| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATRX | Deleterious | 54|46 | simple_ | No | Deletion | Deletion of 1 or 2 AA |
| ||||||
ENST00000373344(MANE Select) | ATRX | Benign | 39|61 | simple_ | No | Deletion | Deletion of 1 or 2 AA |
|
| Analysed issue | Analysis result | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:77652334_77652336delTCT (GRCh38) | |||||||||||||||||||||
| Gene symbol | ATRX | |||||||||||||||||||||
| Gene constraints | no data | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000395603.7 | |||||||||||||||||||||
| Genbank transcript ID | NM_138270 (by similarity) | |||||||||||||||||||||
| UniProt / AlphaMissense peptide | ATRX_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Deletion | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.4221_4223delAGA g.133898_133900delAGA | |||||||||||||||||||||
| AA changes | deletion of 1 or 2 AA
| |||||||||||||||||||||
| Frameshift | No | |||||||||||||||||||||
| Length of protein | Deletion of 1 or 2 AA | |||||||||||||||||||||
| 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 | 18 | |||||||||||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||||||||||
| poly(A) signal | N/A | |||||||||||||||||||||
| AA sequence altered | Yes | |||||||||||||||||||||
| Chromosome | 23 | |||||||||||||||||||||
| Strand | -1 | |||||||||||||||||||||
| Original gDNA sequence snippet | TAGAGTAATTCTGAGGAAGAAGAGGAGGAAAAAGAAGAGGAGG | |||||||||||||||||||||
| Altered gDNA sequence snippet | TAGAGTAATTCTGAGGAAGAGGAGGAAAAAGAAGAGGAGG | |||||||||||||||||||||
| Original cDNA sequence snippet | AAGAGTAATTCTGAGGAAGAAGAGGAGGAAAAAGAAGAGGAGG | |||||||||||||||||||||
| Altered cDNA sequence snippet | AAGAGTAATTCTGAGGAAGAGGAGGAAAAAGAAGAGGAGG | |||||||||||||||||||||
| Wildtype AA sequence | MTAEPMSESK LNTLVQKLHD FLAHSSEESE ETSSPPRLAM NQNTDKISGS GSNSDMMENS KEEGTSSSEK SKSSGSSRSK RKPSIVTKYV ESDDEKPLDD ETVNEDASNE NSENDITMQS LPKEDGLHGI VSCTACGQQV NHFQKDSIYR HPSLQVLICK NCFKYYMSDD ISRDSDGMDE QCRWCAEGGN LICCDFCHNA FCKKCILRNL GRKELSTIMD ENNQWYCYIC HPEPLLDLVT ACNSVFENLE QLLQQNKKKI KVDSEKSNKV YEHTSRFSPK KTSSNCNGEE KKLDDSCSGS VTYSYSALIV PKEMIKKAKK LIETTANMNS SYVKFLKQAT DNSEISSATK LRQLKAFKSV LADIKKAHLA LEEDLNSEFR AMDAVNKEKN TKEHKVIDAK FETKARKGEK PCALEKKDIS KSEAKLSRKQ VDSEHMHQNV PTEEQRTNKS TGGEHKKSDR KEEPQYEPAN TSEDLDMDIV SVPSSVPEDI FENLETAMEV QSSVDHQGDG SSGTEQEVES SSVKLNISSK DNRGGIKSKT TAKVTKELYV KLTPVSLSNS PIKGADCQEV PQDKDGYKSC GLNPKLEKCG LGQENSDNEH LVENEVSLLL EESDLRRSPR VKTTPLRRPT ETNPVTSNSD EECNETVKEK QKLSVPVRKK DKRNSSDSAI DNPKPNKLPK SKQSETVDQN SDSDEMLAIL KEVSRMSHSS SSDTDINEIH TNHKTLYDLK TQAGKDDKGK RKRKSSTSGS DFDTKKGKSA KSSIISKKKR QTQSESSNYD SELEKEIKSM SKIGAARTTK KRIPNTKDFD SSEDEKHSKK GMDNQGHKNL KTSQEGSSDD AERKQERETF SSAEGTVDKD TTIMELRDRL PKKQQASAST DGVDKLSGKE ESFTSLEVRK VAETKEKSKH LKTKTCKKVQ DGLSDIAEKF LKKDQSDETS EDDKKQSKKG TEEKKKPSDF KKKVIKMEQQ YESSSDGTEK LPEREEICHF PKGIKQIKNG TTDGEKKSKK IRDKTSKKKD ELSDYAEKST GKGDSCDSSE DKKSKNGAYG REKKRCKLLG KSSRKRQDCS SSDTEKYSMK EDGCNSSDKR LKRIELRERR NLSSKRNTKE IQSGSSSSDA EESSEDNKKK KQRTSSKKKA VIVKEKKRNS LRTSTKRKQA DITSSSSSDI EDDDQNSIGE GSSDEQKIKP VTENLVLSSH TGFCQSSGDE ALSKSVPVTV DDDDDDNDPE NRIAKKMLLE EIKANLSSDE DGSSDDEPEE GKKRTGKQNE ENPGDEEAKN QVNSESDSDS EESKKPRYRH RLLRHKLTVS DGESGEEKKT KPKEHKEVKG RNRRKVSSED SEDSDFQESG VSEEVSESED EQRPRTRSAK KAELEENQRS YKQKKKRRRI KVQEDSSSEN KSNSEEEEEE KEEEEEEEEE EEEEEEDEND DSKSPGKGRK KIRKILKDDK LRTETQNALK EEEERRKRIA EREREREKLR EVIEIEDASP TKCPITTKLV LDEDEETKEP LVQVHRNMVI KLKPHQVDGV QFMWDCCCES VKKTKKSPGS GCILAHCMGL GKTLQVVSFL HTVLLCDKLD FSTALVVCPL NTALNWMNEF EKWQEGLKDD EKLEVSELAT VKRPQERSYM LQRWQEDGGV MIIGYEMYRN LAQGRNVKSR KLKEIFNKAL VDPGPDFVVC DEGHILKNEA SAVSKAMNSI RSRRRIILTG TPLQNNLIEY HCMVNFIKEN LLGSIKEFRN RFINPIQNGQ CADSTMVDVR VMKKRAHILY EMLAGCVQRK DYTALTKFLP PKHEYVLAVR MTSIQCKLYQ YYLDHLTGVG NNSEGGRGKA GAKLFQDFQM LSRIWTHPWC LQLDYISKEN KGYFDEDSMD EFIASDSDET SMSLSSDDYT KKKKKGKKGK KDSSSSGSGS DNDVEVIKVW NSRSRGGGEG NVDETGNNPS VSLKLEESKA TSSSNPSSPA PDWYKDFVTD ADAEVLEHSG KMVLLFEILR MAEEIGDKVL VFSQSLISLD LIEDFLELAS REKTEDKDKP LIYKGEGKWL RNIDYYRLDG STTAQSRKKW AEEFNDETNV RGRLFIISTK AGSLGINLVA ANRVIIFDAS WNPSYDIQSI FRVYRFGQTK PVYVYRFLAQ GTMEDKIYDR QVTKQSLSFR VVDQQQVERH FTMNELTELY TFEPDLLDDP NSEKKKKRDT PMLPKDTILA ELLQIHKEHI VGYHEHDSLL DHKEEEELTE EERKAAWAEY EAEKKGLTMR FNIPTGTNLP PVSFNSQTPY IPFNLGALSA MSNQQLEDLI NQGREKVVEA TNSVTAVRIQ PLEDIISAVW KENMNLSEAQ VQALALSRQA SQELDVKRRE AIYNDVLTKQ QMLISCVQRI LMNRRLQQQY NQQQQQQMTY QQATLGHLMM PKPPNLIMNP SNYQQIDMRG MYQPVAGGMQ PPPLQRAPPP MRSKNPGPSQ GKSM* | |||||||||||||||||||||
