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: ENST00000302102
Querying Taster for transcript #2: ENST00000545399
Querying Taster for transcript #3: ENST00000543770
MT speed 0 s - this script 3.74292 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ATP1A3disease_causing_automatic0.99999999715302simple_aae0I758Ssingle base exchangers80356535show file
ATP1A3disease_causing_automatic0.999999998383051simple_aae0I771Ssingle base exchangers80356535show file
ATP1A3disease_causing_automatic0.999999998383051simple_aae0I769Ssingle base exchangers80356535show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999999715302 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM042306)
  • known disease mutation: rs12912 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:42474685A>CN/A show variant in all transcripts   IGV
HGNC symbol ATP1A3
Ensembl transcript ID ENST00000302102
Genbank transcript ID NM_152296
UniProt peptide P13637
alteration type single base exchange
alteration region CDS
DNA changes c.2273T>G
cDNA.2424T>G
g.23700T>G
AA changes I758S Score: 142 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 758
frameshift no
known variant Reference ID: rs80356535
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs12912 (pathogenic for Dystonia 12) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM042306)

known disease mutation at this position, please check HGMD for details (HGMD ID CM042306)
known disease mutation at this position, please check HGMD for details (HGMD ID CM042306)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.2841
3.9911
(flanking)3.9911
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      758SIVTGVEEGRLIFDNLKKSIAYTL
mutated  not conserved    758SIVTGVEEGRLSFDNLKKSIAYT
Ptroglodytes  no alignment  ENSPTRG00000011041  n/a
Mmulatta  all identical  ENSMMUG00000017427  758SIVTGVEEGRLIFDNLKKSIAYT
Fcatus  all identical  ENSFCAG00000012729  658EGRLIFDNLKKSIAYT
Mmusculus  all identical  ENSMUSG00000040907  758SIVTGVEEGRLIFDNLKKSIAYT
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000008243  765SIVTGVEEGRLIFDNLKKSIAYT
Drerio  all identical  ENSDARG00000018259  768SIVTGVEEGRLIFDNLKKSIAYT
Dmelanogaster  all identical  FBgn0002921  786SIVTGVEEGRLIFDNLKKSIAYT
Celegans  all identical  B0365.3  741SIVVGVEEGRLIFDNLKKSIAYT
Xtropicalis  all identical  ENSXETG00000023811  770SIVTGVEEGRLIFDNLKKSIAYT
protein features
start (aa)end (aa)featuredetails 
329762TOPO_DOMCytoplasmic (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3042 / 3042
position (AA) of stopcodon in wt / mu AA sequence 1014 / 1014
position of stopcodon in wt / mu cDNA 3193 / 3193
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 152 / 152
