| Transcript | Gene symbol | Prediction | Tree vote | Model | Prediction problem | Splice site change | Known ClinVar disease mutation | Potential ClinVar disease mutation | Amino acid changes | Variant type | dbSNP ID | Protein length | Features at a glance |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000397345(MANE Select) | NEB | Deleterious | 63|37 | simple_ | No | Single base exchange | Normal |
| |||||
ENST00000427231(MANE Select) | NEB | Deleterious | 85|15 | simple_ | No | Single base exchange | Normal |
| |||||
| NEB | Deleterious | 86|14 | simple_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr2:151727791G>A (GRCh38) | ||||||||||||||||
| Gene symbol | NEB | ||||||||||||||||
| Gene constraints | LOEUF: 0.60, LOF (oe): 0.55, misssense (oe): 0.93, synonymous (oe): 0.94 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000397345.8 | ||||||||||||||||
| Genbank transcript ID | NM_001164508 (exact from MANE), NM_001271208 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | NEBU_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.194C>T g.6697C>T | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 2 | ||||||||||||||||
| Strand | -1 | ||||||||||||||||
| Original gDNA sequence snippet | ACAGCCAGCATCAGCAAAGCCGGTGGAGAGGAGGAAGGTCA | ||||||||||||||||
| Altered gDNA sequence snippet | ACAGCCAGCATCAGCAAAGCTGGTGGAGAGGAGGAAGGTCA | ||||||||||||||||
| Original cDNA sequence snippet | ACAGCCAGCATCAGCAAAGCCGGTGGAGAGGAGGAAGGTCA | ||||||||||||||||
| Altered cDNA sequence snippet | ACAGCCAGCATCAGCAAAGCTGGTGGAGAGGAGGAAGGTCA | ||||||||||||||||
| Wildtype AA sequence | MADDEDYEEV VEYYTEEVVY EEVPGETITK IYETTTTRTS DYEQSETSKP ALAQPALAQP ASAKPVERRK VIRKKVDPSK FMTPYIAHSQ KMQDLFSPNK YKEKFEKTKG QPYASTTDTP ELRRIKKVQD QLSEVKYRMD GDVAKTICHV DEKAKDIEHA KKVSQQVSKV LYKQNWEDTK DKYLLPPDAP ELVQAVKNTA MFSKKLYTED WEADKSLFYP YNDSPELRRV AQAQKALSDV AYKKGLAEQQ AQFTPLADPP DIEFAKKVTN QVSKQKYKED YENKIKGKWS ETPCFEVANA RMNADNISTR KYQEDFENMK DQIYFMQTET PEYKMNKKAG VAASKVKYKE DYEKNKGKAD YNVLPASENP QLRQLKAAGD ALSDKLYKEN YEKTKAKSIN YCETPKFKLD TVLQNFSSDK KYKDSYLKDI LGHYVGSFED PYHSHCMKVT AQNSDKNYKA EYEEDRGKGF FPQTITQEYE AIKKLDQCKD HTYKVHPDKT KFTQVTDSPV LLQAQVNSKQ LSDLNYKAKH ESEKFKCHIP PDTPAFIQHK VNAYNLSDNL YKQDWEKSKA KKFDIKVDAI PLLAAKANTK NTSDVMYKKD YEKNKGKMIG VLSINDDPKM LHSLKVAKNQ SDRLYKENYE KTKAKSMNYC ETPKYQLDTQ LKNFSEARYK DLYVKDVLGH YVGSMEDPYH THCMKVAAQN SDKSYKAEYE EDKGKCYFPQ TITQEYEAIK KLDQCKDHTY KVHPDKTKFT AVTDSPVLLQ AQLNTKQLSD LNYKAKHEGE KFKCHIPADA PQFIQHRVNA YNLSDNVYKQ DWEKSKAKKF DIKVDAIPLL AAKANTKNTS DVMYKKDYEK SKGKMIGALS INDDPKMLHS LKTAKNQSDR EYRKDYEKSK TIYTAPLDML QVTQAKKSQA IASDVDYKHI LHSYSYPPDS INVDLAKKAY ALQSDVEYKA DYNSWMKGCG WVPFGSLEME KAKRASDILN EKKYRQHPDT LKFTSIEDAP ITVQSKINQA QRSDIAYKAK GEEIIHKYNL PPDLPQFIQA KVNAYNISEN MYKADLKDLS KKGYDLRTDA IPIRAAKAAR QAASDVQYKK DYEKAKGKMV GFQSLQDDPK LVHYMNVAKI QSDREYKKDY EKTKSKYNTP HDMFNVVAAK KAQDVVSNVN YKHSLHHYTY LPDAMDLELS KNMMQIQSDN VYKEDYNNWM KGIGWIPIGS LDVEKVKKAG DALNEKKYRQ HPDTLKFTSI VDSPVMVQAK QNTKQVSDIL YKAKGEDVKH KYTMSPDLPQ FLQAKCNAYN ISDVCYKRDW YDLIAKGNNV LGDAIPITAA KASRNIASDY KYKEAYEKSK GKHVGFRSLQ DDPKLVHYMN VAKLQSDREY KKNYENTKTS YHTPGDMVSI TAAKMAQDVA TNVNYKQPLH HYTYLPDAMS LEHTRNVNQI QSDNVYKDEY NSFLKGIGWI PIGSLEVEKV KKAGDALNER KYRQHPDTVK FTSVPDSMGM VLAQHNTKQL SDLNYKVEGE KLKHKYTIDP ELPQFIQAKV NALNMSDAHY KADWKKTIAK GYDLRPDAIP IVAAKSSRNI ASDCKYKEAY EKAKGKQVGF LSLQDDPKLV HYMNVAKIQS DREYKKGYEA SKTKYHTPLD MVSVTAAKKS QEVATNANYR QSYHHYTLLP DALNVEHSRN AMQIQSDNLY KSDFTNWMKG IGWVPIESLE VEKAKKAGEI LSEKKYRQHP EKLKFTYAMD TMEQALNKSN KLNMDKRLYT EKWNKDKTTI HVMPDTPDIL LSRVNQITMS DKLYKAGWEE EKKKGYDLRP DAIAIKAARA SRDIASDYKY KKAYEQAKGK HIGFRSLEDD PKLVHFMQVA KMQSDREYKK GYEKSKTSFH TPVDMLSVVA AKKSQEVATN ANYRNVIHTY NMLPDAMSFE LAKNMMQIQS DNQYKADYAD FMKGIGWLPL GSLEAEKNKK AMEIISEKKY RQHPDTLKYS TLMDSMNMVL AQNNAKIMNE HLYKQAWEAD KTKVHIMPDI PQIILAKANA INMSDKLYKL SLEESKKKGY DLRPDAIPIK AAKASRDIAS DYKYKYNYEK GKGKMVGFRS LEDDPKLVHS MQVAKMQSDR EYKKNYENTK TSYHTPADML SVTAAKDAQA NITNTNYKHL IHKYILLPDA MNIELTRNMN RIQSDNEYKQ DYNEWYKGLG WSPAGSLEVE KAKKATEYAS DQKYRQHPSN FQFKKLTDSM DMVLAKQNAH TMNKHLYTID WNKDKTKIHV MPDTPDILQA KQNQTLYSQK LYKLGWEEAL KKGYDLPVDA ISVQLAKASR DIASDYKYKQ GYRKQLGHHV GFRSLQDDPK LVLSMNVAKM QSEREYKKDF EKWKTKFSSP VDMLGVVLAK KCQELVSDVD YKNYLHQWTC LPDQNDVVQA KKVYELQSEN LYKSDLEWLR GIGWSPLGSL EAEKNKRASE IISEKKYRQP PDRNKFTSIP DAMDIVLAKT NAKNRSDRLY REAWDKDKTQ IHIMPDTPDI VLAKANLINT SDKLYRMGYE ELKRKGYDLP VDAIPIKAAK ASREIASEYK YKEGFRKQLG HHIGARNIED DPKMMWSMHV AKIQSDREYK KDFEKWKTKF SSPVDMLGVV LAKKCQTLVS DVDYKNYLHQ WTCLPDQSDV IHARQAYDLQ SDNLYKSDLQ WLKGIGWMTS GSLEDEKNKR ATQILSDHVY RQHPDQFKFS SLMDSIPMVL AKNNAITMNH RLYTEAWDKD KTTVHIMPDT PEVLLAKQNK VNYSEKLYKL GLEEAKRKGY DMRVDAIPIK AAKASRDIAS EFKYKEGYRK QLGHHIGARA IRDDPKMMWS MHVAKIQSDR EYKKDFEKWK TKFSSPVDML GVVLAKKCQT LVSDVDYKNY LHQWTCLPDQ SDVIHARQAY DLQSDNMYKS DLQWMRGIGW VSIGSLDVEK CKRATEILSD KIYRQPPDRF KFTSVTDSLE QVLAKNNAIT MNKRLYTEAW DKDKTQIHIM PDTPEIMLAR MNKINYSESL YKLANEEAKK KGYDLRSDAI PIVAAKASRD IISDYKYKDG YCKQLGHHIG ARNIEDDPKM MWSMHVAKIQ SDREYKKDFE KWKTKFSSPV DMLGVVLAKK CQTLVSDVDY KNYLHEWTCL PDQSDVIHAR QAYDLQSDNI YKSDLQWLRG IGWVPIGSMD VVKCKRATEI LSDNIYRQPP DKLKFTSVTD SLEQVLAKNN ALNMNKRLYT EAWDKDKTQI HIMPDTPEIM LARQNKINYS ETLYKLANEE AKKKGYDLRS DAIPIVAAKA SRDVISDYKY KDGYRKQLGH HIGARNIEDD PKMMWSMHVA KIQSDREYKK DFEKWKTKFS SPVDMLGVVL AKKCQTLVSD VDYKNYLHEW TCLPDQNDVI HARQAYDLQS DNIYKSDLQW LRGIGWVPIG SMDVVKCKRA AEILSDNIYR QPPDKLKFTS VTDSLEQVLA KNNALNMNKR LYTEAWDKDK TQVHIMPDTP EIMLARQNKI NYSESLYRQA MEEAKKEGYD LRSDAIPIVA AKASRDIASD YKYKEAYRKQ LGHHIGARAV HDDPKIMWSL HIAKVQSDRE YKKDFEKYKT RYSSPVDMLG IVLAKKCQTL VSDVDYKHPL HEWICLPDQN DIIHARKAYD LQSDNLYKSD LEWMKGIGWV PIDSLEVVRA KRAGELLSDT IYRQRPETLK FTSITDTPEQ VLAKNNALNM NKRLYTEAWD NDKKTIHVMP DTPEIMLAKL NRINYSDKLY KLALEESKKE GYDLRLDAIP IQAAKASRDI ASDYKYKEGY RKQLGHHIGA RNIKDDPKMM WSIHVAKIQS DREYKKEFEK WKTKFSSPVD MLGVVLAKKC QILVSDIDYK HPLHEWTCLP DQNDVIQARK AYDLQSDAIY KSDLEWLRGI GWVPIGSVEV EKVKRAGEIL SDRKYRQPAD QLKFTCITDT PEIVLAKNNA LTMSKHLYTE AWDADKTSIH VMPDTPDILL AKSNSANISQ KLYTKGWDES KMKDYDLRAD AISIKSAKAS RDIASDYKYK EAYEKQKGHH IGAQSIEDDP KIMCAIHAGK IQSEREYKKE FQKWKTKFSS PVDMLSILLA KKCQTLVTDI DYRNYLHEWT CMPDQNDIIQ AKKAYDLQSD SVYKADLEWL RGIGWMPEGS VEMNRVKVAQ DLVNERLYRT RPEALSFTSI VDTPEVVLAK ANSLQISEKL YQEAWNKDKS NITIPSDTPE MLQAHINALQ ISNKLYQKDW NDAKQKGYDI RADAIEIKHA KASREIASEY KYKEGYRKQL GHHMGFRTLQ DDPKSVWAIH AAKIQSDREY KKAYEKSKGI HNTPLDMMSI VQAKKCQVLV SDIDYRNYLH QWTCLPDQND VIQAKKAYDL QSDNLYKSDL EWLKGIGWLP EGSVEVMRVK NAQNLLNERL YRIKPEALKF TSIVDTPEVI QAKINAVQIS EPLYRDAWEK EKANVNVPAD TPLMLQSKIN ALQISNKRYQ QAWEDVKMTG YDLRADAIGI QHAKASRDIA SDYLYKTAYE KQKGHYIGCR SAKEDPKLVW AANVLKMQND RLYKKAYNDH KAKISIPVDM VSISAAKEGQ ALASDVDYRH YLHHWSCFPD QNDVIQARKA YDLQSDSVYK ADLEWLRGIG WMPEGSVEMN RVKVAQDLVN ERLYRTRPEA LSFTSIVDTP EVVLAKANSL QISEKLYQEA WNKDKSNITI PSDTPEMLQA HINALQISNK LYQKDWNDTK QKGYDIRADA IEIKHAKASR EIASEYKYKE GYRKQLGHHM GFRTLQDDPK SVWAIHAAKI QSDREYKKAY EKSKGIHNTP LDMMSIVQAK KCQVLVSDID YRNYLHQWTC LPDQNDVIQA KKAYDLQSDN LYKSDLEWLK GIGWLPEGSV EVMRVKNAQN LLNERLYRIK PEALKFTSIV DTPEVIQAKI NAVQISEPLY RNAWEKEKAN VNVPADTPLM LQSKINALQI SNKRYQQAWE DVKMTGYDLR ADAIGIQHAK ASRDIASDYL YKTAYEKQKG HYIGCRSAKE DPKLVWAANV LKMQNDRLYK KAYNDHKAKI SIPVDMVSIS AAKEGQALAS DVDYRHYLHH WSCFPDQNDV IQARKAYDLQ SDSVYKADLE WLRGIGWMPE GSVEMNRVKV AQDLVNERLY RTRPEALSFT