Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999963318931455 (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) chr1:225266966C>GN/A show variant in all transcripts   IGV
HGNC symbol DNAH14
Ensembl transcript ID ENST00000439375
Genbank transcript ID N/A
UniProt peptide Q0VDD8
alteration type single base exchange
alteration region CDS
DNA changes c.2482C>G
cDNA.2482C>G
g.183003C>G
AA changes L828V Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS
828
frameshift no
known variant Reference ID: rs3105559
databasehomozygous (G/G)heterozygousallele carriers
1000G13677832150
ExAC8332209710429
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4931
0.4391
(flanking)1.671
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased183002wt: 0.43 / mu: 0.92wt: GAATTTCTGGAGCAT
mu: GAATTTGTGGAGCAT
 ATTT|ctgg
distance from splice site 58
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      828LECDPTEIEEFLEHFIFLNAISSK
mutated  all conserved    828LECDPTEIEEFVEHFIFLNAISS
Ptroglodytes  no alignment  ENSPTRG00000002028  n/a
Mmulatta  no alignment  ENSMMUG00000008571  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 
11641171NP_BINDATP (Potential).might get lost (downstream of altered splice site)
11641171MOTIFGPAGTGKT motif (By similarity).might get lost (downstream of altered splice site)
14271434NP_BINDATP (Potential).might get lost (downstream of altered splice site)
18181818CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 13548 / 13548
position (AA) of stopcodon in wt / mu AA sequence 4516 / 4516
position of stopcodon in wt / mu cDNA 13548 / 13548
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 1 / 1
chromosome 1
strand 1
last intron/exon boundary 13333
theoretical NMD boundary in CDS 13282
length of CDS 13548
coding sequence (CDS) position 2482
cDNA position
(for ins/del: last normal base / first normal base)
2482
gDNA position
(for ins/del: last normal base / first normal base)
183003
chromosomal position
(for ins/del: last normal base / first normal base)
225266966