chromosome 19
strand -1
last intron/exon boundary 3165
theoretical NMD boundary in CDS 2963
length of CDS 3042
coding sequence (CDS) position 2273
cDNA position
(for ins/del: last normal base / first normal base)		 2424
gDNA position
(for ins/del: last normal base / first normal base)		 23700
chromosomal position
(for ins/del: last normal base / first normal base)		 42474685
original gDNA sequence snippet CTGTGCCACAGGCCGCCTGATCTTCGACAACCTAAAGAAGT
altered gDNA sequence snippet CTGTGCCACAGGCCGCCTGAGCTTCGACAACCTAAAGAAGT
original cDNA sequence snippet GGTGGAGGAGGGCCGCCTGATCTTCGACAACCTAAAGAAGT
altered cDNA sequence snippet GGTGGAGGAGGGCCGCCTGAGCTTCGACAACCTAAAGAAGT
wildtype AA sequence MGDKKDDKDS PKKNKGKERR DLDDLKKEVA MTEHKMSVEE VCRKYNTDCV QGLTHSKAQE
ILARDGPNAL TPPPTTPEWV KFCRQLFGGF SILLWIGAIL CFLAYGIQAG TEDDPSGDNL
YLGIVLAAVV IITGCFSYYQ EAKSSKIMES FKNMVPQQAL VIREGEKMQV NAEEVVVGDL
VEIKGGDRVP ADLRIISAHG CKVDNSSLTG ESEPQTRSPD CTHDNPLETR NITFFSTNCV
EGTARGVVVA TGDRTVMGRI ATLASGLEVG KTPIAIEIEH FIQLITGVAV FLGVSFFILS
LILGYTWLEA VIFLIGIIVA NVPEGLLATV TVCLTLTAKR MARKNCLVKN LEAVETLGST
STICSDKTGT LTQNRMTVAH MWFDNQIHEA DTTEDQSGTS FDKSSHTWVA LSHIAGLCNR
AVFKGGQDNI PVLKRDVAGD ASESALLKCI ELSSGSVKLM RERNKKVAEI PFNSTNKYQL
SIHETEDPND NRYLLVMKGA PERILDRCST ILLQGKEQPL DEEMKEAFQN AYLELGGLGE
RVLGFCHYYL PEEQFPKGFA FDCDDVNFTT DNLCFVGLMS MIDPPRAAVP DAVGKCRSAG
IKVIMVTGDH PITAKAIAKG VGIISEGNET VEDIAARLNI PVSQVNPRDA KACVIHGTDL
KDFTSEQIDE ILQNHTEIVF ARTSPQQKLI IVEGCQRQGA IVAVTGDGVN DSPALKKADI
GVAMGIAGSD VSKQAADMIL LDDNFASIVT GVEEGRLIFD NLKKSIAYTL TSNIPEITPF
LLFIMANIPL PLGTITILCI DLGTDMVPAI SLAYEAAESD IMKRQPRNPR TDKLVNERLI
SMAYGQIGMI QALGGFFSYF VILAENGFLP GNLVGIRLNW DDRTVNDLED SYGQQWTYEQ
RKVVEFTCHT AFFVSIVVVQ WADLIICKTR RNSVFQQGMK NKILIFGLFE ETALAAFLSY
CPGMDVALRM YPLKPSWWFC AFPYSFLIFV YDEIRKLILR RNPGGWVEKE TYY*
mutated AA sequence MGDKKDDKDS PKKNKGKERR DLDDLKKEVA MTEHKMSVEE VCRKYNTDCV QGLTHSKAQE
ILARDGPNAL TPPPTTPEWV KFCRQLFGGF SILLWIGAIL CFLAYGIQAG TEDDPSGDNL
YLGIVLAAVV IITGCFSYYQ EAKSSKIMES FKNMVPQQAL VIREGEKMQV NAEEVVVGDL
VEIKGGDRVP ADLRIISAHG CKVDNSSLTG ESEPQTRSPD CTHDNPLETR NITFFSTNCV
EGTARGVVVA TGDRTVMGRI ATLASGLEVG KTPIAIEIEH FIQLITGVAV FLGVSFFILS
LILGYTWLEA VIFLIGIIVA NVPEGLLATV TVCLTLTAKR MARKNCLVKN LEAVETLGST
STICSDKTGT LTQNRMTVAH MWFDNQIHEA DTTEDQSGTS FDKSSHTWVA LSHIAGLCNR
AVFKGGQDNI PVLKRDVAGD ASESALLKCI ELSSGSVKLM RERNKKVAEI PFNSTNKYQL
SIHETEDPND NRYLLVMKGA PERILDRCST ILLQGKEQPL DEEMKEAFQN AYLELGGLGE
RVLGFCHYYL PEEQFPKGFA FDCDDVNFTT DNLCFVGLMS MIDPPRAAVP DAVGKCRSAG
IKVIMVTGDH PITAKAIAKG VGIISEGNET VEDIAARLNI PVSQVNPRDA KACVIHGTDL
KDFTSEQIDE ILQNHTEIVF ARTSPQQKLI IVEGCQRQGA IVAVTGDGVN DSPALKKADI
