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: ENST00000389536
Querying Taster for transcript #2: ENST00000351747
MT speed 0 s - this script 2.277801 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
DNAH12polymorphism_automatic0.00172770270915701simple_aaeaffectedT467Psingle base exchangers6806444show file
DNAH12polymorphism_automatic0.00172770270915701simple_aaeaffectedT467Psingle base exchangers6806444show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.998272297290843 (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) chr3:57475351T>GN/A show variant in all transcripts   IGV
HGNC symbol DNAH12
Ensembl transcript ID ENST00000389536
Genbank transcript ID N/A
UniProt peptide Q6ZR08
alteration type single base exchange
alteration region CDS
DNA changes c.1399A>C
cDNA.1580A>C
g.54721A>C
AA changes T467P Score: 38 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 467
frameshift no
known variant Reference ID: rs6806444
databasehomozygous (G/G)heterozygousallele carriers
1000G102011332153
ExAC561043059915
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8541
1.3460.994
(flanking)-0.0060.957
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased54727wt: 0.30 / mu: 0.68wt: AGTGGATTCATTACACTATGGTGCGTTTGGATTGTGAAGAT
mu: AGTGGATTCATTACCCTATGGTGCGTTTGGATTGTGAAGAT		 atgg|TGCG
Acc gained547300.53mu: GGATTCATTACCCTATGGTGCGTTTGGATTGTGAAGATTTG gtgc|GTTT
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      467EIMLLPQWIHYTMVRLDCEDLKTG
mutated  not conserved    467EIMLLPQWIHYPMVRLDCEDLKT
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000004881  n/a
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
11214REGIONStem (By similarity).lost
592665COILEDPotential.might get lost (downstream of altered splice site)
731762COILEDPotential.might get lost (downstream of altered splice site)
11251125CONFLICTS -> G (in Ref. 3; AAB09729).might get lost (downstream of altered splice site)
11701170CONFLICTH -> R (in Ref. 3; AAB09729).might get lost (downstream of altered splice site)
12151436REGIONAAA 1 (By similarity).might get lost (downstream of altered splice site)
12531260MOTIFGPAGTGKT motif.might get lost (downstream of altered splice site)
12531260NP_BINDATP (Potential).might get lost (downstream of altered splice site)
13031309MOTIFCFDEFNR motif.might get lost (downstream of altered splice site)
13101311CONFLICTIE -> NS (in Ref. 3; AAB09729).might get lost (downstream of altered splice site)
14961636REGIONAAA 2 (By similarity).might get lost (downstream of altered splice site)
15341541NP_BINDATP (Potential).might get lost (downstream of altered splice site)
18532104REGIONAAA 3 (By similarity).might get lost (downstream of altered splice site)