original gDNA sequence snippet CCACTGAAATAGAAGAATTTCTGGAGCATTTTATTTTTTTG
altered gDNA sequence snippet CCACTGAAATAGAAGAATTTGTGGAGCATTTTATTTTTTTG
original cDNA sequence snippet CCACTGAAATAGAAGAATTTCTGGAGCATTTTATTTTTTTG
altered cDNA sequence snippet CCACTGAAATAGAAGAATTTGTGGAGCATTTTATTTTTTTG
wildtype AA sequence METFIPIDLT TENQEMDKEE TKTKPRLLRY EEKKYEDVKP LETQPAEIAE KETLEYKTVR
TFSESLKSEK TEDYLRESII QQHMVSPEPA SLKEKGKSRR KKDQTHACPN VRKARPVSYD
RTEPKDDDVI RNIIRLREKL GWQTILPQHS LKYGSSKIAI QKITLKKPLE DDGEFVYCLP
RKSPKSLYNP YDLQVVSAHT AKHCKEFWVI TASFISKVIN IVGSVKEVEL IPTLEWLSER
RHYYLLRQFK IFSDFRMNKA FVTWKLNVKR IKTEKSRSFL YHHLFLADDL FQTCLVYIRG
LCEDAINLKN YNDHENNLSA ICLVKLDSSR TYSLDEFCEE QLQQATQALK QLEDIRNKAI
SEMKSTFLKV AEKNEIKEYF ESKLSEDDTT HFKLPKYRRL LETFFKFVML VDYIFQELIR
QLMNTAVTLL LELFNGSAGM PFSVEKKNEN LIRTFKDNSF PTGKTTNDCE ELVDNSKLHA
ISVQKSEVKT DTDINEILNS VEVGKDLRKT YAPIFEVNLC LRIPAESDSS ENSKENFHES
DQCPEECVMF EDEMSENKDN CVKKHSSEEL LPKAKKSKEI SYNLEDIISD TEIETEFENK
YMYYEFPEFP TNLFIDPNRL EFSVKIQNML TNMEKCITTI TPLCQDPQLS IFIDLVSIMD
LPNKTGSIIH YKEQTRWPDC HILFETDPAY QNIIVNLLTI IGNSMGLVNA YSHKFIKYCT
MTEKAKIMSM KISSMGELTS KEFEAILNRF RNYFRHIVNM AIEKRIGIFN VVSLDYQSEC
LLYIDNVIHM SHTLIQSVIE KKNKNLLEVV ESSLQQLECD PTEIEEFLEH FIFLNAISSK
ISKLEKEFLT MSQLYSVAKH HQIHISEEQI AIFQVLLLKF SQLKSSMKLS KINKDTAITK
FRDNLEACIS GLHVDVGNLK AKIRTPLLLC AGTQVSTAME MIQTLSGEAA SLTNKAKAYS
HYQDCFSDSQ SHMHSVNVEE ITQIVLSEIS DIEGDLTLRK KLWEAQEEWK RASWEWRNSS
LQSIDVESVQ RNVSKLMHII SVLEKGLPKS DMVTHLKQVV TEFKQELPII IALGNPCLKP
RHWEALQEII GKSVPLDKNC KVENLLALKM FQYENEINDM STSATNEAAL EKMLFKIIDF
WNTTPLPLIL HHTEIYSIFI IPSIDDISAQ LEESQVILAT IKGSPHIGPI KDLVNEWDQN
LTLFSYTLEE WMNCQRNWLY LEPVFHSSEI RRQLPAETEL FSQVISMWKK IMSKIQNKQN
ALQITTSAGV LEILQNCNIH LEHIKKSLED YLEVKRLIFP RFYFLSNAEL LDILADSRNP
ESVQPHLVKC FENIKQLLIW KQDIGPPAVK MLISAEGEGL VLPKKIRVRS AVEQWLVNVE
KSMFDVLKKE RYIYNIILLF QSQIMFYNDC VKSFVSSYSR EKLEKVHAGL MCHLEEVADL
VVLDTSNSRT KAILGALLIL YVHCRDIVIN LLLKNIFNAE DFEWTRHLQY KWNEKQKLCY
VSQGNASFTY GYEYLGCTSR LVITPLTDRC WLTLMEALHL NLGGCPAGPA GTGKTETVKD
LAKSLGKHCV VFNCFEDLDY KIVRKFFFGL VQSGAWSCFD EFNLIDLEVL SVIASQILTI