GVAMGIAGSD VSKQAADMIL LDDNFASIVT GVEEGRLSFD NLKKSIAYTL TSNIPEITPF
LLFIMANIPL PLGTITILCI DLGTDMVPAI SLAYEAAESD IMKRQPRNPR TDKLVNERLI
SMAYGQIGMI QALGGFFSYF VILAENGFLP GNLVGIRLNW DDRTVNDLED SYGQQWTYEQ
RKVVEFTCHT AFFVSIVVVQ WADLIICKTR RNSVFQQGMK NKILIFGLFE ETALAAFLSY
CPGMDVALRM YPLKPSWWFC AFPYSFLIFV YDEIRKLILR RNPGGWVEKE TYY*
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

disease causing

 Model: simple_aae, prob: 0.999999998383051 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM042306)
  • known disease mutation: rs12912 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:42474685A>CN/A show variant in all transcripts   IGV
HGNC symbol ATP1A3
Ensembl transcript ID ENST00000545399
Genbank transcript ID NM_001256214
UniProt peptide P13637
alteration type single base exchange
alteration region CDS
DNA changes c.2312T>G
cDNA.2466T>G
g.23700T>G
AA changes I771S Score: 142 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 771
frameshift no
known variant Reference ID: rs80356535
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs12912 (pathogenic for Dystonia 12) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM042306)

known disease mutation at this position, please check HGMD for details (HGMD ID CM042306)
known disease mutation at this position, please check HGMD for details (HGMD ID CM042306)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.2841
3.9911
(flanking)3.9911
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      771SIVTGVEEGRLIFDNLKKSIAYTL
mutated  not conserved    771SIVTGVEEGRLSFDNLKKSIA
Ptroglodytes  no alignment  ENSPTRG00000011041  n/a
Mmulatta  all identical  ENSMMUG00000017427  758SIVTGVEEGRLIFDNLKKSIAYT
Fcatus  all identical  ENSFCAG00000012729  658EGRLIFDNLKKSIAYT
Mmusculus  all identical  ENSMUSG00000040907  758SIVTGVEEGRLIFDNLKKSIAYT
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000008243  765SIVTGVEEGRLIFDNLKKSIAYT
Drerio  all identical  ENSDARG00000018259  768SIVTGVEEGRLIFDNLKKSIA
Dmelanogaster  all identical  FBgn0002921  786SIVTGVEEGRLIFDN
Celegans  all identical  B0365.3  741SIVVGVEEGRLIFDNLKKSIAYT
Xtropicalis  all identical  ENSXETG00000023811  770SIVTGVEEGRLIFDNLKKSIAYT
protein features
start (aa)end (aa)featuredetails 
763782TRANSMEMHelical; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3081 / 3081
position (AA) of stopcodon in wt / mu AA sequence 1027 / 1027
position of stopcodon in wt / mu cDNA 3235 / 3235
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 155 / 155
chromosome 19
strand -1
last intron/exon boundary 3207
theoretical NMD boundary in CDS 3002
length of CDS 3081
coding sequence (CDS) position 2312
cDNA position
(for ins/del: last normal base / first normal base)		 2466
