Yum, tasty mutations...

MutationTaster - study a chromosomal position

MTQE documentation
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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000405460
MT speed 1.75 s - this script 7.72842 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ADGRV1polymorphism_automatic0.455364806382515simple_aaeaffectedN1985Dsingle base exchangers41303352show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.544635193617485 (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) chr5:89979691A>GN/A show variant in all transcripts   IGV
HGNC symbol ADGRV1
Ensembl transcript ID ENST00000405460
Genbank transcript ID NM_032119
UniProt peptide Q8WXG9
alteration type single base exchange
alteration region CDS
DNA changes c.5953A>G
cDNA.6049A>G
g.154531A>G
AA changes N1985D Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1985
frameshift no
known variant Reference ID: rs41303352
databasehomozygous (G/G)heterozygousallele carriers
1000G2259361161
ExAC23991691719316
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7940.994
3.5121
(flanking)1.350.998
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased154523wt: 0.20 / mu: 0.30wt: ATATGGGATATTCATTTTTTCTGAGAAAAACAGACCTGTTA
mu: ATATGGGATATTCATTTTTTCTGAGAAAGACAGACCTGTTA
 tttc|TGAG
Acc marginally increased154524wt: 0.6275 / mu: 0.6889 (marginal change - not scored)wt: TATGGGATATTCATTTTTTCTGAGAAAAACAGACCTGTTAA
mu: TATGGGATATTCATTTTTTCTGAGAAAGACAGACCTGTTAA
 ttct|GAGA
Donor marginally increased154524wt: 0.9833 / mu: 0.9865 (marginal change - not scored)wt: TTTTCTGAGAAAAAC
mu: TTTTCTGAGAAAGAC
 TTCT|gaga
Donor gained1545300.82mu: GAGAAAGACAGACCT GAAA|gaca
Donor gained1545250.77mu: TTTCTGAGAAAGACA TCTG|agaa
distance from splice site 289
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1985DPYGIFIFSEKNRPVKVEEATQNI
mutated  all conserved    1985FSEKDRPVKVEEATQN
Ptroglodytes  all identical  ENSPTRG00000017070  1985FSEKNRPVKVEEATQN
Mmulatta  no alignment  ENSMMUG00000018976  n/a
Fcatus  no alignment  ENSFCAG00000012405  n/a
Mmusculus  not conserved  ENSMUSG00000069170  1981FIFPNKTRPLSVEEATQN
Ggallus  all identical  ENSGALG00000014657  1986EKNRPIKVEEETKN
Trubripes  not conserved  ENSTRUG00000001058  1982HPYGVFVFANETRHVRLPEADAT
Drerio  not conserved  ENSDARG00000021137  1969DPYGLFVFSDNTRPVHVAEANAL
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000019628  1980KNRPIKVEEANRN
protein features
start (aa)end (aa)featuredetails 
305908TOPO_DOMExtracellular (Potential).lost
20382078DOMAINCalx-beta 14.might get lost (downstream of altered splice site)
21652205DOMAINCalx-beta 15.might get lost (downstream of altered splice site)
