Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999727159578415 (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) chr8:144996029A>GN/A show variant in all transcripts   IGV
HGNC symbol PLEC
Ensembl transcript ID ENST00000398774
Genbank transcript ID NM_201381
UniProt peptide Q15149
alteration type single base exchange
alteration region CDS
DNA changes c.7864T>C
cDNA.7938T>C
g.54874T>C
AA changes S2622P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2622
frameshift no
known variant Reference ID: rs7833924
databasehomozygous (G/G)heterozygousallele carriers
1000G7368651601
ExAC102891218922478
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)5.030.983
0.6210.98
(flanking)0.0340.978
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased54876wt: 0.7442 / mu: 0.7665 (marginal change - not scored)wt: GTGTCAGCTCAGAGG
mu: GTGCCAGCTCAGAGG		 GTCA|gctc
Donor marginally increased54865wt: 0.9267 / mu: 0.9722 (marginal change - not scored)wt: TGCGGCGGAAGGTGT
mu: TGCGGCGGAAGGTGC		 CGGC|ggaa
Donor gained548780.51mu: GCCAGCTCAGAGGCT CAGC|tcag
distance from splice site 535
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2622EHSFDGLRRKVSAQRLQEAGILSA
mutated  not conserved    2622EHSFDGLRRKVPAQRLQEAGILS
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000000388  2791EHSFDGLRQKVPAQRLQEAGILS
Fcatus  not conserved  ENSFCAG00000001046  3113QLCFEGLRALVPAAELFESGVID
Mmusculus  not conserved  ENSMUSG00000022565  2799EYTFEGLRQKVPAQQLQEAGILS
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000003715  2794PLAFDGIRNKVPASRLHDLGLLP
Drerio  not conserved  ENSDARG00000021987  2669GLSFDGIREKVPASRLFDIGLLS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
14692756COILEDPotential.lost
14712755REGIONCentral fibrous rod domain.lost
27552755MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
27564684REGIONGlobular 2.might get lost (downstream of altered splice site)
28142814MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
28262863REPEATPlectin 1.might get lost (downstream of altered splice site)
28412841MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
28642901REPEATPlectin 2.might get lost (downstream of altered splice site)
29022939REPEATPlectin 3.might get lost (downstream of altered splice site)
29402977REPEATPlectin 4.might get lost (downstream of altered splice site)
29813015REPEATPlectin 5.might get lost (downstream of altered splice site)
30273027CONFLICTK -> E (in Ref. 2; AAB05427/AAB05428).might get lost (downstream of altered splice site)
30333033MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
30913091MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
31163153REPEATPlectin 6.might get lost (downstream of altered splice site)
31543191REPEATPlectin 7.might get lost (downstream of altered splice site)
31923229REPEATPlectin 8.might get lost (downstream of altered splice site)
32303267REPEATPlectin 9.might get lost (downstream of altered splice site)
32683305REPEATPlectin 10.might get lost (downstream of altered splice site)
33063343REPEATPlectin 11.might get lost (downstream of altered splice site)
33103310CONFLICTA -> E (in Ref. 1; CAA91196).might get lost (downstream of altered splice site)
33613361CONFLICTL -> F (in Ref. 1; CAA91196).might get lost (downstream of altered splice site)
33623362MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