SIVDTPEVVL AKANSLQISE KLYQEAWNKD KSNITIPSDT PEMLQAHINA LQISNKLYQK DWNDTKQKGY DIRADAIEIK HAKASREIAS EYKYKEGYRK QLGHHMGFRT LQDDPKSVWA IHAAKIQSDR EYKKAYEKSK GIHNTPLDMM SIVQAKKCQV LVSDIDYRNY LHQWTCLPDQ NDVIQAKKAY DLQSDNLYKS DLEWLKGIGW LPEGSVEVMR VKNAQNLLNE RLYRIKPEAL KFTSIVDTPE VIQAKINAVQ ISEPLYRDAW EKEKANVNVP ADTPLMLQSK INALQISNKR YQQAWEDVKM TGYDLRADAI GIQHAKASRD IASDYLYKTA YEKQKGHYIG CRSAKEDPKL VWAANVLKMQ NDRLYKKAYN DHKAKISIPV DMVSISAAKE GQALASDVDY RHYLHRWSCF PDQNDVIQAR KAYDLQSDAL YKADLEWLRG IGWMPQGSPE VLRVKNAQNI FCDSVYRTPV VNLKYTSIVD TPEVVLAKSN AENISIPKYR EVWDKDKTSI HIMPDTPEIN LARANALNVS NKLYREGWDE MKAGCDVRLD AIPIQAAKAS REIASDYKYK LDHEKQKGHY VGTLTARDDN KIRWALIADK LQNEREYRLD WAKWKAKIQS PVDMLSILHS KNSQALVSDM DYRNYLHQWT CMPDQNDVIQ AKKAYELQSD NVYKADLEWL RGIGWMPNDS VSVNHAKHAA DIFSEKKYRT KIETLNFTPV DDRVDYVTAK QSGEILDDIK YRKDWNATKS KYTLTETPLL HTAQEAARIL DQYLYKEGWE RQKATGYILP PDAVPFVHAH HCNDVQSELK YKAEHVKQKG HYVGVPTMRD DPKLVWFEHA GQIQNERLYK EDYHKTKAKI NIPADMVSVL AAKQGQTLVS DIDYRNYLHQ WMCHPDQNDV IQARKAYDLQ SDNVYRADLE WLRGIGWIPL DSVDHVRVTK NQEMMSQIKY KKNALENYPN FRSVVDPPEI VLAKINSVNQ SDVKYKETFN KAKGKYTFSP DTPHISHSKD MGKLYSTILY KGAWEGTKAY GYTLDERYIP IVGAKHADLV NSELKYKETY EKQKGHYLAG KVIGEFPGVV HCLDFQKMRS ALNYRKHYED TKANVHIPND MMNHVLAKRC QYILSDLEYR HYFHQWTSLL EEPNVIRVRN AQEILSDNVY KDDLNWLKGI GCYVWDTPQI LHAKKSYDLQ SQLQYTAAGK ENLQNYNLVT DTPLYVTAVQ SGINASEVKY KENYHQIKDK YTTVLETVDY DRTRNLKNLY SSNLYKEAWD RVKATSYILP SSTLSLTHAK NQKHLASHIK YREEYEKFKA LYTLPRSVDD DPNTARCLRV GKLNIDRLYR SVYEKNKMKI HIVPDMVEMV TAKDSQKKVS EIDYRLRLHE WICHPDLQVN DHVRKVTDQI SDIVYKDDLN WLKGIGCYVW DTPEILHAKH AYDLRDDIKY KAHMLKTRND YKLVTDTPVY VQAVKSGKQL SDAVYHYDYV HSVRGKVAPT TKTVDLDRAL HAYKLQSSNL YKTSLRTLPT GYRLPGDTPH FKHIKDTRYM SSYFKYKEAY EHTKAYGYTL GPKDVPFVHV RRVNNVTSER LYRELYHKLK DKIHTTPDTP EIRQVKKTQE AVSELIYKSD FFKMQGHMIS LPYTPQVIHC RYVGDITSDI KYKEDLQVLK GFGCFLYDTP DMVRSRHLRK LWSNYLYTDK ARKMRDKYKV VLDTPEYRKV QELKTHLSEL VYRAAGKKQK SIFTSVPDTP DLLRAKRGQK LQSQYLYVEL ATKERPHHHA GNQTTALKHA KDVKDMVSEK KYKIQYEKMK DKYTPVPDTP ILIRAKRAYW NASDLRYKET FQKTKGKYHT VKDALDIVYH RKVTDDISKI KYKENYMSQL GIWRSIPDRP EHFHHRAVTD TVSDVKYKED LTWLKGIGCY AYDTPDFTLA EKNKTLYSKY KYKEVFERTK SDFKYVADSP INRHFKYATQ LMNERKYKSS AKMFLQHGCN EILRPDMLTA LYNSHMWSQI KYRKNYEKSK DKFTSIVDTP EHLRTTKVNK QISDILYKLE YNKAKPRGYT TIHDTPMLLH VRKVKDEVSD LKYKEVYQRN KSNCTIEPDA VHIKAAKDAY KVNTNLDYKK QYEANKAHWK WTPDRPDFLQ AAKSSLQQSD FEYKLDREFL KGCKLSVTDD KNTVLALRNT LIESDLKYKE KHVKERGTCH AVPDTPQILL AKTVSNLVSE NKYKDHVKKH LAQGSYTTLP ETRDTVHVKE VTKHVSDTNY KKKFVKEKGK SNYSIMLEPP EVKHAMEVAK KQSDVAYRKD AKENLHYTTV ADRPDIKKAT QAAKQASEVE YRAKHRKEGS HGLSMLGRPD IEMAKKAAKL SSQVKYRENF DKEKGKTPKY NPKDSQLYKV MKDANNLASE VKYKADLKKL HKPVTDMKES LIMNHVLNTS QLASSYQYKK KYEKSKGHYH TIPDNLEQLH LKEATELQSI VKYKEKYEKE RGKPMLDFET PTYITAKESQ QMQSGKEYRK DYEESIKGRN LTGLEVTPAL LHVKYATKIA SEKEYRKDLE ESIRGKGLTE MEDTPDMLRA KNATQILNEK EYKRDLELEV KGRGLNAMAN ETPDFMRARN ATDIASQIKY KQSAEMEKAN FTSVVDTPEI IHAQQVKNLS SQKKYKEDAE KSMSYYETVL DTPEIQRVRE NQKNFSLLQY QCDLKNSKGK ITVVQDTPEI LRVKENQKNF SSVLYKEDVS PGTAIGKTPE MMRVKQTQDH ISSVKYKEAI GQGTPIPDLP EVKRVKETQK HISSVMYKEN LGTGIPTTVT PEIERVKRNQ ENFSSVLYKE NLGKGIPTPI TPEMERVKRN QENFSSILYK ENLSKGTPLP VTPEMERVKL NQENFSSVLY KENVGKGIPI PITPEMERVK HNQENFSSVL YKENLGTGIP IPITPEMQRV KHNQENLSSV LYKENMGKGT PLPVTPEMER VKHNQENISS VLYKENMGKG TPLPVTPEME RVKHNQENIS SVLYKENMGK GTPLAVTPEM ERVKHNQENI SSVLYKENVG KATATPVTPE MQRVKRNQEN ISSVLYKENL GKATPTPFTP EMERVKRNQE NFSSVLYKEN MRKATPTPVT PEMERAKRNQ ENISSVLYSD SFRKQIQGKA AYVLDTPEMR RVRETQRHIS TVKYHEDFEK HKGCFTPVVT DPITERVKKN MQDFSDINYR GIQRKVVEME QKRNDQDQET ITGLRVWRTN PGSVFDYDPA EDNIQSRSLH MINVQAQRRS REQSRSASAL SISGGEEKSE HSEAPDHHLS TYSDGGVFAV STAYKHAKTT ELPQQRSSSV ATQQTTVSSI PSHPSTAGKI FRAMYDYMAA DADEVSFKDG DAIINVQAID EGWMYGTVQR TGRTGMLPAN YVEAI* | ||||||||||||||||
| Mutated AA sequence | MADDEDYEEV VEYYTEEVVY EEVPGETITK IYETTTTRTS DYEQSETSKP ALAQPALAQP ASAKLVERRK VIRKKVDPSK FMTPYIAHSQ KMQDLFSPNK YKEKFEKTKG QPYASTTDTP ELRRIKKVQD QLSEVKYRMD GDVAKTICHV DEKAKDIEHA KKVSQQVSKV LYKQNWEDTK DKYLLPPDAP ELVQAVKNTA MFSKKLYTED WEADKSLFYP YNDSPELRRV AQAQKALSDV AYKKGLAEQQ AQFTPLADPP DIEFAKKVTN QVSKQKYKED YENKIKGKWS ETPCFEVANA RMNADNISTR KYQEDFENMK DQIYFMQTET PEYKMNKKAG VAASKVKYKE DYEKNKGKAD YNVLPASENP QLRQLKAAGD ALSDKLYKEN YEKTKAKSIN YCETPKFKLD TVLQNFSSDK KYKDSYLKDI LGHYVGSFED PYHSHCMKVT AQNSDKNYKA EYEEDRGKGF FPQTITQEYE AIKKLDQCKD HTYKVHPDKT KFTQVTDSPV LLQAQVNSKQ LSDLNYKAKH ESEKFKCHIP PDTPAFIQHK VNAYNLSDNL YKQDWEKSKA KKFDIKVDAI PLLAAKANTK NTSDVMYKKD YEKNKGKMIG VLSINDDPKM LHSLKVAKNQ SDRLYKENYE KTKAKSMNYC ETPKYQLDTQ LKNFSEARYK DLYVKDVLGH YVGSMEDPYH THCMKVAAQN SDKSYKAEYE EDKGKCYFPQ TITQEYEAIK KLDQCKDHTY KVHPDKTKFT AVTDSPVLLQ AQLNTKQLSD LNYKAKHEGE KFKCHIPADA PQFIQHRVNA YNLSDNVYKQ DWEKSKAKKF DIKVDAIPLL AAKANTKNTS DVMYKKDYEK SKGKMIGALS INDDPKMLHS LKTAKNQSDR EYRKDYEKSK TIYTAPLDML QVTQAKKSQA IASDVDYKHI LHSYSYPPDS INVDLAKKAY ALQSDVEYKA DYNSWMKGCG WVPFGSLEME KAKRASDILN EKKYRQHPDT LKFTSIEDAP ITVQSKINQA QRSDIAYKAK GEEIIHKYNL PPDLPQFIQA KVNAYNISEN MYKADLKDLS KKGYDLRTDA IPIRAAKAAR QAASDVQYKK DYEKAKGKMV GFQSLQDDPK LVHYMNVAKI QSDREYKKDY EKTKSKYNTP HDMFNVVAAK KAQDVVSNVN YKHSLHHYTY LPDAMDLELS KNMMQIQSDN VYKEDYNNWM KGIGWIPIGS LDVEKVKKAG DALNEKKYRQ HPDTLKFTSI VDSPVMVQAK QNTKQVSDIL YKAKGEDVKH KYTMSPDLPQ FLQAKCNAYN ISDVCYKRDW YDLIAKGNNV LGDAIPITAA KASRNIASDY KYKEAYEKSK GKHVGFRSLQ DDPKLVHYMN VAKLQSDREY KKNYENTKTS YHTPGDMVSI TAAKMAQDVA TNVNYKQPLH HYTYLPDAMS LEHTRNVNQI QSDNVYKDEY NSFLKGIGWI PIGSLEVEKV KKAGDALNER KYRQHPDTVK FTSVPDSMGM VLAQHNTKQL SDLNYKVEGE KLKHKYTIDP ELPQFIQAKV NALNMSDAHY KADWKKTIAK GYDLRPDAIP IVAAKSSRNI ASDCKYKEAY EKAKGKQVGF LSLQDDPKLV HYMNVAKIQS DREYKKGYEA SKTKYHTPLD MVSVTAAKKS QEVATNANYR QSYHHYTLLP DALNVEHSRN AMQIQSDNLY KSDFTNWMKG IGWVPIESLE VEKAKKAGEI LSEKKYRQHP EKLKFTYAMD TMEQALNKSN KLNMDKRLYT EKWNKDKTTI HVMPDTPDIL LSRVNQITMS DKLYKAGWEE EKKKGYDLRP DAIAIKAARA SRDIASDYKY KKAYEQAKGK HIGFRSLEDD PKLVHFMQVA KMQSDREYKK GYEKSKTSFH TPVDMLSVVA AKKSQEVATN ANYRNVIHTY NMLPDAMSFE LAKNMMQIQS DNQYKADYAD FMKGIGWLPL GSLEAEKNKK AMEIISEKKY RQHPDTLKYS TLMDSMNMVL AQNNAKIMNE HLYKQAWEAD KTKVHIMPDI PQIILAKANA INMSDKLYKL SLEESKKKGY DLRPDAIPIK AAKASRDIAS DYKYKYNYEK GKGKMVGFRS LEDDPKLVHS MQVAKMQSDR EYKKNYENTK TSYHTPADML SVTAAKDAQA NITNTNYKHL IHKYILLPDA MNIELTRNMN RIQSDNEYKQ DYNEWYKGLG WSPAGSLEVE KAKKATEYAS DQKYRQHPSN FQFKKLTDSM DMVLAKQNAH TMNKHLYTID WNKDKTKIHV MPDTPDILQA KQNQTLYSQK LYKLGWEEAL KKGYDLPVDA ISVQLAKASR DIASDYKYKQ GYRKQLGHHV GFRSLQDDPK LVLSMNVAKM QSEREYKKDF EKWKTKFSSP VDMLGVVLAK KCQELVSDVD YKNYLHQWTC LPDQNDVVQA KKVYELQSEN LYKSDLEWLR GIGWSPLGSL EAEKNKRASE IISEKKYRQP PDRNKFTSIP DAMDIVLAKT NAKNRSDRLY REAWDKDKTQ IHIMPDTPDI VLAKANLINT SDKLYRMGYE ELKRKGYDLP VDAIPIKAAK ASREIASEYK YKEGFRKQLG HHIGARNIED DPKMMWSMHV AKIQSDREYK KDFEKWKTKF SSPVDMLGVV LAKKCQTLVS DVDYKNYLHQ WTCLPDQSDV IHARQAYDLQ SDNLYKSDLQ WLKGIGWMTS GSLEDEKNKR ATQILSDHVY RQHPDQFKFS SLMDSIPMVL AKNNAITMNH RLYTEAWDKD KTTVHIMPDT PEVLLAKQNK VNYSEKLYKL GLEEAKRKGY DMRVDAIPIK AAKASRDIAS EFKYKEGYRK QLGHHIGARA IRDDPKMMWS MHVAKIQSDR EYKKDFEKWK TKFSSPVDML GVVLAKKCQT LVSDVDYKNY LHQWTCLPDQ SDVIHARQAY DLQSDNMYKS DLQWMRGIGW VSIGSLDVEK CKRATEILSD KIYRQPPDRF KFTSVTDSLE QVLAKNNAIT MNKRLYTEAW DKDKTQIHIM PDTPEIMLAR MNKINYSESL YKLANEEAKK KGYDLRSDAI PIVAAKASRD IISDYKYKDG YCKQLGHHIG ARNIEDDPKM MWSMHVAKIQ SDREYKKDFE KWKTKFSSPV DMLGVVLAKK CQTLVSDVDY KNYLHEWTCL PDQSDVIHAR QAYDLQSDNI YKSDLQWLRG