22832323DOMAINCalx-beta 16.might get lost (downstream of altered splice site)
25012541DOMAINCalx-beta 17.might get lost (downstream of altered splice site)
26352675DOMAINCalx-beta 18.might get lost (downstream of altered splice site)
27492789DOMAINCalx-beta 19.might get lost (downstream of altered splice site)
28842924DOMAINCalx-beta 20.might get lost (downstream of altered splice site)
30073047DOMAINCalx-beta 21.might get lost (downstream of altered splice site)
31313171DOMAINCalx-beta 22.might get lost (downstream of altered splice site)
31893241REPEATEAR 1.might get lost (downstream of altered splice site)
32303230CONFLICTG -> D (in Ref. 2; AAL30811).might get lost (downstream of altered splice site)
32963345REPEATEAR 2.might get lost (downstream of altered splice site)
33473393REPEATEAR 3.might get lost (downstream of altered splice site)
33943439REPEATEAR 4.might get lost (downstream of altered splice site)
34403488REPEATEAR 5.might get lost (downstream of altered splice site)
34913534REPEATEAR 6.might get lost (downstream of altered splice site)
35283528CONFLICTA -> T (in Ref. 2; AAL30811).might get lost (downstream of altered splice site)
35523552CONFLICTA -> V (in Ref. 2; AAL30811).might get lost (downstream of altered splice site)
35843625DOMAINCalx-beta 23.might get lost (downstream of altered splice site)
37003739DOMAINCalx-beta 24.might get lost (downstream of altered splice site)
38343875DOMAINCalx-beta 25.might get lost (downstream of altered splice site)
39654005DOMAINCalx-beta 26.might get lost (downstream of altered splice site)
40824122DOMAINCalx-beta 27.might get lost (downstream of altered splice site)
41994239DOMAINCalx-beta 28.might get lost (downstream of altered splice site)
42444244CONFLICTE -> G (in Ref. 2; AAL30811).might get lost (downstream of altered splice site)
43134353DOMAINCalx-beta 29.might get lost (downstream of altered splice site)
44484488DOMAINCalx-beta 30.might get lost (downstream of altered splice site)
45704612DOMAINCalx-beta 31.might get lost (downstream of altered splice site)
46934734DOMAINCalx-beta 32.might get lost (downstream of altered splice site)
50535094DOMAINCalx-beta 33.might get lost (downstream of altered splice site)
52915333DOMAINCalx-beta 34.might get lost (downstream of altered splice site)
54275427CONFLICTV -> M (in Ref. 1; AAD55586, 2; AAL30811 and 6; BAA31661).might get lost (downstream of altered splice site)
54275468DOMAINCalx-beta 35.might get lost (downstream of altered splice site)
58535902DOMAINGPS.might get lost (downstream of altered splice site)