18921899NP_BINDATP (Potential).might get lost (downstream of altered splice site)
22182660REGIONAAA 4 (By similarity).might get lost (downstream of altered splice site)
22572264NP_BINDATP (Potential).might get lost (downstream of altered splice site)
26612795REGIONStalk (By similarity).might get lost (downstream of altered splice site)
28743051REGIONAAA 5 (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2355 / 2355
position (AA) of stopcodon in wt / mu AA sequence 785 / 785
position of stopcodon in wt / mu cDNA 2536 / 2536
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 182 / 182
chromosome 3
strand -1
last intron/exon boundary 2287
theoretical NMD boundary in CDS 2055
length of CDS 2355
coding sequence (CDS) position 1399
cDNA position
(for ins/del: last normal base / first normal base)		 1580
gDNA position
(for ins/del: last normal base / first normal base)		 54721
chromosomal position
(for ins/del: last normal base / first normal base)		 57475351
original gDNA sequence snippet TGCCTCAGTGGATTCATTACACTATGGTGCGTTTGGATTGT
altered gDNA sequence snippet TGCCTCAGTGGATTCATTACCCTATGGTGCGTTTGGATTGT
original cDNA sequence snippet TGCCTCAGTGGATTCATTACACTATGGTGCGTTTGGATTGT
altered cDNA sequence snippet TGCCTCAGTGGATTCATTACCCTATGGTGCGTTTGGATTGT
wildtype AA sequence MSDANKAAIA AEKEALNLKL PPIVHLPENI GVDTPTQSKL LKYRRSKEQQ QKINQLVIDG
AKRNLDRTLG KRTPLLPPPD YPQTMTSEMK KKGFNYIYMK QCVESSPLVP IQQEWLDHML
RLIPESLKEG KEREELLESL INEVSSDFEN SMKRYLVQSV LVKPPVKSLE DEGGPLPESP
VGLDYSNPWH SSYVQARNQI FSNLHIIHPT MKMLLDLGYT TFADTVLLDF TGIRAKGPID
CESLKTDLSI QTRNAEEKIM NTWYPKVINL FTKKEALEGV KPEKLDAFYS CVSTLMSNQL
KDLLRRTVEG FVKLFDPKDQ QRLPIFKIEL TFDDDKMEFY PTFQDLEDNV LSLVERIAEA
LQNVQTIPSW LSGTSTPVNL DTELPEHVLH WAVDTLKAAV HRNLEGARKH YETYVEKYNW
LLDGTAVENI ETFQTEDHTF DEYTEFIEKF LSLASEIMLL PQWIHYTMVR LDCEDLKTGL
TNKAKAFANI LLNDIASKYR KENECICSEF EAIKEHALKV PETTEEMMDL ISYVEKARTV
GIEELILRIQ ESKRQMSYFL DVFLFPQEDL ALNATVLMWP RKINPIFDEN DELIENAKHK
KENELMAKRE KLILEIEKES RRMEEFTEFA ELERMQQYVT DVRQLQKRIQ ESEEAVQFIN
KEEELFKWEL TKYPELDKLK VNIEPYQKFF NFVLKWQRSE KRWMDGGFLD LNGESMEADV
EEFSREIFKT LKFFQTKLKK ELQEKRKAAR KRSLEEEKIE EEPKDNATIT MCSTVMEQIK
AFKV*
mutated AA sequence MSDANKAAIA AEKEALNLKL PPIVHLPENI GVDTPTQSKL LKYRRSKEQQ QKINQLVIDG
AKRNLDRTLG KRTPLLPPPD YPQTMTSEMK KKGFNYIYMK QCVESSPLVP IQQEWLDHML
RLIPESLKEG KEREELLESL INEVSSDFEN SMKRYLVQSV LVKPPVKSLE DEGGPLPESP
VGLDYSNPWH SSYVQARNQI FSNLHIIHPT MKMLLDLGYT TFADTVLLDF TGIRAKGPID
CESLKTDLSI QTRNAEEKIM NTWYPKVINL FTKKEALEGV KPEKLDAFYS CVSTLMSNQL
KDLLRRTVEG FVKLFDPKDQ QRLPIFKIEL TFDDDKMEFY PTFQDLEDNV LSLVERIAEA
LQNVQTIPSW LSGTSTPVNL DTELPEHVLH WAVDTLKAAV HRNLEGARKH YETYVEKYNW
LLDGTAVENI ETFQTEDHTF DEYTEFIEKF LSLASEIMLL PQWIHYPMVR LDCEDLKTGL
