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: ENST00000220616
Querying Taster for transcript #2: ENST00000377869
MT speed 2.96 s - this script 6.292299 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
TGpolymorphism_automatic8.6897156137411e-13simple_aaeD1838Nsingle base exchangers2069561show file
TGpolymorphism_automatic8.6897156137411e-13simple_aaeD1781Nsingle base exchangers2069561show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999131 (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
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:133975283G>AN/A show variant in all transcripts   IGV
HGNC symbol TG
Ensembl transcript ID ENST00000220616
Genbank transcript ID NM_003235
UniProt peptide P01266
alteration type single base exchange
alteration region CDS
DNA changes c.5512G>A
cDNA.5552G>A
g.96081G>A
AA changes D1838N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1838
frameshift no
known variant Reference ID: rs2069561
databasehomozygous (A/A)heterozygousallele carriers
1000G4258871312
ExAC15551166517216
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9480
0.3710
(flanking)-0.8970
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 increased96086wt: 0.2848 / mu: 0.3267 (marginal change - not scored)wt: GACACAGTGCCAAGG
mu: AACACAGTGCCAAGG
 CACA|gtgc
Donor marginally increased96081wt: 0.8032 / mu: 0.8127 (marginal change - not scored)wt: GAAAAGACACAGTGC
mu: GAAAAAACACAGTGC
 AAAG|acac
distance from splice site 37
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1838GSRPESMGCRKDTVPRPASPTEAG
mutated  all conserved    1838GSRPESMGCRKNTVPRPASPTEA
Ptroglodytes  all identical  ENSPTRG00000020599  839GSRPESMGCRKDTV
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000011954  916GSRSESMGCRKDTEPGPTSPTEP
Mmusculus  not conserved  ENSMUSG00000053469  1837GSRPESMGCERGMVPRSDFPGD-
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000020084  1807RAKTLSACSGSAVGEDSRSALS
Dmelanogaster  no homologue    
Celegans  no alignment  F55F3.2  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
17241892REPEATType IIIB.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 8307 / 8307
position (AA) of stopcodon in wt / mu AA sequence 2769 / 2769