58765876CONFLICTV -> I (in Ref. 1; AAD55586, 2; AAL30811 and 6; BAA31661).might get lost (downstream of altered splice site)
59095929TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
59305939TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
59405960TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
59615979TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
59806000TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
60016010TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
60116031TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
60326059TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
60606080TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
60816104TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
61056125TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
61266133TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
61346154TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
61556306TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 18921 / 18921
position (AA) of stopcodon in wt / mu AA sequence 6307 / 6307
position of stopcodon in wt / mu cDNA 19017 / 19017
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 97 / 97
chromosome 5
strand 1
last intron/exon boundary 18899
theoretical NMD boundary in CDS 18752
length of CDS 18921
coding sequence (CDS) position 5953
cDNA position
(for ins/del: last normal base / first normal base)
6049
gDNA position
(for ins/del: last normal base / first normal base)
154531
chromosomal position
(for ins/del: last normal base / first normal base)
89979691
original gDNA sequence snippet TATTCATTTTTTCTGAGAAAAACAGACCTGTTAAAGTTGAG
altered gDNA sequence snippet TATTCATTTTTTCTGAGAAAGACAGACCTGTTAAAGTTGAG
original cDNA sequence snippet TATTCATTTTTTCTGAGAAAAACAGACCTGTTAAAGTTGAG
altered cDNA sequence snippet TATTCATTTTTTCTGAGAAAGACAGACCTGTTAAAGTTGAG
wildtype AA sequence MSVFLGPGMP SASLLVNLLS ALLILFVFGE TEIRFTGQTE FVVNETSTTV IRLIIERIGE
PANVTAIVSL YGEDAGDFFD TYAAAFIPAG ETNRTVYIAV CDDDLPEPDE TFIFHLTLQK
PSANVKLGWP RTVTVTILSN DNAFGIISFN MLPSIAVSEP KGRNESMPLT LIREKGTYGM
VMVTFEVEGG PNPPDEDLSP VKGNITFPPG RATVIYNLTV LDDEVPENDE IFLIQLKSVE
GGAEINTSRN SIEIIIKKND SPVRFLQSIY LVPEEDHILI IPVVRGKDNN GNLIGSDEYE
VSISYAVTTG NSTAHAQQNL DFIDLQPNTT VVFPPFIHES HLKFQIVDDT IPEIAESFHI
MLLKDTLQGD AVLISPSVVQ VTIKPNDKPY GVLSFNSVLF ERTVIIDEDR ISRYEEITVV
RNGGTHGNVS ANWVLTRNST DPSPVTADIR PSSGVLHFAQ GQMLATIPLT VVDDDLPEEA
EAYLLQILPH TIRGGAEVSE PAELLFYIQD SDDVYGLITF FPMENQKIES SPGERYLSLS
FTRLGGTKGD VRLLYSVLYI PAGAVDPLQA KEGILNISRR NDLIFPEQKT QVTTKLPIRN
DAFLQNGAHF LVQLETVELL NIIPLIPPIS PRFGEICNIS LLVTPAIANG EIGFLSNLPI
ILHEPEDFAA EVVYIPLHRD GTDGQATVYW SLKPSGFNSK AVTPDDIGPF NGSVLFLSGQ
