCTGGAGCTGAGCCCCGAGGAGACACCAGCCGG
altered gDNA sequence snippet TGTGACCTCCTGGAGCTGAGACCCGAGGAGACACCAGCCGG
original cDNA sequence snippet TGTGACCTCCTGGAGCTGAGCCCCGAGGAGACACCAGCCGG
altered cDNA sequence snippet TGTGACCTCCTGGAGCTGAGACCCGAGGAGACACCAGCCGG
wildtype AA sequence MRSFKRVNFG TLLSSQKEAE ELLPALKEFL SNPPAGFPSS RSDAERRQAC DAILRACNQQ
LTAKLACPRH LGSLLELAEL ACDGYLVSTP QRPPLYLERI LFVLLRNAAA QGSPEATLRL
AQPLHACLVQ CSREAAPQDY EAVARGSFSL LWKGAEALLE RRAAFAARLK ALSFLVLLED
ESTPCEVPHF ASPTACRAVA AHQLFDASGH GLNEADADFL DDLLSRHVIR ALVGERGSSS
GLLSPQRALC LLELTLEHCR RFCWSRHHDK AISAVEKAHS YLRNTNLAPS LQLCQLGVKL
LQVGEEGPQA VAKLLIKASA VLSKSMEAPS PPLRALYESC QFFLSGLERG TKRRYRLDAI
LSLFAFLGGY CSLLQQLRDD GVYGGSSKQQ QSFLQMYFQG LHLYTVVVYD FAQGCQIVDL
ADLTQLVDSC KSTVVWMLEA LEGLSGQELT DHMGMTASYT SNLAYSFYSH KLYAEACAIS
EPLCQHLGLV KPGTYPEVPP EKLHRCFRLQ VESLKKLGKQ AQGCKMVILW LAALQPCSPE
HMAEPVTFWV RVKMDAARAG DKELQLKTLR DSLSGWDPET LALLLREELQ AYKAVRADTG
QERFNIICDL LELSPEETPA GAWARATHLV ELAQVLCYHD FTQQTNCSAL DAIREALQLL
DSVRPEAQAR DQLLDDKAQA LLWLYICTLE AKMQEGIERD RRAQAPGNLE EFEVNDLNYE
DKLQEDRFLY SNIAFNLAAD AAQSKCLDQA LALWKELLTK GQAPAVRCLQ QTAASLQILA
ALYQLVAKPM QALEVLLLLR IVSERLKDHS KAAGSSCHIT QLLLTLGCPS YAQLHLEEAA
SSLKHLDQTT DTYLLLSLTC DLLRSQLYWT HQKVTKGVSL LLSVLRDPAL QKSSKAWYLL
RVQVLQLVAA YLSLPSNNLS HSLWEQLCAQ GWQTPEIALI DSHKLLRSII LLLMGSDILS
TQKAAVETSF LDYGENLVQK WQVLSEVLSC SEKLVCHLGR LGSVSEAKAF CLEALKLTTK
LQIPRQCALF LVLKGELELA RNDIDLCQSD LQQVLFLLES CTEFGGVTQH LDSVKKVHLQ
KGKQQAQVPC PPQLPEEELF LRGPALELVA TVAKEPGPIA PSTNSSPVLK TKPQPIPNFL
SHSPTCDCSL CASPVLTAVC LRWVLVTAGV RLAMGHQAQG LDLLQVVLKG CPEAAERLTQ
ALQASLNHKT PPSLVPSLLD EILAQAYTLL ALEGLNQPSN ESLQKVLQSG LKFVAARIPH
LEPWRASLLL IWALTKLGGL SCCTTQLFAS SWGWQPPLIK SVPGSEPSKT QGQKRSGRGR
QKLASAPLRL NNTSQKGLEG RGLPCTPKPP DRIRQAGPHV PFTVFEEVCP TESKPEVPQA
PRVQQRVQTR LKVNFSDDSD LEDPVSAEAW LAEEPKRRGT ASRGRGRARK GLSLKTDAVV
APGSAPGNPG LNGRSRRAKK VASRHCEERR PQRASDQARP GPEIMRTIPE EELTDNWRKM
SFEILRGSDG EDSASGGKTP APGPEAASGE WELLRLDSSK KKLPSPCPDK ESDKDLGPRL
RLPSAPVATG LSTLDSICDS LSVAFRGISH CPPSGLYAHL CRFLALCLGH RDPYATAFLV
TESVSITCRH QLLTHLHRQL SKAQKHRGSL EIADQLQGLS LQEMPGDVPL ARIQRLFSFR
ALESGHFPQP EKESFQERLA LIPSGVTVCV LALATLQPGT VGNTLLLTRL EKDSPPVSVQ
IPTGQNKLHL RSVLNEFDAI QKAQKENSSC TDKREWWTGR LALDHRMEVL IASLEKSVLG
CWKGLLLPSS EEPGPAQEAS RLQELLQDCG WKYPDRTLLK IMLSGAGALT PQDIQALAYG
LCPTQPERAQ ELLNEAVGRL QGLTVPSNSH LVLVLDKDLQ KLPWESMPSL QALPVTRLPS
FRFLLSYSII KEYGASPVLS QGVDPRSTFY VLNPHNNLSS TEEQFRANFS SEAGWRGVVG
EVPRPEQVQE ALTKHDLYIY AGHGAGARFL DGQAVLRLSC RAVALLFGCS SAALAVRGNL