IGWVPIGSMD VVKCKRATEI LSDNIYRQPP DKLKFTSVTD SLEQVLAKNN ALNMNKRLYT EAWDKDKTQI HIMPDTPEIM LARQNKINYS ETLYKLANEE AKKKGYDLRS DAIPIVAAKA SRDVISDYKY KDGYRKQLGH HIGARNIEDD PKMMWSMHVA KIQSDREYKK DFEKWKTKFS SPVDMLGVVL AKKCQTLVSD VDYKNYLHEW TCLPDQNDVI HARQAYDLQS DNIYKSDLQW LRGIGWVPIG SMDVVKCKRA AEILSDNIYR QPPDKLKFTS VTDSLEQVLA KNNALNMNKR LYTEAWDKDK TQVHIMPDTP EIMLARQNKI NYSESLYRQA MEEAKKEGYD LRSDAIPIVA AKASRDIASD YKYKEAYRKQ LGHHIGARAV HDDPKIMWSL HIAKVQSDRE YKKDFEKYKT RYSSPVDMLG IVLAKKCQTL VSDVDYKHPL HEWICLPDQN DIIHARKAYD LQSDNLYKSD LEWMKGIGWV PIDSLEVVRA KRAGELLSDT IYRQRPETLK FTSITDTPEQ VLAKNNALNM NKRLYTEAWD NDKKTIHVMP DTPEIMLAKL NRINYSDKLY KLALEESKKE GYDLRLDAIP IQAAKASRDI ASDYKYKEGY RKQLGHHIGA RNIKDDPKMM WSIHVAKIQS DREYKKEFEK WKTKFSSPVD MLGVVLAKKC QILVSDIDYK HPLHEWTCLP DQNDVIQARK AYDLQSDAIY KSDLEWLRGI GWVPIGSVEV EKVKRAGEIL SDRKYRQPAD QLKFTCITDT PEIVLAKNNA LTMSKHLYTE AWDADKTSIH VMPDTPDILL AKSNSANISQ KLYTKGWDES KMKDYDLRAD AISIKSAKAS RDIASDYKYK EAYEKQKGHH IGAQSIEDDP KIMCAIHAGK IQSEREYKKE FQKWKTKFSS PVDMLSILLA KKCQTLVTDI DYRNYLHEWT CMPDQNDIIQ AKKAYDLQSD SVYKADLEWL RGIGWMPEGS VEMNRVKVAQ DLVNERLYRT RPEALSFTSI VDTPEVVLAK ANSLQISEKL YQEAWNKDKS NITIPSDTPE MLQAHINALQ ISNKLYQKDW NDAKQKGYDI RADAIEIKHA KASREIASEY KYKEGYRKQL GHHMGFRTLQ DDPKSVWAIH AAKIQSDREY KKAYEKSKGI HNTPLDMMSI VQAKKCQVLV SDIDYRNYLH QWTCLPDQND VIQAKKAYDL QSDNLYKSDL EWLKGIGWLP EGSVEVMRVK NAQNLLNERL YRIKPEALKF TSIVDTPEVI QAKINAVQIS EPLYRDAWEK EKANVNVPAD TPLMLQSKIN ALQISNKRYQ QAWEDVKMTG YDLRADAIGI QHAKASRDIA SDYLYKTAYE KQKGHYIGCR SAKEDPKLVW AANVLKMQND RLYKKAYNDH KAKISIPVDM VSISAAKEGQ ALASDVDYRH YLHHWSCFPD QNDVIQARKA YDLQSDSVYK ADLEWLRGIG WMPEGSVEMN RVKVAQDLVN ERLYRTRPEA LSFTSIVDTP EVVLAKANSL QISEKLYQEA WNKDKSNITI PSDTPEMLQA HINALQISNK LYQKDWNDTK QKGYDIRADA IEIKHAKASR EIASEYKYKE GYRKQLGHHM GFRTLQDDPK SVWAIHAAKI QSDREYKKAY EKSKGIHNTP LDMMSIVQAK KCQVLVSDID YRNYLHQWTC LPDQNDVIQA KKAYDLQSDN LYKSDLEWLK GIGWLPEGSV EVMRVKNAQN LLNERLYRIK PEALKFTSIV DTPEVIQAKI NAVQISEPLY RNAWEKEKAN VNVPADTPLM LQSKINALQI SNKRYQQAWE DVKMTGYDLR ADAIGIQHAK ASRDIASDYL YKTAYEKQKG HYIGCRSAKE DPKLVWAANV LKMQNDRLYK KAYNDHKAKI SIPVDMVSIS AAKEGQALAS DVDYRHYLHH WSCFPDQNDV IQARKAYDLQ SDSVYKADLE WLRGIGWMPE GSVEMNRVKV AQDLVNERLY RTRPEALSFT SIVDTPEVVL AKANSLQISE KLYQEAWNKD KSNITIPSDT PEMLQAHINA LQISNKLYQK DWNDTKQKGY DIRADAIEIK HAKASREIAS EYKYKEGYRK QLGHHMGFRT LQDDPKSVWA IHAAKIQSDR EYKKAYEKSK GIHNTPLDMM SIVQAKKCQV LVSDIDYRNY LHQWTCLPDQ NDVIQAKKAY DLQSDNLYKS DLEWLKGIGW LPEGSVEVMR VKNAQNLLNE RLYRIKPEAL KFTSIVDTPE VIQAKINAVQ ISEPLYRDAW EKEKANVNVP ADTPLMLQSK INALQISNKR YQQAWEDVKM TGYDLRADAI GIQHAKASRD IASDYLYKTA YEKQKGHYIG CRSAKEDPKL VWAANVLKMQ NDRLYKKAYN DHKAKISIPV DMVSISAAKE GQALASDVDY RHYLHRWSCF PDQNDVIQAR KAYDLQSDAL YKADLEWLRG IGWMPQGSPE VLRVKNAQNI FCDSVYRTPV VNLKYTSIVD TPEVVLAKSN AENISIPKYR EVWDKDKTSI HIMPDTPEIN LARANALNVS NKLYREGWDE MKAGCDVRLD AIPIQAAKAS REIASDYKYK LDHEKQKGHY VGTLTARDDN KIRWALIADK LQNEREYRLD WAKWKAKIQS PVDMLSILHS KNSQALVSDM DYRNYLHQWT CMPDQNDVIQ AKKAYELQSD NVYKADLEWL RGIGWMPNDS VSVNHAKHAA DIFSEKKYRT KIETLNFTPV DDRVDYVTAK QSGEILDDIK YRKDWNATKS KYTLTETPLL HTAQEAARIL DQYLYKEGWE RQKATGYILP PDAVPFVHAH HCNDVQSELK YKAEHVKQKG HYVGVPTMRD DPKLVWFEHA GQIQNERLYK EDYHKTKAKI NIPADMVSVL AAKQGQTLVS DIDYRNYLHQ WMCHPDQNDV IQARKAYDLQ SDNVYRADLE WLRGIGWIPL DSVDHVRVTK NQEMMSQIKY KKNALENYPN FRSVVDPPEI VLAKINSVNQ SDVKYKETFN KAKGKYTFSP DTPHISHSKD MGKLYSTILY KGAWEGTKAY GYTLDERYIP IVGAKHADLV NSELKYKETY EKQKGHYLAG KVIGEFPGVV HCLDFQKMRS ALNYRKHYED TKANVHIPND MMNHVLAKRC QYILSDLEYR HYFHQWTSLL EEPNVIRVRN AQEILSDNVY KDDLNWLKGI GCYVWDTPQI LHAKKSYDLQ SQLQYTAAGK ENLQNYNLVT DTPLYVTAVQ SGINASEVKY KENYHQIKDK YTTVLETVDY DRTRNLKNLY SSNLYKEAWD RVKATSYILP SSTLSLTHAK NQKHLASHIK YREEYEKFKA LYTLPRSVDD DPNTARCLRV GKLNIDRLYR SVYEKNKMKI HIVPDMVEMV TAKDSQKKVS EIDYRLRLHE WICHPDLQVN DHVRKVTDQI SDIVYKDDLN WLKGIGCYVW DTPEILHAKH AYDLRDDIKY KAHMLKTRND YKLVTDTPVY VQAVKSGKQL SDAVYHYDYV HSVRGKVAPT TKTVDLDRAL HAYKLQSSNL YKTSLRTLPT GYRLPGDTPH FKHIKDTRYM SSYFKYKEAY EHTKAYGYTL GPKDVPFVHV RRVNNVTSER LYRELYHKLK DKIHTTPDTP EIRQVKKTQE AVSELIYKSD FFKMQGHMIS LPYTPQVIHC RYVGDITSDI KYKEDLQVLK GFGCFLYDTP DMVRSRHLRK LWSNYLYTDK ARKMRDKYKV VLDTPEYRKV QELKTHLSEL VYRAAGKKQK SIFTSVPDTP DLLRAKRGQK LQSQYLYVEL ATKERPHHHA GNQTTALKHA KDVKDMVSEK KYKIQYEKMK DKYTPVPDTP ILIRAKRAYW NASDLRYKET FQKTKGKYHT VKDALDIVYH RKVTDDISKI KYKENYMSQL GIWRSIPDRP EHFHHRAVTD TVSDVKYKED LTWLKGIGCY AYDTPDFTLA EKNKTLYSKY KYKEVFERTK SDFKYVADSP INRHFKYATQ LMNERKYKSS AKMFLQHGCN EILRPDMLTA LYNSHMWSQI KYRKNYEKSK DKFTSIVDTP EHLRTTKVNK QISDILYKLE YNKAKPRGYT TIHDTPMLLH VRKVKDEVSD LKYKEVYQRN KSNCTIEPDA VHIKAAKDAY KVNTNLDYKK QYEANKAHWK WTPDRPDFLQ AAKSSLQQSD FEYKLDREFL KGCKLSVTDD KNTVLALRNT LIESDLKYKE KHVKERGTCH AVPDTPQILL AKTVSNLVSE NKYKDHVKKH LAQGSYTTLP ETRDTVHVKE VTKHVSDTNY KKKFVKEKGK SNYSIMLEPP EVKHAMEVAK KQSDVAYRKD AKENLHYTTV ADRPDIKKAT QAAKQASEVE YRAKHRKEGS HGLSMLGRPD IEMAKKAAKL SSQVKYRENF DKEKGKTPKY NPKDSQLYKV MKDANNLASE VKYKADLKKL HKPVTDMKES LIMNHVLNTS QLASSYQYKK KYEKSKGHYH TIPDNLEQLH LKEATELQSI VKYKEKYEKE RGKPMLDFET PTYITAKESQ QMQSGKEYRK DYEESIKGRN LTGLEVTPAL LHVKYATKIA SEKEYRKDLE ESIRGKGLTE MEDTPDMLRA KNATQILNEK EYKRDLELEV KGRGLNAMAN ETPDFMRARN ATDIASQIKY KQSAEMEKAN FTSVVDTPEI IHAQQVKNLS SQKKYKEDAE KSMSYYETVL DTPEIQRVRE NQKNFSLLQY QCDLKNSKGK ITVVQDTPEI LRVKENQKNF SSVLYKEDVS PGTAIGKTPE MMRVKQTQDH ISSVKYKEAI GQGTPIPDLP EVKRVKETQK HISSVMYKEN LGTGIPTTVT PEIERVKRNQ ENFSSVLYKE NLGKGIPTPI TPEMERVKRN QENFSSILYK ENLSKGTPLP VTPEMERVKL NQENFSSVLY KENVGKGIPI PITPEMERVK HNQENFSSVL YKENLGTGIP IPITPEMQRV KHNQENLSSV LYKENMGKGT PLPVTPEMER VKHNQENISS VLYKENMGKG TPLPVTPEME RVKHNQENIS SVLYKENMGK GTPLAVTPEM ERVKHNQENI SSVLYKENVG KATATPVTPE MQRVKRNQEN ISSVLYKENL GKATPTPFTP EMERVKRNQE NFSSVLYKEN MRKATPTPVT PEMERAKRNQ ENISSVLYSD SFRKQIQGKA AYVLDTPEMR RVRETQRHIS TVKYHEDFEK HKGCFTPVVT DPITERVKKN MQDFSDINYR GIQRKVVEME QKRNDQDQET ITGLRVWRTN PGSVFDYDPA EDNIQSRSLH MINVQAQRRS REQSRSASAL SISGGEEKSE HSEAPDHHLS TYSDGGVFAV STAYKHAKTT ELPQQRSSSV ATQQTTVSSI PSHPSTAGKI FRAMYDYMAA DADEVSFKDG DAIINVQAID EGWMYGTVQR TGRTGMLPAN YVEAI* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 25578 / 25578 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 8526 / 8526 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 25770 / 25770 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 193 / 193 | ||||||||||||||||
| Last intron/exon boundary | 25596 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 25353 | ||||||||||||||||
| Length of CDS | 25578 | ||||||||||||||||
| Coding sequence (CDS) position | 194 | ||||||||||||||||
| cDNA position | 386 | ||||||||||||||||
| gDNA position | 6697 | ||||||||||||||||
| Chromosomal position | 151727791 | ||||||||||||||||
| Speed | 0.11 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr2:151727791G>A (GRCh38) | ||||||||||||||||
| Gene symbol | NEB | ||||||||||||||||
| Gene constraints | LOEUF: 0.60, LOF (oe): 0.55, misssense (oe): 0.93, synonymous (oe): 0.94 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000427231.7 | ||||||||||||||||
| Genbank transcript ID | NM_001164507 (exact from MANE) | ||||||||||||||||
| UniProt / AlphaMissense peptide | NEBU_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.194C>T g.6697C>T | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 2 | ||||||||||||||||
| Strand | -1 | ||||||||||||||||
| Original gDNA sequence snippet | ACAGCCAGCATCAGCAAAGCCGGTGGAGAGGAGGAAGGTCA | ||||||||||||||||