gDNA position
(for ins/del: last normal base / first normal base)		 23700
chromosomal position
(for ins/del: last normal base / first normal base)		 42474685
original gDNA sequence snippet CTGTGCCACAGGCCGCCTGATCTTCGACAACCTAAAGAAGT
altered gDNA sequence snippet CTGTGCCACAGGCCGCCTGAGCTTCGACAACCTAAAGAAGT
original cDNA sequence snippet GGTGGAGGAGGGCCGCCTGATCTTCGACAACCTAAAGAAGT
altered cDNA sequence snippet GGTGGAGGAGGGCCGCCTGAGCTTCGACAACCTAAAGAAGT
wildtype AA sequence MGSGGSDSYR IATSQDKKDD KDSPKKNKGK ERRDLDDLKK EVAMTEHKMS VEEVCRKYNT
DCVQGLTHSK AQEILARDGP NALTPPPTTP EWVKFCRQLF GGFSILLWIG AILCFLAYGI
QAGTEDDPSG DNLYLGIVLA AVVIITGCFS YYQEAKSSKI MESFKNMVPQ QALVIREGEK
MQVNAEEVVV GDLVEIKGGD RVPADLRIIS AHGCKVDNSS LTGESEPQTR SPDCTHDNPL
ETRNITFFST NCVEGTARGV VVATGDRTVM GRIATLASGL EVGKTPIAIE IEHFIQLITG
VAVFLGVSFF ILSLILGYTW LEAVIFLIGI IVANVPEGLL ATVTVCLTLT AKRMARKNCL
VKNLEAVETL GSTSTICSDK TGTLTQNRMT VAHMWFDNQI HEADTTEDQS GTSFDKSSHT
WVALSHIAGL CNRAVFKGGQ DNIPVLKRDV AGDASESALL KCIELSSGSV KLMRERNKKV
AEIPFNSTNK YQLSIHETED PNDNRYLLVM KGAPERILDR CSTILLQGKE QPLDEEMKEA
FQNAYLELGG LGERVLGFCH YYLPEEQFPK GFAFDCDDVN FTTDNLCFVG LMSMIDPPRA
AVPDAVGKCR SAGIKVIMVT GDHPITAKAI AKGVGIISEG NETVEDIAAR LNIPVSQVNP
RDAKACVIHG TDLKDFTSEQ IDEILQNHTE IVFARTSPQQ KLIIVEGCQR QGAIVAVTGD
GVNDSPALKK ADIGVAMGIA GSDVSKQAAD MILLDDNFAS IVTGVEEGRL IFDNLKKSIA
YTLTSNIPEI TPFLLFIMAN IPLPLGTITI LCIDLGTDMV PAISLAYEAA ESDIMKRQPR
NPRTDKLVNE RLISMAYGQI GMIQALGGFF SYFVILAENG FLPGNLVGIR LNWDDRTVND
LEDSYGQQWT YEQRKVVEFT CHTAFFVSIV VVQWADLIIC KTRRNSVFQQ GMKNKILIFG
LFEETALAAF LSYCPGMDVA LRMYPLKPSW WFCAFPYSFL IFVYDEIRKL ILRRNPGGWV
EKETYY*
mutated AA sequence MGSGGSDSYR IATSQDKKDD KDSPKKNKGK ERRDLDDLKK EVAMTEHKMS VEEVCRKYNT
DCVQGLTHSK AQEILARDGP NALTPPPTTP EWVKFCRQLF GGFSILLWIG AILCFLAYGI
QAGTEDDPSG DNLYLGIVLA AVVIITGCFS YYQEAKSSKI MESFKNMVPQ QALVIREGEK
MQVNAEEVVV GDLVEIKGGD RVPADLRIIS AHGCKVDNSS LTGESEPQTR SPDCTHDNPL
ETRNITFFST NCVEGTARGV VVATGDRTVM GRIATLASGL EVGKTPIAIE IEHFIQLITG
VAVFLGVSFF ILSLILGYTW LEAVIFLIGI IVANVPEGLL ATVTVCLTLT AKRMARKNCL
VKNLEAVETL GSTSTICSDK TGTLTQNRMT VAHMWFDNQI HEADTTEDQS GTSFDKSSHT
WVALSHIAGL CNRAVFKGGQ DNIPVLKRDV AGDASESALL KCIELSSGSV KLMRERNKKV
AEIPFNSTNK YQLSIHETED PNDNRYLLVM KGAPERILDR CSTILLQGKE QPLDEEMKEA
FQNAYLELGG LGERVLGFCH YYLPEEQFPK GFAFDCDDVN FTTDNLCFVG LMSMIDPPRA
AVPDAVGKCR SAGIKVIMVT GDHPITAKAI AKGVGIISEG NETVEDIAAR LNIPVSQVNP
RDAKACVIHG TDLKDFTSEQ IDEILQNHTE IVFARTSPQQ KLIIVEGCQR QGAIVAVTGD
GVNDSPALKK ADIGVAMGIA GSDVSKQAAD MILLDDNFAS IVTGVEEGRL SFDNLKKSIA
YTLTSNIPEI TPFLLFIMAN IPLPLGTITI LCIDLGTDMV PAISLAYEAA ESDIMKRQPR
NPRTDKLVNE RLISMAYGQI GMIQALGGFF SYFVILAENG FLPGNLVGIR LNWDDRTVND