34083408CONFLICTL -> F (in Ref. 1; CAA91196).might get lost (downstream of altered splice site)
34203420MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
34473447CONFLICTA -> S (in Ref. 1; CAA91196).might get lost (downstream of altered splice site)
34853522REPEATPlectin 12.might get lost (downstream of altered splice site)
35233560REPEATPlectin 13.might get lost (downstream of altered splice site)
35313531CONFLICTA -> G (in Ref. 1; CAA91196).might get lost (downstream of altered splice site)
35613598REPEATPlectin 14.might get lost (downstream of altered splice site)
35803580CONFLICTS -> R (in Ref. 1; CAA91196).might get lost (downstream of altered splice site)
35893589CONFLICTQ -> K (in Ref. 1; CAA91196).might get lost (downstream of altered splice site)
35963596CONFLICTQ -> E (in Ref. 1; CAA91196).might get lost (downstream of altered splice site)
35993636REPEATPlectin 15.might get lost (downstream of altered splice site)
36163616CONFLICTH -> N (in Ref. 1; CAA91196).might get lost (downstream of altered splice site)
36403674REPEATPlectin 16.might get lost (downstream of altered splice site)
36863686CONFLICTA -> V (in Ref. 1; CAA91196).might get lost (downstream of altered splice site)
37863786CONFLICTA -> G (in Ref. 1; CAA91196).might get lost (downstream of altered splice site)
38083808CONFLICTR -> K (in Ref. 1; CAA91196).might get lost (downstream of altered splice site)
38163816CONFLICTA -> G (in Ref. 1; CAA91196).might get lost (downstream of altered splice site)
38203857REPEATPlectin 17.might get lost (downstream of altered splice site)
38213821CONFLICTC -> F (in Ref. 1; CAA91196).might get lost (downstream of altered splice site)
38583895REPEATPlectin 18.might get lost (downstream of altered splice site)
38963933REPEATPlectin 19.might get lost (downstream of altered splice site)
39153915CONFLICTQ -> K (in Ref. 1; CAA91196).might get lost (downstream of altered splice site)
39343971REPEATPlectin 20.might get lost (downstream of altered splice site)
39754008REPEATPlectin 21.might get lost (downstream of altered splice site)
39993999CONFLICTR -> K (in Ref. 1; CAA91196).might get lost (downstream of altered splice site)
40074007CONFLICTT -> S (in Ref. 1; CAA91196).might get lost (downstream of altered splice site)
40304030MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
40634100REPEATPlectin 22.might get lost (downstream of altered splice site)
41014138REPEATPlectin 23.might get lost (downstream of altered splice site)
41394176REPEATPlectin 24.might get lost (downstream of altered splice site)
41554155MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
41774214REPEATPlectin 25.might get lost (downstream of altered splice site)
42184252REPEATPlectin 26.might get lost (downstream of altered splice site)
42504300REGIONBinding to intermediate filaments (By similarity).might get lost (downstream of altered splice site)
42654305REPEATPlectin 27.might get lost (downstream of altered splice site)
43194356REPEATPlectin 28.might get lost (downstream of altered splice site)
43824382MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
43844384MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
43854385MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
43864386MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