KAAKDNYSAR FVLEGKEIRI NMSCAVFITM NPRYGGGVEL PDNLKSLFRP VAMMVPHYQM
IAEIILFSFG FKSANSLSGK LTNLYELARK QLSQQDHYNF GLRSLKIVLI MAGTKKREFK
CLSEADETLI VIEAIREASL PKCPPEDVPL FENIIGDIFP EVTVLKVNQL ALEKVIYTAT
QQLGLQNWSS QKEKIIQFYN QLQVCVGVML VGPTGGGKTT VRRILEKALT LLPIADFLSV
AERKSASKIS ERKGKVDICV LNPKCVTLSE LYGQLDPNTM EWTDGLLSAT IRSYVYFNTP
KNTKKDIDLR LKSRISDLSN VFKLDSSDTT ETDDNIFEEI EKVVKIPENH NFDWQWIILD
GPVDTFWVEN LNSVLDDTRT LCLANSERIA LTNKIRVIFE VDNLSQASPA TVSRCAMVYM
DPVDLGWEPY VKSWLLKTSK IISQSGVDCL EFMIKNSVTD GLQFIRNRQK FQPYPMEDIT
VVITLCRILD AFFDFMGKNG GFEQSDDLND TSSKEANSQR ESVTFKDIEK RDENTWYPEK
NPDKLTKIIQ KLFVFAFTWA FGGALNREDE HRENIPFCPS LEPDSLAKVT YDFDKLVHEL
FGNSSQVGWK HWGQSQGRRR KGNCINLPTG ECSIFGYFVD IEQCEFIPWS DLVPNDQTLI
QRGTSLLTNL QRSGGNFLKI TECGECINYT ATRDTTCLSF LMSLLLKNSC PVLLTGESGV
GKTAAINQML EKLEGPGAFD IKHGSILGDT LLYSEIKKSS SLKQNITILI PETHKTATGS
SDNPTKKPEV RTNKKLLKNN DHKGVVVSTI NFSTNVTAAK TKEMILKKLI RRTKDTLGAP
KNNRILIFID DMNMPVSDMY GAQPPLELIR QLLDLGGVYD TEKNTWKNIQ DLSIVAACVP
VVNDISPRLL KHFSMLVLPH PSQDILCTIF QAHLGIYFSI NNFTPEVQKS KDQIISCSLA
IYHQVRQNML PTPTKCHYMF NLRDMFKLLL GLLQADRTVV NSKEMAALLF VHEATRVFHD
RLIDFTDKSL FYRLLSRELE NCFQIGIDGC GKKTCATLAC YLTDNKLYRV PISHKCAYIE
FKEVFKKVFI HAGLKGKPTV LMVPNLNIEQ DSFLEDLNYI ISSGRIPDLF ENVELDSIAM
KIRYLTEQSG HMDNRQSLLS FFQKRIYKNL HIFVIMSPEG PSFRQNCRVY PSMISSCTID
WYERWPEEAL LIVANSFLKE KVNFENRENL KEKLAPTCVQ IHKSMKDLNR KYFEETGRFY
YTTPNSYLQF METFAHILRA REEEMQTKRD RFHMGLSTIL EATTLVTEMQ EELLILGPQV
EQKTKETETL MEKLRKDSQV VEKVQMLVKQ DEEIVAEEVR IVEDYAQKTA NELKSVLPAF
DKAIVALNAL DKADVAELRV YTRPPFLVLT VMNAVCILLQ KKPNWATAKL LLSETGFLKK
LINLDKDSIP DKVFVKLKKI VTLPDFNPHK ISLVSVACCS LCQWVIALNN YHEVQKVVGP
KQIQVAEAQN VLKIARQRLA EKQRGLQLVE EHLLFLQAAY KDTVAEKQLL ANRKTMASRR
FQCASVLLTV LEDEKTRWQE TINQIDNKLE GILGDILLSA ACIVYSGILT PEFRQLIVNK
WETFCIENGI SLSSKFSLIK VMAQKYEISR WHNQGLPHGQ YSVENAILIK NGQQWPLLID
PHRQAHKWIR QMEGSRLQKL SIEDSNYTKK IENAMKTGGS VLLQNLLETL APGLKAILKK
DIYQKKGHYF IRVGDAEFEY NSNFRLYLST EIDNPHFLPS VYNFVTMINF TVTFQGLQDQ
LLSTVVTHEV PHLEDQRSKL LESISLDAIT LEELEEKTLN LLQKALGSIL DDDKIVDTLR