TNKAKAFANI LLNDIASKYR KENECICSEF EAIKEHALKV PETTEEMMDL ISYVEKARTV
GIEELILRIQ ESKRQMSYFL DVFLFPQEDL ALNATVLMWP RKINPIFDEN DELIENAKHK
KENELMAKRE KLILEIEKES RRMEEFTEFA ELERMQQYVT DVRQLQKRIQ ESEEAVQFIN
KEEELFKWEL TKYPELDKLK VNIEPYQKFF NFVLKWQRSE KRWMDGGFLD LNGESMEADV
EEFSREIFKT LKFFQTKLKK ELQEKRKAAR KRSLEEEKIE EEPKDNATIT MCSTVMEQIK
AFKV*
speed 0.14 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: 0.998272297290843 (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) chr3:57475351T>GN/A show variant in all transcripts   IGV
HGNC symbol DNAH12
Ensembl transcript ID ENST00000351747
Genbank transcript ID NM_178504
UniProt peptide Q6ZR08
alteration type single base exchange
alteration region CDS
DNA changes c.1399A>C
cDNA.1580A>C
g.54721A>C
AA changes T467P Score: 38 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 467
frameshift no
known variant Reference ID: rs6806444
databasehomozygous (G/G)heterozygousallele carriers
1000G102011332153
ExAC561043059915
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8541
1.3460.994
(flanking)-0.0060.957
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased54727wt: 0.30 / mu: 0.68wt: AGTGGATTCATTACACTATGGTGCGTTTGGATTGTGAAGAT
mu: AGTGGATTCATTACCCTATGGTGCGTTTGGATTGTGAAGAT		 atgg|TGCG
Acc gained547300.53mu: GGATTCATTACCCTATGGTGCGTTTGGATTGTGAAGATTTG gtgc|GTTT
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      467EIMLLPQWIHYTMVRLDCEDLKTG
mutated  not conserved    467EIMLLPQWIHYPMVRLDCEDLKT
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000004881  n/a
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
11214REGIONStem (By similarity).lost
592665COILEDPotential.might get lost (downstream of altered splice site)
731762COILEDPotential.might get lost (downstream of altered splice site)
11251125CONFLICTS -> G (in Ref. 3; AAB09729).might get lost (downstream of altered splice site)
11701170CONFLICTH -> R (in Ref. 3; AAB09729).might get lost (downstream of altered splice site)
12151436REGIONAAA 1 (By similarity).might get lost (downstream of altered splice site)
12531260MOTIFGPAGTGKT motif.might get lost (downstream of altered splice site)
12531260NP_BINDATP (Potential).might get lost (downstream of altered splice site)
13031309MOTIFCFDEFNR motif.might get lost (downstream of altered splice site)
13101311CONFLICTIE -> NS (in Ref. 3; AAB09729).might get lost (downstream of altered splice site)
14961636REGIONAAA 2 (By similarity).might get lost (downstream of altered splice site)
15341541NP_BINDATP (Potential).might get lost (downstream of altered splice site)
18532104REGIONAAA 3 (By similarity).might get lost (downstream of altered splice site)
18921899NP_BINDATP (Potential).might get lost (downstream of altered splice site)