LEDSYGQQWT YEQRKVVEFT CHTAFFVSIV VVQWADLIIC KTRRNSVFQQ GMKNKILIFG
LFEETALAAF LSYCPGMDVA LRMYPLKPSW WFCAFPYSFL IFVYDEIRKL ILRRNPGGWV
EKETYY*
speed 0.86 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

disease causing

 Model: simple_aae, prob: 0.999999998383051 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM042306)
  • known disease mutation: rs12912 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:42474685A>CN/A show variant in all transcripts   IGV
HGNC symbol ATP1A3
Ensembl transcript ID ENST00000543770
Genbank transcript ID NM_001256213
UniProt peptide P13637
alteration type single base exchange
alteration region CDS
DNA changes c.2306T>G
cDNA.2342T>G
g.23700T>G
AA changes I769S Score: 142 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 769
frameshift no
known variant Reference ID: rs80356535
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs12912 (pathogenic for Dystonia 12) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM042306)

known disease mutation at this position, please check HGMD for details (HGMD ID CM042306)
known disease mutation at this position, please check HGMD for details (HGMD ID CM042306)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.2841
3.9911
(flanking)3.9911
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      769SIVTGVEEGRLIFDNLKKSIAYTL
mutated  not conserved    769SIVTGVEEGRLSFDNLKKSIAYT
Ptroglodytes  no alignment  ENSPTRG00000011041  n/a
Mmulatta  all identical  ENSMMUG00000017427  758SIVTGVEEGRLIFDNLKKSIAYT
Fcatus  all identical  ENSFCAG00000012729  658EGRLIFDNLKKSIAYT
Mmusculus  all identical  ENSMUSG00000040907  758SIVTGVEEGRLIFDNLKKSIAYT
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000008243  765SIVTGVEEGRLIFDNLKKSIAYT
Drerio  all identical  ENSDARG00000018259  768SIVTGVEEGRLIFDNLKKSIAYT
Dmelanogaster  all identical  FBgn0002921  786SIVTGVEEGRLIFDNLKKSIAYT
Celegans  all identical  B0365.3  741SIVVGVEEGRLIFDNLKKSIAYT
Xtropicalis  all identical  ENSXETG00000023811  770SIVTGVEEGRLIFDNLKKSIAYT
protein features
start (aa)end (aa)featuredetails 
763782TRANSMEMHelical; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3075 / 3075
position (AA) of stopcodon in wt / mu AA sequence 1025 / 1025
position of stopcodon in wt / mu cDNA 3111 / 3111
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 37 / 37
chromosome 19
strand -1
last intron/exon boundary 3083
theoretical NMD boundary in CDS 2996
length of CDS 3075
coding sequence (CDS) position 2306
cDNA position
(for ins/del: last normal base / first normal base)		 2342
gDNA position
(for ins/del: last normal base / first normal base)		 23700
chromosomal position
(for ins/del: last normal base / first normal base)		 42474685