| Mutated AA sequence | MTAEPMSESK LNTLVQKLHD FLAHSSEESE ETSSPPRLAM NQNTDKISGS GSNSDMMENS KEEGTSSSEK SKSSGSSRSK RKPSIVTKYV ESDDEKPLDD ETVNEDASNE NSENDITMQS LPKEDGLHGI VSCTACGQQV NHFQKDSIYR HPSLQVLICK NCFKYYMSDD ISRDSDGMDE QCRWCAEGGN LICCDFCHNA FCKKCILRNL GRKELSTIMD ENNQWYCYIC HPEPLLDLVT ACNSVFENLE QLLQQNKKKI KVDSEKSNKV YEHTSRFSPK KTSSNCNGEE KKLDDSCSGS VTYSYSALIV PKEMIKKAKK LIETTANMNS SYVKFLKQAT DNSEISSATK LRQLKAFKSV LADIKKAHLA LEEDLNSEFR AMDAVNKEKN TKEHKVIDAK FETKARKGEK PCALEKKDIS KSEAKLSRKQ VDSEHMHQNV PTEEQRTNKS TGGEHKKSDR KEEPQYEPAN TSEDLDMDIV SVPSSVPEDI FENLETAMEV QSSVDHQGDG SSGTEQEVES SSVKLNISSK DNRGGIKSKT TAKVTKELYV KLTPVSLSNS PIKGADCQEV PQDKDGYKSC GLNPKLEKCG LGQENSDNEH LVENEVSLLL EESDLRRSPR VKTTPLRRPT ETNPVTSNSD EECNETVKEK QKLSVPVRKK DKRNSSDSAI DNPKPNKLPK SKQSETVDQN SDSDEMLAIL KEVSRMSHSS SSDTDINEIH TNHKTLYDLK TQAGKDDKGK RKRKSSTSGS DFDTKKGKSA KSSIISKKKR QTQSESSNYD SELEKEIKSM SKIGAARTTK KRIPNTKDFD SSEDEKHSKK GMDNQGHKNL KTSQEGSSDD AERKQERETF SSAEGTVDKD TTIMELRDRL PKKQQASAST DGVDKLSGKE ESFTSLEVRK VAETKEKSKH LKTKTCKKVQ DGLSDIAEKF LKKDQSDETS EDDKKQSKKG TEEKKKPSDF KKKVIKMEQQ YESSSDGTEK LPEREEICHF PKGIKQIKNG TTDGEKKSKK IRDKTSKKKD ELSDYAEKST GKGDSCDSSE DKKSKNGAYG REKKRCKLLG KSSRKRQDCS SSDTEKYSMK EDGCNSSDKR LKRIELRERR NLSSKRNTKE IQSGSSSSDA EESSEDNKKK KQRTSSKKKA VIVKEKKRNS LRTSTKRKQA DITSSSSSDI EDDDQNSIGE GSSDEQKIKP VTENLVLSSH TGFCQSSGDE ALSKSVPVTV DDDDDDNDPE NRIAKKMLLE EIKANLSSDE DGSSDDEPEE GKKRTGKQNE ENPGDEEAKN QVNSESDSDS EESKKPRYRH RLLRHKLTVS DGESGEEKKT KPKEHKEVKG RNRRKVSSED SEDSDFQESG VSEEVSESED EQRPRTRSAK KAELEENQRS YKQKKKRRRI KVQEDSSSEN KSNSEEEEEK EEEEEEEEEE EEEEEDENDD SKSPGKGRKK IRKILKDDKL RTETQNALKE EEERRKRIAE REREREKLRE VIEIEDASPT KCPITTKLVL DEDEETKEPL VQVHRNMVIK LKPHQVDGVQ FMWDCCCESV KKTKKSPGSG CILAHCMGLG KTLQVVSFLH TVLLCDKLDF STALVVCPLN TALNWMNEFE KWQEGLKDDE KLEVSELATV KRPQERSYML QRWQEDGGVM IIGYEMYRNL AQGRNVKSRK LKEIFNKALV DPGPDFVVCD EGHILKNEAS AVSKAMNSIR SRRRIILTGT PLQNNLIEYH CMVNFIKENL LGSIKEFRNR FINPIQNGQC ADSTMVDVRV MKKRAHILYE MLAGCVQRKD YTALTKFLPP KHEYVLAVRM TSIQCKLYQY YLDHLTGVGN NSEGGRGKAG AKLFQDFQML SRIWTHPWCL QLDYISKENK GYFDEDSMDE FIASDSDETS MSLSSDDYTK KKKKGKKGKK DSSSSGSGSD NDVEVIKVWN SRSRGGGEGN VDETGNNPSV SLKLEESKAT SSSNPSSPAP DWYKDFVTDA DAEVLEHSGK MVLLFEILRM AEEIGDKVLV FSQSLISLDL IEDFLELASR