position of stopcodon in wt / mu cDNA 8347 / 8347
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 41 / 41
chromosome 8
strand 1
last intron/exon boundary 8229
theoretical NMD boundary in CDS 8138
length of CDS 8307
coding sequence (CDS) position 5512
cDNA position
(for ins/del: last normal base / first normal base)
5552
gDNA position
(for ins/del: last normal base / first normal base)
96081
chromosomal position
(for ins/del: last normal base / first normal base)
133975283
original gDNA sequence snippet AGTCTATGGGATGTAGAAAAGACACAGTGCCAAGGCCAGCA
altered gDNA sequence snippet AGTCTATGGGATGTAGAAAAAACACAGTGCCAAGGCCAGCA
original cDNA sequence snippet AGTCTATGGGATGTAGAAAAGACACAGTGCCAAGGCCAGCA
altered cDNA sequence snippet AGTCTATGGGATGTAGAAAAAACACAGTGCCAAGGCCAGCA
wildtype AA sequence MALVLEIFTL LASICWVSAN IFEYQVDAQP LRPCELQRET AFLKQADYVP QCAEDGSFQT
VQCQNDGRSC WCVGANGSEV LGSRQPGRPV ACLSFCQLQK QQILLSGYIN STDTSYLPQC
QDSGDYAPVQ CDVQQVQCWC VDAEGMEVYG TRQLGRPKRC PRSCEIRNRR LLHGVGDKSP
PQCSAEGEFM PVQCKFVNTT DMMIFDLVHS YNRFPDAFVT FSSFQRRFPE VSGYCHCADS
QGRELAETGL ELLLDEIYDT IFAGLDLPST FTETTLYRIL QRRFLAVQSV ISGRFRCPTK
CEVERFTATS FGHPYVPSCR RNGDYQAVQC QTEGPCWCVD AQGKEMHGTR QQGEPPSCAE
GQSCASERQQ ALSRLYFGTS GYFSQHDLFS SPEKRWASPR VARFATSCPP TIKELFVDSG
LLRPMVEGQS QQFSVSENLL KEAIRAIFPS RGLARLALQF TTNPKRLQQN LFGGKFLVNV
GQFNLSGALG TRGTFNFSQF FQQLGLASFL NGGRQEDLAK PLSVGLDSNS STGTPEAAKK
DGTMNKPTVG SFGFEINLQE NQNALKFLAS LLELPEFLLF LQHAISVPED VARDLGDVME
TVLSSQTCEQ TPERLFVPSC TTEGSYEDVQ CFSGECWCVN SWGKELPGSR VRGGQPRCPT
DCEKQRARMQ SLMGSQPAGS TLFVPACTSE GHFLPVQCFN SECYCVDAEG QAIPGTRSAI
GKPKKCPTPC QLQSEQAFLR TVQALLSNSS MLPTLSDTYI PQCSTDGQWR QVQCNGPPEQ
VFELYQRWEA QNKGQDLTPA KLLVKIMSYR EAASGNFSLF IQSLYEAGQQ DVFPVLSQYP
SLQDVPLAAL EGKRPQPREN ILLEPYLFWQ ILNGQLSQYP GSYSDFSTPL AHFDLRNCWC
VDEAGQELEG MRSEPSKLPT CPGSCEEAKL RVLQFIRETE EIVSASNSSR FPLGESFLVA
KGIRLRNEDL GLPPLFPPRE AFAEQFLRGS DYAIRLAAQS TLSFYQRRRF SPDDSAGASA
LLRSGPYMPQ CDAFGSWEPV QCHAGTGHCW CVDEKGGFIP GSLTARSLQI PQCPTTCEKS
RTSGLLSSWK QARSQENPSP KDLFVPACLE TGEYARLQAS GAGTWCVDPA SGEELRPGSS
SSAQCPSLCN VLKSGVLSRR VSPGYVPACR AEDGGFSPVQ CDQAQGSCWC VMDSGEEVPG
TRVTGGQPAC ESPRCPLPFN ASEVVGGTIL CETISGPTGS AMQQCQLLCR QGSWSVFPPG
PLICSLESGR WESQLPQPRA CQRPQLWQTI QTQGHFQLQL PPGKMCSADY ADLLQTFQVF