SDTTINITIK GDDIPEMNET VTLSLDRVNV ENQVLKSGYT SRDLIILEND DPGGVFEFSP
ASRGPYVIKE GESVELHIIR SRGSLVKQFL HYRVEPRDSN EFYGNTGVLE FKPGEREIVI
TLLARLDGIP ELDEHYWVVL SSHGERESKL GSATIVNITI LKNDDPHGII EFVSDGLIVM
INESKGDAIY SAVYDVVRNR GNFGDVSVSW VVSPDFTQDV FPVQGTVVFG DQEFSKNITI
YSLPDEIPEE MEEFTVILLN GTGGAKVGNR TTATLRIRRN DDPIYFAEPR VVRVQEGETA
NFTVLRNGSV DVTCMVQYAT KDGKATARER DFIPVEKGET LIFEVGSRQQ SISIFVNEDG
IPETDEPFYI ILLNSTGDTV VYQYGVATVI IEANDDPNGI FSLEPIDKAV EEGKTNAFWI
LRHRGYFGSV SVSWQLFQND SALQPGQEFY ETSGTVNFMD GEEAKPIILH AFPDKIPEFN
EFYFLKLVNI SGGSPGPGGQ LAETNLQVTV MVPFNDDPFG VFILDPECLE REVAEDVLSE
DDMSYITNFT ILRQQGVFGD VQLGWEILSS EFPAGLPPMI DFLLVGIFPT TVHLQQHMRR
HHSGTDALYF TGLEGAFGTV NPKYHPSRNN TIANFTFSAW VMPNANTNGF IIAKDDGNGS
IYYGVKIQTN ESHVTLSLHY KTLGSNATYI AKTTVMKYLE ESVWLHLLII LEDGIIEFYL
DGNAMPRGIK SLKGEAITDG PGILRIGAGI NGNDRFTGLM QDVRSYERKL TLEEIYELHA
MPAKSDLHPI SGYLEFRQGE TNKSFIISAR DDNDEEGEEL FILKLVSVYG GARISEENTT
ARLTIQKSDN ANGLFGFTGA CIPEIAEEGS TISCVVERTR GALDYVHVFY TISQIETDGI
NYLVDDFANA SGTITFLPWQ RSEVLNIYVL DDDIPELNEY FRVTLVSAIP GDGKLGSTPT
SGASIDPEKE TTDITIKASD HPYGLLQFST GLPPQPKDAM TLPASSVPHI TVEEEDGEIR
LLVIRAQGLL GRVTAEFRTV SLTAFSPEDY QNVAGTLEFQ PGERYKYIFI NITDNSIPEL
EKSFKVELLN LEGGVAELFR VDGSGSGDGD MEFFLPTIHK RASLGVASQI LVTIAASDHA
HGVFEFSPES LFVSGTEPED GYSTVTLNVI RHHGTLSPVT LHWNIDSDPD GDLAFTSGNI
TFEIGQTSAN ITVEILPDED PELDKAFSVS VLSVSSGSLG AHINATLTVL ASDDPYGIFI
FSEKNRPVKV EEATQNITLS IIRLKGLMGK VLVSYATLDD MEKPPYFPPN LARATQGRDY
IPASGFALFG ANQSEATIAI SILDDDEPER SESVFIELLN STLVAKVQSR SIPNSPRLGP
KVETIAQLII IANDDAFGTL QLSAPIVRVA ENHVGPIINV TRTGGAFADV SVKFKAVPIT
AIAGEDYSIA SSDVVLLEGE TSKAVPIYVI NDIYPELEES FLVQLMNETT GGARLGALTE
AVIIIEASDD PYGLFGFQIT KLIVEEPEFN SVKVNLPIIR NSGTLGNVTV QWVATINGQL
ATGDLRVVSG NVTFAPGETI QTLLLEVLAD DVPEIEEVIQ VQLTDASGGG TIGLDRIANI
IIPANDDPYG TVAFAQMVYR VQEPLERSSC ANITVRRSGG HFGRLLLFYS TSDIDVVALA
MEEGQDLLSY YESPIQGVPD PLWRTWMNVS AVGEPLYTCA TLCLKEQACS AFSFFSASEG
PQCFWMTSWI SPAVNNSDFW TYRKNMTRVA SLFSGQAVAG SDYEPVTRQW AIMQEGDEFA
NLTVSILPDD FPEMDESFLI SLLEVHLMNI SASLKNQPTI GQPNISTVVI ALNGDAFGVF
VIYNISPNTS EDGLFVEVQE QPQTLVELMI HRTGGSLGQV AVEWRVVGGT ATEGLDFIGA
GEILTFAEGE TKKTVILTIL DDSEPEDDES IIVSLVYTEG GSRILPSSDT VRVNILANDN
VAGIVSFQTA SRSVIGHEGE ILQFHVIRTF PGRGNVTVNW KIIGQNLELN FANFSGQLFF
PEGSLNTTLF VHLLDDNIPE EKEVYQVILY DVRTQGVPPA GIALLDAQGY AAVLTVEASD
EPHGVLNFAL SSRFVLLQEA NITIQLFINR EFGSLGAINV TYTTVPGMLS LKNQTVGNLA
EPEVDFVPII GFLILEEGET AAAINITILE DDVPELEEYF LVNLTYVGLT MAASTSFPPR
LDSEGLTAQV IIDANDGARG VIEWQQSRFE VNETHGSLTL VAQRSREPLG HVSLFVYAQN
LEAQVGLDYI FTPMILHFAD GERYKNVNIM ILDDDIPEGD EKFQLILTNP SPGLELGKNT
IALIIVLAND DGPGVLSFNN SEHFFLREPT ALYVQESVAV LYIVREPAQG LFGTVTVQFI