22182660REGIONAAA 4 (By similarity).might get lost (downstream of altered splice site)
22572264NP_BINDATP (Potential).might get lost (downstream of altered splice site)
26612795REGIONStalk (By similarity).might get lost (downstream of altered splice site)
28743051REGIONAAA 5 (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 9279 / 9279
position (AA) of stopcodon in wt / mu AA sequence 3093 / 3093
position of stopcodon in wt / mu cDNA 9460 / 9460
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 182 / 182
chromosome 3
strand -1
last intron/exon boundary 9270
theoretical NMD boundary in CDS 9038
length of CDS 9279
coding sequence (CDS) position 1399
cDNA position
(for ins/del: last normal base / first normal base)		 1580
gDNA position
(for ins/del: last normal base / first normal base)		 54721
chromosomal position
(for ins/del: last normal base / first normal base)		 57475351
original gDNA sequence snippet TGCCTCAGTGGATTCATTACACTATGGTGCGTTTGGATTGT
altered gDNA sequence snippet TGCCTCAGTGGATTCATTACCCTATGGTGCGTTTGGATTGT
original cDNA sequence snippet TGCCTCAGTGGATTCATTACACTATGGTGCGTTTGGATTGT
altered cDNA sequence snippet TGCCTCAGTGGATTCATTACCCTATGGTGCGTTTGGATTGT
wildtype AA sequence MSDANKAAIA AEKEALNLKL PPIVHLPENI GVDTPTQSKL LKYRRSKEQQ QKINQLVIDG
AKRNLDRTLG KRTPLLPPPD YPQTMTSEMK KKGFNYIYMK QCVESSPLVP IQQEWLDHML
RLIPESLKEG KEREELLESL INEVSSDFEN SMKRYLVQSV LVKPPVKSLE DEGGPLPESP
VGLDYSNPWH SSYVQARNQI FSNLHIIHPT MKMLLDLGYT TFADTVLLDF TGIRAKGPID
CESLKTDLSI QTRNAEEKIM NTWYPKVINL FTKKEALEGV KPEKLDAFYS CVSTLMSNQL
KDLLRRTVEG FVKLFDPKDQ QRLPIFKIEL TFDDDKMEFY PTFQDLEDNV LSLVERIAEA
LQNVQTIPSW LSGTSTPVNL DTELPEHVLH WAVDTLKAAV HRNLEGARKH YETYVEKYNW
LLDGTAVENI ETFQTEDHTF DEYTEFIEKF LSLASEIMLL PQWIHYTMVR LDCEDLKTGL
TNKAKAFANI LLNDIASKYR KENECICSEF EAIKEHALKV PETTEEMMDL ISYVEKARTV
GIEELILRIQ ESKRQMSYFL DVFLFPQEDL ALNATVLMWP RKINPIFDEN DELIENAKHK
KENELMAKRE KLILEIEKES RRMEEFTEFA ELERMQQYVT DVRQLQKRIQ ESEEAVQFIN
KEEELFKWEL TKYPELDKLK VNIEPYQKFF NFVLKWQRSE KRWMDGGFLD LNGESMEADV
EEFSREIFKT LKFFQTKLKK ELQEKRKAAR KRSLEEEKIE EEPKDNATIT MCRMRARHWK
QISEIVGYDL TPDSGTTLRK VLKLNLTPYL EQFEVISAGA SKEFSLEKAM NTMIGTWEDI
AFHISLYRDT GVCILSSVDE IQAILDDQII KTQTMRGSPF IKPFEHEIKA WEDRLIRIQE
TIDEWLKVQA QWLYLEPIFC SEDIMQQMPE EGRQFQTVDR HWRDIMKFCA KDPKVLAATS
LTGLLEKLQN CNELLEKIMK GLNAYLEKKR LFFPRFFFLS NDEMLEILSE TKDPLRVQPH
LKKCFEGIAK LEFLPNLDIK AMYSSEGERV ELIALISTSA ARGAVEKWLI QVEDLMLRSV
HDVIAAARLA YPESARRDWV REWPGQVVLC ISQMFWTSET QEVISGGTEG LKKYYKELQN
QLNEIVELVR GKLSKQTRTT LGALVTIDVH ARDVVMDMIK MGVSHDTDFL WLAQLRYYWE
NENARVRIIN CNVKYAYEYL GNSPRLVITP LTDRCYRTLI GAFYLNLGGA PEGPAGTGKT
ETTKDLAKAL AVQCVVFNCS DGLDYLAMGK FFKGLASSGA WACFDEFNRI ELEVLSVVAQ