ILDELTARGF CQIQVKTFGT LVSIPVCNNS SVQVGCLTRE RLGVNVTWKS RLEDIPVASL
PDLHDIERAL VGKDLLGRFT DLIQSGSFQL HLDSKTFPAE TIRFLQGDHF GTSPRTWFGC
SEGFYQVLTS EASQDGLGCV KCPEGSYSQD EECIPCPVGF YQEQAGSLAC VPCPVGRTTI
SAGAFSQTHC VTDCQRNEAG LQCDQNGQYR ASQKDRGSGK AFCVDGEGRR LPWWETEAPL
EDSQCLMMQK FEKVPESKVI FDANAPVAVR SKVPDSEFPV MQCLTDCTED EACSFFTVST
TEPEISCDFY AWTSDNVACM TSDQKRDALG NSKATSFGSL RCQVKVRSHG QDSPAVYLKK
GQGSTTTLQK RFEPTGFQNM LSGLYNPIVF SASGANLTDA HLFCLLACDR DLCCDGFVLT
QVQGGAIICG LLSSPSVLLC NVKDWMDPSE AWANATCPGV TYDQESHQVI LRLGDQEFIK
SLTPLEGTQD TFTNFQQVYL WKDSDMGSRP ESMGCRKDTV PRPASPTEAG LTTELFSPVD
LNQVIVNGNQ SLSSQKHWLF KHLFSAQQAN LWCLSRCVQE HSFCQLAEIT ESASLYFTCT
LYPEAQVCDD IMESNAQGCR LILPQMPKAL FRKKVILEDK VKNFYTRLPF QKLMGISIRN
KVPMSEKSIS NGFFECERRC DADPCCTGFG FLNVSQLKGG EVTCLTLNSL GIQMCSEENG
GAWRILDCGS PDIEVHTYPF GWYQKPIAQN NAPSFCPLVV LPSLTEKVSL DSWQSLALSS
VVVDPSIRHF DVAHVSTAAT SNFSAVRDLC LSECSQHEAC LITTLQTQPG AVRCMFYADT
QSCTHSLQGQ NCRLLLREEA THIYRKPGIS LLSYEASVPS VPISTHGRLL GRSQAIQVGT
SWKQVDQFLG VPYAAPPLAE RRFQAPEPLN WTGSWDASKP RASCWQPGTR TSTSPGVSED
CLYLNVFIPQ NVAPNASVLV FFHNTMDREE SEGWPAIDGS FLAAVGNLIV VTASYRVGVF
GFLSSGSGEV SGNWGLLDQV AALTWVQTHI RGFGGDPRRV SLAADRGGAD VASIHLLTAR
ATNSQLFRRA VLMGGSALSP AAVISHERAQ QQAIALAKEV SCPMSSSQEV VSCLRQKPAN
VLNDAQTKLL AVSGPFHYWG PVIDGHFLRE PPARALKRSL WVEVDLLIGS SQDDGLINRA
KAVKQFEESR GRTSSKTAFY QALQNSLGGE DSDARVEAAA TWYYSLEHST DDYASFSRAL
ENATRDYFII CPIIDMASAW AKRARGNVFM YHAPENYGHG SLELLADVQF ALGLPFYPAY
EGQFSLEEKS LSLKIMQYFS HFIRSGNPNY PYEFSRKVPT FATPWPDFVP RAGGENYKEF
SELLPNRQGL KKADCSFWSK YISSLKTSAD GAKGGQSAES EEEELTAGSG LREDLLSLQE
PGSKTYSK*
mutated AA sequence MALVLEIFTL LASICWVSAN IFEYQVDAQP LRPCELQRET AFLKQADYVP QCAEDGSFQT
VQCQNDGRSC WCVGANGSEV LGSRQPGRPV ACLSFCQLQK QQILLSGYIN STDTSYLPQC
QDSGDYAPVQ CDVQQVQCWC VDAEGMEVYG TRQLGRPKRC PRSCEIRNRR LLHGVGDKSP
PQCSAEGEFM PVQCKFVNTT DMMIFDLVHS YNRFPDAFVT FSSFQRRFPE VSGYCHCADS
QGRELAETGL ELLLDEIYDT IFAGLDLPST FTETTLYRIL QRRFLAVQSV ISGRFRCPTK
CEVERFTATS FGHPYVPSCR RNGDYQAVQC QTEGPCWCVD AQGKEMHGTR QQGEPPSCAE
GQSCASERQQ ALSRLYFGTS GYFSQHDLFS SPEKRWASPR VARFATSCPP TIKELFVDSG
LLRPMVEGQS QQFSVSENLL KEAIRAIFPS RGLARLALQF TTNPKRLQQN LFGGKFLVNV
GQFNLSGALG TRGTFNFSQF FQQLGLASFL NGGRQEDLAK PLSVGLDSNS STGTPEAAKK