KSKMTSNEIS KRIEATKKAE SEIQAIRKNY LPIATRGALL YFLVADLTQI NYMYQFSLDW
FHQVFVSSVV SKSKEQEHSF KREKVSPKEV HEFISISKEP NLENEKNLLD KHIKSAIDML
TKSIFKVVSS ALFNEDKLCF SFRLCTVIMQ NNANGNLIQD DIGFLPEEEW NIFLYSGILI
NIKSALSQSR LTSTFEIGES QHLQWLSDSR WRQCQYVSTH LEPFSLLCKS LLSNVSQWDT
FKNSKAVYSL ISTPFSSENA SLEENTKPPE ETELLNENKE TCNPINFPWE KLTSFQRLIL
VKVLRPESLN NSVRKFITEK MGNKYLQRTG VNLKDAYKGS NARTPLILIQ THGIDLTNIL
LRFAQELKGT THHVTIISLG RDQAAKAEDL ILKALTKTQQ WVFLQNCHLA TSFMPRLCTI
VESFNSPNVT IDPEFRLWLS SKSYSSFPIP VLKKGLKIAV ESPQGLKSNL LQTFGCTGSG
EVTEEIFENP DCGQWWKKLL FSLCFFNAVI NERKNYGILG WNIAYKFNSS DLGVAIKVLE
NSLRGQPSIS WQALRYLIGE VIYGGRVIDN WDKRCLKTLL YKFCNPEVLK DDFSFSRSAS
IKDYIHIIQS LPDDDLPEVL GIHPEAIRSC WETQGEKFIE NLIAMQPKTT TANLMIRPEQ
SKDELVMEIL SDLLKRLPLT VEKEEIAVGT PSTLKSMMSS SIWESLSKNL KDHDPLIHCV
LLTFLKQEIK RFDKLLFVIH KSLKDLQLAI KGEIILTQEL EEIFNSFLNM RVPTLWQKHA
YRSCKPLSSW IDDLIQRLNF FNTWAKVAYT AIQRRYMRFV TVWKQSIPST SQKCKHPEDS
ENNFFEGFPS RYWLPAFFFP QAFLAAVLQD YGRSRGIAVD ALTFTHHVIS NTTDKDEKFS
VFMPKKLNIV RRAFKGSASS HTGVYIFGLF IEGARWNREQ KILEDSLPLE MCCDFPDIYF
LPTKISTKTP NASNQTDSEL YAFECPVYQT PERSRILATT GLPTNFLTSV YLSTKKPPSH
WITMRVALLC EKNEK*
mutated AA sequence METFIPIDLT TENQEMDKEE TKTKPRLLRY EEKKYEDVKP LETQPAEIAE KETLEYKTVR
TFSESLKSEK TEDYLRESII QQHMVSPEPA SLKEKGKSRR KKDQTHACPN VRKARPVSYD
RTEPKDDDVI RNIIRLREKL GWQTILPQHS LKYGSSKIAI QKITLKKPLE DDGEFVYCLP
RKSPKSLYNP YDLQVVSAHT AKHCKEFWVI TASFISKVIN IVGSVKEVEL IPTLEWLSER
RHYYLLRQFK IFSDFRMNKA FVTWKLNVKR IKTEKSRSFL YHHLFLADDL FQTCLVYIRG
LCEDAINLKN YNDHENNLSA ICLVKLDSSR TYSLDEFCEE QLQQATQALK QLEDIRNKAI
SEMKSTFLKV AEKNEIKEYF ESKLSEDDTT HFKLPKYRRL LETFFKFVML VDYIFQELIR
QLMNTAVTLL LELFNGSAGM PFSVEKKNEN LIRTFKDNSF PTGKTTNDCE ELVDNSKLHA
ISVQKSEVKT DTDINEILNS VEVGKDLRKT YAPIFEVNLC LRIPAESDSS ENSKENFHES
DQCPEECVMF EDEMSENKDN CVKKHSSEEL LPKAKKSKEI SYNLEDIISD TEIETEFENK
YMYYEFPEFP TNLFIDPNRL EFSVKIQNML TNMEKCITTI TPLCQDPQLS IFIDLVSIMD
LPNKTGSIIH YKEQTRWPDC HILFETDPAY QNIIVNLLTI IGNSMGLVNA YSHKFIKYCT
MTEKAKIMSM KISSMGELTS KEFEAILNRF RNYFRHIVNM AIEKRIGIFN VVSLDYQSEC
LLYIDNVIHM SHTLIQSVIE KKNKNLLEVV ESSLQQLECD PTEIEEFVEH FIFLNAISSK