EGAGIVLKYI MAGCPLFLGN LWDVTDRDID RYTEALLQGW LGAGPGAPLL YYVNQARQAP
RLKYLIGAAP IAYGLPVSLR *
mutated AA sequence MRSFKRVNFG TLLSSQKEAE ELLPALKEFL SNPPAGFPSS RSDAERRQAC DAILRACNQQ
LTAKLACPRH LGSLLELAEL ACDGYLVSTP QRPPLYLERI LFVLLRNAAA QGSPEATLRL
AQPLHACLVQ CSREAAPQDY EAVARGSFSL LWKGAEALLE RRAAFAARLK ALSFLVLLED
ESTPCEVPHF ASPTACRAVA AHQLFDASGH GLNEADADFL DDLLSRHVIR ALVGERGSSS
GLLSPQRALC LLELTLEHCR RFCWSRHHDK AISAVEKAHS YLRNTNLAPS LQLCQLGVKL
LQVGEEGPQA VAKLLIKASA VLSKSMEAPS PPLRALYESC QFFLSGLERG TKRRYRLDAI
LSLFAFLGGY CSLLQQLRDD GVYGGSSKQQ QSFLQMYFQG LHLYTVVVYD FAQGCQIVDL
ADLTQLVDSC KSTVVWMLEA LEGLSGQELT DHMGMTASYT SNLAYSFYSH KLYAEACAIS
EPLCQHLGLV KPGTYPEVPP EKLHRCFRLQ VESLKKLGKQ AQGCKMVILW LAALQPCSPE
HMAEPVTFWV RVKMDAARAG DKELQLKTLR DSLSGWDPET LALLLREELQ AYKAVRADTG
QERFNIICDL LELRPEETPA GAWARATHLV ELAQVLCYHD FTQQTNCSAL DAIREALQLL
DSVRPEAQAR DQLLDDKAQA LLWLYICTLE AKMQEGIERD RRAQAPGNLE EFEVNDLNYE
DKLQEDRFLY SNIAFNLAAD AAQSKCLDQA LALWKELLTK GQAPAVRCLQ QTAASLQILA
ALYQLVAKPM QALEVLLLLR IVSERLKDHS KAAGSSCHIT QLLLTLGCPS YAQLHLEEAA
SSLKHLDQTT DTYLLLSLTC DLLRSQLYWT HQKVTKGVSL LLSVLRDPAL QKSSKAWYLL
RVQVLQLVAA YLSLPSNNLS HSLWEQLCAQ GWQTPEIALI DSHKLLRSII LLLMGSDILS
TQKAAVETSF LDYGENLVQK WQVLSEVLSC SEKLVCHLGR LGSVSEAKAF CLEALKLTTK
LQIPRQCALF LVLKGELELA RNDIDLCQSD LQQVLFLLES CTEFGGVTQH LDSVKKVHLQ
KGKQQAQVPC PPQLPEEELF LRGPALELVA TVAKEPGPIA PSTNSSPVLK TKPQPIPNFL
SHSPTCDCSL CASPVLTAVC LRWVLVTAGV RLAMGHQAQG LDLLQVVLKG CPEAAERLTQ
ALQASLNHKT PPSLVPSLLD EILAQAYTLL ALEGLNQPSN ESLQKVLQSG LKFVAARIPH
LEPWRASLLL IWALTKLGGL SCCTTQLFAS SWGWQPPLIK SVPGSEPSKT QGQKRSGRGR
QKLASAPLRL NNTSQKGLEG RGLPCTPKPP DRIRQAGPHV PFTVFEEVCP TESKPEVPQA
PRVQQRVQTR LKVNFSDDSD LEDPVSAEAW LAEEPKRRGT ASRGRGRARK GLSLKTDAVV
APGSAPGNPG LNGRSRRAKK VASRHCEERR PQRASDQARP GPEIMRTIPE EELTDNWRKM
SFEILRGSDG EDSASGGKTP APGPEAASGE WELLRLDSSK KKLPSPCPDK ESDKDLGPRL
RLPSAPVATG LSTLDSICDS LSVAFRGISH CPPSGLYAHL CRFLALCLGH RDPYATAFLV
TESVSITCRH QLLTHLHRQL SKAQKHRGSL EIADQLQGLS LQEMPGDVPL ARIQRLFSFR
ALESGHFPQP EKESFQERLA LIPSGVTVCV LALATLQPGT VGNTLLLTRL EKDSPPVSVQ
IPTGQNKLHL RSVLNEFDAI QKAQKENSSC TDKREWWTGR LALDHRMEVL IASLEKSVLG
CWKGLLLPSS EEPGPAQEAS RLQELLQDCG WKYPDRTLLK IMLSGAGALT PQDIQALAYG
LCPTQPERAQ ELLNEAVGRL QGLTVPSNSH LVLVLDKDLQ KLPWESMPSL QALPVTRLPS
FRFLLSYSII KEYGASPVLS QGVDPRSTFY VLNPHNNLSS TEEQFRANFS SEAGWRGVVG
EVPRPEQVQE ALTKHDLYIY AGHGAGARFL DGQAVLRLSC RAVALLFGCS SAALAVRGNL
EGAGIVLKYI MAGCPLFLGN LWDVTDRDID RYTEALLQGW LGAGPGAPLL YYVNQARQAP
RLKYLIGAAP IAYGLPVSLR *
speed 0.63 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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Problems