| Altered gDNA sequence snippet | ACAGCCAGCATCAGCAAAGCTGGTGGAGAGGAGGAAGGTCA | ||||||||||||||||
| Original cDNA sequence snippet | ACAGCCAGCATCAGCAAAGCCGGTGGAGAGGAGGAAGGTCA | ||||||||||||||||
| Altered cDNA sequence snippet | ACAGCCAGCATCAGCAAAGCTGGTGGAGAGGAGGAAGGTCA | ||||||||||||||||
| Wildtype AA sequence | MADDEDYEEV VEYYTEEVVY EEVPGETITK IYETTTTRTS DYEQSETSKP ALAQPALAQP ASAKPVERRK VIRKKVDPSK FMTPYIAHSQ KMQDLFSPNK YKEKFEKTKG QPYASTTDTP ELRRIKKVQD QLSEVKYRMD GDVAKTICHV DEKAKDIEHA KKVSQQVSKV LYKQNWEDTK DKYLLPPDAP ELVQAVKNTA MFSKKLYTED WEADKSLFYP YNDSPELRRV AQAQKALSDV AYKKGLAEQQ AQFTPLADPP DIEFAKKVTN QVSKQKYKED YENKIKGKWS ETPCFEVANA RMNADNISTR KYQEDFENMK DQIYFMQTET PEYKMNKKAG VAASKVKYKE DYEKNKGKAD YNVLPASENP QLRQLKAAGD ALSDKLYKEN YEKTKAKSIN YCETPKFKLD TVLQNFSSDK KYKDSYLKDI LGHYVGSFED PYHSHCMKVT AQNSDKNYKA EYEEDRGKGF FPQTITQEYE AIKKLDQCKD HTYKVHPDKT KFTQVTDSPV LLQAQVNSKQ LSDLNYKAKH ESEKFKCHIP PDTPAFIQHK VNAYNLSDNL YKQDWEKSKA KKFDIKVDAI PLLAAKANTK NTSDVMYKKD YEKNKGKMIG VLSINDDPKM LHSLKVAKNQ SDRLYKENYE KTKAKSMNYC ETPKYQLDTQ LKNFSEARYK DLYVKDVLGH YVGSMEDPYH THCMKVAAQN SDKSYKAEYE EDKGKCYFPQ TITQEYEAIK KLDQCKDHTY KVHPDKTKFT AVTDSPVLLQ AQLNTKQLSD LNYKAKHEGE KFKCHIPADA PQFIQHRVNA YNLSDNVYKQ DWEKSKAKKF DIKVDAIPLL AAKANTKNTS DVMYKKDYEK SKGKMIGALS INDDPKMLHS LKTAKNQSDR EYRKDYEKSK TIYTAPLDML QVTQAKKSQA IASDVDYKHI LHSYSYPPDS INVDLAKKAY ALQSDVEYKA DYNSWMKGCG WVPFGSLEME KAKRASDILN EKKYRQHPDT LKFTSIEDAP ITVQSKINQA QRSDIAYKAK GEEIIHKYNL PPDLPQFIQA KVNAYNISEN MYKADLKDLS KKGYDLRTDA IPIRAAKAAR QAASDVQYKK DYEKAKGKMV GFQSLQDDPK LVHYMNVAKI QSDREYKKDY EKTKSKYNTP HDMFNVVAAK KAQDVVSNVN YKHSLHHYTY LPDAMDLELS KNMMQIQSDN VYKEDYNNWM KGIGWIPIGS LDVEKVKKAG DALNEKKYRQ HPDTLKFTSI VDSPVMVQAK QNTKQVSDIL YKAKGEDVKH KYTMSPDLPQ FLQAKCNAYN ISDVCYKRDW YDLIAKGNNV LGDAIPITAA KASRNIASDY KYKEAYEKSK GKHVGFRSLQ DDPKLVHYMN VAKLQSDREY KKNYENTKTS YHTPGDMVSI TAAKMAQDVA TNVNYKQPLH HYTYLPDAMS LEHTRNVNQI QSDNVYKDEY NSFLKGIGWI PIGSLEVEKV KKAGDALNER KYRQHPDTVK FTSVPDSMGM VLAQHNTKQL SDLNYKVEGE KLKHKYTIDP ELPQFIQAKV NALNMSDAHY KADWKKTIAK GYDLRPDAIP IVAAKSSRNI ASDCKYKEAY EKAKGKQVGF LSLQDDPKLV HYMNVAKIQS DREYKKGYEA SKTKYHTPLD MVSVTAAKKS QEVATNANYR QSYHHYTLLP DALNVEHSRN AMQIQSDNLY KSDFTNWMKG IGWVPIESLE VEKAKKAGEI LSEKKYRQHP EKLKFTYAMD TMEQALNKSN KLNMDKRLYT EKWNKDKTTI HVMPDTPDIL LSRVNQITMS DKLYKAGWEE EKKKGYDLRP DAIAIKAARA SRDIASDYKY KKAYEQAKGK HIGFRSLEDD PKLVHFMQVA KMQSDREYKK GYEKSKTSFH TPVDMLSVVA AKKSQEVATN ANYRNVIHTY NMLPDAMSFE LAKNMMQIQS DNQYKADYAD FMKGIGWLPL GSLEAEKNKK AMEIISEKKY RQHPDTLKYS TLMDSMNMVL AQNNAKIMNE HLYKQAWEAD KTKVHIMPDI PQIILAKANA INMSDKLYKL SLEESKKKGY DLRPDAIPIK AAKASRDIAS DYKYKYNYEK GKGKMVGFRS LEDDPKLVHS MQVAKMQSDR EYKKNYENTK TSYHTPADML SVTAAKDAQA NITNTNYKHL IHKYILLPDA MNIELTRNMN RIQSDNEYKQ DYNEWYKGLG WSPAGSLEVE KAKKATEYAS DQKYRQHPSN FQFKKLTDSM DMVLAKQNAH TMNKHLYTID WNKDKTKIHV MPDTPDILQA KQNQTLYSQK LYKLGWEEAL KKGYDLPVDA ISVQLAKASR DIASDYKYKQ GYRKQLGHHV GFRSLQDDPK LVLSMNVAKM QSEREYKKDF EKWKTKFSSP VDMLGVVLAK KCQELVSDVD YKNYLHQWTC LPDQNDVVQA KKVYELQSEN LYKSDLEWLR GIGWSPLGSL EAEKNKRASE IISEKKYRQP PDRNKFTSIP DAMDIVLAKT NAKNRSDRLY REAWDKDKTQ IHIMPDTPDI VLAKANLINT SDKLYRMGYE ELKRKGYDLP VDAIPIKAAK ASREIASEYK YKEGFRKQLG HHIGARNIED DPKMMWSMHV AKIQSDREYK KDFEKWKTKF SSPVDMLGVV LAKKCQTLVS DVDYKNYLHQ WTCLPDQSDV IHARQAYDLQ SDNLYKSDLQ WLKGIGWMTS GSLEDEKNKR ATQILSDHVY RQHPDQFKFS SLMDSIPMVL AKNNAITMNH RLYTEAWDKD KTTVHIMPDT PEVLLAKQNK VNYSEKLYKL GLEEAKRKGY DMRVDAIPIK AAKASRDIAS EFKYKEGYRK QLGHHIGARA IRDDPKMMWS MHVAKIQSDR EYKKDFEKWK TKFSSPVDML GVVLAKKCQT LVSDVDYKNY LHQWTCLPDQ SDVIHARQAY DLQSDNMYKS DLQWMRGIGW VSIGSLDVEK CKRATEILSD KIYRQPPDRF KFTSVTDSLE QVLAKNNAIT MNKRLYTEAW DKDKTQIHIM PDTPEIMLAR MNKINYSESL YKLANEEAKK KGYDLRSDAI PIVAAKASRD IISDYKYKDG YCKQLGHHIG ARNIEDDPKM MWSMHVAKIQ SDREYKKDFE KWKTKFSSPV DMLGVVLAKK CQTLVSDVDY KNYLHEWTCL PDQSDVIHAR QAYDLQSDNI YKSDLQWLRG IGWVPIGSMD VVKCKRATEI LSDNIYRQPP DKLKFTSVTD SLEQVLAKNN ALNMNKRLYT EAWDKDKTQI HIMPDTPEIM LARQNKINYS ETLYKLANEE AKKKGYDLRS DAIPIVAAKA SRDVISDYKY KDGYRKQLGH HIGARNIEDD PKMMWSMHVA KIQSDREYKK DFEKWKTKFS SPVDMLGVVL AKKCQTLVSD VDYKNYLHEW TCLPDQNDVI HARQAYDLQS DNIYKSDLQW LRGIGWVPIG SMDVVKCKRA AEILSDNIYR QPPDKLKFTS VTDSLEQVLA KNNALNMNKR LYTEAWDKDK TQVHIMPDTP EIMLARQNKI NYSESLYRQA MEEAKKEGYD LRSDAIPIVA AKASRDIASD YKYKEAYRKQ LGHHIGARAV HDDPKIMWSL HIAKVQSDRE YKKDFEKYKT RYSSPVDMLG IVLAKKCQTL VSDVDYKHPL HEWICLPDQN DIIHARKAYD LQSDNLYKSD LEWMKGIGWV PIDSLEVVRA KRAGELLSDT IYRQRPETLK FTSITDTPEQ VLAKNNALNM NKRLYTEAWD NDKKTIHVMP DTPEIMLAKL NRINYSDKLY KLALEESKKE GYDLRLDAIP IQAAKASRDI ASDYKYKEGY RKQLGHHIGA RNIKDDPKMM WSIHVAKIQS DREYKKEFEK WKTKFSSPVD MLGVVLAKKC QILVSDIDYK HPLHEWTCLP DQNDVIQARK AYDLQSDAIY KSDLEWLRGI GWVPIGSVEV EKVKRAGEIL SDRKYRQPAD QLKFTCITDT PEIVLAKNNA LTMSKHLYTE AWDADKTSIH VMPDTPDILL AKSNSANISQ KLYTKGWDES KMKDYDLRAD AISIKSAKAS RDIASDYKYK EAYEKQKGHH IGAQSIEDDP KIMCAIHAGK IQSEREYKKE FQKWKTKFSS PVDMLSILLA KKCQTLVTDI DYRNYLHEWT CMPDQNDIIQ AKKAYDLQSD SVYKADLEWL RGIGWMPEGS VEMNRVKVAQ DLVNERLYRT RPEALSFTSI VDTPEVVLAK ANSLQISEKL YQEAWNKDKS NITIPSDTPE MLQAHINALQ ISNKLYQKDW NDAKQKGYDI RADAIEIKHA KASREIASEY KYKEGYRKQL GHHMGFRTLQ DDPKSVWAIH AAKIQSDREY KKAYEKSKGI HNTPLDMMSI VQAKKCQVLV SDIDYRNYLH QWTCLPDQND VIQAKKAYDL QSDNLYKSDL EWLKGIGWLP EGSVEVMRVK NAQNLLNERL YRIKPEALKF TSIVDTPEVI QAKINAVQIS EPLYRDAWEK EKANVNVPAD TPLMLQSKIN ALQISNKRYQ QAWEDVKMTG YDLRADAIGI QHAKASRDIA SDYLYKTAYE KQKGHYIGCR SAKEDPKLVW AANVLKMQND RLYKKAYNDH KAKISIPVDM VSISAAKEGQ ALASDVDYRH YLHHWSCFPD QNDVIQARKA YDLQSDSVYK ADLEWLRGIG WMPEGSVEMN RVKVAQDLVN ERLYRTRPEA LSFTSIVDTP EVVLAKANSL QISEKLYQEA WNKDKSNITI PSDTPEMLQA HINALQISNK LYQKDWNDTK QKGYDIRADA IEIKHAKASR EIASEYKYKE GYRKQLGHHM GFRTLQDDPK SVWAIHAAKI QSDREYKKAY EKSKGIHNTP LDMMSIVQAK KCQVLVSDID YRNYLHQWTC LPDQNDVIQA KKAYDLQSDN LYKSDLEWLK GIGWLPEGSV EVMRVKNAQN LLNERLYRIK PEALKFTSIV DTPEVIQAKI NAVQISEPLY RNAWEKEKAN VNVPADTPLM LQSKINALQI SNKRYQQAWE DVKMTGYDLR ADAIGIQHAK ASRDIASDYL YKTAYEKQKG HYIGCRSAKE DPKLVWAANV LKMQNDRLYK KAYNDHKAKI SIPVDMVSIS AAKEGQALAS DVDYRHYLHH WSCFPDQNDV IQARKAYDLQ SDSVYKADLE WLRGIGWMPE GSVEMNRVKV AQDLVNERLY RTRPEALSFT SIVDTPEVVL AKANSLQISE KLYQEAWNKD KSNITIPSDT PEMLQAHINA LQISNKLYQK DWNDTKQKGY DIRADAIEIK HAKASREIAS EYKYKEGYRK QLGHHMGFRT LQDDPKSVWA IHAAKIQSDR EYKKAYEKSK GIHNTPLDMM SIVQAKKCQV LVSDIDYRNY LHQWTCLPDQ NDVIQAKKAY DLQSDNLYKS DLEWLKGIGW LPEGSVEVMR VKNAQNLLNE RLYRIKPEAL KFTSIVDTPE VIQAKINAVQ ISEPLYRDAW EKEKANVNVP ADTPLMLQSK INALQISNKR YQQAWEDVKM TGYDLRADAI GIQHAKASRD IASDYLYKTA YEKQKGHYIG CRSAKEDPKL VWAANVLKMQ NDRLYKKAYN DHKAKISIPV DMVSISAAKE GQALASDVDY RHYLHRWSCF PDQNDVIQAR KAYDLQSDAL YKADLEWLRG IGWMPQGSPE VLRVKNAQNI FCDSVYRTPV VNLKYTSIVD TPEVVLAKSN AENISIPKYR EVWDKDKTSI HIMPDTPEIN LARANALNVS NKLYREGWDE MKAGCDVRLD AIPIQAAKAS REIASDYKYK LDHEKQKGHY VGTLTARDDN KIRWALIADK LQNEREYRLD WAKWKAKIQS PVDMLSILHS KNSQALVSDM DYRNYLHQWT CMPDQNDVIQ AKKAYELQSD NVYKADLEWL RGIGWMPNDS VSVNHAKHAA DIFSEKKYRT KIETLNFTPV DDRVDYVTAK QSGEILDDIK YRKDWNATKS KYTLTETPLL HTAQEAARIL DQYLYKEGWE RQKATGYILP PDAVPFVHAH HCNDVQSELK YKAEHVKQKG HYVGVPTMRD DPKLVWFEHA GQIQNERLYK EDYHKTKAKI NIPADMVSVL AAKQGQTLVS DIDYRNYLHQ WMCHPDQNDV IQARKAYDLQ SDNVYRADLE WLRGIGWIPL DSVDHVRVTK NQEMMSQIKY KKNALENYPN FRSVVDPPEI VLAKINSVNQ SDVKYKETFN KAKGKYTFSP DTPHISHSKD MGKLYSTILY KGAWEGTKAY GYTLDERYIP IVGAKHADLV NSELKYKETY EKQKGHYLAG KVIGEFPGVV HCLDFQKMRS ALNYRKHYED TKANVHIPND MMNHVLAKRC QYILSDLEYR