DGTMNKPTVG SFGFEINLQE NQNALKFLAS LLELPEFLLF LQHAISVPED VARDLGDVME
TVLSSQTCEQ TPERLFVPSC TTEGSYEDVQ CFSGECWCVN SWGKELPGSR VRGGQPRCPT
DCEKQRARMQ SLMGSQPAGS TLFVPACTSE GHFLPVQCFN SECYCVDAEG QAIPGTRSAI
GKPKKCPTPC QLQSEQAFLR TVQALLSNSS MLPTLSDTYI PQCSTDGQWR QVQCNGPPEQ
VFELYQRWEA QNKGQDLTPA KLLVKIMSYR EAASGNFSLF IQSLYEAGQQ DVFPVLSQYP
SLQDVPLAAL EGKRPQPREN ILLEPYLFWQ ILNGQLSQYP GSYSDFSTPL AHFDLRNCWC
VDEAGQELEG MRSEPSKLPT CPGSCEEAKL RVLQFIRETE EIVSASNSSR FPLGESFLVA
KGIRLRNEDL GLPPLFPPRE AFAEQFLRGS DYAIRLAAQS TLSFYQRRRF SPDDSAGASA
LLRSGPYMPQ CDAFGSWEPV QCHAGTGHCW CVDEKGGFIP GSLTARSLQI PQCPTTCEKS
RTSGLLSSWK QARSQENPSP KDLFVPACLE TGEYARLQAS GAGTWCVDPA SGEELRPGSS
SSAQCPSLCN VLKSGVLSRR VSPGYVPACR AEDGGFSPVQ CDQAQGSCWC VMDSGEEVPG
TRVTGGQPAC ESPRCPLPFN ASEVVGGTIL CETISGPTGS AMQQCQLLCR QGSWSVFPPG
PLICSLESGR WESQLPQPRA CQRPQLWQTI QTQGHFQLQL PPGKMCSADY ADLLQTFQVF
ILDELTARGF CQIQVKTFGT LVSIPVCNNS SVQVGCLTRE RLGVNVTWKS RLEDIPVASL
PDLHDIERAL VGKDLLGRFT DLIQSGSFQL HLDSKTFPAE TIRFLQGDHF GTSPRTWFGC
SEGFYQVLTS EASQDGLGCV KCPEGSYSQD EECIPCPVGF YQEQAGSLAC VPCPVGRTTI
SAGAFSQTHC VTDCQRNEAG LQCDQNGQYR ASQKDRGSGK AFCVDGEGRR LPWWETEAPL
EDSQCLMMQK FEKVPESKVI FDANAPVAVR SKVPDSEFPV MQCLTDCTED EACSFFTVST
TEPEISCDFY AWTSDNVACM TSDQKRDALG NSKATSFGSL RCQVKVRSHG QDSPAVYLKK
GQGSTTTLQK RFEPTGFQNM LSGLYNPIVF SASGANLTDA HLFCLLACDR DLCCDGFVLT
QVQGGAIICG LLSSPSVLLC NVKDWMDPSE AWANATCPGV TYDQESHQVI LRLGDQEFIK
SLTPLEGTQD TFTNFQQVYL WKDSDMGSRP ESMGCRKNTV PRPASPTEAG LTTELFSPVD
LNQVIVNGNQ SLSSQKHWLF KHLFSAQQAN LWCLSRCVQE HSFCQLAEIT ESASLYFTCT
LYPEAQVCDD IMESNAQGCR LILPQMPKAL FRKKVILEDK VKNFYTRLPF QKLMGISIRN
KVPMSEKSIS NGFFECERRC DADPCCTGFG FLNVSQLKGG EVTCLTLNSL GIQMCSEENG
GAWRILDCGS PDIEVHTYPF GWYQKPIAQN NAPSFCPLVV LPSLTEKVSL DSWQSLALSS
VVVDPSIRHF DVAHVSTAAT SNFSAVRDLC LSECSQHEAC LITTLQTQPG AVRCMFYADT
QSCTHSLQGQ NCRLLLREEA THIYRKPGIS LLSYEASVPS VPISTHGRLL GRSQAIQVGT
SWKQVDQFLG VPYAAPPLAE RRFQAPEPLN WTGSWDASKP RASCWQPGTR TSTSPGVSED
CLYLNVFIPQ NVAPNASVLV FFHNTMDREE SEGWPAIDGS FLAAVGNLIV VTASYRVGVF
GFLSSGSGEV SGNWGLLDQV AALTWVQTHI RGFGGDPRRV SLAADRGGAD VASIHLLTAR
ATNSQLFRRA VLMGGSALSP AAVISHERAQ QQAIALAKEV SCPMSSSQEV VSCLRQKPAN
VLNDAQTKLL AVSGPFHYWG PVIDGHFLRE PPARALKRSL WVEVDLLIGS SQDDGLINRA
KAVKQFEESR GRTSSKTAFY QALQNSLGGE DSDARVEAAA TWYYSLEHST DDYASFSRAL