ISKLEKEFLT MSQLYSVAKH HQIHISEEQI AIFQVLLLKF SQLKSSMKLS KINKDTAITK
FRDNLEACIS GLHVDVGNLK AKIRTPLLLC AGTQVSTAME MIQTLSGEAA SLTNKAKAYS
HYQDCFSDSQ SHMHSVNVEE ITQIVLSEIS DIEGDLTLRK KLWEAQEEWK RASWEWRNSS
LQSIDVESVQ RNVSKLMHII SVLEKGLPKS DMVTHLKQVV TEFKQELPII IALGNPCLKP
RHWEALQEII GKSVPLDKNC KVENLLALKM FQYENEINDM STSATNEAAL EKMLFKIIDF
WNTTPLPLIL HHTEIYSIFI IPSIDDISAQ LEESQVILAT IKGSPHIGPI KDLVNEWDQN
LTLFSYTLEE WMNCQRNWLY LEPVFHSSEI RRQLPAETEL FSQVISMWKK IMSKIQNKQN
ALQITTSAGV LEILQNCNIH LEHIKKSLED YLEVKRLIFP RFYFLSNAEL LDILADSRNP
ESVQPHLVKC FENIKQLLIW KQDIGPPAVK MLISAEGEGL VLPKKIRVRS AVEQWLVNVE
KSMFDVLKKE RYIYNIILLF QSQIMFYNDC VKSFVSSYSR EKLEKVHAGL MCHLEEVADL
VVLDTSNSRT KAILGALLIL YVHCRDIVIN LLLKNIFNAE DFEWTRHLQY KWNEKQKLCY
VSQGNASFTY GYEYLGCTSR LVITPLTDRC WLTLMEALHL NLGGCPAGPA GTGKTETVKD
LAKSLGKHCV VFNCFEDLDY KIVRKFFFGL VQSGAWSCFD EFNLIDLEVL SVIASQILTI
KAAKDNYSAR FVLEGKEIRI NMSCAVFITM NPRYGGGVEL PDNLKSLFRP VAMMVPHYQM
IAEIILFSFG FKSANSLSGK LTNLYELARK QLSQQDHYNF GLRSLKIVLI MAGTKKREFK
CLSEADETLI VIEAIREASL PKCPPEDVPL FENIIGDIFP EVTVLKVNQL ALEKVIYTAT
QQLGLQNWSS QKEKIIQFYN QLQVCVGVML VGPTGGGKTT VRRILEKALT LLPIADFLSV
AERKSASKIS ERKGKVDICV LNPKCVTLSE LYGQLDPNTM EWTDGLLSAT IRSYVYFNTP
KNTKKDIDLR LKSRISDLSN VFKLDSSDTT ETDDNIFEEI EKVVKIPENH NFDWQWIILD
GPVDTFWVEN LNSVLDDTRT LCLANSERIA LTNKIRVIFE VDNLSQASPA TVSRCAMVYM
DPVDLGWEPY VKSWLLKTSK IISQSGVDCL EFMIKNSVTD GLQFIRNRQK FQPYPMEDIT
VVITLCRILD AFFDFMGKNG GFEQSDDLND TSSKEANSQR ESVTFKDIEK RDENTWYPEK
NPDKLTKIIQ KLFVFAFTWA FGGALNREDE HRENIPFCPS LEPDSLAKVT YDFDKLVHEL
FGNSSQVGWK HWGQSQGRRR KGNCINLPTG ECSIFGYFVD IEQCEFIPWS DLVPNDQTLI
QRGTSLLTNL QRSGGNFLKI TECGECINYT ATRDTTCLSF LMSLLLKNSC PVLLTGESGV
GKTAAINQML EKLEGPGAFD IKHGSILGDT LLYSEIKKSS SLKQNITILI PETHKTATGS
SDNPTKKPEV RTNKKLLKNN DHKGVVVSTI NFSTNVTAAK TKEMILKKLI RRTKDTLGAP
KNNRILIFID DMNMPVSDMY GAQPPLELIR QLLDLGGVYD TEKNTWKNIQ DLSIVAACVP
VVNDISPRLL KHFSMLVLPH PSQDILCTIF QAHLGIYFSI NNFTPEVQKS KDQIISCSLA
IYHQVRQNML PTPTKCHYMF NLRDMFKLLL GLLQADRTVV NSKEMAALLF VHEATRVFHD
RLIDFTDKSL FYRLLSRELE NCFQIGIDGC GKKTCATLAC YLTDNKLYRV PISHKCAYIE