HYFHQWTSLL EEPNVIRVRN AQEILSDNVY KDDLNWLKGI GCYVWDTPQI LHAKKSYDLQ SQLQYTAAGK ENLQNYNLVT DTPLYVTAVQ SGINASEVKY KENYHQIKDK YTTVLETVDY DRTRNLKNLY SSNLYKEAWD RVKATSYILP SSTLSLTHAK NQKHLASHIK YREEYEKFKA LYTLPRSVDD DPNTARCLRV GKLNIDRLYR SVYEKNKMKI HIVPDMVEMV TAKDSQKKVS EIDYRLRLHE WICHPDLQVN DHVRKVTDQI SDIVYKDDLN WLKGIGCYVW DTPEILHAKH AYDLRDDIKY KAHMLKTRND YKLVTDTPVY VQAVKSGKQL SDAVYHYDYV HSVRGKVAPT TKTVDLDRAL HAYKLQSSNL YKTSLRTLPT GYRLPGDTPH FKHIKDTRYM SSYFKYKEAY EHTKAYGYTL GPKDVPFVHV RRVNNVTSER LYRELYHKLK DKIHTTPDTP EIRQVKKTQE AVSELIYKSD FFKMQGHMIS LPYTPQVIHC RYVGDITSDI KYKEDLQVLK GFGCFLYDTP DMVRSRHLRK LWSNYLYTDK ARKMRDKYKV VLDTPEYRKV QELKTHLSEL VYRAAGKKQK SIFTSVPDTP DLLRAKRGQK LQSQYLYVEL ATKERPHHHA GNQTTALKHA KDVKDMVSEK KYKIQYEKMK DKYTPVPDTP ILIRAKRAYW NASDLRYKET FQKTKGKYHT VKDALDIVYH RKVTDDISKI KYKENYMSQL GIWRSIPDRP EHFHHRAVTD TVSDVKYKED LTWLKGIGCY AYDTPDFTLA EKNKTLYSKY KYKEVFERTK SDFKYVADSP INRHFKYATQ LMNEKKYRAD YEQRKDKYHL VVDEPRHLLA KTAGDQISQI KYRKNYEKSK DKFTSIVDTP EHLRTTKVNK QISDILYKLE YNKAKPRGYT TIHDTPMLLH VRKVKDEVSD LKYKEVYQRN KSNCTIEPDA VHIKAAKDAY KVNTNLDYKK QYEANKAHWK WTPDRPDFLQ AAKSSLQQSD FEYKLDREFL KGCKLSVTDD KNTVLALRNT LIESDLKYKE KHVKERGTCH AVPDTPQILL AKTVSNLVSE NKYKDHVKKH LAQGSYTTLP ETRDTVHVKE VTKHVSDTNY KKKFVKEKGK SNYSIMLEPP EVKHAMEVAK KQSDVAYRKD AKENLHYTTV ADRPDIKKAT QAAKQASEVE YRAKHRKEGS HGLSMLGRPD IEMAKKAAKL SSQVKYRENF DKEKGKTPKY NPKDSQLYKV MKDANNLASE VKYKADLKKL HKPVTDMKES LIMNHVLNTS QLASSYQYKK KYEKSKGHYH TIPDNLEQLH LKEATELQSI VKYKEKYEKE RGKPMLDFET PTYITAKESQ QMQSGKEYRK DYEESIKGRN LTGLEVTPAL LHVKYATKIA SEKEYRKDLE ESIRGKGLTE MEDTPDMLRA KNATQILNEK EYKRDLELEV KGRGLNAMAN ETPDFMRARN ATDIASQIKY KQSAEMEKAN FTSVVDTPEI IHAQQVKNLS SQKKYKEDAE KSMSYYETVL DTPEIQRVRE NQKNFSLLQY QCDLKNSKGK ITVVQDTPEI LRVKENQKNF SSVLYKEDVS PGTAIGKTPE MMRVKQTQDH ISSVKYKEAI GQGTPIPDLP EVKRVKETQK HISSVMYKEN LGTGIPTTVT PEIERVKRNQ ENFSSVLYKE NLGKGIPTPI TPEMERVKRN QENFSSILYK ENLSKGTPLP VTPEMERVKL NQENFSSVLY KENVGKGIPI PITPEMERVK HNQENFSSVL YKENLGTGIP IPITPEMQRV KHNQENLSSV LYKENMGKGT PLPVTPEMER VKHNQENISS VLYKENMGKG TPLPVTPEME RVKHNQENIS SVLYKENMGK GTPLAVTPEM ERVKHNQENI SSVLYKENVG KATATPVTPE MQRVKRNQEN ISSVLYKENL GKATPTPFTP EMERVKRNQE NFSSVLYKEN MRKATPTPVT PEMERAKRNQ ENISSVLYSD SFRKQIQGKA AYVLDTPEMR RVRETQRHIS TVKYHEDFEK HKGCFTPVVT DPITERVKKN MQDFSDINYR GIQRKVVEME QKRNDQDQET ITGLRVWRTN PGSVFDYDPA EDNIQSRSLH MINVQAQRRS REQSRSASAL SISGGEEKSE HSEAPDHHLS TYSDGGVFAV STAYKHAKTT ELPQQRSSSV ATQQTTVSSI PSHPSTAGKI FRAMYDYMAA DADEVSFKDG DAIINVQAID EGWMYGTVQR TGRTGMLPAN YVEAI* | ||||||||||||||||
| Mutated AA sequence | MADDEDYEEV VEYYTEEVVY EEVPGETITK IYETTTTRTS DYEQSETSKP ALAQPALAQP ASAKLVERRK VIRKKVDPSK FMTPYIAHSQ KMQDLFSPNK YKEKFEKTKG QPYASTTDTP ELRRIKKVQD QLSEVKYRMD GDVAKTICHV DEKAKDIEHA KKVSQQVSKV LYKQNWEDTK DKYLLPPDAP ELVQAVKNTA MFSKKLYTED WEADKSLFYP YNDSPELRRV AQAQKALSDV AYKKGLAEQQ AQFTPLADPP DIEFAKKVTN QVSKQKYKED YENKIKGKWS ETPCFEVANA RMNADNISTR KYQEDFENMK DQIYFMQTET PEYKMNKKAG VAASKVKYKE DYEKNKGKAD YNVLPASENP QLRQLKAAGD ALSDKLYKEN YEKTKAKSIN YCETPKFKLD TVLQNFSSDK KYKDSYLKDI LGHYVGSFED PYHSHCMKVT AQNSDKNYKA EYEEDRGKGF FPQTITQEYE AIKKLDQCKD HTYKVHPDKT KFTQVTDSPV LLQAQVNSKQ LSDLNYKAKH ESEKFKCHIP PDTPAFIQHK VNAYNLSDNL YKQDWEKSKA KKFDIKVDAI PLLAAKANTK NTSDVMYKKD YEKNKGKMIG VLSINDDPKM LHSLKVAKNQ SDRLYKENYE KTKAKSMNYC ETPKYQLDTQ LKNFSEARYK DLYVKDVLGH YVGSMEDPYH THCMKVAAQN SDKSYKAEYE EDKGKCYFPQ TITQEYEAIK KLDQCKDHTY KVHPDKTKFT AVTDSPVLLQ AQLNTKQLSD LNYKAKHEGE KFKCHIPADA PQFIQHRVNA YNLSDNVYKQ DWEKSKAKKF DIKVDAIPLL AAKANTKNTS DVMYKKDYEK SKGKMIGALS INDDPKMLHS LKTAKNQSDR EYRKDYEKSK TIYTAPLDML QVTQAKKSQA IASDVDYKHI LHSYSYPPDS INVDLAKKAY ALQSDVEYKA DYNSWMKGCG WVPFGSLEME KAKRASDILN EKKYRQHPDT LKFTSIEDAP ITVQSKINQA QRSDIAYKAK GEEIIHKYNL PPDLPQFIQA KVNAYNISEN MYKADLKDLS KKGYDLRTDA IPIRAAKAAR QAASDVQYKK DYEKAKGKMV GFQSLQDDPK LVHYMNVAKI QSDREYKKDY EKTKSKYNTP HDMFNVVAAK KAQDVVSNVN YKHSLHHYTY LPDAMDLELS KNMMQIQSDN VYKEDYNNWM KGIGWIPIGS LDVEKVKKAG DALNEKKYRQ HPDTLKFTSI VDSPVMVQAK QNTKQVSDIL YKAKGEDVKH KYTMSPDLPQ FLQAKCNAYN ISDVCYKRDW YDLIAKGNNV LGDAIPITAA KASRNIASDY KYKEAYEKSK GKHVGFRSLQ DDPKLVHYMN VAKLQSDREY KKNYENTKTS YHTPGDMVSI TAAKMAQDVA TNVNYKQPLH HYTYLPDAMS LEHTRNVNQI QSDNVYKDEY NSFLKGIGWI PIGSLEVEKV KKAGDALNER KYRQHPDTVK FTSVPDSMGM VLAQHNTKQL SDLNYKVEGE KLKHKYTIDP ELPQFIQAKV NALNMSDAHY KADWKKTIAK GYDLRPDAIP IVAAKSSRNI ASDCKYKEAY EKAKGKQVGF LSLQDDPKLV HYMNVAKIQS DREYKKGYEA SKTKYHTPLD MVSVTAAKKS QEVATNANYR QSYHHYTLLP DALNVEHSRN AMQIQSDNLY KSDFTNWMKG IGWVPIESLE VEKAKKAGEI LSEKKYRQHP EKLKFTYAMD TMEQALNKSN KLNMDKRLYT EKWNKDKTTI HVMPDTPDIL LSRVNQITMS DKLYKAGWEE EKKKGYDLRP DAIAIKAARA SRDIASDYKY KKAYEQAKGK HIGFRSLEDD PKLVHFMQVA KMQSDREYKK GYEKSKTSFH TPVDMLSVVA AKKSQEVATN ANYRNVIHTY NMLPDAMSFE LAKNMMQIQS DNQYKADYAD FMKGIGWLPL GSLEAEKNKK AMEIISEKKY RQHPDTLKYS TLMDSMNMVL AQNNAKIMNE HLYKQAWEAD KTKVHIMPDI PQIILAKANA INMSDKLYKL SLEESKKKGY DLRPDAIPIK AAKASRDIAS DYKYKYNYEK GKGKMVGFRS LEDDPKLVHS MQVAKMQSDR EYKKNYENTK TSYHTPADML SVTAAKDAQA NITNTNYKHL IHKYILLPDA MNIELTRNMN RIQSDNEYKQ DYNEWYKGLG WSPAGSLEVE KAKKATEYAS DQKYRQHPSN FQFKKLTDSM DMVLAKQNAH TMNKHLYTID WNKDKTKIHV MPDTPDILQA KQNQTLYSQK LYKLGWEEAL KKGYDLPVDA ISVQLAKASR DIASDYKYKQ GYRKQLGHHV GFRSLQDDPK LVLSMNVAKM QSEREYKKDF EKWKTKFSSP VDMLGVVLAK KCQELVSDVD YKNYLHQWTC LPDQNDVVQA KKVYELQSEN LYKSDLEWLR GIGWSPLGSL EAEKNKRASE IISEKKYRQP PDRNKFTSIP DAMDIVLAKT NAKNRSDRLY REAWDKDKTQ IHIMPDTPDI VLAKANLINT SDKLYRMGYE ELKRKGYDLP VDAIPIKAAK ASREIASEYK YKEGFRKQLG HHIGARNIED DPKMMWSMHV AKIQSDREYK KDFEKWKTKF SSPVDMLGVV LAKKCQTLVS DVDYKNYLHQ WTCLPDQSDV IHARQAYDLQ SDNLYKSDLQ WLKGIGWMTS GSLEDEKNKR ATQILSDHVY RQHPDQFKFS SLMDSIPMVL AKNNAITMNH RLYTEAWDKD KTTVHIMPDT PEVLLAKQNK VNYSEKLYKL GLEEAKRKGY DMRVDAIPIK AAKASRDIAS EFKYKEGYRK QLGHHIGARA IRDDPKMMWS MHVAKIQSDR EYKKDFEKWK TKFSSPVDML GVVLAKKCQT LVSDVDYKNY LHQWTCLPDQ SDVIHARQAY DLQSDNMYKS DLQWMRGIGW VSIGSLDVEK CKRATEILSD KIYRQPPDRF KFTSVTDSLE QVLAKNNAIT MNKRLYTEAW DKDKTQIHIM PDTPEIMLAR MNKINYSESL YKLANEEAKK KGYDLRSDAI PIVAAKASRD IISDYKYKDG YCKQLGHHIG ARNIEDDPKM MWSMHVAKIQ SDREYKKDFE KWKTKFSSPV DMLGVVLAKK CQTLVSDVDY KNYLHEWTCL PDQSDVIHAR QAYDLQSDNI YKSDLQWLRG IGWVPIGSMD VVKCKRATEI LSDNIYRQPP DKLKFTSVTD SLEQVLAKNN ALNMNKRLYT EAWDKDKTQI HIMPDTPEIM LARQNKINYS ETLYKLANEE AKKKGYDLRS DAIPIVAAKA SRDVISDYKY KDGYRKQLGH HIGARNIEDD PKMMWSMHVA KIQSDREYKK DFEKWKTKFS SPVDMLGVVL AKKCQTLVSD VDYKNYLHEW TCLPDQNDVI HARQAYDLQS DNIYKSDLQW LRGIGWVPIG SMDVVKCKRA AEILSDNIYR QPPDKLKFTS VTDSLEQVLA KNNALNMNKR LYTEAWDKDK TQVHIMPDTP EIMLARQNKI NYSESLYRQA MEEAKKEGYD LRSDAIPIVA AKASRDIASD YKYKEAYRKQ LGHHIGARAV HDDPKIMWSL HIAKVQSDRE YKKDFEKYKT RYSSPVDMLG IVLAKKCQTL VSDVDYKHPL HEWICLPDQN DIIHARKAYD LQSDNLYKSD LEWMKGIGWV PIDSLEVVRA KRAGELLSDT IYRQRPETLK FTSITDTPEQ VLAKNNALNM NKRLYTEAWD NDKKTIHVMP DTPEIMLAKL NRINYSDKLY KLALEESKKE GYDLRLDAIP IQAAKASRDI ASDYKYKEGY RKQLGHHIGA RNIKDDPKMM WSIHVAKIQS DREYKKEFEK WKTKFSSPVD MLGVVLAKKC QILVSDIDYK HPLHEWTCLP DQNDVIQARK AYDLQSDAIY KSDLEWLRGI GWVPIGSVEV EKVKRAGEIL SDRKYRQPAD QLKFTCITDT PEIVLAKNNA LTMSKHLYTE AWDADKTSIH VMPDTPDILL AKSNSANISQ KLYTKGWDES KMKDYDLRAD AISIKSAKAS RDIASDYKYK EAYEKQKGHH IGAQSIEDDP KIMCAIHAGK IQSEREYKKE FQKWKTKFSS PVDMLSILLA KKCQTLVTDI DYRNYLHEWT CMPDQNDIIQ AKKAYDLQSD SVYKADLEWL RGIGWMPEGS VEMNRVKVAQ DLVNERLYRT RPEALSFTSI VDTPEVVLAK ANSLQISEKL YQEAWNKDKS NITIPSDTPE MLQAHINALQ ISNKLYQKDW NDAKQKGYDI RADAIEIKHA KASREIASEY KYKEGYRKQL GHHMGFRTLQ DDPKSVWAIH AAKIQSDREY