ENATRDYFII CPIIDMASAW AKRARGNVFM YHAPENYGHG SLELLADVQF ALGLPFYPAY
EGQFSLEEKS LSLKIMQYFS HFIRSGNPNY PYEFSRKVPT FATPWPDFVP RAGGENYKEF
SELLPNRQGL KKADCSFWSK YISSLKTSAD GAKGGQSAES EEEELTAGSG LREDLLSLQE
PGSKTYSK*
speed 1.80 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: 0.999999999999131 (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
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:133975283G>AN/A show variant in all transcripts   IGV
HGNC symbol TG
Ensembl transcript ID ENST00000377869
Genbank transcript ID N/A
UniProt peptide P01266
alteration type single base exchange
alteration region CDS
DNA changes c.5341G>A
cDNA.5382G>A
g.96081G>A
AA changes D1781N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1781
frameshift no
known variant Reference ID: rs2069561
databasehomozygous (A/A)heterozygousallele carriers
1000G4258871312
ExAC15551166517216
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9480
0.3710
(flanking)-0.8970
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 increased96086wt: 0.2848 / mu: 0.3267 (marginal change - not scored)wt: GACACAGTGCCAAGG
mu: AACACAGTGCCAAGG
 CACA|gtgc
Donor marginally increased96081wt: 0.8032 / mu: 0.8127 (marginal change - not scored)wt: GAAAAGACACAGTGC
mu: GAAAAAACACAGTGC
 AAAG|acac
distance from splice site 37
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1781GSRPESMGCRKDTVPRPASPTEAG
mutated  all conserved    1781GSRPESMGCRKNTVPRPASPTEA
Ptroglodytes  all identical  ENSPTRG00000020599  839GSRPESMGCRKDTV
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000011954  916GSRSESMGCRKDTEPGPTSPTEP
Mmusculus  not conserved  ENSMUSG00000053469  1837GSRPESMGCERGMVPRSDFPGD-
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000020084  1807KTLSACSGSAVGEDSRSALS
Dmelanogaster  no homologue    
Celegans  no alignment  F55F3.2  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
17241892REPEATType IIIB.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 8136 / 8136
position (AA) of stopcodon in wt / mu AA sequence 2712 / 2712
position of stopcodon in wt / mu cDNA 8177 / 8177
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 42 / 42
chromosome 8
strand 1
last intron/exon boundary 8059