VTEVNSSNES KDLTPSKGYI VLEEGVRFKA LQISAILDTE PEMDEYFVCT LFNPTGGARL
GVHVQTLITV LQNQAPLGLF SISAVENRAT SIDIEEANRT VYLNVSRTNG IDLAVSVQWE
TVSETAFGMR GMDVVFSVFQ SFLDESASGW CFFTLENLIY GIMLRKSSVT VYRWQGIFIP
VEDLNIENPK TCEAFNIGFS PYFVITHEER NEEKPSLNSV FTFTSGFKLF LVQTIIILES
SQVRYFTSDS QDYLIIASQR DDSELTQVFR WNGGSFVLHQ KLPVRGVLTV ALFNKGGSVF
LAISQANARL NSLLFRWSGS GFINFQEVPV SGTTEVEALS SANDIYLIFA ENVFLGDQNS
IDIFIWEMGQ SSFRYFQSVD FAAVNRIHSF TPASGIAHIL LIGQDMSALY CWNSERNQFS
FVLEVPSAYD VASVTVKSLN SSKNLIALVG AHSHIYELAY ISSHSDFIPS SGELIFEPGE
REATIAVNIL DDTVPEKEES FKVQLKNPKG GAEIGINDSV TITILSNDDA YGIVAFAQNS
LYKQVEEMEQ DSLVTLNVER LKGTYGRITI AWEADGSISD IFPTSGVILF TEGQVLSTIT
LTILADNIPE LSEVVIVTLT RITTEGVEDS YKGATIDQDR SKSVITTLPN DSPFGLVGWR
AASVFIRVAE PKENTTTLQL QIARDKGLLG DIAIHLRAQP NFLLHVDNQA TENEDYVLQE
TIIIMKENIK EAHAEVSILP DDLPELEEGF IVTITEVNLV NSDFSTGQPS VRRPGMEIAE
IMIEENDDPR GIFMFHVTRG AGEVITAYEV PPPLNVLQVP VVRLAGSFGA VNVYWKASPD
SAGLEDFKPS HGILEFADKQ VTAMIEITII DDAEFELTET FNISLISVAG GGRLGDDVVV
TVVIPQNDSP FGVFGFEEKT VMIDESLSSD DPDSYVTLTV VRSPGGKGTV RLEWTIDEKA
KHNLSPLNGT LHFDETESQK TIVLHTLQDT VLEEDRRFTI QLISIDEVEI SPVKGSASII
IRGDKRASGE VGIAPSSRHI LIGEPSAKYN GTAIISLVRG PGILGEVTVF WRIFPPSVGE
FAETSGKLTM RDEQSAVIVV IQALNDDIPE EKSFYEFQLT AVSEGGVLSE SSSTANITVV
ASDSPYGRFA FSHEQLRVSE AQRVNITIIR SSGDFGHVRL WYKTMSGTAE AGLDFVPAAG
ELLFEAGEMR KSLHVEILDD DYPEGPEEFS LTITKVELQG RGYDFTIQEN GLQIDQPPEI
GNISIVRIII MKNDNAEGII EFDPKYTAFE VEEDVGLIMI PVVRLHGTYG YVTADFISQS
SSASPGGVDY ILHGSTVTFQ HGQNLSFINI SIIDDNESEF EEPIEILLTG ATGGAVLGRH
LVSRIIIAKS DSPFGVIRFL NQSKISIANP NSTMILSLVL ERTGGLLGEI QVNWETVGPN
SQEALLPQNR DIADPVSGLF YFGEGEGGVR TIILTIYPHE EIEVEETFII KLHLVKGEAK
LDSRAKDVTL TIQEFGDPNG VVQFAPETLS KKTYSEPLAL EGPLLITFFV RRVKGTFGEI
MVYWELSSEF DITEDFLSTS GFFTIADGES EASFDVHLLP DEVPEIEEDY VIQLVSVEGG
AELDLEKSIT WFSVYANDDP HGVFALYSDR QSILIGQNLI RSIQINITRL AGTFGDVAVG
LRISSDHKEQ PIVTENAERQ LVVKDGATYK VDVVPIKNQV FLSLGSNFTL QLVTVMLVGG
RFYGMPTILQ EAKSAVLPVS EKAANSQVGF ESTAFQLMNI TAGTSHVMIS RRGTYGALSV
AWTTGYAPGL EIPEFIVVGN MTPTLGSLSF SHGEQRKGVF LWTFPSPGWP EAFVLHLSGV
QSSAPGGAQL RSGFIVAEIE PMGVFQFSTS SRNIIVSEDT QMIRLHVQRL FGFHSDLIKV
SYQTTAGSAK PLEDFEPVQN GELFFQKFQT EVDFEITIIN DQLSEIEEFF YINLTSVEIR
GLQKFDVNWS PRLNLDFSVA VITILDNDDL AGMDISFPET TVAVAVDTTL IPVETESTTY
LSTSKTTTIL QPTNVVAIVT EATGVSAIPE KLVTLHGTPA VSEKPDVATV TANVSIHGTF
SLGPSIVYIE EEMKNGTFNT AEVLIRRTGG FTGNVSITVK TFGERCAQME PNALPFRGIY
GISNLTWAVE EEDFEEQTLT LIFLDGERER KVSVQILDDD EPEGQEFFYV FLTNPQGGAQ
IVEEKDDTGF AAFAMVIITG SDLHNGIIGF SEESQSGLEL REGAVMRRLH LIVTRQPNRA
FEDVKVFWRV TLNKTVVVLQ KDGVNLVEEL QSVSGTTTCT MGQTKCFISI ELKPEKVPQV
EVYFFVELYE ATAGAAINNS ARFAQIKILE SDESQSLVYF SVGSRLAVAH KKATLISLQV