KKAYEKSKGI HNTPLDMMSI VQAKKCQVLV SDIDYRNYLH QWTCLPDQND VIQAKKAYDL QSDNLYKSDL EWLKGIGWLP EGSVEVMRVK NAQNLLNERL YRIKPEALKF TSIVDTPEVI QAKINAVQIS EPLYRDAWEK EKANVNVPAD TPLMLQSKIN ALQISNKRYQ QAWEDVKMTG YDLRADAIGI QHAKASRDIA SDYLYKTAYE KQKGHYIGCR SAKEDPKLVW AANVLKMQND RLYKKAYNDH KAKISIPVDM VSISAAKEGQ ALASDVDYRH YLHHWSCFPD QNDVIQARKA YDLQSDSVYK ADLEWLRGIG WMPEGSVEMN RVKVAQDLVN ERLYRTRPEA LSFTSIVDTP EVVLAKANSL QISEKLYQEA WNKDKSNITI PSDTPEMLQA HINALQISNK LYQKDWNDTK QKGYDIRADA IEIKHAKASR EIASEYKYKE GYRKQLGHHM GFRTLQDDPK SVWAIHAAKI QSDREYKKAY EKSKGIHNTP LDMMSIVQAK KCQVLVSDID YRNYLHQWTC LPDQNDVIQA KKAYDLQSDN LYKSDLEWLK GIGWLPEGSV EVMRVKNAQN LLNERLYRIK PEALKFTSIV DTPEVIQAKI NAVQISEPLY RNAWEKEKAN VNVPADTPLM LQSKINALQI SNKRYQQAWE DVKMTGYDLR ADAIGIQHAK ASRDIASDYL YKTAYEKQKG HYIGCRSAKE DPKLVWAANV LKMQNDRLYK KAYNDHKAKI SIPVDMVSIS AAKEGQALAS DVDYRHYLHH WSCFPDQNDV IQARKAYDLQ SDSVYKADLE WLRGIGWMPE GSVEMNRVKV AQDLVNERLY RTRPEALSFT SIVDTPEVVL AKANSLQISE KLYQEAWNKD KSNITIPSDT PEMLQAHINA LQISNKLYQK DWNDTKQKGY DIRADAIEIK HAKASREIAS EYKYKEGYRK QLGHHMGFRT LQDDPKSVWA IHAAKIQSDR EYKKAYEKSK GIHNTPLDMM SIVQAKKCQV LVSDIDYRNY LHQWTCLPDQ NDVIQAKKAY DLQSDNLYKS DLEWLKGIGW LPEGSVEVMR VKNAQNLLNE RLYRIKPEAL KFTSIVDTPE VIQAKINAVQ ISEPLYRDAW EKEKANVNVP ADTPLMLQSK INALQISNKR YQQAWEDVKM TGYDLRADAI GIQHAKASRD IASDYLYKTA YEKQKGHYIG CRSAKEDPKL VWAANVLKMQ NDRLYKKAYN DHKAKISIPV DMVSISAAKE GQALASDVDY RHYLHRWSCF PDQNDVIQAR KAYDLQSDAL YKADLEWLRG IGWMPQGSPE VLRVKNAQNI FCDSVYRTPV VNLKYTSIVD TPEVVLAKSN AENISIPKYR EVWDKDKTSI HIMPDTPEIN LARANALNVS NKLYREGWDE MKAGCDVRLD AIPIQAAKAS REIASDYKYK LDHEKQKGHY VGTLTARDDN KIRWALIADK LQNEREYRLD WAKWKAKIQS PVDMLSILHS KNSQALVSDM DYRNYLHQWT CMPDQNDVIQ AKKAYELQSD NVYKADLEWL RGIGWMPNDS VSVNHAKHAA DIFSEKKYRT KIETLNFTPV DDRVDYVTAK QSGEILDDIK YRKDWNATKS KYTLTETPLL HTAQEAARIL DQYLYKEGWE RQKATGYILP PDAVPFVHAH HCNDVQSELK YKAEHVKQKG HYVGVPTMRD DPKLVWFEHA GQIQNERLYK EDYHKTKAKI NIPADMVSVL AAKQGQTLVS DIDYRNYLHQ WMCHPDQNDV IQARKAYDLQ SDNVYRADLE WLRGIGWIPL DSVDHVRVTK NQEMMSQIKY KKNALENYPN FRSVVDPPEI VLAKINSVNQ SDVKYKETFN KAKGKYTFSP DTPHISHSKD MGKLYSTILY KGAWEGTKAY GYTLDERYIP IVGAKHADLV NSELKYKETY EKQKGHYLAG KVIGEFPGVV HCLDFQKMRS ALNYRKHYED TKANVHIPND MMNHVLAKRC QYILSDLEYR HYFHQWTSLL EEPNVIRVRN AQEILSDNVY KDDLNWLKGI GCYVWDTPQI LHAKKSYDLQ SQLQYTAAGK ENLQNYNLVT DTPLYVTAVQ SGINASEVKY KENYHQIKDK YTTVLETVDY DRTRNLKNLY SSNLYKEAWD RVKATSYILP SSTLSLTHAK NQKHLASHIK YREEYEKFKA LYTLPRSVDD DPNTARCLRV GKLNIDRLYR SVYEKNKMKI HIVPDMVEMV TAKDSQKKVS EIDYRLRLHE WICHPDLQVN DHVRKVTDQI SDIVYKDDLN WLKGIGCYVW DTPEILHAKH AYDLRDDIKY KAHMLKTRND YKLVTDTPVY VQAVKSGKQL SDAVYHYDYV HSVRGKVAPT TKTVDLDRAL HAYKLQSSNL YKTSLRTLPT GYRLPGDTPH FKHIKDTRYM SSYFKYKEAY EHTKAYGYTL GPKDVPFVHV RRVNNVTSER LYRELYHKLK DKIHTTPDTP EIRQVKKTQE AVSELIYKSD FFKMQGHMIS LPYTPQVIHC RYVGDITSDI KYKEDLQVLK GFGCFLYDTP DMVRSRHLRK LWSNYLYTDK ARKMRDKYKV VLDTPEYRKV QELKTHLSEL VYRAAGKKQK SIFTSVPDTP DLLRAKRGQK LQSQYLYVEL ATKERPHHHA GNQTTALKHA KDVKDMVSEK KYKIQYEKMK DKYTPVPDTP ILIRAKRAYW NASDLRYKET FQKTKGKYHT VKDALDIVYH RKVTDDISKI KYKENYMSQL GIWRSIPDRP EHFHHRAVTD TVSDVKYKED LTWLKGIGCY AYDTPDFTLA EKNKTLYSKY KYKEVFERTK SDFKYVADSP INRHFKYATQ LMNEKKYRAD YEQRKDKYHL VVDEPRHLLA KTAGDQISQI KYRKNYEKSK DKFTSIVDTP EHLRTTKVNK QISDILYKLE YNKAKPRGYT TIHDTPMLLH VRKVKDEVSD LKYKEVYQRN KSNCTIEPDA VHIKAAKDAY KVNTNLDYKK QYEANKAHWK WTPDRPDFLQ AAKSSLQQSD FEYKLDREFL KGCKLSVTDD KNTVLALRNT LIESDLKYKE KHVKERGTCH AVPDTPQILL AKTVSNLVSE NKYKDHVKKH LAQGSYTTLP ETRDTVHVKE VTKHVSDTNY KKKFVKEKGK SNYSIMLEPP EVKHAMEVAK KQSDVAYRKD AKENLHYTTV ADRPDIKKAT QAAKQASEVE YRAKHRKEGS HGLSMLGRPD IEMAKKAAKL SSQVKYRENF DKEKGKTPKY NPKDSQLYKV MKDANNLASE VKYKADLKKL HKPVTDMKES LIMNHVLNTS QLASSYQYKK KYEKSKGHYH TIPDNLEQLH LKEATELQSI VKYKEKYEKE RGKPMLDFET PTYITAKESQ QMQSGKEYRK DYEESIKGRN LTGLEVTPAL LHVKYATKIA SEKEYRKDLE ESIRGKGLTE MEDTPDMLRA KNATQILNEK EYKRDLELEV KGRGLNAMAN ETPDFMRARN ATDIASQIKY KQSAEMEKAN FTSVVDTPEI IHAQQVKNLS SQKKYKEDAE KSMSYYETVL DTPEIQRVRE NQKNFSLLQY QCDLKNSKGK ITVVQDTPEI LRVKENQKNF SSVLYKEDVS PGTAIGKTPE MMRVKQTQDH ISSVKYKEAI GQGTPIPDLP EVKRVKETQK HISSVMYKEN LGTGIPTTVT PEIERVKRNQ ENFSSVLYKE NLGKGIPTPI TPEMERVKRN QENFSSILYK ENLSKGTPLP VTPEMERVKL NQENFSSVLY KENVGKGIPI PITPEMERVK HNQENFSSVL YKENLGTGIP IPITPEMQRV KHNQENLSSV LYKENMGKGT PLPVTPEMER VKHNQENISS VLYKENMGKG TPLPVTPEME RVKHNQENIS SVLYKENMGK GTPLAVTPEM ERVKHNQENI SSVLYKENVG KATATPVTPE MQRVKRNQEN ISSVLYKENL GKATPTPFTP EMERVKRNQE NFSSVLYKEN MRKATPTPVT PEMERAKRNQ ENISSVLYSD SFRKQIQGKA AYVLDTPEMR RVRETQRHIS TVKYHEDFEK HKGCFTPVVT DPITERVKKN MQDFSDINYR GIQRKVVEME QKRNDQDQET ITGLRVWRTN PGSVFDYDPA EDNIQSRSLH MINVQAQRRS REQSRSASAL SISGGEEKSE HSEAPDHHLS TYSDGGVFAV STAYKHAKTT ELPQQRSSSV ATQQTTVSSI PSHPSTAGKI FRAMYDYMAA DADEVSFKDG DAIINVQAID EGWMYGTVQR TGRTGMLPAN YVEAI* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 25578 / 25578 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 8526 / 8526 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 25770 / 25770 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 193 / 193 | ||||||||||||||||
| Last intron/exon boundary | 25596 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 25353 | ||||||||||||||||
| Length of CDS | 25578 | ||||||||||||||||
| Coding sequence (CDS) position | 194 | ||||||||||||||||
| cDNA position | 386 | ||||||||||||||||
| gDNA position | 6697 | ||||||||||||||||
| Chromosomal position | 151727791 | ||||||||||||||||
| Speed | 0.14 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr2:151727791G>A (GRCh38) | ||||||||||||||||
| Gene symbol | NEB | ||||||||||||||||
| Gene constraints | LOEUF: 0.62, LOF (oe): 0.57, misssense (oe): 0.94, synonymous (oe): 0.95 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000409198.5 | ||||||||||||||||
| Genbank transcript ID | NM_004543 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | NEBU_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.194C>T g.6697C>T | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 2 | ||||||||||||||||
| Strand | -1 | ||||||||||||||||
| Original gDNA sequence snippet | ACAGCCAGCATCAGCAAAGCCGGTGGAGAGGAGGAAGGTCA | ||||||||||||||||
| Altered gDNA sequence snippet | ACAGCCAGCATCAGCAAAGCTGGTGGAGAGGAGGAAGGTCA | ||||||||||||||||
| Original cDNA sequence snippet | ACAGCCAGCATCAGCAAAGCCGGTGGAGAGGAGGAAGGTCA | ||||||||||||||||
| Altered cDNA sequence snippet | ACAGCCAGCATCAGCAAAGCTGGTGGAGAGGAGGAAGGTCA | ||||||||||||||||