theoretical NMD boundary in CDS 7967
length of CDS 8136
coding sequence (CDS) position 5341
cDNA position
(for ins/del: last normal base / first normal base)
5382
gDNA position
(for ins/del: last normal base / first normal base)
96081
chromosomal position
(for ins/del: last normal base / first normal base)
133975283
original gDNA sequence snippet AGTCTATGGGATGTAGAAAAGACACAGTGCCAAGGCCAGCA
altered gDNA sequence snippet AGTCTATGGGATGTAGAAAAAACACAGTGCCAAGGCCAGCA
original cDNA sequence snippet AGTCTATGGGATGTAGAAAAGACACAGTGCCAAGGCCAGCA
altered cDNA sequence snippet AGTCTATGGGATGTAGAAAAAACACAGTGCCAAGGCCAGCA
wildtype AA sequence MALVLEIFTL LASICWVSAN IFEYQVDAQP LRPCELQRET AFLKQADYVP QCAEDGSFQT
VQCQNDGRSC WCVGANGSEV LGSRQPGRPV ACLSFCQLQK QQILLSGYIN STDTSYLPQC
QDSGDYAPVQ CDVQQVQCWC VDAEGMEVYG TRQLGRPKRC PRSCEIRNRR LLHGVGDKSP
PQCSAEGEFM PVQCKFVNTT DMMIFDLVHS YNRFPDAFVT FSSFQRRFPE VSGYCHCADS
QGRELAETGL ELLLDEIYDT IFAGLDLPST FTETTLYRIL QRRFLAVQSV ISGRFRCPTK
CEVERFTATS FGHPYVPSCR RNGDYQAVQC QTEGPCWCVD AQGKEMHGTR QQGEPPSCAE
GQSCASERQQ ALSRLYFGTS GYFSQHDLFS SPEKRWASPR VARFATSCPP TIKELFVDSG
LLRPMVEGQS QQFSVSENLL KEAIRAIFPS RGLARLALQF TTNPKRLQQN LFGGKFLVNV
GQFNLSGALG TRGTFNFSQF FQQLGLASFL NGGRQEDLAK PLSVGLDSNS STGTPEAAKK
DGTMNKPTVG SFGFEINLQE NQNALKFLAS LLELPEFLLF LQHAISVPED VARDLGDVME
TVLSSQTCEQ TPERLFVPSC TTEGSYEDVQ CFSGECWCVN SWGKELPGSR VRGGQPRCPT
DCEKQRARMQ SLMGSQPAGS TLFVPACTSE GHFLPVQCFN SECYCVDAEG QAIPGTRSAI
GKPKKCPTPC QLQSEQAFLR TVQALLSNSS MLPTLSDTYI PQCSTDGQWR QVQCNGPPEQ
VFELYQRWEA QNKGQDLTPA KLLVKIMSYR EAASGNFSLF IQSLYEAGQQ DVFPVLSQYP
SLQDVPLAAL EGKRPQPREN ILLEPYLFWQ ILNGQLSQYP GSYSDFSTPL AHFDLRNCWC
VDEAGQELEG MRSEPSKLPT CPGSCEEAKL RVLQFIRETE EIVSASNSSR FPLGESFLVA
KGIRLRNEDL GLPPLFPPRE AFAEQFLRGS DYAIRLAAQS TLSFYQRRRF SPDDSAGASA
LLRSGPYMPQ CDAFGSWEPV QCHAGTGHCW CVDEKGGFIP GSLTARSLQI PQCPTTCEKS
RTSGLLSSWK QARSQENPSP KDLFVPACLE TGEYARLQAS GAGTWCVDPA SGEELRPGSS
SSAQCPSLCN VLKSGVLSRR VSPGYVPACR AEDGGFSPVQ CDQAQGSCWC VMDSGEEVPG
TRVTGGQPAC ESPRCPLPFN ASEVVGGTIL CETISGPTGS AMQQCQLLCR QGSWSVFPPG
PLICSLESGR WESQLPQPRA CQRPQLWQTI QTQGHFQLQL PPGKMCSADY ADLLQTFQVF
ILDELTARGF CQIQVKTFGT LVSIPVCNNS SVQVGCLTRE RLGVNVTWKS RLEDIPVASL
PDLHDIERAL VGKDLLGRFT DLIQSGSFQL HLDSKTFPAE TIRFLQGDHF GTSPRTWFGC