ARDSGTGLMM SVNFSTQELR SAETIGRTII SPAISGKDFV ITEGTLVFEP GQRSTVLDVI
LTPETGSLNS FPKRFQIVLF DPKGGARIDK VYGTANITLV SDADSQAIWG LADQLHQPVN
DDILNRVLHT ISMKVATENT DEQLSAMMHL IEKITTEGKI QAFSVASRTL FYEILCSLIN
PKRKDTRGFS HFAEVTENFA FSLLTNVTCG SPGEKSKTIL DSCPYLSILA LHWYPQQING
HKFEGKEGDY IRIPERLLDV QDAEIMAGKS TCKLVQFTEY SSQQWFISGN NLPTLKNKVL
SLSVKGQSSQ LLTNDNEVLY RIYAAEPRII PQTSLCLLWN QAAASWLSDS QFCKVVEETA
DYVECACSHM SVYAVYARTD NLSSYNEAFF TSGFICISGL CLAVLSHIFC ARYSMFAAKL
LTHMMAASLG TQILFLASAY ASPQLAEESC SAMAAVTHYL YLCQFSWMLI QSVNFWYVLV
MNDEHTERRY LLFFLLSWGL PAFVVILLIV ILKGIYHQSM SQIYGLIHGD LCFIPNVYAA
LFTAALVPLT CLVVVFVVFI HAYQVKPQWK AYDDVFRGRT NAAEIPLILY LFALISVTWL
WGGLHMAYRH FWMLVLFVIF NSLQGLYVFM VYFILHNQMC CPMKASYTVE MNGHPGPSTA
FFTPGSGMPP AGGEISKSTQ NLIGAMEEVP PDWERASFQQ GSQASPDLKP SPQNGATFPS
SGGYGQGSLI ADEESQEFDD LIFALKTGAG LSVSDNESGQ GSQEGGTLTD SQIVELRRIP
IADTHL*
mutated AA sequence MSVFLGPGMP SASLLVNLLS ALLILFVFGE TEIRFTGQTE FVVNETSTTV IRLIIERIGE
PANVTAIVSL YGEDAGDFFD TYAAAFIPAG ETNRTVYIAV CDDDLPEPDE TFIFHLTLQK
PSANVKLGWP RTVTVTILSN DNAFGIISFN MLPSIAVSEP KGRNESMPLT LIREKGTYGM
VMVTFEVEGG PNPPDEDLSP VKGNITFPPG RATVIYNLTV LDDEVPENDE IFLIQLKSVE
GGAEINTSRN SIEIIIKKND SPVRFLQSIY LVPEEDHILI IPVVRGKDNN GNLIGSDEYE
VSISYAVTTG NSTAHAQQNL DFIDLQPNTT VVFPPFIHES HLKFQIVDDT IPEIAESFHI
MLLKDTLQGD AVLISPSVVQ VTIKPNDKPY GVLSFNSVLF ERTVIIDEDR ISRYEEITVV
RNGGTHGNVS ANWVLTRNST DPSPVTADIR PSSGVLHFAQ GQMLATIPLT VVDDDLPEEA
EAYLLQILPH TIRGGAEVSE PAELLFYIQD SDDVYGLITF FPMENQKIES SPGERYLSLS
FTRLGGTKGD VRLLYSVLYI PAGAVDPLQA KEGILNISRR NDLIFPEQKT QVTTKLPIRN
DAFLQNGAHF LVQLETVELL NIIPLIPPIS PRFGEICNIS LLVTPAIANG EIGFLSNLPI
ILHEPEDFAA EVVYIPLHRD GTDGQATVYW SLKPSGFNSK AVTPDDIGPF NGSVLFLSGQ
SDTTINITIK GDDIPEMNET VTLSLDRVNV ENQVLKSGYT SRDLIILEND DPGGVFEFSP
ASRGPYVIKE GESVELHIIR SRGSLVKQFL HYRVEPRDSN EFYGNTGVLE FKPGEREIVI
TLLARLDGIP ELDEHYWVVL SSHGERESKL GSATIVNITI LKNDDPHGII EFVSDGLIVM
INESKGDAIY SAVYDVVRNR GNFGDVSVSW VVSPDFTQDV FPVQGTVVFG DQEFSKNITI
YSLPDEIPEE MEEFTVILLN GTGGAKVGNR TTATLRIRRN DDPIYFAEPR VVRVQEGETA
NFTVLRNGSV DVTCMVQYAT KDGKATARER DFIPVEKGET LIFEVGSRQQ SISIFVNEDG
IPETDEPFYI ILLNSTGDTV VYQYGVATVI IEANDDPNGI FSLEPIDKAV EEGKTNAFWI
LRHRGYFGSV SVSWQLFQND SALQPGQEFY ETSGTVNFMD GEEAKPIILH AFPDKIPEFN
EFYFLKLVNI SGGSPGPGGQ LAETNLQVTV MVPFNDDPFG VFILDPECLE REVAEDVLSE
DDMSYITNFT ILRQQGVFGD VQLGWEILSS EFPAGLPPMI DFLLVGIFPT TVHLQQHMRR
HHSGTDALYF TGLEGAFGTV NPKYHPSRNN TIANFTFSAW VMPNANTNGF IIAKDDGNGS
IYYGVKIQTN ESHVTLSLHY KTLGSNATYI AKTTVMKYLE ESVWLHLLII LEDGIIEFYL
DGNAMPRGIK SLKGEAITDG PGILRIGAGI NGNDRFTGLM QDVRSYERKL TLEEIYELHA
MPAKSDLHPI SGYLEFRQGE TNKSFIISAR DDNDEEGEEL FILKLVSVYG GARISEENTT