FKEVFKKVFI HAGLKGKPTV LMVPNLNIEQ DSFLEDLNYI ISSGRIPDLF ENVELDSIAM
KIRYLTEQSG HMDNRQSLLS FFQKRIYKNL HIFVIMSPEG PSFRQNCRVY PSMISSCTID
WYERWPEEAL LIVANSFLKE KVNFENRENL KEKLAPTCVQ IHKSMKDLNR KYFEETGRFY
YTTPNSYLQF METFAHILRA REEEMQTKRD RFHMGLSTIL EATTLVTEMQ EELLILGPQV
EQKTKETETL MEKLRKDSQV VEKVQMLVKQ DEEIVAEEVR IVEDYAQKTA NELKSVLPAF
DKAIVALNAL DKADVAELRV YTRPPFLVLT VMNAVCILLQ KKPNWATAKL LLSETGFLKK
LINLDKDSIP DKVFVKLKKI VTLPDFNPHK ISLVSVACCS LCQWVIALNN YHEVQKVVGP
KQIQVAEAQN VLKIARQRLA EKQRGLQLVE EHLLFLQAAY KDTVAEKQLL ANRKTMASRR
FQCASVLLTV LEDEKTRWQE TINQIDNKLE GILGDILLSA ACIVYSGILT PEFRQLIVNK
WETFCIENGI SLSSKFSLIK VMAQKYEISR WHNQGLPHGQ YSVENAILIK NGQQWPLLID
PHRQAHKWIR QMEGSRLQKL SIEDSNYTKK IENAMKTGGS VLLQNLLETL APGLKAILKK
DIYQKKGHYF IRVGDAEFEY NSNFRLYLST EIDNPHFLPS VYNFVTMINF TVTFQGLQDQ
LLSTVVTHEV PHLEDQRSKL LESISLDAIT LEELEEKTLN LLQKALGSIL DDDKIVDTLR
KSKMTSNEIS KRIEATKKAE SEIQAIRKNY LPIATRGALL YFLVADLTQI NYMYQFSLDW
FHQVFVSSVV SKSKEQEHSF KREKVSPKEV HEFISISKEP NLENEKNLLD KHIKSAIDML
TKSIFKVVSS ALFNEDKLCF SFRLCTVIMQ NNANGNLIQD DIGFLPEEEW NIFLYSGILI
NIKSALSQSR LTSTFEIGES QHLQWLSDSR WRQCQYVSTH LEPFSLLCKS LLSNVSQWDT
FKNSKAVYSL ISTPFSSENA SLEENTKPPE ETELLNENKE TCNPINFPWE KLTSFQRLIL
VKVLRPESLN NSVRKFITEK MGNKYLQRTG VNLKDAYKGS NARTPLILIQ THGIDLTNIL
LRFAQELKGT THHVTIISLG RDQAAKAEDL ILKALTKTQQ WVFLQNCHLA TSFMPRLCTI
VESFNSPNVT IDPEFRLWLS SKSYSSFPIP VLKKGLKIAV ESPQGLKSNL LQTFGCTGSG
EVTEEIFENP DCGQWWKKLL FSLCFFNAVI NERKNYGILG WNIAYKFNSS DLGVAIKVLE
NSLRGQPSIS WQALRYLIGE VIYGGRVIDN WDKRCLKTLL YKFCNPEVLK DDFSFSRSAS
IKDYIHIIQS LPDDDLPEVL GIHPEAIRSC WETQGEKFIE NLIAMQPKTT TANLMIRPEQ
SKDELVMEIL SDLLKRLPLT VEKEEIAVGT PSTLKSMMSS SIWESLSKNL KDHDPLIHCV
LLTFLKQEIK RFDKLLFVIH KSLKDLQLAI KGEIILTQEL EEIFNSFLNM RVPTLWQKHA
YRSCKPLSSW IDDLIQRLNF FNTWAKVAYT AIQRRYMRFV TVWKQSIPST SQKCKHPEDS
ENNFFEGFPS RYWLPAFFFP QAFLAAVLQD YGRSRGIAVD ALTFTHHVIS NTTDKDEKFS
VFMPKKLNIV RRAFKGSASS HTGVYIFGLF IEGARWNREQ KILEDSLPLE MCCDFPDIYF
LPTKISTKTP NASNQTDSEL YAFECPVYQT PERSRILATT GLPTNFLTSV YLSTKKPPSH
WITMRVALLC EKNEK*
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