SEGFYQVLTS EASQDGLGCV KCPEGSYSQD EECIPCPVGF YQEQAGSLAC VPCPVGRTTI
SAGAFSQTHL MQKFEKVPES KVIFDANAPV AVRSKVPDSE FPVMQCLTDC TEDEACSFFT
VSTTEPEISC DFYAWTSDNV ACMTSDQKRD ALGNSKATSF GSLRCQVKVR SHGQDSPAVY
LKKGQGSTTT LQKRFEPTGF QNMLSGLYNP IVFSASGANL TDAHLFCLLA CDRDLCCDGF
VLTQVQGGAI ICGLLSSPSV LLCNVKDWMD PSEAWANATC PGVTYDQESH QVILRLGDQE
FIKSLTPLEG TQDTFTNFQQ VYLWKDSDMG SRPESMGCRK DTVPRPASPT EAGLTTELFS
PVDLNQVIVN GNQSLSSQKH WLFKHLFSAQ QANLWCLSRC VQEHSFCQLA EITESASLYF
TCTLYPEAQV CDDIMESNAQ GCRLILPQMP KALFRKKVIL EDKVKNFYTR LPFQKLMGIS
IRNKVPMSEK SISNGFFECE RRCDADPCCT GFGFLNVSQL KGGEVTCLTL NSLGIQMCSE
ENGGAWRILD CGSPDIEVHT YPFGWYQKPI AQNNAPSFCP LVVLPSLTEK VSLDSWQSLA
LSSVVVDPSI RHFDVAHVST AATSNFSAVR DLCLSECSQH EACLITTLQT QPGAVRCMFY
ADTQSCTHSL QGQNCRLLLR EEATHIYRKP GISLLSYEAS VPSVPISTHG RLLGRSQAIQ
VGTSWKQVDQ FLGVPYAAPP LAERRFQAPE PLNWTGSWDA SKPRASCWQP GTRTSTSPGV
SEDCLYLNVF IPQNVAPNAS VLVFFHNTMD REESEGWPAI DGSFLAAVGN LIVVTASYRV
GVFGFLSSGS GEVSGNWGLL DQVAALTWVQ THIRGFGGDP RRVSLAADRG GADVASIHLL
TARATNSQLF RRAVLMGGSA LSPAAVISHE RAQQQAIALA KEVSCPMSSS QEVVSCLRQK
PANVLNDAQT KLLAVSGPFH YWGPVIDGHF LREPPARALK RSLWVEVDLL IGSSQDDGLI
NRAKAVKQFE ESRGRTSSKT AFYQALQNSL GGEDSDARVE AAATWYYSLE HSTDDYASFS
RALENATRDY FIICPIIDMA SAWAKRARGN VFMYHAPENY GHGSLELLAD VQFALGLPFY
PAYEGQFSLE EKSLSLKIMQ YFSHFIRSGN PNYPYEFSRK VPTFATPWPD FVPRAGGENY
KEFSELLPNR QGLKKADCSF WSKYISSLKT SADGAKGGQS AESEEEELTA GSGLREDLLS
LQEPGSKTYS K*
mutated AA sequence MALVLEIFTL LASICWVSAN IFEYQVDAQP LRPCELQRET AFLKQADYVP QCAEDGSFQT
VQCQNDGRSC WCVGANGSEV LGSRQPGRPV ACLSFCQLQK QQILLSGYIN STDTSYLPQC
QDSGDYAPVQ CDVQQVQCWC VDAEGMEVYG TRQLGRPKRC PRSCEIRNRR LLHGVGDKSP
PQCSAEGEFM PVQCKFVNTT DMMIFDLVHS YNRFPDAFVT FSSFQRRFPE VSGYCHCADS
QGRELAETGL ELLLDEIYDT IFAGLDLPST FTETTLYRIL QRRFLAVQSV ISGRFRCPTK
CEVERFTATS FGHPYVPSCR RNGDYQAVQC QTEGPCWCVD AQGKEMHGTR QQGEPPSCAE
GQSCASERQQ ALSRLYFGTS GYFSQHDLFS SPEKRWASPR VARFATSCPP TIKELFVDSG
LLRPMVEGQS QQFSVSENLL KEAIRAIFPS RGLARLALQF TTNPKRLQQN LFGGKFLVNV
GQFNLSGALG TRGTFNFSQF FQQLGLASFL NGGRQEDLAK PLSVGLDSNS STGTPEAAKK
DGTMNKPTVG SFGFEINLQE NQNALKFLAS LLELPEFLLF LQHAISVPED VARDLGDVME
TVLSSQTCEQ TPERLFVPSC TTEGSYEDVQ CFSGECWCVN SWGKELPGSR VRGGQPRCPT
DCEKQRARMQ SLMGSQPAGS TLFVPACTSE GHFLPVQCFN SECYCVDAEG QAIPGTRSAI
GKPKKCPTPC QLQSEQAFLR TVQALLSNSS MLPTLSDTYI PQCSTDGQWR QVQCNGPPEQ
