Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.750758533413046 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:19413261T>AN/A show variant in all transcripts   IGV
HGNC symbol UBR4
Ensembl transcript ID ENST00000375217
Genbank transcript ID N/A
UniProt peptide Q5T4S7
alteration type single base exchange
alteration region CDS
DNA changes c.14578A>T
cDNA.14582A>T
g.123510A>T
AA changes M4860L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS
4860
frameshift no
known variant Reference ID: rs12584
databasehomozygous (A/A)heterozygousallele carriers
1000G93611402076
ExAC21187-960711580
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.4681
0.3220.999
(flanking)1.3171
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased123503wt: 0.73 / mu: 0.92wt: GCCTTGGAGGAGATG
mu: GCCTTGGAGGAGTTG
 CTTG|gagg
distance from splice site 55
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      4860YTFTKRVALEEMENKPRKQQGYST
mutated  all conserved    4860YTFTKRVALEELENKPRKQQGYS
Ptroglodytes  all identical  ENSPTRG00000000257  4867YTFTKRVALEEMENKPRKQQGYS
Mmulatta  all identical  ENSMMUG00000006669  4140YTFTKRVALEEMENKPRKQQGYS
Fcatus  all identical  ENSFCAG00000008769  4805YTFTKRVALEEMENKPRKQQGYS
Mmusculus  all identical  ENSMUSG00000066036  4864YTFTKRVALEEMENKPRKQQGYS
Ggallus  not conserved  ENSGALG00000003910  4885YTFTKRVALEEFENKPRKQQGYS
Trubripes  not conserved  ENSTRUG00000015441  4854YTFTKRVFLEDFENKPRKQQGYS
Drerio  not conserved  ENSDARG00000009549  4836YTFTKRVSLEEFENKPRKQQGYS
Dmelanogaster  not conserved  FBgn0011230  4995YTFTKRCNVEEFELKSRKTIGYT
Celegans  not conserved  C44E4.1  2449YAF---AAIDPDSGKT------S
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 15531 / 15531
position (AA) of stopcodon in wt / mu AA sequence 5177 / 5177
position of stopcodon in wt / mu cDNA 15535 / 15535
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 5 / 5
chromosome 1
strand -1
last intron/exon boundary 15471
theoretical NMD boundary in CDS 15416
length of CDS 15531