ARLTIQKSDN ANGLFGFTGA CIPEIAEEGS TISCVVERTR GALDYVHVFY TISQIETDGI
NYLVDDFANA SGTITFLPWQ RSEVLNIYVL DDDIPELNEY FRVTLVSAIP GDGKLGSTPT
SGASIDPEKE TTDITIKASD HPYGLLQFST GLPPQPKDAM TLPASSVPHI TVEEEDGEIR
LLVIRAQGLL GRVTAEFRTV SLTAFSPEDY QNVAGTLEFQ PGERYKYIFI NITDNSIPEL
EKSFKVELLN LEGGVAELFR VDGSGSGDGD MEFFLPTIHK RASLGVASQI LVTIAASDHA
HGVFEFSPES LFVSGTEPED GYSTVTLNVI RHHGTLSPVT LHWNIDSDPD GDLAFTSGNI
TFEIGQTSAN ITVEILPDED PELDKAFSVS VLSVSSGSLG AHINATLTVL ASDDPYGIFI
FSEKDRPVKV EEATQNITLS IIRLKGLMGK VLVSYATLDD MEKPPYFPPN LARATQGRDY
IPASGFALFG ANQSEATIAI SILDDDEPER SESVFIELLN STLVAKVQSR SIPNSPRLGP
KVETIAQLII IANDDAFGTL QLSAPIVRVA ENHVGPIINV TRTGGAFADV SVKFKAVPIT
AIAGEDYSIA SSDVVLLEGE TSKAVPIYVI NDIYPELEES FLVQLMNETT GGARLGALTE
AVIIIEASDD PYGLFGFQIT KLIVEEPEFN SVKVNLPIIR NSGTLGNVTV QWVATINGQL
ATGDLRVVSG NVTFAPGETI QTLLLEVLAD DVPEIEEVIQ VQLTDASGGG TIGLDRIANI
IIPANDDPYG TVAFAQMVYR VQEPLERSSC ANITVRRSGG HFGRLLLFYS TSDIDVVALA
MEEGQDLLSY YESPIQGVPD PLWRTWMNVS AVGEPLYTCA TLCLKEQACS AFSFFSASEG
PQCFWMTSWI SPAVNNSDFW TYRKNMTRVA SLFSGQAVAG SDYEPVTRQW AIMQEGDEFA
NLTVSILPDD FPEMDESFLI SLLEVHLMNI SASLKNQPTI GQPNISTVVI ALNGDAFGVF
VIYNISPNTS EDGLFVEVQE QPQTLVELMI HRTGGSLGQV AVEWRVVGGT ATEGLDFIGA
GEILTFAEGE TKKTVILTIL DDSEPEDDES IIVSLVYTEG GSRILPSSDT VRVNILANDN
VAGIVSFQTA SRSVIGHEGE ILQFHVIRTF PGRGNVTVNW KIIGQNLELN FANFSGQLFF
PEGSLNTTLF VHLLDDNIPE EKEVYQVILY DVRTQGVPPA GIALLDAQGY AAVLTVEASD
EPHGVLNFAL SSRFVLLQEA NITIQLFINR EFGSLGAINV TYTTVPGMLS LKNQTVGNLA
EPEVDFVPII GFLILEEGET AAAINITILE DDVPELEEYF LVNLTYVGLT MAASTSFPPR
LDSEGLTAQV IIDANDGARG VIEWQQSRFE VNETHGSLTL VAQRSREPLG HVSLFVYAQN
LEAQVGLDYI FTPMILHFAD GERYKNVNIM ILDDDIPEGD EKFQLILTNP SPGLELGKNT
IALIIVLAND DGPGVLSFNN SEHFFLREPT ALYVQESVAV LYIVREPAQG LFGTVTVQFI
VTEVNSSNES KDLTPSKGYI VLEEGVRFKA LQISAILDTE PEMDEYFVCT LFNPTGGARL
GVHVQTLITV LQNQAPLGLF SISAVENRAT SIDIEEANRT VYLNVSRTNG IDLAVSVQWE
TVSETAFGMR GMDVVFSVFQ SFLDESASGW CFFTLENLIY GIMLRKSSVT VYRWQGIFIP
VEDLNIENPK TCEAFNIGFS PYFVITHEER NEEKPSLNSV FTFTSGFKLF LVQTIIILES
SQVRYFTSDS QDYLIIASQR DDSELTQVFR WNGGSFVLHQ KLPVRGVLTV ALFNKGGSVF
LAISQANARL NSLLFRWSGS GFINFQEVPV SGTTEVEALS SANDIYLIFA ENVFLGDQNS
IDIFIWEMGQ SSFRYFQSVD FAAVNRIHSF TPASGIAHIL LIGQDMSALY CWNSERNQFS
FVLEVPSAYD VASVTVKSLN SSKNLIALVG AHSHIYELAY ISSHSDFIPS SGELIFEPGE
REATIAVNIL DDTVPEKEES FKVQLKNPKG GAEIGINDSV TITILSNDDA YGIVAFAQNS
LYKQVEEMEQ DSLVTLNVER LKGTYGRITI AWEADGSISD IFPTSGVILF TEGQVLSTIT
LTILADNIPE LSEVVIVTLT RITTEGVEDS YKGATIDQDR SKSVITTLPN DSPFGLVGWR
AASVFIRVAE PKENTTTLQL QIARDKGLLG DIAIHLRAQP NFLLHVDNQA TENEDYVLQE
TIIIMKENIK EAHAEVSILP DDLPELEEGF IVTITEVNLV NSDFSTGQPS VRRPGMEIAE
IMIEENDDPR GIFMFHVTRG AGEVITAYEV PPPLNVLQVP VVRLAGSFGA VNVYWKASPD