original gDNA sequence snippet CTGTGCCACAGGCCGCCTGATCTTCGACAACCTAAAGAAGT
altered gDNA sequence snippet CTGTGCCACAGGCCGCCTGAGCTTCGACAACCTAAAGAAGT
original cDNA sequence snippet GGTGGAGGAGGGCCGCCTGATCTTCGACAACCTAAAGAAGT
altered cDNA sequence snippet GGTGGAGGAGGGCCGCCTGAGCTTCGACAACCTAAAGAAGT
wildtype AA sequence MGGWEEERNR RATDKKDDKD SPKKNKGKER RDLDDLKKEV AMTEHKMSVE EVCRKYNTDC
VQGLTHSKAQ EILARDGPNA LTPPPTTPEW VKFCRQLFGG FSILLWIGAI LCFLAYGIQA
GTEDDPSGDN LYLGIVLAAV VIITGCFSYY QEAKSSKIME SFKNMVPQQA LVIREGEKMQ
VNAEEVVVGD LVEIKGGDRV PADLRIISAH GCKVDNSSLT GESEPQTRSP DCTHDNPLET
RNITFFSTNC VEGTARGVVV ATGDRTVMGR IATLASGLEV GKTPIAIEIE HFIQLITGVA
VFLGVSFFIL SLILGYTWLE AVIFLIGIIV ANVPEGLLAT VTVCLTLTAK RMARKNCLVK
NLEAVETLGS TSTICSDKTG TLTQNRMTVA HMWFDNQIHE ADTTEDQSGT SFDKSSHTWV
ALSHIAGLCN RAVFKGGQDN IPVLKRDVAG DASESALLKC IELSSGSVKL MRERNKKVAE
IPFNSTNKYQ LSIHETEDPN DNRYLLVMKG APERILDRCS TILLQGKEQP LDEEMKEAFQ
NAYLELGGLG ERVLGFCHYY LPEEQFPKGF AFDCDDVNFT TDNLCFVGLM SMIDPPRAAV
PDAVGKCRSA GIKVIMVTGD HPITAKAIAK GVGIISEGNE TVEDIAARLN IPVSQVNPRD
AKACVIHGTD LKDFTSEQID EILQNHTEIV FARTSPQQKL IIVEGCQRQG AIVAVTGDGV
NDSPALKKAD IGVAMGIAGS DVSKQAADMI LLDDNFASIV TGVEEGRLIF DNLKKSIAYT
LTSNIPEITP FLLFIMANIP LPLGTITILC IDLGTDMVPA ISLAYEAAES DIMKRQPRNP
RTDKLVNERL ISMAYGQIGM IQALGGFFSY FVILAENGFL PGNLVGIRLN WDDRTVNDLE
DSYGQQWTYE QRKVVEFTCH TAFFVSIVVV QWADLIICKT RRNSVFQQGM KNKILIFGLF
EETALAAFLS YCPGMDVALR MYPLKPSWWF CAFPYSFLIF VYDEIRKLIL RRNPGGWVEK
ETYY*
mutated AA sequence MGGWEEERNR RATDKKDDKD SPKKNKGKER RDLDDLKKEV AMTEHKMSVE EVCRKYNTDC
VQGLTHSKAQ EILARDGPNA LTPPPTTPEW VKFCRQLFGG FSILLWIGAI LCFLAYGIQA
GTEDDPSGDN LYLGIVLAAV VIITGCFSYY QEAKSSKIME SFKNMVPQQA LVIREGEKMQ
VNAEEVVVGD LVEIKGGDRV PADLRIISAH GCKVDNSSLT GESEPQTRSP DCTHDNPLET
RNITFFSTNC VEGTARGVVV ATGDRTVMGR IATLASGLEV GKTPIAIEIE HFIQLITGVA
VFLGVSFFIL SLILGYTWLE AVIFLIGIIV ANVPEGLLAT VTVCLTLTAK RMARKNCLVK
NLEAVETLGS TSTICSDKTG TLTQNRMTVA HMWFDNQIHE ADTTEDQSGT SFDKSSHTWV
ALSHIAGLCN RAVFKGGQDN IPVLKRDVAG DASESALLKC IELSSGSVKL MRERNKKVAE
IPFNSTNKYQ LSIHETEDPN DNRYLLVMKG APERILDRCS TILLQGKEQP LDEEMKEAFQ
NAYLELGGLG ERVLGFCHYY LPEEQFPKGF AFDCDDVNFT TDNLCFVGLM SMIDPPRAAV
PDAVGKCRSA GIKVIMVTGD HPITAKAIAK GVGIISEGNE TVEDIAARLN IPVSQVNPRD
AKACVIHGTD LKDFTSEQID EILQNHTEIV FARTSPQQKL IIVEGCQRQG AIVAVTGDGV
NDSPALKKAD IGVAMGIAGS DVSKQAADMI LLDDNFASIV TGVEEGRLSF DNLKKSIAYT
LTSNIPEITP FLLFIMANIP LPLGTITILC IDLGTDMVPA ISLAYEAAES DIMKRQPRNP
RTDKLVNERL ISMAYGQIGM IQALGGFFSY FVILAENGFL PGNLVGIRLN WDDRTVNDLE
DSYGQQWTYE QRKVVEFTCH TAFFVSIVVV QWADLIICKT RRNSVFQQGM KNKILIFGLF
EETALAAFLS YCPGMDVALR MYPLKPSWWF CAFPYSFLIF VYDEIRKLIL RRNPGGWVEK
ETYY*
speed 0.70 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