EKTEDKDKPL IYKGEGKWLR NIDYYRLDGS TTAQSRKKWA EEFNDETNVR GRLFIISTKA GSLGINLVAA NRVIIFDASW NPSYDIQSIF RVYRFGQTKP VYVYRFLAQG TMEDKIYDRQ VTKQSLSFRV VDQQQVERHF TMNELTELYT FEPDLLDDPN SEKKKKRDTP MLPKDTILAE LLQIHKEHIV GYHEHDSLLD HKEEEELTEE ERKAAWAEYE AEKKGLTMRF NIPTGTNLPP VSFNSQTPYI PFNLGALSAM SNQQLEDLIN QGREKVVEAT NSVTAVRIQP LEDIISAVWK ENMNLSEAQV QALALSRQAS QELDVKRREA IYNDVLTKQQ MLISCVQRIL MNRRLQQQYN QQQQQQMTYQ QATLGHLMMP KPPNLIMNPS NYQQIDMRGM YQPVAGGMQP PPLQRAPPPM RSKNPGPSQG KSM* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 7365 / 7362 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2455 / 2454 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 7580 / 7577 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 216 / 216 | |||||||||||||||||||||
| Last intron/exon boundary | 7301 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 7035 | |||||||||||||||||||||
| Length of CDS | 7365 | |||||||||||||||||||||
| Coding sequence (CDS) position | 4220 / 4224 | |||||||||||||||||||||
| cDNA position | 4435 / 4439 | |||||||||||||||||||||
| gDNA position | 133897 / 133901 | |||||||||||||||||||||
| Chromosomal position | 77652333 / 77652337 | |||||||||||||||||||||
| Speed | 0.08 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 | ChrX:77652334_77652336delTCT (GRCh38) | |||||||||||||||||||||
| Gene symbol | ATRX | |||||||||||||||||||||
| Gene constraints | no data | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000373344.11 | |||||||||||||||||||||
| Genbank transcript ID | NM_000489 (exact from MANE) | |||||||||||||||||||||
| UniProt / AlphaMissense peptide | ATRX_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Deletion | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.4335_4337delAGA g.133898_133900delAGA | |||||||||||||||||||||
| AA changes | deletion of 1 or 2 AA
| |||||||||||||||||||||
| Frameshift | No | |||||||||||||||||||||
| Length of protein | Deletion of 1 or 2 AA | |||||||||||||||||||||
| 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 | 18 | |||||||||||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||||||||||
| poly(A) signal | N/A | |||||||||||||||||||||
| AA sequence altered | Yes | |||||||||||||||||||||
| Chromosome | 23 | |||||||||||||||||||||
| Strand | -1 | |||||||||||||||||||||