coding sequence (CDS) position 14578
cDNA position
(for ins/del: last normal base / first normal base)
14582
gDNA position
(for ins/del: last normal base / first normal base)
123510
chromosomal position
(for ins/del: last normal base / first normal base)
19413261
original gDNA sequence snippet AGCGGGTAGCCTTGGAGGAGATGGAGAATAAGCCCCGGAAA
altered gDNA sequence snippet AGCGGGTAGCCTTGGAGGAGTTGGAGAATAAGCCCCGGAAA
original cDNA sequence snippet AGCGGGTAGCCTTGGAGGAGATGGAGAATAAGCCCCGGAAA
altered cDNA sequence snippet AGCGGGTAGCCTTGGAGGAGTTGGAGAATAAGCCCCGGAAA
wildtype AA sequence MATSGGEEAA AAAPAPGTPA TGADTTPGWE VAVRPLLSAS YSAFEMKELP QLVASVIESE
SEILHHEKQY EPFYSSFVAL STHYITTVCS LIPRNQLQSV AAACKVLIEF SLLRLENPDE
ACAVSQKHLI LLIKGLCTGC SRLDRTEIIT FTAMMKSAKL PQTVKTLSDV EDQKELASPV
SPELRQKEVQ MNFLNQLTSV FNPRTVASQP ISTQTLVEGE NDEQSSTDQA SAIKTKNVFI
AQNVASLQEL GGSEKLLRVC LNLPYFLRYI NRFQDAVLAN SFFIMPATVA DATAVRNGFH
SLVIDVTMAL DTLSLPVLEP LNPSRLQDVT VLSLSCLYAG VSVATCMAIL HVGSAQQVRT
GSTSSKEDDY ESDAATIVQK CLEIYDMIGQ AISSSRRAGG EHYQNFQLLG AWCLLNSLFL
ILNLSPTALA DKGKEKDPLA ALRVRDILSR TKEGVGSPKL GPGKGHQGFG VLSVILANHA
IKLLTSLFQD LQVEALHKGW ETDGPPAALS IMAQSTSIQR IQRLIDSVPL MNLLLTLLST
SYRKACVLQR QRKGSMSSDA SASTDSNTYY EDDFSSTEED SSQDDDSEPI LGQWFEETIS
PSKEKAAPPP PPPPPPLESS PRVKSPSKQA PGEKGNILAS RKDPELFLGL ASNILNFITS
SMLNSRNNFI RNYLSVSLSE HHMATLASII KEVDKDGLKG SSDEEFAAAL YHFNHSLVTS
DLQSPNLQNT LLQQLGVAPF SEGPWPLYIH PQSLSVLSRL LLIWQHKASA QGDPDVPECL
KVWDRFLSTM KQNALQGVVP SETEDLNVEH LQMLLLIFHN FTETGRRAIL SLFVQIIQEL
SVNMDAQMRF VPLILARLLL IFDYLLHQYS KAPVYLFEQV QHNLLSPPFG WASGSQDSNS
RRATTPLYHG FKEVEENWSK HFSSDAVPHP RFYCVLSPEA SEDDLNRLDS VACDVLFSKL
VKYDELYAAL TALLAAGSQL DTVRRKENKN VTALEACALQ YYFLILWRIL GILPPSKTYI
NQLSMNSPEM SECDILHTLR WSSRLRISSY VNWIKDHLIK QGMKAEHASS LLELASTTKC
SSVKYDVEIV EEYFARQISS FCSIDCTTIL QLHEIPSLQS IYTLDAAISK VQVSLDEHFS
KMAAETDPHK SSEITKNLLP ATLQLIDTYA SFTRAYLLQN FNEEGTTEKP SKEKLQGFAA
VLAIGSSRCK ANTLGPTLVQ NLPSSVQTVC ESWNNINTNE FPNIGSWRNA FANDTIPSES
YISAVQAAHL GTLCSQSLPL AASLKHTLLS LVRLTGDLIV WSDEMNPPQV IRTLLPLLLE
SSTESVAEIS SNSLERILGP AESDEFLARV YEKLITGCYN ILANHADPNS GLDESILEEC
LQYLEKQLES SQARKAMEEF FSDSGELVQI MMATANENLS AKFCNRVLKF FTKLFQLTEK
SPNPSLLHLC GSLAQLACVE PVRLQAWLTR MTTSPPKDSD QLDVIQENRQ LLQLLTTYIV
RENSQVGEGV CAVLLGTLTP MATEMLANGD GTGFPELMVV MATLASAGQG AGHLQLHNAA
VDWLSRCKKY LSQKNVVEKL NANVMHGKHV MILECTCHIM SYLADVTNAL SQSNGQGPSH
LSVDGEERAI EVDSDWVEEL AVEEEDSQAE DSDEDSLCNK LCTFTITQKE FMNQHWYHCH
TCKMVDGVGV CTVCAKVCHK DHEISYAKYG SFFCDCGAKE DGSCLALVKR TPSSGMSSTM
KESAFQSEPR ISESLVRHAS TSSPADKAKV TISDGKVADE EKPKKSSLCR TVEGCREELQ
NQANFSFAPL VLDMLNFLMD AIQTNFQQAS AVGSSSRAQQ ALSELHTVEK AVEMTDQLMV
PTLGSQEGAF ENVRMNYSGD QGQTIRQLIS AHVLRRVAMC VLSSPHGRRQ HLAVSHEKGK
ITVLQLSALL KQADSSKRKL TLTRLASAPV PFTVLSLTGN PCKEDYLAVC GLKDCHVLTF
SSSGSVSDHL VLHPQLATGN FIIKAVWLPG SQTELAIVTA DFVKIYDLCV DALSPTFYFL
LPSSKIRDVT FLFNEEGKNI IVIMSSAGYI YTQLMEEASS AQQGPFYVTN VLEINHEDLK
DSNSQVAGGG VSVYYSHVLQ MLFFSYCQGK SFAATISRTT LEVLQLFPIN IKSSNGGSKT
SPALCQWSEV MNHPGLVCCV QQTTGVPLVV MVKPDTFLIQ EIKTLPAKAK IQDMVAIRHT
ACNEQQRTTM ILLCEDGSLR IYMANVENTS YWLQPSLQPS SVISIMKPVR KRKTATITTR
TSSQVTFPID FFEHNQQLTD VEFGGNDLLQ VYNAQQIKHR LNSTGMYVAN TKPGGFTIEI
SNNNSTMVMT GMRIQIGTQA IERAPSYIEI FGRTMQLNLS RSRWFDFPFT REEALQADKK
LNLFIGASVD PAGVTMIDAV KIYGKTKEQF GWPDEPPEEF PSASVSNICP SNLNQSNGTG
DSDSAAPTTT SGTVLERLVV SSLEALESCF AVGPIIEKER NKNAAQELAT LLLSLPAPAS
VQQQSKSLLA SLHTSRSAYH SHKDQALLSK AVQCLNTSSK EGKDLDPEVF QRLVITARSI
AIMRPNNLVH FTESKLPQME TDCFFPRCAC WSLGIVGILI GAPLETPSPE GMDEGKEPQK
QLEGDCCSFI TQLVNHFWKL HASKPKNAFL APACLPGLTH IEATVNALVD IIHGYCTCEL
DCINTASKIY MQMLLCPDPA VSFSCKQALI RVLRPRNKRR HVTLPSSPRS NTPMGDKDDD
DDDDADEKMQ SSGIPNGGHI RQESQEQSEV DHGDFEMVSE SMVLETAENV NNGNPSPLEA
LLAGAEGFPP MLDIPPDADD ETMVELAIAL SLQQDQQAPA SDDEGSTAAT DGSTLRTSPA
DHGGSVGSES GGSAVDSVAG EHSVSGRSSA YGDATAEGHP AGPGSVSSST GAISTTTGHQ
EGDGSEGEGE GETEGDVHTS NRLHMVRLML LERLLQTLPQ LRNVGGVRAI PYMQVILMLT
TDLDGEDEKD KGALDNLLSQ LIAELGMDKK DVSKKNERSA LNEVHLVVMR LLSVFMSRTK
SGSKSSICES SSLISSATAA ALLSSGAVDY CLHVLKSLLE YWKSQQNDEE PVATSQLLKP