43894389MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
43904390MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
43914391MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
43924392MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
43934393MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
43964396MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
44004400MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
44024402MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
44084445REPEATPlectin 29.might get lost (downstream of altered splice site)
44114411MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
44464483REPEATPlectin 30.might get lost (downstream of altered splice site)
44674467CONFLICTF -> L (in Ref. 1; CAA91196).might get lost (downstream of altered splice site)
44844521REPEATPlectin 31.might get lost (downstream of altered splice site)
45224559REPEATPlectin 32.might get lost (downstream of altered splice site)
45394539MOD_RESPhosphothreonine; by CDK1 (By similarity).might get lost (downstream of altered splice site)
45604597REPEATPlectin 33.might get lost (downstream of altered splice site)
46114611MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
46134613MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
46154615MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
46184618MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
46204620MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
46224622MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
46234623MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
46254640REGION4 X 4 AA tandem repeats of G-S-R-X.might get lost (downstream of altered splice site)
46264626MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
46284628MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
46424642MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
46584658MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
46754675MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 13548 / 13548
position (AA) of stopcodon in wt / mu AA sequence 4516 / 4516
position of stopcodon in wt / mu cDNA 13622 / 13622
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 75 / 75
chromosome 8
strand -1
last intron/exon boundary 7404
theoretical NMD boundary in CDS 7279
length of CDS 13548
coding sequence (CDS) position 7864
cDNA position
(for ins/del: last normal base / first normal base)		 7938
gDNA position
(for ins/del: last normal base / first normal base)		 54874
chromosomal position
(for ins/del: last normal base / first normal base)		 144996029
original gDNA sequence snippet ATGGCCTGCGGCGGAAGGTGTCAGCTCAGAGGCTGCAGGAG
altered gDNA sequence snippet ATGGCCTGCGGCGGAAGGTGCCAGCTCAGAGGCTGCAGGAG
original cDNA sequence snippet ATGGCCTGCGGCGGAAGGTGTCAGCTCAGAGGCTGCAGGAG
altered cDNA sequence snippet ATGGCCTGCGGCGGAAGGTGCCAGCTCAGAGGCTGCAGGAG
wildtype AA sequence MKIVPDERDR VQKKTFTKWV NKHLIKAQRH ISDLYEDLRD GHNLISLLEV LSGDSLPREK
GRMRFHKLQN VQIALDYLRH RQVKLVNIRN DDIADGNPKL TLGLIWTIIL HFQISDIQVS
GQSEDMTAKE KLLLWSQRMV EGYQGLRCDN FTSSWRDGRL FNAIIHRHKP LLIDMNKVYR
QTNLENLDQA FSVAERDLGV TRLLDPEDVD VPQPDEKSII TYVSSLYDAM PRVPDVQDGV
RANELQLRWQ EYRELVLLLL QWMRHHTAAF EERRFPSSFE EIEILWSQFL KFKEMELPAK
EADKNRSKGI YQSLEGAVQA GQLKVPPGYH PLDVEKEWGK LHVAILEREK QLRSEFERLE
CLQRIVTKLQ MEAGLCEEQL NQADALLQSD VRLLAAGKVP QRAGEVERDL DKADSMIRLL