| Original gDNA sequence snippet | TAGAGTAATTCTGAGGAAGAAGAGGAGGAAAAAGAAGAGGAGG | |||||||||||||||||||||
| Altered gDNA sequence snippet | TAGAGTAATTCTGAGGAAGAGGAGGAAAAAGAAGAGGAGG | |||||||||||||||||||||
| Original cDNA sequence snippet | AAGAGTAATTCTGAGGAAGAAGAGGAGGAAAAAGAAGAGGAGG | |||||||||||||||||||||
| Altered cDNA sequence snippet | AAGAGTAATTCTGAGGAAGAGGAGGAAAAAGAAGAGGAGG | |||||||||||||||||||||
| Wildtype AA sequence | MTAEPMSESK LNTLVQKLHD FLAHSSEESE ETSSPPRLAM NQNTDKISGS GSNSDMMENS KEEGTSSSEK SKSSGSSRSK RKPSIVTKYV ESDDEKPLDD ETVNEDASNE NSENDITMQS LPKGTVIVQP EPVLNEDKDD FKGPEFRSRS KMKTENLKKR GEDGLHGIVS CTACGQQVNH FQKDSIYRHP SLQVLICKNC FKYYMSDDIS RDSDGMDEQC RWCAEGGNLI CCDFCHNAFC KKCILRNLGR KELSTIMDEN NQWYCYICHP EPLLDLVTAC NSVFENLEQL LQQNKKKIKV DSEKSNKVYE HTSRFSPKKT SSNCNGEEKK LDDSCSGSVT YSYSALIVPK EMIKKAKKLI ETTANMNSSY VKFLKQATDN SEISSATKLR QLKAFKSVLA DIKKAHLALE EDLNSEFRAM DAVNKEKNTK EHKVIDAKFE TKARKGEKPC ALEKKDISKS EAKLSRKQVD SEHMHQNVPT EEQRTNKSTG GEHKKSDRKE EPQYEPANTS EDLDMDIVSV PSSVPEDIFE NLETAMEVQS SVDHQGDGSS GTEQEVESSS VKLNISSKDN RGGIKSKTTA KVTKELYVKL TPVSLSNSPI KGADCQEVPQ DKDGYKSCGL NPKLEKCGLG QENSDNEHLV ENEVSLLLEE SDLRRSPRVK TTPLRRPTET NPVTSNSDEE CNETVKEKQK LSVPVRKKDK RNSSDSAIDN PKPNKLPKSK QSETVDQNSD SDEMLAILKE VSRMSHSSSS DTDINEIHTN HKTLYDLKTQ AGKDDKGKRK RKSSTSGSDF DTKKGKSAKS SIISKKKRQT QSESSNYDSE LEKEIKSMSK IGAARTTKKR IPNTKDFDSS EDEKHSKKGM DNQGHKNLKT SQEGSSDDAE RKQERETFSS AEGTVDKDTT IMELRDRLPK KQQASASTDG VDKLSGKEES FTSLEVRKVA ETKEKSKHLK TKTCKKVQDG LSDIAEKFLK KDQSDETSED DKKQSKKGTE EKKKPSDFKK KVIKMEQQYE SSSDGTEKLP EREEICHFPK GIKQIKNGTT DGEKKSKKIR DKTSKKKDEL SDYAEKSTGK GDSCDSSEDK KSKNGAYGRE KKRCKLLGKS SRKRQDCSSS DTEKYSMKED GCNSSDKRLK RIELRERRNL SSKRNTKEIQ SGSSSSDAEE SSEDNKKKKQ RTSSKKKAVI VKEKKRNSLR TSTKRKQADI TSSSSSDIED DDQNSIGEGS SDEQKIKPVT ENLVLSSHTG FCQSSGDEAL SKSVPVTVDD DDDDNDPENR IAKKMLLEEI KANLSSDEDG SSDDEPEEGK KRTGKQNEEN PGDEEAKNQV NSESDSDSEE SKKPRYRHRL LRHKLTVSDG ESGEEKKTKP KEHKEVKGRN RRKVSSEDSE DSDFQESGVS EEVSESEDEQ RPRTRSAKKA ELEENQRSYK QKKKRRRIKV QEDSSSENKS NSEEEEEEKE EEEEEEEEEE EEEEDENDDS KSPGKGRKKI RKILKDDKLR TETQNALKEE EERRKRIAER EREREKLREV IEIEDASPTK CPITTKLVLD EDEETKEPLV QVHRNMVIKL KPHQVDGVQF MWDCCCESVK KTKKSPGSGC ILAHCMGLGK TLQVVSFLHT VLLCDKLDFS TALVVCPLNT ALNWMNEFEK