HTTSSPPDMS PFFLRQYVKG HAADVFEAYT QLLTEMVLRL PYQIKKITDT NSRIPPPVFD
HSWFYFLSEY LMIQQTPFVR RQVRKLLLFI CGSKEKYRQL RDLHTLDSHV RGIKKLLEEQ
GIFLRASVVT ASSGSALQYD TLISLMEHLK ACAEIAAQRT INWQKFCIKD DSVLYFLLQV
SFLVDEGVSP VLLQLLSCAL CGSKVLAALA ASSGSSSASS SSAPVAASSG QATTQSKSST
KKSKKEEKEK EKDGETSGSQ EDQLCTALVN QLNKFADKET LIQFLRCFLL ESNSSSVRWQ
AHCLTLHIYR NSSKSQQELL LDLMWSIWPE LPAYGRKAAQ FVDLLGYFSL KTPQTEKKLK
EYSQKAVEIL RTQNHILTNH PNSNIYNTLS GLVEFDGYYL ESDPCLVCNN PEVPFCYIKL
SSIKVDTRYT TTQQVVKLIG SHTISKVTVK IGDLKRTKMV RTINLYYNNR TVQAIVELKN
KPARWHKAKK VQLTPGQTEV KIDLPLPIVA SNLMIEFADF YENYQASTET LQCPRCSASV
PANPGVCGNC GENVYQCHKC RSINYDEKDP FLCNACGFCK YARFDFMLYA KPCCAVDPIE
NEEDRKKAVS NINTLLDKAD RVYHQLMGHR PQLENLLCKV NEAAPEKPQD DSGTAGGISS
TSASVNRYIL QLAQEYCGDC KNSFDELSKI IQKVFASRKE LLEYDLQQRE AATKSSRTSV
QPTFTASQYR ALSVLGCGHT SSTKCYGCAS AVTEHCITLL RALATNPALR HILVSQGLIR
ELFDYNLRRG AAAMREEVRQ LMCLLTRDNP EATQQMNDLI IGKVSTALKG HWANPDLASS
LQYEMLLLTD SISKEDSCWE LRLRCALSLF LMAVNIKTPV VVENITLMCL RILQKLIKPP
APTSKKNKDV PVEALTTVKP YCNEIHAQAQ LWLKRDPKAS YDAWKKCLPI RGIDGNGKAP
SKSELRHLYL TEKYVWRWKQ FLSRRGKRTS PLDLKLGHNN WLRQVLFTPA TQAARQAACT
IVEALATIPS RKQQVLDLLT SYLDELSIAG ECAAEYLALY QKLITSAHWK VYLAARGVLP
YVGNLITKEI ARLLALEEAT LSTDLQQGYA LKSLTGLLSS FVEVESIKRH FKSRLVGTVL
NGYLCLRKLV VQRTKLIDET QDMLLEMLED MTTGTESETK AFMAVCIETA KRYNLDDYRT
PVFIFERLCS IIYPEENEVT EFFVTLEKDP QQEDFLQGRM PGNPYSSNEP GIGPLMRDIK
NKICQDCDLV ALLEDDSGME LLVNNKIISL DLPVAEVYKK VWCTTNEGEP MRIVYRMRGL
LGDATEEFIE SLDSTTDEEE DEEEVYKMAG VMAQCGGLEC MLNRLAGIRD FKQGRHLLTV
LLKLFSYCVK VKVNRQQLVK LEMNTLNVML GTLNLALVAE QESKDSGGAA VAEQVLSIME
IILDESNAEP LSEDKGNLLL TGDKDQLVML LDQINSTFVR SNPSVLQGLL RIIPYLSFGE
VEKMQILVER FKPYCNFDKY DEDHSGDDKV FLDCFCKIAA GIKNNSNGHQ LKDLILQKGI
TQNALDYMKK HIPSAKNLDA DIWKKFLSRP ALPFILRLLR GLAIQHPGTQ VLIGTDSIPN
LHKLEQVSSD EGIGTLAENL LEALREHPDV NKKIDAARRE TRAEKKRMAM AMRQKALGTL
GMTTNEKGQV VTKTALLKQM EELIEEPGLT CCICREGYKF QPTKVLGIYT FTKRVALEEM
ENKPRKQQGY STVSHFNIVH YDCHLAAVRL ARGREEWESA ALQNANTKCN GLLPVWGPHV
PESAFATCLA RHNTYLQECT GQREPTYQLN IHDIKLLFLR FAMEQSFSAD TGGGGRESNI