| Wildtype AA sequence | MADDEDYEEV VEYYTEEVVY EEVPGETITK IYETTTTRTS DYEQSETSKP ALAQPALAQP ASAKPVERRK VIRKKVDPSK FMTPYIAHSQ KMQDLFSPNK YKEKFEKTKG QPYASTTDTP ELRRIKKVQD QLSEVKYRMD GDVAKTICHV DEKAKDIEHA KKVSQQVSKV LYKQNWEDTK DKYLLPPDAP ELVQAVKNTA MFSKKLYTED WEADKSLFYP YNDSPELRRV AQAQKALSDV AYKKGLAEQQ AQFTPLADPP DIEFAKKVTN QVSKQKYKED YENKIKGKWS ETPCFEVANA RMNADNISTR KYQEDFENMK DQIYFMQTET PEYKMNKKAG VAASKVKYKE DYEKNKGKAD YNVLPASENP QLRQLKAAGD ALSDKLYKEN YEKTKAKSIN YCETPKFKLD TVLQNFSSDK KYKDSYLKDI LGHYVGSFED PYHSHCMKVT AQNSDKNYKA EYEEDRGKGF FPQTITQEYE AIKKLDQCKD HTYKVHPDKT KFTQVTDSPV LLQAQVNSKQ LSDLNYKAKH ESEKFKCHIP PDTPAFIQHK VNAYNLSDNL YKQDWEKSKA KKFDIKVDAI PLLAAKANTK NTSDVMYKKD YEKNKGKMIG VLSINDDPKM LHSLKVAKNQ SDRLYKENYE KTKAKSMNYC ETPKYQLDTQ LKNFSEARYK DLYVKDVLGH YVGSMEDPYH THCMKVAAQN SDKSYKAEYE EDKGKCYFPQ TITQEYEAIK KLDQCKDHTY KVHPDKTKFT AVTDSPVLLQ AQLNTKQLSD LNYKAKHEGE KFKCHIPADA PQFIQHRVNA YNLSDNVYKQ DWEKSKAKKF DIKVDAIPLL AAKANTKNTS DVMYKKDYEK SKGKMIGALS INDDPKMLHS LKTAKNQSDR EYRKDYEKSK TIYTAPLDML QVTQAKKSQA IASDVDYKHI LHSYSYPPDS INVDLAKKAY ALQSDVEYKA DYNSWMKGCG WVPFGSLEME KAKRASDILN EKKYRQHPDT LKFTSIEDAP ITVQSKINQA QRSDIAYKAK GEEIIHKYNL PPDLPQFIQA KVNAYNISEN MYKADLKDLS KKGYDLRTDA IPIRAAKAAR QAASDVQYKK DYEKAKGKMV GFQSLQDDPK LVHYMNVAKI QSDREYKKDY EKTKSKYNTP HDMFNVVAAK KAQDVVSNVN YKHSLHHYTY LPDAMDLELS KNMMQIQSDN VYKEDYNNWM KGIGWIPIGS LDVEKVKKAG DALNEKKYRQ HPDTLKFTSI VDSPVMVQAK QNTKQVSDIL YKAKGEDVKH KYTMSPDLPQ FLQAKCNAYN ISDVCYKRDW YDLIAKGNNV LGDAIPITAA KASRNIASDY KYKEAYEKSK GKHVGFRSLQ DDPKLVHYMN VAKLQSDREY KKNYENTKTS YHTPGDMVSI TAAKMAQDVA TNVNYKQPLH HYTYLPDAMS LEHTRNVNQI QSDNVYKDEY NSFLKGIGWI PIGSLEVEKV KKAGDALNER KYRQHPDTVK FTSVPDSMGM VLAQHNTKQL SDLNYKVEGE KLKHKYTIDP ELPQFIQAKV NALNMSDAHY KADWKKTIAK GYDLRPDAIP IVAAKSSRNI ASDCKYKEAY EKAKGKQVGF LSLQDDPKLV HYMNVAKIQS DREYKKGYEA SKTKYHTPLD MVSVTAAKKS QEVATNANYR QSYHHYTLLP DALNVEHSRN AMQIQSDNLY KSDFTNWMKG IGWVPIESLE VEKAKKAGEI LSEKKYRQHP EKLKFTYAMD TMEQALNKSN KLNMDKRLYT EKWNKDKTTI HVMPDTPDIL LSRVNQITMS DKLYKAGWEE EKKKGYDLRP DAIAIKAARA SRDIASDYKY KKAYEQAKGK HIGFRSLEDD PKLVHFMQVA KMQSDREYKK GYEKSKTSFH TPVDMLSVVA AKKSQEVATN ANYRNVIHTY NMLPDAMSFE LAKNMMQIQS DNQYKADYAD FMKGIGWLPL GSLEAEKNKK AMEIISEKKY RQHPDTLKYS TLMDSMNMVL AQNNAKIMNE HLYKQAWEAD KTKVHIMPDI PQIILAKANA INMSDKLYKL SLEESKKKGY DLRPDAIPIK AAKASRDIAS DYKYKYNYEK GKGKMVGFRS LEDDPKLVHS MQVAKMQSDR EYKKNYENTK TSYHTPADML SVTAAKDAQA NITNTNYKHL IHKYILLPDA MNIELTRNMN RIQSDNEYKQ DYNEWYKGLG WSPAGSLEVE KAKKATEYAS DQKYRQHPSN FQFKKLTDSM DMVLAKQNAH TMNKHLYTID WNKDKTKIHV MPDTPDILQA KQNQTLYSQK LYKLGWEEAL KKGYDLPVDA ISVQLAKASR DIASDYKYKQ GYRKQLGHHV GFRSLQDDPK LVLSMNVAKM QSEREYKKDF EKWKTKFSSP VDMLGVVLAK KCQELVSDVD YKNYLHQWTC LPDQNDVVQA KKVYELQSEN LYKSDLEWLR GIGWSPLGSL EAEKNKRASE IISEKKYRQP PDRNKFTSIP DAMDIVLAKT NAKNRSDRLY REAWDKDKTQ IHIMPDTPDI VLAKANLINT SDKLYRMGYE ELKRKGYDLP VDAIPIKAAK ASREIASEYK YKEGFRKQLG HHIGARNIED DPKMMWSMHV AKIQSDREYK KDFEKWKTKF SSPVDMLGVV LAKKCQTLVS DVDYKNYLHQ WTCLPDQSDV IHARQAYDLQ SDNLYKSDLQ WLKGIGWMTS GSLEDEKNKR ATQILSDHVY RQHPDQFKFS SLMDSIPMVL AKNNAITMNH RLYTEAWDKD KTTVHIMPDT PEVLLAKQNK VNYSEKLYKL GLEEAKRKGY DMRVDAIPIK AAKASRDIAS EFKYKEGYRK QLGHHIGARA IRDDPKMMWS MHVAKIQSDR EYKKDFEKWK TKFSSPVDML GVVLAKKCQT LVSDVDYKNY LHQWTCLPDQ SDVIHARQAY DLQSDNMYKS DLQWMRGIGW VSIGSLDVEK CKRATEILSD KIYRQPPDRF KFTSVTDSLE QVLAKNNALN MNKRLYTEAW DKDKTQIHIM PDTPEIMLAR QNKINYSETL YKLANEEAKK KGYDLRSDAI PIVAAKASRD VISDYKYKDG YRKQLGHHIG ARNIEDDPKM MWSMHVAKIQ SDREYKKDFE KWKTKFSSPV DMLGVVLAKK CQTLVSDVDY KNYLHEWTCL PDQNDVIHAR QAYDLQSDNI YKSDLQWLRG IGWVPIGSMD VVKCKRAAEI LSDNIYRQPP DKLKFTSVTD SLEQVLAKNN ALNMNKRLYT EAWDKDKTQV HIMPDTPEIM LARQNKINYS ESLYRQAMEE AKKEGYDLRS DAIPIVAAKA SRDIASDYKY KEAYRKQLGH HIGARAVHDD PKIMWSLHIA KVQSDREYKK DFEKYKTRYS SPVDMLGIVL AKKCQTLVSD VDYKHPLHEW ICLPDQNDII HARKAYDLQS DNLYKSDLEW MKGIGWVPID SLEVVRAKRA GELLSDTIYR QRPETLKFTS ITDTPEQVLA KNNALNMNKR LYTEAWDNDK KTIHVMPDTP EIMLAKLNRI NYSDKLYKLA LEESKKEGYD LRLDAIPIQA AKASRDIASD YKYKEGYRKQ LGHHIGARNI KDDPKMMWSI HVAKIQSDRE YKKEFEKWKT KFSSPVDMLG VVLAKKCQIL VSDIDYKHPL HEWTCLPDQN DVIQARKAYD LQSDAIYKSD LEWLRGIGWV PIGSVEVEKV KRAGEILSDR KYRQPADQLK FTCITDTPEI VLAKNNALTM SKHLYTEAWD ADKTSIHVMP DTPDILLAKS NSANISQKLY TKGWDESKMK DYDLRADAIS IKSAKASRDI ASDYKYKEAY EKQKGHHIGA QSIEDDPKIM CAIHAGKIQS EREYKKEFQK WKTKFSSPVD MLSILLAKKC QTLVTDIDYR NYLHEWTCMP DQNDIIQAKK AYDLQSDALY KADLEWLRGI GWMPQGSPEV LRVKNAQNIF CDSVYRTPVV NLKYTSIVDT PEVVLAKSNA ENISIPKYRE VWDKDKTSIH IMPDTPEINL ARANALNVSN KLYREGWDEM KAGCDVRLDA IPIQAAKASR EIASDYKYKL DHEKQKGHYV GTLTARDDNK IRWALIADKL QNEREYRLDW AKWKAKIQSP VDMLSILHSK NSQALVSDMD YRNYLHQWTC MPDQNDVIQA KKAYELQSDN VYKADLEWLR GIGWMPNDSV SVNHAKHAAD IFSEKKYRTK IETLNFTPVD DRVDYVTAKQ SGEILDDIKY RKDWNATKSK YTLTETPLLH TAQEAARILD QYLYKEGWER QKATGYILPP DAVPFVHAHH CNDVQSELKY KAEHVKQKGH YVGVPTMRDD PKLVWFEHAG QIQNERLYKE DYHKTKAKIN IPADMVSVLA AKQGQTLVSD IDYRNYLHQW MCHPDQNDVI QARKAYDLQS DNVYRADLEW LRGIGWIPLD SVDHVRVTKN QEMMSQIKYK KNALENYPNF RSVVDPPEIV LAKINSVNQS DVKYKETFNK AKGKYTFSPD TPHISHSKDM GKLYSTILYK GAWEGTKAYG YTLDERYIPI VGAKHADLVN SELKYKETYE KQKGHYLAGK VIGEFPGVVH CLDFQKMRSA LNYRKHYEDT KANVHIPNDM MNHVLAKRCQ YILSDLEYRH YFHQWTSLLE EPNVIRVRNA QEILSDNVYK DDLNWLKGIG CYVWDTPQIL HAKKSYDLQS QLQYTAAGKE NLQNYNLVTD TPLYVTAVQS GINASEVKYK ENYHQIKDKY TTVLETVDYD RTRNLKNLYS SNLYKEAWDR VKATSYILPS STLSLTHAKN QKHLASHIKY REEYEKFKAL YTLPRSVDDD PNTARCLRVG KLNIDRLYRS VYEKNKMKIH IVPDMVEMVT AKDSQKKVSE IDYRLRLHEW ICHPDLQVND HVRKVTDQIS DIVYKDDLNW LKGIGCYVWD TPEILHAKHA YDLRDDIKYK AHMLKTRNDY KLVTDTPVYV QAVKSGKQLS DAVYHYDYVH SVRGKVAPTT KTVDLDRALH AYKLQSSNLY KTSLRTLPTG YRLPGDTPHF KHIKDTRYMS SYFKYKEAYE HTKAYGYTLG PKDVPFVHVR RVNNVTSERL YRELYHKLKD KIHTTPDTPE IRQVKKTQEA VSELIYKSDF FKMQGHMISL PYTPQVIHCR YVGDITSDIK YKEDLQVLKG FGCFLYDTPD MVRSRHLRKL WSNYLYTDKA RKMRDKYKVV LDTPEYRKVQ ELKTHLSELV YRAAGKKQKS IFTSVPDTPD LLRAKRGQKL QSQYLYVELA TKERPHHHAG NQTTALKHAK DVKDMVSEKK YKIQYEKMKD KYTPVPDTPI LIRAKRAYWN ASDLRYKETF QKTKGKYHTV KDALDIVYHR KVTDDISKIK YKENYMSQLG IWRSIPDRPE HFHHRAVTDT VSDVKYKEDL TWLKGIGCYA YDTPDFTLAE KNKTLYSKYK YKEVFERTKS DFKYVADSPI NRHFKYATQL MNEKKYRADY EQRKDKYHLV VDEPRHLLAK TAGDQISQIK YRKNYEKSKD KFTSIVDTPE HLRTTKVNKQ ISDILYKLEY NKAKPRGYTT IHDTPMLLHV RKVKDEVSDL KYKEVYQRNK SNCTIEPDAV HIKAAKDAYK VNTNLDYKKQ YEANKAHWKW TPDRPDFLQA AKSSLQQSDF EYKLDREFLK GCKLSVTDDK NTVLALRNTL IESDLKYKEK HVKERGTCHA VPDTPQILLA KTVSNLVSEN KYKDHVKKHL AQGSYTTLPE TRDTVHVKEV TKHVSDTNYK KKFVKEKGKS NYSIMLEPPE VKHAMEVAKK QSDVAYRKDA KENLHYTTVA DRPDIKKATQ AAKQASEVEY RAKHRKEGSH GLSMLGRPDI EMAKKAAKLS SQVKYRENFD KEKGKTPKYN PKDSQLYKVM KDANNLASEV KYKADLKKLH KPVTDMKESL IMNHVLNTSQ LASSYQYKKK YEKSKGHYHT IPDNLEQLHL KEATELQSIV KYKEKYEKER GKPMLDFETP TYITAKESQQ MQSGKEYRKD YEESIKGRNL TGLEVTPALL HVKYATKIAS EKEYRKDLEE SIRGKGLTEM EDTPDMLRAK NATQILNEKE YKRDLELEVK GRGLNAMANE TPDFMRARNA TDIASQIKYK QSAEMEKANF TSVVDTPEII HAQQVKNLSS QKKYKEDAEK SMSYYETVLD TPEIQRVREN QKNFSLLQYQ CDLKNSKGKI TVVQDTPEIL RVKENQKNFS SVLYKEDVSP GTAIGKTPEM MRVKQTQDHI SSVKYKEAIG QGTPIPDLPE VKRVKETQKH ISSVMYKENL GTGIPTTVTP EIERVKRNQE NFSSVLYKEN LGKGIPTPIT PEMERVKRNQ ENFSSVLYKE NMGKGTPLAV TPEMERVKHN QENISSVLYK ENVGKATATP VTPEMQRVKR NQENISSVLY KENLGKATPT PFTPEMERVK RNQENFSSVL YKENMRKATP TPVTPEMERA KRNQENISSV LYSDSFRKQI QGKAAYVLDT PEMRRVRETQ RHISTVKYHE DFEKHKGCFT PVVTDPITER VKKNMQDFSD INYRGIQRKV VEMEQKRNDQ DQETITGLRV WRTNPGSVFD YDPAEDNIQS RSLHMINVQA QRRSREQSRS ASALSISGGE EKSEHSEAPD HHLSTYSDGG VFAVSTAYKH AKTTELPQQR SSSVATQQTT VSSIPSHPST AGKIFRAMYD YMAADADEVS FKDGDAIINV QAIDEGWMYG TVQRTGRTGM LPANYVEAI* | ||||||||||||||||