WQEGLKDDEK LEVSELATVK RPQERSYMLQ RWQEDGGVMI IGYEMYRNLA QGRNVKSRKL KEIFNKALVD PGPDFVVCDE GHILKNEASA VSKAMNSIRS RRRIILTGTP LQNNLIEYHC MVNFIKENLL GSIKEFRNRF INPIQNGQCA DSTMVDVRVM KKRAHILYEM LAGCVQRKDY TALTKFLPPK HEYVLAVRMT SIQCKLYQYY LDHLTGVGNN SEGGRGKAGA KLFQDFQMLS RIWTHPWCLQ LDYISKENKG YFDEDSMDEF IASDSDETSM SLSSDDYTKK KKKGKKGKKD SSSSGSGSDN DVEVIKVWNS RSRGGGEGNV DETGNNPSVS LKLEESKATS SSNPSSPAPD WYKDFVTDAD AEVLEHSGKM VLLFEILRMA EEIGDKVLVF SQSLISLDLI EDFLELASRE KTEDKDKPLI YKGEGKWLRN IDYYRLDGST TAQSRKKWAE EFNDETNVRG RLFIISTKAG SLGINLVAAN RVIIFDASWN PSYDIQSIFR VYRFGQTKPV YVYRFLAQGT MEDKIYDRQV TKQSLSFRVV DQQQVERHFT MNELTELYTF EPDLLDDPNS EKKKKRDTPM LPKDTILAEL LQIHKEHIVG YHEHDSLLDH KEEEELTEEE RKAAWAEYEA EKKGLTMRFN IPTGTNLPPV SFNSQTPYIP FNLGALSAMS NQQLEDLINQ GREKVVEATN SVTAVRIQPL EDIISAVWKE NMNLSEAQVQ ALALSRQASQ ELDVKRREAI YNDVLTKQQM LISCVQRILM NRRLQQQYNQ QQQQQMTYQQ ATLGHLMMPK PPNLIMNPSN YQQIDMRGMY QPVAGGMQPP PLQRAPPPMR SKNPGPSQGK SM* | |||||||||||||||||||||
| Mutated AA sequence | MTAEPMSESK LNTLVQKLHD FLAHSSEESE ETSSPPRLAM NQNTDKISGS GSNSDMMENS KEEGTSSSEK SKSSGSSRSK RKPSIVTKYV ESDDEKPLDD ETVNEDASNE NSENDITMQS LPKGTVIVQP EPVLNEDKDD FKGPEFRSRS KMKTENLKKR GEDGLHGIVS CTACGQQVNH FQKDSIYRHP SLQVLICKNC FKYYMSDDIS RDSDGMDEQC RWCAEGGNLI CCDFCHNAFC KKCILRNLGR KELSTIMDEN NQWYCYICHP EPLLDLVTAC NSVFENLEQL LQQNKKKIKV DSEKSNKVYE HTSRFSPKKT SSNCNGEEKK LDDSCSGSVT YSYSALIVPK EMIKKAKKLI ETTANMNSSY VKFLKQATDN SEISSATKLR QLKAFKSVLA DIKKAHLALE EDLNSEFRAM DAVNKEKNTK EHKVIDAKFE TKARKGEKPC ALEKKDISKS EAKLSRKQVD SEHMHQNVPT EEQRTNKSTG GEHKKSDRKE EPQYEPANTS EDLDMDIVSV PSSVPEDIFE NLETAMEVQS SVDHQGDGSS GTEQEVESSS VKLNISSKDN RGGIKSKTTA KVTKELYVKL TPVSLSNSPI KGADCQEVPQ DKDGYKSCGL NPKLEKCGLG QENSDNEHLV ENEVSLLLEE SDLRRSPRVK TTPLRRPTET NPVTSNSDEE CNETVKEKQK LSVPVRKKDK RNSSDSAIDN PKPNKLPKSK QSETVDQNSD SDEMLAILKE VSRMSHSSSS DTDINEIHTN HKTLYDLKTQ AGKDDKGKRK RKSSTSGSDF DTKKGKSAKS SIISKKKRQT QSESSNYDSE LEKEIKSMSK IGAARTTKKR IPNTKDFDSS EDEKHSKKGM DNQGHKNLKT SQEGSSDDAE RKQERETFSS AEGTVDKDTT IMELRDRLPK KQQASASTDG VDKLSGKEES FTSLEVRKVA ETKEKSKHLK TKTCKKVQDG LSDIAEKFLK KDQSDETSED DKKQSKKGTE EKKKPSDFKK KVIKMEQQYE SSSDGTEKLP EREEICHFPK GIKQIKNGTT DGEKKSKKIR DKTSKKKDEL SDYAEKSTGK GDSCDSSEDK KSKNGAYGRE KKRCKLLGKS SRKRQDCSSS DTEKYSMKED GCNSSDKRLK RIELRERRNL SSKRNTKEIQ SGSSSSDAEE SSEDNKKKKQ RTSSKKKAVI VKEKKRNSLR TSTKRKQADI TSSSSSDIED DDQNSIGEGS SDEQKIKPVT ENLVLSSHTG FCQSSGDEAL SKSVPVTVDD DDDDNDPENR IAKKMLLEEI KANLSSDEDG SSDDEPEEGK KRTGKQNEEN PGDEEAKNQV NSESDSDSEE SKKPRYRHRL LRHKLTVSDG ESGEEKKTKP KEHKEVKGRN RRKVSSEDSE DSDFQESGVS EEVSESEDEQ RPRTRSAKKA ELEENQRSYK QKKKRRRIKV QEDSSSENKS NSEEEEEKEE EEEEEEEEEE EEEDENDDSK SPGKGRKKIR KILKDDKLRT ETQNALKEEE ERRKRIAERE REREKLREVI EIEDASPTKC PITTKLVLDE DEETKEPLVQ VHRNMVIKLK PHQVDGVQFM WDCCCESVKK TKKSPGSGCI LAHCMGLGKT LQVVSFLHTV LLCDKLDFST ALVVCPLNTA LNWMNEFEKW QEGLKDDEKL EVSELATVKR PQERSYMLQR WQEDGGVMII GYEMYRNLAQ GRNVKSRKLK EIFNKALVDP GPDFVVCDEG HILKNEASAV SKAMNSIRSR RRIILTGTPL QNNLIEYHCM VNFIKENLLG SIKEFRNRFI NPIQNGQCAD STMVDVRVMK KRAHILYEML AGCVQRKDYT ALTKFLPPKH EYVLAVRMTS IQCKLYQYYL DHLTGVGNNS EGGRGKAGAK LFQDFQMLSR IWTHPWCLQL DYISKENKGY FDEDSMDEFI ASDSDETSMS LSSDDYTKKK KKGKKGKKDS SSSGSGSDND VEVIKVWNSR SRGGGEGNVD ETGNNPSVSL KLEESKATSS SNPSSPAPDW YKDFVTDADA EVLEHSGKMV LLFEILRMAE EIGDKVLVFS QSLISLDLIE DFLELASREK TEDKDKPLIY KGEGKWLRNI DYYRLDGSTT AQSRKKWAEE FNDETNVRGR LFIISTKAGS LGINLVAANR VIIFDASWNP SYDIQSIFRV YRFGQTKPVY VYRFLAQGTM EDKIYDRQVT KQSLSFRVVD QQQVERHFTM NELTELYTFE PDLLDDPNSE KKKKRDTPML PKDTILAELL QIHKEHIVGY HEHDSLLDHK EEEELTEEER KAAWAEYEAE KKGLTMRFNI PTGTNLPPVS FNSQTPYIPF NLGALSAMSN QQLEDLINQG REKVVEATNS VTAVRIQPLE DIISAVWKEN MNLSEAQVQA LALSRQASQE LDVKRREAIY NDVLTKQQML ISCVQRILMN RRLQQQYNQQ QQQQMTYQQA TLGHLMMPKP PNLIMNPSNY QQIDMRGMYQ PVAGGMQPPP LQRAPPPMRS KNPGPSQGKS M* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 7479 / 7476 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2493 / 2492 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 7694 / 7691 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 216 / 216 | |||||||||||||||||||||
| Last intron/exon boundary | 7415 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 7149 | |||||||||||||||||||||
| Length of CDS | 7479 | |||||||||||||||||||||
| Coding sequence (CDS) position | 4334 / 4338 | |||||||||||||||||||||
| cDNA position | 4549 / 4553 | |||||||||||||||||||||
| gDNA position | 133897 / 133901 | |||||||||||||||||||||
| Chromosomal position | 77652333 / 77652337 | |||||||||||||||||||||
| Speed | 0.06 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