HLIPYIIHTV LYVLNTTRAT SREEKNLQGF LEQPKEKWVE SAFEVDGPYY FTVLALHILP
PEQWRATRVE ILRRLLVTSQ ARAVAPGGAT RLTDKAVKDY SAYRSSLLFW ALVDLIYNMF
KKVPTSNTEG GWSCSLAEYI RHNDMPIYEA ADKALKTFQE EFMPVETFSE FLDVAGLLSE
ITDPESFLKD LLNSVP*
mutated AA sequence MATSGGEEAA AAAPAPGTPA TGADTTPGWE VAVRPLLSAS YSAFEMKELP QLVASVIESE
SEILHHEKQY EPFYSSFVAL STHYITTVCS LIPRNQLQSV AAACKVLIEF SLLRLENPDE
ACAVSQKHLI LLIKGLCTGC SRLDRTEIIT FTAMMKSAKL PQTVKTLSDV EDQKELASPV
SPELRQKEVQ MNFLNQLTSV FNPRTVASQP ISTQTLVEGE NDEQSSTDQA SAIKTKNVFI
AQNVASLQEL GGSEKLLRVC LNLPYFLRYI NRFQDAVLAN SFFIMPATVA DATAVRNGFH
SLVIDVTMAL DTLSLPVLEP LNPSRLQDVT VLSLSCLYAG VSVATCMAIL HVGSAQQVRT
GSTSSKEDDY ESDAATIVQK CLEIYDMIGQ AISSSRRAGG EHYQNFQLLG AWCLLNSLFL
ILNLSPTALA DKGKEKDPLA ALRVRDILSR TKEGVGSPKL GPGKGHQGFG VLSVILANHA
IKLLTSLFQD LQVEALHKGW ETDGPPAALS IMAQSTSIQR IQRLIDSVPL MNLLLTLLST
SYRKACVLQR QRKGSMSSDA SASTDSNTYY EDDFSSTEED SSQDDDSEPI LGQWFEETIS
PSKEKAAPPP PPPPPPLESS PRVKSPSKQA PGEKGNILAS RKDPELFLGL ASNILNFITS
SMLNSRNNFI RNYLSVSLSE HHMATLASII KEVDKDGLKG SSDEEFAAAL YHFNHSLVTS
DLQSPNLQNT LLQQLGVAPF SEGPWPLYIH PQSLSVLSRL LLIWQHKASA QGDPDVPECL
KVWDRFLSTM KQNALQGVVP SETEDLNVEH LQMLLLIFHN FTETGRRAIL SLFVQIIQEL
SVNMDAQMRF VPLILARLLL IFDYLLHQYS KAPVYLFEQV QHNLLSPPFG WASGSQDSNS
RRATTPLYHG FKEVEENWSK HFSSDAVPHP RFYCVLSPEA SEDDLNRLDS VACDVLFSKL
VKYDELYAAL TALLAAGSQL DTVRRKENKN VTALEACALQ YYFLILWRIL GILPPSKTYI
NQLSMNSPEM SECDILHTLR WSSRLRISSY VNWIKDHLIK QGMKAEHASS LLELASTTKC
SSVKYDVEIV EEYFARQISS FCSIDCTTIL QLHEIPSLQS IYTLDAAISK VQVSLDEHFS
KMAAETDPHK SSEITKNLLP ATLQLIDTYA SFTRAYLLQN FNEEGTTEKP SKEKLQGFAA
VLAIGSSRCK ANTLGPTLVQ NLPSSVQTVC ESWNNINTNE FPNIGSWRNA FANDTIPSES
YISAVQAAHL GTLCSQSLPL AASLKHTLLS LVRLTGDLIV WSDEMNPPQV IRTLLPLLLE
SSTESVAEIS SNSLERILGP AESDEFLARV YEKLITGCYN ILANHADPNS GLDESILEEC
LQYLEKQLES SQARKAMEEF FSDSGELVQI MMATANENLS AKFCNRVLKF FTKLFQLTEK
SPNPSLLHLC GSLAQLACVE PVRLQAWLTR MTTSPPKDSD QLDVIQENRQ LLQLLTTYIV
RENSQVGEGV CAVLLGTLTP MATEMLANGD GTGFPELMVV MATLASAGQG AGHLQLHNAA