QILCIQRAIQ QKLVVFVFEG TELKLNPNCF VAITMNPGYA GRSELPDNLK VLFRTVAMMV
PNYALIAEIS LYSYGFLNAR PLSVKIVMTY RLCSEQLSSQ FHYDYGMRAV KAVLVAAGNL
KLKYPNENED ILLLRSIKDV NEPKFLSHDI PLFNGITSDL FPGIKLPEAD YHEFLECAHE
ACNVHNLQPV KFFLEKIIQT YEMMIVRHGF MLVGEPFAAK TKVLHVLADT LTLMNEHGYG
EEEKVIYRTV NPKSITMGQL FGQFDPVSHE WTDGIVANTF REFALSETPD RKWVVFDGPI
DTLWIESMNT VLDDNKKLCL MSGEIIQMSP QMSLIFETMD LSQASPATVS RCGMIYLEPS
QLGWEPLVSS WLNSLKGPLC EPEYQALLRG LFAWLIPPSL NQRVELFQLN YLYTTIVSKI
LKILITFRIS NYFKYVPLKT QCTFIKFFLH QQACFIFSLI WSIGGSCDTD GRRVFDTFIR
LIILGKDDEN PVPDSVGKWE CPFDEKGLVY DYMYELKNKG RWVHWNELIK NTNLGDKQIK
IQDIIVPTMD TIRYTFLMDL SITYAKPLLF VGPTGTGKSV YVKDKLMNHL EKDQYFPFYI
NLSARTSANQ VQNIIMARLD KRRKGVFGPP MGKKCIIFID DMNMPALEKY GAQPPIELLR
QFFDCGHWYD LKDTSKITLV DIELIAAMGP PGGGRNPVTP RCIRHFNICS INSFSDETMV
RIFSSIVAFY LRTHEFPPEY FVIGNQIVNG TMEIYKQSVE NLLPTPTKSH YTFNLRDFSR
VIRGCLLIER DAVANKHTMI RLFVHEVLRV FYDRLINDDD RRWLFQLTKT VIKDHFKESF
HSIFSHLRKQ NAPVTEEDLR NLMFGDYMNP DLEGDDRVYI EIPNIHHFSD VVDQCLDEYN
QTHKTRMNLV IFRYVLEHLS RICRVLKQSG GNALLVGLGG SGRQSLTRLA TSMAKMHIFQ
PEISKSYGMN EWREDMKSFI AVPVTNRIVD NKSKILEKRL RYLNDHFTYN LYCNICRSLF
EKDKLLFSFL LCANLLLARK EIEYQELMFL LTGGVSLKSA EKNPDPTWLQ DKSWEEICRA
SEFPAFRGLR QHFCEHIYEW REIYDSKEPH NAKFPAPMDK NLNELQKIII LRCLRPDKIT
PAITNYVTDK LGKKFVEPPP FDLTKSYLDS NCTIPLIFVL SPGADPMASL LKFANDKSMS
GNKFQAISLG QGQGPIAAKM IKAAIEEGTW VCLQNCHLAV SWMPMLEKIC EDFTSETCNS
SFRLWLTSYP SSKFPVTILQ NGVKMTNEPP TGLRLNLLQS YLTDPVSDPE FFKGCRGKEL
AWEKLLFGVC FFHALVQERK KFGPLGWNIP YGFNESDLRI SIRQLQLFIN EYDTIPFEAI
SYLTGECNYG GRVTDDWDRR LLLTMLADFY NLYIVENPHY KFSPSGNYFA PPKGTYEDYI
EFIKKLPFTQ HPEIFGLHEN VDISKDLQQT KTLFESLLLT QGGSKQTGAS GSTDQILLEI
TKDILNKLPS DFDIEMALRK YPVRYEESMN TVLVQEMERF NNLIITIRNT LRDLEKAIKG
VVVMDSALEA LSGSLLVGKV PEIWAKRSYP SLKPLGSYIT DFLARLNFLQ DWYNSGKPCV
FWLSGFFFTQ AFLTGAMQNY ARKYTTPIDL LGYEFEVIPS DTSDTSPEDG VYIHGLYLDG
ARWDRESGLL AEQYPKLLFD LMPIIWIKPT QKSRIIKSDA YVCPLYKTSE RKGTLSTTGH
STNFVIAMLL KTDQPTRHWI KRGVALLCQL DD*
mutated AA sequence MSDANKAAIA AEKEALNLKL PPIVHLPENI GVDTPTQSKL LKYRRSKEQQ QKINQLVIDG
AKRNLDRTLG KRTPLLPPPD YPQTMTSEMK KKGFNYIYMK QCVESSPLVP IQQEWLDHML
RLIPESLKEG KEREELLESL INEVSSDFEN SMKRYLVQSV LVKPPVKSLE DEGGPLPESP
VGLDYSNPWH SSYVQARNQI FSNLHIIHPT MKMLLDLGYT TFADTVLLDF TGIRAKGPID
CESLKTDLSI QTRNAEEKIM NTWYPKVINL FTKKEALEGV KPEKLDAFYS CVSTLMSNQL
KDLLRRTVEG FVKLFDPKDQ QRLPIFKIEL TFDDDKMEFY PTFQDLEDNV LSLVERIAEA
LQNVQTIPSW LSGTSTPVNL DTELPEHVLH WAVDTLKAAV HRNLEGARKH YETYVEKYNW
LLDGTAVENI ETFQTEDHTF DEYTEFIEKF LSLASEIMLL PQWIHYPMVR LDCEDLKTGL
TNKAKAFANI LLNDIASKYR KENECICSEF EAIKEHALKV PETTEEMMDL ISYVEKARTV
GIEELILRIQ ESKRQMSYFL DVFLFPQEDL ALNATVLMWP RKINPIFDEN DELIENAKHK
KENELMAKRE KLILEIEKES RRMEEFTEFA ELERMQQYVT DVRQLQKRIQ ESEEAVQFIN
KEEELFKWEL TKYPELDKLK VNIEPYQKFF NFVLKWQRSE KRWMDGGFLD LNGESMEADV