VFELYQRWEA QNKGQDLTPA KLLVKIMSYR EAASGNFSLF IQSLYEAGQQ DVFPVLSQYP
SLQDVPLAAL EGKRPQPREN ILLEPYLFWQ ILNGQLSQYP GSYSDFSTPL AHFDLRNCWC
VDEAGQELEG MRSEPSKLPT CPGSCEEAKL RVLQFIRETE EIVSASNSSR FPLGESFLVA
KGIRLRNEDL GLPPLFPPRE AFAEQFLRGS DYAIRLAAQS TLSFYQRRRF SPDDSAGASA
LLRSGPYMPQ CDAFGSWEPV QCHAGTGHCW CVDEKGGFIP GSLTARSLQI PQCPTTCEKS
RTSGLLSSWK QARSQENPSP KDLFVPACLE TGEYARLQAS GAGTWCVDPA SGEELRPGSS
SSAQCPSLCN VLKSGVLSRR VSPGYVPACR AEDGGFSPVQ CDQAQGSCWC VMDSGEEVPG
TRVTGGQPAC ESPRCPLPFN ASEVVGGTIL CETISGPTGS AMQQCQLLCR QGSWSVFPPG
PLICSLESGR WESQLPQPRA CQRPQLWQTI QTQGHFQLQL PPGKMCSADY ADLLQTFQVF
ILDELTARGF CQIQVKTFGT LVSIPVCNNS SVQVGCLTRE RLGVNVTWKS RLEDIPVASL
PDLHDIERAL VGKDLLGRFT DLIQSGSFQL HLDSKTFPAE TIRFLQGDHF GTSPRTWFGC
SEGFYQVLTS EASQDGLGCV KCPEGSYSQD EECIPCPVGF YQEQAGSLAC VPCPVGRTTI
SAGAFSQTHL MQKFEKVPES KVIFDANAPV AVRSKVPDSE FPVMQCLTDC TEDEACSFFT
VSTTEPEISC DFYAWTSDNV ACMTSDQKRD ALGNSKATSF GSLRCQVKVR SHGQDSPAVY
LKKGQGSTTT LQKRFEPTGF QNMLSGLYNP IVFSASGANL TDAHLFCLLA CDRDLCCDGF
VLTQVQGGAI ICGLLSSPSV LLCNVKDWMD PSEAWANATC PGVTYDQESH QVILRLGDQE
FIKSLTPLEG TQDTFTNFQQ VYLWKDSDMG SRPESMGCRK NTVPRPASPT EAGLTTELFS
PVDLNQVIVN GNQSLSSQKH WLFKHLFSAQ QANLWCLSRC VQEHSFCQLA EITESASLYF
TCTLYPEAQV CDDIMESNAQ GCRLILPQMP KALFRKKVIL EDKVKNFYTR LPFQKLMGIS
IRNKVPMSEK SISNGFFECE RRCDADPCCT GFGFLNVSQL KGGEVTCLTL NSLGIQMCSE
ENGGAWRILD CGSPDIEVHT YPFGWYQKPI AQNNAPSFCP LVVLPSLTEK VSLDSWQSLA
LSSVVVDPSI RHFDVAHVST AATSNFSAVR DLCLSECSQH EACLITTLQT QPGAVRCMFY
ADTQSCTHSL QGQNCRLLLR EEATHIYRKP GISLLSYEAS VPSVPISTHG RLLGRSQAIQ
VGTSWKQVDQ FLGVPYAAPP LAERRFQAPE PLNWTGSWDA SKPRASCWQP GTRTSTSPGV
SEDCLYLNVF IPQNVAPNAS VLVFFHNTMD REESEGWPAI DGSFLAAVGN LIVVTASYRV
GVFGFLSSGS GEVSGNWGLL DQVAALTWVQ THIRGFGGDP RRVSLAADRG GADVASIHLL
TARATNSQLF RRAVLMGGSA LSPAAVISHE RAQQQAIALA KEVSCPMSSS QEVVSCLRQK
PANVLNDAQT KLLAVSGPFH YWGPVIDGHF LREPPARALK RSLWVEVDLL IGSSQDDGLI
NRAKAVKQFE ESRGRTSSKT AFYQALQNSL GGEDSDARVE AAATWYYSLE HSTDDYASFS
RALENATRDY FIICPIIDMA SAWAKRARGN VFMYHAPENY GHGSLELLAD VQFALGLPFY
PAYEGQFSLE EKSLSLKIMQ YFSHFIRSGN PNYPYEFSRK VPTFATPWPD FVPRAGGENY
KEFSELLPNR QGLKKADCSF WSKYISSLKT SADGAKGGQS AESEEEELTA GSGLREDLLS
LQEPGSKTYS K*
speed 1.16 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