| Mutated AA sequence | MADDEDYEEV VEYYTEEVVY EEVPGETITK IYETTTTRTS DYEQSETSKP ALAQPALAQP ASAKLVERRK VIRKKVDPSK FMTPYIAHSQ KMQDLFSPNK YKEKFEKTKG QPYASTTDTP ELRRIKKVQD QLSEVKYRMD GDVAKTICHV DEKAKDIEHA KKVSQQVSKV LYKQNWEDTK DKYLLPPDAP ELVQAVKNTA MFSKKLYTED WEADKSLFYP YNDSPELRRV AQAQKALSDV AYKKGLAEQQ AQFTPLADPP DIEFAKKVTN QVSKQKYKED YENKIKGKWS ETPCFEVANA RMNADNISTR KYQEDFENMK DQIYFMQTET PEYKMNKKAG VAASKVKYKE DYEKNKGKAD YNVLPASENP QLRQLKAAGD ALSDKLYKEN YEKTKAKSIN YCETPKFKLD TVLQNFSSDK KYKDSYLKDI LGHYVGSFED PYHSHCMKVT AQNSDKNYKA EYEEDRGKGF FPQTITQEYE AIKKLDQCKD HTYKVHPDKT KFTQVTDSPV LLQAQVNSKQ LSDLNYKAKH ESEKFKCHIP PDTPAFIQHK VNAYNLSDNL YKQDWEKSKA KKFDIKVDAI PLLAAKANTK NTSDVMYKKD YEKNKGKMIG VLSINDDPKM LHSLKVAKNQ SDRLYKENYE KTKAKSMNYC ETPKYQLDTQ LKNFSEARYK DLYVKDVLGH YVGSMEDPYH THCMKVAAQN SDKSYKAEYE EDKGKCYFPQ TITQEYEAIK KLDQCKDHTY KVHPDKTKFT AVTDSPVLLQ AQLNTKQLSD LNYKAKHEGE KFKCHIPADA PQFIQHRVNA YNLSDNVYKQ DWEKSKAKKF DIKVDAIPLL AAKANTKNTS DVMYKKDYEK SKGKMIGALS INDDPKMLHS LKTAKNQSDR EYRKDYEKSK TIYTAPLDML QVTQAKKSQA IASDVDYKHI LHSYSYPPDS INVDLAKKAY ALQSDVEYKA DYNSWMKGCG WVPFGSLEME KAKRASDILN EKKYRQHPDT LKFTSIEDAP ITVQSKINQA QRSDIAYKAK GEEIIHKYNL PPDLPQFIQA KVNAYNISEN MYKADLKDLS KKGYDLRTDA IPIRAAKAAR QAASDVQYKK DYEKAKGKMV GFQSLQDDPK LVHYMNVAKI QSDREYKKDY EKTKSKYNTP HDMFNVVAAK KAQDVVSNVN YKHSLHHYTY LPDAMDLELS KNMMQIQSDN VYKEDYNNWM KGIGWIPIGS LDVEKVKKAG DALNEKKYRQ HPDTLKFTSI VDSPVMVQAK QNTKQVSDIL YKAKGEDVKH KYTMSPDLPQ FLQAKCNAYN ISDVCYKRDW YDLIAKGNNV LGDAIPITAA KASRNIASDY KYKEAYEKSK GKHVGFRSLQ DDPKLVHYMN VAKLQSDREY KKNYENTKTS YHTPGDMVSI TAAKMAQDVA TNVNYKQPLH HYTYLPDAMS LEHTRNVNQI QSDNVYKDEY NSFLKGIGWI PIGSLEVEKV KKAGDALNER KYRQHPDTVK FTSVPDSMGM VLAQHNTKQL SDLNYKVEGE KLKHKYTIDP ELPQFIQAKV NALNMSDAHY KADWKKTIAK GYDLRPDAIP IVAAKSSRNI ASDCKYKEAY EKAKGKQVGF LSLQDDPKLV HYMNVAKIQS DREYKKGYEA SKTKYHTPLD MVSVTAAKKS QEVATNANYR QSYHHYTLLP DALNVEHSRN AMQIQSDNLY KSDFTNWMKG IGWVPIESLE VEKAKKAGEI LSEKKYRQHP EKLKFTYAMD TMEQALNKSN KLNMDKRLYT EKWNKDKTTI HVMPDTPDIL LSRVNQITMS DKLYKAGWEE EKKKGYDLRP DAIAIKAARA SRDIASDYKY KKAYEQAKGK HIGFRSLEDD PKLVHFMQVA KMQSDREYKK GYEKSKTSFH TPVDMLSVVA AKKSQEVATN ANYRNVIHTY NMLPDAMSFE LAKNMMQIQS DNQYKADYAD FMKGIGWLPL GSLEAEKNKK AMEIISEKKY RQHPDTLKYS TLMDSMNMVL AQNNAKIMNE HLYKQAWEAD KTKVHIMPDI PQIILAKANA INMSDKLYKL SLEESKKKGY DLRPDAIPIK AAKASRDIAS DYKYKYNYEK GKGKMVGFRS LEDDPKLVHS MQVAKMQSDR EYKKNYENTK TSYHTPADML SVTAAKDAQA NITNTNYKHL IHKYILLPDA MNIELTRNMN RIQSDNEYKQ DYNEWYKGLG WSPAGSLEVE KAKKATEYAS DQKYRQHPSN FQFKKLTDSM DMVLAKQNAH TMNKHLYTID WNKDKTKIHV MPDTPDILQA KQNQTLYSQK LYKLGWEEAL KKGYDLPVDA ISVQLAKASR DIASDYKYKQ GYRKQLGHHV GFRSLQDDPK LVLSMNVAKM QSEREYKKDF EKWKTKFSSP VDMLGVVLAK KCQELVSDVD YKNYLHQWTC LPDQNDVVQA KKVYELQSEN LYKSDLEWLR GIGWSPLGSL EAEKNKRASE IISEKKYRQP PDRNKFTSIP DAMDIVLAKT NAKNRSDRLY REAWDKDKTQ IHIMPDTPDI VLAKANLINT SDKLYRMGYE ELKRKGYDLP VDAIPIKAAK ASREIASEYK YKEGFRKQLG HHIGARNIED DPKMMWSMHV AKIQSDREYK KDFEKWKTKF SSPVDMLGVV LAKKCQTLVS DVDYKNYLHQ WTCLPDQSDV IHARQAYDLQ SDNLYKSDLQ WLKGIGWMTS GSLEDEKNKR ATQILSDHVY RQHPDQFKFS SLMDSIPMVL AKNNAITMNH RLYTEAWDKD KTTVHIMPDT PEVLLAKQNK VNYSEKLYKL GLEEAKRKGY DMRVDAIPIK AAKASRDIAS EFKYKEGYRK QLGHHIGARA IRDDPKMMWS MHVAKIQSDR EYKKDFEKWK TKFSSPVDML GVVLAKKCQT LVSDVDYKNY LHQWTCLPDQ SDVIHARQAY DLQSDNMYKS DLQWMRGIGW VSIGSLDVEK CKRATEILSD KIYRQPPDRF KFTSVTDSLE QVLAKNNALN MNKRLYTEAW DKDKTQIHIM PDTPEIMLAR QNKINYSETL YKLANEEAKK KGYDLRSDAI PIVAAKASRD VISDYKYKDG YRKQLGHHIG ARNIEDDPKM MWSMHVAKIQ SDREYKKDFE KWKTKFSSPV DMLGVVLAKK CQTLVSDVDY KNYLHEWTCL PDQNDVIHAR QAYDLQSDNI YKSDLQWLRG IGWVPIGSMD VVKCKRAAEI LSDNIYRQPP DKLKFTSVTD SLEQVLAKNN ALNMNKRLYT EAWDKDKTQV HIMPDTPEIM LARQNKINYS ESLYRQAMEE AKKEGYDLRS DAIPIVAAKA SRDIASDYKY KEAYRKQLGH HIGARAVHDD PKIMWSLHIA KVQSDREYKK DFEKYKTRYS SPVDMLGIVL AKKCQTLVSD VDYKHPLHEW ICLPDQNDII HARKAYDLQS DNLYKSDLEW MKGIGWVPID SLEVVRAKRA GELLSDTIYR QRPETLKFTS ITDTPEQVLA KNNALNMNKR LYTEAWDNDK KTIHVMPDTP EIMLAKLNRI NYSDKLYKLA LEESKKEGYD LRLDAIPIQA AKASRDIASD YKYKEGYRKQ LGHHIGARNI KDDPKMMWSI HVAKIQSDRE YKKEFEKWKT KFSSPVDMLG VVLAKKCQIL VSDIDYKHPL HEWTCLPDQN DVIQARKAYD LQSDAIYKSD LEWLRGIGWV PIGSVEVEKV KRAGEILSDR KYRQPADQLK FTCITDTPEI VLAKNNALTM SKHLYTEAWD ADKTSIHVMP DTPDILLAKS NSANISQKLY TKGWDESKMK DYDLRADAIS IKSAKASRDI ASDYKYKEAY EKQKGHHIGA QSIEDDPKIM CAIHAGKIQS EREYKKEFQK WKTKFSSPVD MLSILLAKKC QTLVTDIDYR NYLHEWTCMP DQNDIIQAKK AYDLQSDALY KADLEWLRGI GWMPQGSPEV LRVKNAQNIF CDSVYRTPVV NLKYTSIVDT PEVVLAKSNA ENISIPKYRE VWDKDKTSIH IMPDTPEINL ARANALNVSN KLYREGWDEM KAGCDVRLDA IPIQAAKASR EIASDYKYKL DHEKQKGHYV GTLTARDDNK IRWALIADKL QNEREYRLDW AKWKAKIQSP VDMLSILHSK NSQALVSDMD YRNYLHQWTC MPDQNDVIQA KKAYELQSDN VYKADLEWLR GIGWMPNDSV SVNHAKHAAD IFSEKKYRTK IETLNFTPVD DRVDYVTAKQ SGEILDDIKY RKDWNATKSK YTLTETPLLH TAQEAARILD QYLYKEGWER QKATGYILPP DAVPFVHAHH CNDVQSELKY KAEHVKQKGH YVGVPTMRDD PKLVWFEHAG QIQNERLYKE DYHKTKAKIN IPADMVSVLA AKQGQTLVSD IDYRNYLHQW MCHPDQNDVI QARKAYDLQS DNVYRADLEW LRGIGWIPLD SVDHVRVTKN QEMMSQIKYK KNALENYPNF RSVVDPPEIV LAKINSVNQS DVKYKETFNK AKGKYTFSPD TPHISHSKDM GKLYSTILYK GAWEGTKAYG YTLDERYIPI VGAKHADLVN SELKYKETYE KQKGHYLAGK VIGEFPGVVH CLDFQKMRSA LNYRKHYEDT KANVHIPNDM MNHVLAKRCQ YILSDLEYRH YFHQWTSLLE EPNVIRVRNA QEILSDNVYK DDLNWLKGIG CYVWDTPQIL HAKKSYDLQS QLQYTAAGKE NLQNYNLVTD TPLYVTAVQS GINASEVKYK ENYHQIKDKY TTVLETVDYD RTRNLKNLYS SNLYKEAWDR VKATSYILPS STLSLTHAKN QKHLASHIKY REEYEKFKAL YTLPRSVDDD PNTARCLRVG KLNIDRLYRS VYEKNKMKIH IVPDMVEMVT AKDSQKKVSE IDYRLRLHEW ICHPDLQVND HVRKVTDQIS DIVYKDDLNW LKGIGCYVWD TPEILHAKHA YDLRDDIKYK AHMLKTRNDY KLVTDTPVYV QAVKSGKQLS DAVYHYDYVH SVRGKVAPTT KTVDLDRALH AYKLQSSNLY KTSLRTLPTG YRLPGDTPHF KHIKDTRYMS SYFKYKEAYE HTKAYGYTLG PKDVPFVHVR RVNNVTSERL YRELYHKLKD KIHTTPDTPE IRQVKKTQEA VSELIYKSDF FKMQGHMISL PYTPQVIHCR YVGDITSDIK YKEDLQVLKG FGCFLYDTPD MVRSRHLRKL WSNYLYTDKA RKMRDKYKVV LDTPEYRKVQ ELKTHLSELV YRAAGKKQKS IFTSVPDTPD LLRAKRGQKL QSQYLYVELA TKERPHHHAG NQTTALKHAK DVKDMVSEKK YKIQYEKMKD KYTPVPDTPI LIRAKRAYWN ASDLRYKETF QKTKGKYHTV KDALDIVYHR KVTDDISKIK YKENYMSQLG IWRSIPDRPE HFHHRAVTDT VSDVKYKEDL TWLKGIGCYA YDTPDFTLAE KNKTLYSKYK YKEVFERTKS DFKYVADSPI NRHFKYATQL MNEKKYRADY EQRKDKYHLV VDEPRHLLAK TAGDQISQIK YRKNYEKSKD KFTSIVDTPE HLRTTKVNKQ ISDILYKLEY NKAKPRGYTT IHDTPMLLHV RKVKDEVSDL KYKEVYQRNK SNCTIEPDAV HIKAAKDAYK VNTNLDYKKQ YEANKAHWKW TPDRPDFLQA AKSSLQQSDF EYKLDREFLK GCKLSVTDDK NTVLALRNTL IESDLKYKEK HVKERGTCHA VPDTPQILLA KTVSNLVSEN KYKDHVKKHL AQGSYTTLPE TRDTVHVKEV TKHVSDTNYK KKFVKEKGKS NYSIMLEPPE VKHAMEVAKK QSDVAYRKDA KENLHYTTVA DRPDIKKATQ AAKQASEVEY RAKHRKEGSH GLSMLGRPDI EMAKKAAKLS SQVKYRENFD KEKGKTPKYN PKDSQLYKVM KDANNLASEV KYKADLKKLH KPVTDMKESL IMNHVLNTSQ LASSYQYKKK YEKSKGHYHT IPDNLEQLHL KEATELQSIV KYKEKYEKER GKPMLDFETP TYITAKESQQ MQSGKEYRKD YEESIKGRNL TGLEVTPALL HVKYATKIAS EKEYRKDLEE SIRGKGLTEM EDTPDMLRAK NATQILNEKE YKRDLELEVK GRGLNAMANE TPDFMRARNA TDIASQIKYK QSAEMEKANF TSVVDTPEII HAQQVKNLSS QKKYKEDAEK SMSYYETVLD TPEIQRVREN QKNFSLLQYQ CDLKNSKGKI TVVQDTPEIL RVKENQKNFS SVLYKEDVSP GTAIGKTPEM MRVKQTQDHI SSVKYKEAIG QGTPIPDLPE VKRVKETQKH ISSVMYKENL GTGIPTTVTP EIERVKRNQE NFSSVLYKEN LGKGIPTPIT PEMERVKRNQ ENFSSVLYKE NMGKGTPLAV TPEMERVKHN QENISSVLYK ENVGKATATP VTPEMQRVKR NQENISSVLY KENLGKATPT PFTPEMERVK RNQENFSSVL YKENMRKATP TPVTPEMERA KRNQENISSV LYSDSFRKQI QGKAAYVLDT PEMRRVRETQ RHISTVKYHE DFEKHKGCFT PVVTDPITER VKKNMQDFSD INYRGIQRKV VEMEQKRNDQ DQETITGLRV WRTNPGSVFD YDPAEDNIQS RSLHMINVQA QRRSREQSRS ASALSISGGE EKSEHSEAPD HHLSTYSDGG VFAVSTAYKH AKTTELPQQR SSSVATQQTT VSSIPSHPST AGKIFRAMYD YMAADADEVS FKDGDAIINV QAIDEGWMYG TVQRTGRTGM LPANYVEAI* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 20010 / 20010 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 6670 / 6670 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 20213 / 20213 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 204 / 204 | ||||||||||||||||
| Last intron/exon boundary | 20039 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 19785 | ||||||||||||||||
| Length of CDS | 20010 | ||||||||||||||||
| Coding sequence (CDS) position | 194 | ||||||||||||||||
| cDNA position | 397 | ||||||||||||||||
| gDNA position | 6697 | ||||||||||||||||
| Chromosomal position | 151727791 | ||||||||||||||||
| Speed | 0.10 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project