VDWLSRCKKY LSQKNVVEKL NANVMHGKHV MILECTCHIM SYLADVTNAL SQSNGQGPSH
LSVDGEERAI EVDSDWVEEL AVEEEDSQAE DSDEDSLCNK LCTFTITQKE FMNQHWYHCH
TCKMVDGVGV CTVCAKVCHK DHEISYAKYG SFFCDCGAKE DGSCLALVKR TPSSGMSSTM
KESAFQSEPR ISESLVRHAS TSSPADKAKV TISDGKVADE EKPKKSSLCR TVEGCREELQ
NQANFSFAPL VLDMLNFLMD AIQTNFQQAS AVGSSSRAQQ ALSELHTVEK AVEMTDQLMV
PTLGSQEGAF ENVRMNYSGD QGQTIRQLIS AHVLRRVAMC VLSSPHGRRQ HLAVSHEKGK
ITVLQLSALL KQADSSKRKL TLTRLASAPV PFTVLSLTGN PCKEDYLAVC GLKDCHVLTF
SSSGSVSDHL VLHPQLATGN FIIKAVWLPG SQTELAIVTA DFVKIYDLCV DALSPTFYFL
LPSSKIRDVT FLFNEEGKNI IVIMSSAGYI YTQLMEEASS AQQGPFYVTN VLEINHEDLK
DSNSQVAGGG VSVYYSHVLQ MLFFSYCQGK SFAATISRTT LEVLQLFPIN IKSSNGGSKT
SPALCQWSEV MNHPGLVCCV QQTTGVPLVV MVKPDTFLIQ EIKTLPAKAK IQDMVAIRHT
ACNEQQRTTM ILLCEDGSLR IYMANVENTS YWLQPSLQPS SVISIMKPVR KRKTATITTR
TSSQVTFPID FFEHNQQLTD VEFGGNDLLQ VYNAQQIKHR LNSTGMYVAN TKPGGFTIEI
SNNNSTMVMT GMRIQIGTQA IERAPSYIEI FGRTMQLNLS RSRWFDFPFT REEALQADKK
LNLFIGASVD PAGVTMIDAV KIYGKTKEQF GWPDEPPEEF PSASVSNICP SNLNQSNGTG
DSDSAAPTTT SGTVLERLVV SSLEALESCF AVGPIIEKER NKNAAQELAT LLLSLPAPAS
VQQQSKSLLA SLHTSRSAYH SHKDQALLSK AVQCLNTSSK EGKDLDPEVF QRLVITARSI
AIMRPNNLVH FTESKLPQME TDCFFPRCAC WSLGIVGILI GAPLETPSPE GMDEGKEPQK
QLEGDCCSFI TQLVNHFWKL HASKPKNAFL APACLPGLTH IEATVNALVD IIHGYCTCEL
DCINTASKIY MQMLLCPDPA VSFSCKQALI RVLRPRNKRR HVTLPSSPRS NTPMGDKDDD
DDDDADEKMQ SSGIPNGGHI RQESQEQSEV DHGDFEMVSE SMVLETAENV NNGNPSPLEA
LLAGAEGFPP MLDIPPDADD ETMVELAIAL SLQQDQQAPA SDDEGSTAAT DGSTLRTSPA
DHGGSVGSES GGSAVDSVAG EHSVSGRSSA YGDATAEGHP AGPGSVSSST GAISTTTGHQ
EGDGSEGEGE GETEGDVHTS NRLHMVRLML LERLLQTLPQ LRNVGGVRAI PYMQVILMLT
TDLDGEDEKD KGALDNLLSQ LIAELGMDKK DVSKKNERSA LNEVHLVVMR LLSVFMSRTK
SGSKSSICES SSLISSATAA ALLSSGAVDY CLHVLKSLLE YWKSQQNDEE PVATSQLLKP
HTTSSPPDMS PFFLRQYVKG HAADVFEAYT QLLTEMVLRL PYQIKKITDT NSRIPPPVFD
HSWFYFLSEY LMIQQTPFVR RQVRKLLLFI CGSKEKYRQL RDLHTLDSHV RGIKKLLEEQ
GIFLRASVVT ASSGSALQYD TLISLMEHLK ACAEIAAQRT INWQKFCIKD DSVLYFLLQV
SFLVDEGVSP VLLQLLSCAL CGSKVLAALA ASSGSSSASS SSAPVAASSG QATTQSKSST
KKSKKEEKEK EKDGETSGSQ EDQLCTALVN QLNKFADKET LIQFLRCFLL ESNSSSVRWQ