SAGLEDFKPS HGILEFADKQ VTAMIEITII DDAEFELTET FNISLISVAG GGRLGDDVVV
TVVIPQNDSP FGVFGFEEKT VMIDESLSSD DPDSYVTLTV VRSPGGKGTV RLEWTIDEKA
KHNLSPLNGT LHFDETESQK TIVLHTLQDT VLEEDRRFTI QLISIDEVEI SPVKGSASII
IRGDKRASGE VGIAPSSRHI LIGEPSAKYN GTAIISLVRG PGILGEVTVF WRIFPPSVGE
FAETSGKLTM RDEQSAVIVV IQALNDDIPE EKSFYEFQLT AVSEGGVLSE SSSTANITVV
ASDSPYGRFA FSHEQLRVSE AQRVNITIIR SSGDFGHVRL WYKTMSGTAE AGLDFVPAAG
ELLFEAGEMR KSLHVEILDD DYPEGPEEFS LTITKVELQG RGYDFTIQEN GLQIDQPPEI
GNISIVRIII MKNDNAEGII EFDPKYTAFE VEEDVGLIMI PVVRLHGTYG YVTADFISQS
SSASPGGVDY ILHGSTVTFQ HGQNLSFINI SIIDDNESEF EEPIEILLTG ATGGAVLGRH
LVSRIIIAKS DSPFGVIRFL NQSKISIANP NSTMILSLVL ERTGGLLGEI QVNWETVGPN
SQEALLPQNR DIADPVSGLF YFGEGEGGVR TIILTIYPHE EIEVEETFII KLHLVKGEAK
LDSRAKDVTL TIQEFGDPNG VVQFAPETLS KKTYSEPLAL EGPLLITFFV RRVKGTFGEI
MVYWELSSEF DITEDFLSTS GFFTIADGES EASFDVHLLP DEVPEIEEDY VIQLVSVEGG
AELDLEKSIT WFSVYANDDP HGVFALYSDR QSILIGQNLI RSIQINITRL AGTFGDVAVG
LRISSDHKEQ PIVTENAERQ LVVKDGATYK VDVVPIKNQV FLSLGSNFTL QLVTVMLVGG
RFYGMPTILQ EAKSAVLPVS EKAANSQVGF ESTAFQLMNI TAGTSHVMIS RRGTYGALSV
AWTTGYAPGL EIPEFIVVGN MTPTLGSLSF SHGEQRKGVF LWTFPSPGWP EAFVLHLSGV
QSSAPGGAQL RSGFIVAEIE PMGVFQFSTS SRNIIVSEDT QMIRLHVQRL FGFHSDLIKV
SYQTTAGSAK PLEDFEPVQN GELFFQKFQT EVDFEITIIN DQLSEIEEFF YINLTSVEIR
GLQKFDVNWS PRLNLDFSVA VITILDNDDL AGMDISFPET TVAVAVDTTL IPVETESTTY
LSTSKTTTIL QPTNVVAIVT EATGVSAIPE KLVTLHGTPA VSEKPDVATV TANVSIHGTF
SLGPSIVYIE EEMKNGTFNT AEVLIRRTGG FTGNVSITVK TFGERCAQME PNALPFRGIY
GISNLTWAVE EEDFEEQTLT LIFLDGERER KVSVQILDDD EPEGQEFFYV FLTNPQGGAQ
IVEEKDDTGF AAFAMVIITG SDLHNGIIGF SEESQSGLEL REGAVMRRLH LIVTRQPNRA
FEDVKVFWRV TLNKTVVVLQ KDGVNLVEEL QSVSGTTTCT MGQTKCFISI ELKPEKVPQV
EVYFFVELYE ATAGAAINNS ARFAQIKILE SDESQSLVYF SVGSRLAVAH KKATLISLQV
ARDSGTGLMM SVNFSTQELR SAETIGRTII SPAISGKDFV ITEGTLVFEP GQRSTVLDVI
LTPETGSLNS FPKRFQIVLF DPKGGARIDK VYGTANITLV SDADSQAIWG LADQLHQPVN
DDILNRVLHT ISMKVATENT DEQLSAMMHL IEKITTEGKI QAFSVASRTL FYEILCSLIN
PKRKDTRGFS HFAEVTENFA FSLLTNVTCG SPGEKSKTIL DSCPYLSILA LHWYPQQING
HKFEGKEGDY IRIPERLLDV QDAEIMAGKS TCKLVQFTEY SSQQWFISGN NLPTLKNKVL
SLSVKGQSSQ LLTNDNEVLY RIYAAEPRII PQTSLCLLWN QAAASWLSDS QFCKVVEETA
DYVECACSHM SVYAVYARTD NLSSYNEAFF TSGFICISGL CLAVLSHIFC ARYSMFAAKL
LTHMMAASLG TQILFLASAY ASPQLAEESC SAMAAVTHYL YLCQFSWMLI QSVNFWYVLV
MNDEHTERRY LLFFLLSWGL PAFVVILLIV ILKGIYHQSM SQIYGLIHGD LCFIPNVYAA
LFTAALVPLT CLVVVFVVFI HAYQVKPQWK AYDDVFRGRT NAAEIPLILY LFALISVTWL
WGGLHMAYRH FWMLVLFVIF NSLQGLYVFM VYFILHNQMC CPMKASYTVE MNGHPGPSTA
FFTPGSGMPP AGGEISKSTQ NLIGAMEEVP PDWERASFQQ GSQASPDLKP SPQNGATFPS
SGGYGQGSLI ADEESQEFDD LIFALKTGAG LSVSDNESGQ GSQEGGTLTD SQIVELRRIP
IADTHL*
speed 1.75 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Problems