EEFSREIFKT LKFFQTKLKK ELQEKRKAAR KRSLEEEKIE EEPKDNATIT MCRMRARHWK
QISEIVGYDL TPDSGTTLRK VLKLNLTPYL EQFEVISAGA SKEFSLEKAM NTMIGTWEDI
AFHISLYRDT GVCILSSVDE IQAILDDQII KTQTMRGSPF IKPFEHEIKA WEDRLIRIQE
TIDEWLKVQA QWLYLEPIFC SEDIMQQMPE EGRQFQTVDR HWRDIMKFCA KDPKVLAATS
LTGLLEKLQN CNELLEKIMK GLNAYLEKKR LFFPRFFFLS NDEMLEILSE TKDPLRVQPH
LKKCFEGIAK LEFLPNLDIK AMYSSEGERV ELIALISTSA ARGAVEKWLI QVEDLMLRSV
HDVIAAARLA YPESARRDWV REWPGQVVLC ISQMFWTSET QEVISGGTEG LKKYYKELQN
QLNEIVELVR GKLSKQTRTT LGALVTIDVH ARDVVMDMIK MGVSHDTDFL WLAQLRYYWE
NENARVRIIN CNVKYAYEYL GNSPRLVITP LTDRCYRTLI GAFYLNLGGA PEGPAGTGKT
ETTKDLAKAL AVQCVVFNCS DGLDYLAMGK FFKGLASSGA WACFDEFNRI ELEVLSVVAQ
QILCIQRAIQ QKLVVFVFEG TELKLNPNCF VAITMNPGYA GRSELPDNLK VLFRTVAMMV
PNYALIAEIS LYSYGFLNAR PLSVKIVMTY RLCSEQLSSQ FHYDYGMRAV KAVLVAAGNL
KLKYPNENED ILLLRSIKDV NEPKFLSHDI PLFNGITSDL FPGIKLPEAD YHEFLECAHE
ACNVHNLQPV KFFLEKIIQT YEMMIVRHGF MLVGEPFAAK TKVLHVLADT LTLMNEHGYG
EEEKVIYRTV NPKSITMGQL FGQFDPVSHE WTDGIVANTF REFALSETPD RKWVVFDGPI
DTLWIESMNT VLDDNKKLCL MSGEIIQMSP QMSLIFETMD LSQASPATVS RCGMIYLEPS
QLGWEPLVSS WLNSLKGPLC EPEYQALLRG LFAWLIPPSL NQRVELFQLN YLYTTIVSKI
LKILITFRIS NYFKYVPLKT QCTFIKFFLH QQACFIFSLI WSIGGSCDTD GRRVFDTFIR
LIILGKDDEN PVPDSVGKWE CPFDEKGLVY DYMYELKNKG RWVHWNELIK NTNLGDKQIK
IQDIIVPTMD TIRYTFLMDL SITYAKPLLF VGPTGTGKSV YVKDKLMNHL EKDQYFPFYI
NLSARTSANQ VQNIIMARLD KRRKGVFGPP MGKKCIIFID DMNMPALEKY GAQPPIELLR
QFFDCGHWYD LKDTSKITLV DIELIAAMGP PGGGRNPVTP RCIRHFNICS INSFSDETMV
RIFSSIVAFY LRTHEFPPEY FVIGNQIVNG TMEIYKQSVE NLLPTPTKSH YTFNLRDFSR
VIRGCLLIER DAVANKHTMI RLFVHEVLRV FYDRLINDDD RRWLFQLTKT VIKDHFKESF
HSIFSHLRKQ NAPVTEEDLR NLMFGDYMNP DLEGDDRVYI EIPNIHHFSD VVDQCLDEYN
QTHKTRMNLV IFRYVLEHLS RICRVLKQSG GNALLVGLGG SGRQSLTRLA TSMAKMHIFQ
PEISKSYGMN EWREDMKSFI AVPVTNRIVD NKSKILEKRL RYLNDHFTYN LYCNICRSLF
EKDKLLFSFL LCANLLLARK EIEYQELMFL LTGGVSLKSA EKNPDPTWLQ DKSWEEICRA
SEFPAFRGLR QHFCEHIYEW REIYDSKEPH NAKFPAPMDK NLNELQKIII LRCLRPDKIT
PAITNYVTDK LGKKFVEPPP FDLTKSYLDS NCTIPLIFVL SPGADPMASL LKFANDKSMS
GNKFQAISLG QGQGPIAAKM IKAAIEEGTW VCLQNCHLAV SWMPMLEKIC EDFTSETCNS
SFRLWLTSYP SSKFPVTILQ NGVKMTNEPP TGLRLNLLQS YLTDPVSDPE FFKGCRGKEL
AWEKLLFGVC FFHALVQERK KFGPLGWNIP YGFNESDLRI SIRQLQLFIN EYDTIPFEAI
SYLTGECNYG GRVTDDWDRR LLLTMLADFY NLYIVENPHY KFSPSGNYFA PPKGTYEDYI
EFIKKLPFTQ HPEIFGLHEN VDISKDLQQT KTLFESLLLT QGGSKQTGAS GSTDQILLEI
TKDILNKLPS DFDIEMALRK YPVRYEESMN TVLVQEMERF NNLIITIRNT LRDLEKAIKG
VVVMDSALEA LSGSLLVGKV PEIWAKRSYP SLKPLGSYIT DFLARLNFLQ DWYNSGKPCV
FWLSGFFFTQ AFLTGAMQNY ARKYTTPIDL LGYEFEVIPS DTSDTSPEDG VYIHGLYLDG
ARWDRESGLL AEQYPKLLFD LMPIIWIKPT QKSRIIKSDA YVCPLYKTSE RKGTLSTTGH
STNFVIAMLL KTDQPTRHWI KRGVALLCQL DD*
speed 0.15 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