AHCLTLHIYR NSSKSQQELL LDLMWSIWPE LPAYGRKAAQ FVDLLGYFSL KTPQTEKKLK
EYSQKAVEIL RTQNHILTNH PNSNIYNTLS GLVEFDGYYL ESDPCLVCNN PEVPFCYIKL
SSIKVDTRYT TTQQVVKLIG SHTISKVTVK IGDLKRTKMV RTINLYYNNR TVQAIVELKN
KPARWHKAKK VQLTPGQTEV KIDLPLPIVA SNLMIEFADF YENYQASTET LQCPRCSASV
PANPGVCGNC GENVYQCHKC RSINYDEKDP FLCNACGFCK YARFDFMLYA KPCCAVDPIE
NEEDRKKAVS NINTLLDKAD RVYHQLMGHR PQLENLLCKV NEAAPEKPQD DSGTAGGISS
TSASVNRYIL QLAQEYCGDC KNSFDELSKI IQKVFASRKE LLEYDLQQRE AATKSSRTSV
QPTFTASQYR ALSVLGCGHT SSTKCYGCAS AVTEHCITLL RALATNPALR HILVSQGLIR
ELFDYNLRRG AAAMREEVRQ LMCLLTRDNP EATQQMNDLI IGKVSTALKG HWANPDLASS
LQYEMLLLTD SISKEDSCWE LRLRCALSLF LMAVNIKTPV VVENITLMCL RILQKLIKPP
APTSKKNKDV PVEALTTVKP YCNEIHAQAQ LWLKRDPKAS YDAWKKCLPI RGIDGNGKAP
SKSELRHLYL TEKYVWRWKQ FLSRRGKRTS PLDLKLGHNN WLRQVLFTPA TQAARQAACT
IVEALATIPS RKQQVLDLLT SYLDELSIAG ECAAEYLALY QKLITSAHWK VYLAARGVLP
YVGNLITKEI ARLLALEEAT LSTDLQQGYA LKSLTGLLSS FVEVESIKRH FKSRLVGTVL
NGYLCLRKLV VQRTKLIDET QDMLLEMLED MTTGTESETK AFMAVCIETA KRYNLDDYRT
PVFIFERLCS IIYPEENEVT EFFVTLEKDP QQEDFLQGRM PGNPYSSNEP GIGPLMRDIK
NKICQDCDLV ALLEDDSGME LLVNNKIISL DLPVAEVYKK VWCTTNEGEP MRIVYRMRGL
LGDATEEFIE SLDSTTDEEE DEEEVYKMAG VMAQCGGLEC MLNRLAGIRD FKQGRHLLTV
LLKLFSYCVK VKVNRQQLVK LEMNTLNVML GTLNLALVAE QESKDSGGAA VAEQVLSIME
IILDESNAEP LSEDKGNLLL TGDKDQLVML LDQINSTFVR SNPSVLQGLL RIIPYLSFGE
VEKMQILVER FKPYCNFDKY DEDHSGDDKV FLDCFCKIAA GIKNNSNGHQ LKDLILQKGI
TQNALDYMKK HIPSAKNLDA DIWKKFLSRP ALPFILRLLR GLAIQHPGTQ VLIGTDSIPN
LHKLEQVSSD EGIGTLAENL LEALREHPDV NKKIDAARRE TRAEKKRMAM AMRQKALGTL
GMTTNEKGQV VTKTALLKQM EELIEEPGLT CCICREGYKF QPTKVLGIYT FTKRVALEEL
ENKPRKQQGY STVSHFNIVH YDCHLAAVRL ARGREEWESA ALQNANTKCN GLLPVWGPHV
PESAFATCLA RHNTYLQECT GQREPTYQLN IHDIKLLFLR FAMEQSFSAD TGGGGRESNI
HLIPYIIHTV LYVLNTTRAT SREEKNLQGF LEQPKEKWVE SAFEVDGPYY FTVLALHILP
PEQWRATRVE ILRRLLVTSQ ARAVAPGGAT RLTDKAVKDY SAYRSSLLFW ALVDLIYNMF
KKVPTSNTEG GWSCSLAEYI RHNDMPIYEA ADKALKTFQE EFMPVETFSE FLDVAGLLSE
ITDPESFLKD LLNSVP*
speed 1.12 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