FNDVQTLKDG RHPQGEQMYR RVYRLHERLV AIRTEYNLRL KAGVAAPATQ VAQVTLQSVQ
RRPELEDSTL RYLQDLLAWV EENQHRVDGA EWGVDLPSVE AQLGSHRGLH QSIEEFRAKI
ERARSDEGQL SPATRGAYRD CLGRLDLQYA KLLNSSKARL RSLESLHSFV AAATKELMWL
NEKEEEEVGF DWSDRNTNMT AKKESYSALM RELELKEKKI KELQNAGDRL LREDHPARPT
VESFQAALQT QWSWMLQLCC CIEAHLKENA AYFQFFSDVR EAEGQLQKLQ EALRRKYSCD
RSATVTRLED LLQDAQDEKE QLNEYKGHLS GLAKRAKAVV QLKPRHPAHP MRGRLPLLAV
CDYKQVEVTV HKGDECQLVG PAQPSHWKVL SSSGSEAAVP SVCFLVPPPN QEAQEAVTRL
EAQHQALVTL WHQLHVDMKS LLAWQSLRRD VQLIRSWSLA TFRTLKPEEQ RQALHSLELH
YQAFLRDSQD AGGFGPEDRL MAEREYGSCS HHYQQLLQSL EQGAQEESRC QRCISELKDI
RLQLEACETR TVHRLRLPLD KEPARECAQR IAEQQKAQAE VEGLGKGVAR LSAEAEKVLA
LPEPSPAAPT LRSELELTLG KLEQVRSLSA IYLEKLKTIS LVIRGTQGAE EVLRAHEEQL
KEAQAVPATL PELEATKASL KKLRAQAEAQ QPTFDALRDE LRGAQEVGER LQQRHGERDV
EVERWRERVA QLLERWQAVL AQTDVRQREL EQLGRQLRYY RESADPLGAW LQDARRRQEQ
IQAMPLADSQ AVREQLRQEQ ALLEEIERHG EKVEECQRFA KQYINAIKDY ELQLVTYKAQ
LEPVASPAKK PKVQSGSESV IQEYVDLRTH YSELTTLTSQ YIKFISETLR RMEEEERLAE
QQRAEERERL AEVEAALEKQ RQLAEAHAQA KAQAEREAKE LQQRMQEEVV RREEAAVDAQ
QQKRSIQEEL QQLRQSSEAE IQAKARQAEA AERSRLRIEE EIRVVRLQLE ATERQRGGAE
GELQALRARA EEAEAQKRQA QEEAERLRRQ VQDESQRKRQ AEVELASRVK AEAEAAREKQ
RALQALEELR LQAEEAERRL RQAEVERARQ VQVALETAQR SAEAELQSKR ASFAEKTAQL
ERSLQEEHVA VAQLREEAER RAQQQAEAER AREEAERELE RWQLKANEAL RLRLQAEEVA
QQKSLAQAEA EKQKEEAERE ARRRGKAEEQ AVRQRELAEQ ELEKQRQLAE GTAQQRLAAE
QELIRLRAET EQGEQQRQLL EEELARLQRE AAAATQKRQE LEAELAKVRA EMEVLLASKA
RAEEESRSTS EKSKQRLEAE AGRFRELAEE AARLRALAEE AKRQRQLAEE DAARQRAEAE
RVLAEKLAAI GEATRLKTEA EIALKEKEAE NERLRRLAED EAFQRRRLEE QAAQHKADIE
ERLAQLRKAS DSELERQKGL VEDTLRQRRQ VEEEILALKA SFEKAAAGKA ELELELGRIR
SNAEDTLRSK EQAELEAARQ RQLAAEEERR RREAEERVQK SLAAEEEAAR QRKAALEEVE
RLKAKVEEAR RLRERAEQES ARQLQLAQEA AQKRLQAEEK AHAFAVQQKE QELQQTLQQE
QSVLDQLRGE AEAARRAAEE AEEARVQAER EAAQSRRQVE EAERLKQSAE EQAQARAQAQ
AAAEKLRKEA EQEAARRAQA EQAALRQKQA ADAEMEKHKK FAEQTLRQKA QVEQELTTLR
LQLEETDHQK NLLDEELQRL KAEATEAARQ RSQVEEELFS VRVQMEELSK LKARIEAENR
ALILRDKDNT QRFLQEEAEK MKQVAEEAAR LSVAAQEAAR LRQLAEEDLA QQRALAEKML
KEKMQAVQEA TRLKAEAELL QQQKELAQEQ ARRLQEDKEQ MAQQLAEETQ GFQRTLEAER
QRQLEMSAEA ERLKLRVAEM SRAQARAEED AQRFRKQAEE IGEKLHRTEL ATQEKVTLVQ
TLEIQRQQSD HDAERLREAI AELEREKEKL QQEAKLLQLK SEEMQTVQQE QLLQETQALQ
QSFLSEKDSL LQRERFIEQE KAKLEQLFQD EVAKAQQLRE EQQRQQQQME QERQRLVASM
EEARRRQHEA EEGVRRKQEE LQQLEQQRRQ QEELLAEENQ RLREQLQLLE EQHRAALAHS
EEVTASQVAA TKTLPNGRDA LDGPAAEAEP EHSFDGLRRK VSAQRLQEAG ILSAEELQRL
AQGHTTVDEL ARREDVRHYL QGRSSIAGLL LKATNEKLSV YAALQRQLLS PGTALILLEA
QAASGFLLDP VRNRRLTVNE AVKEGVVGPE LHHKLLSAER AVTGYKDPYT GQQISLFQAM
QKGLIVREHG IRLLEAQIAT GGVIDPVHSH RVPVDVAYRR GYFDEEMNRV LADPSDDTKG
FFDPNTHENL TYLQLLERCV EDPETGLCLL PLTDKAAKGG ELVYTDSEAR DVFEKATVSA
PFGKFQGKTV TIWEIINSEY FTAEQRRDLL RQFRTGRITV EKIIKIIITV VEEQEQKGRL
CFEGLRSLVP AAELLESRVI DRELYQQLQR GERSVRDVAE VDTVRRALRG ANVIAGVWLE
EAGQKLSIYN ALKKDLLPSD MAVALLEAQA GTGHIIDPAT SARLTVDEAV RAGLVGPEFH
EKLLSAEKAV TGYRDPYTGQ SVSLFQALKK GLIPREQGLR LLDAQLSTGG IVDPSKSHRV
PLDVACARGC LDEETSRALS APRADAKAYS DPSTGEPATY GELQQRCRPD QLTGLSLLPL
SEKAARARQE ELYSELQARE TFEKTPVEVP VGGFKGRTVT VWELISSEYF TAEQRQELLR
QFRTGKVTVE KVIKILITIV EEVETLRQER LSFSGLRAPV PASELLASGV LSRAQFEQLK
DGKTTVKDLS ELGSVRTLLQ GSGCLAGIYL EDTKEKVSIY EAMRRGLLRA TTAALLLEAQ
AATGFLVDPV RNQRLYVHEA VKAGVVGPEL HEQLLSAEKA VTGYRDPYSG STISLFQAMQ
KGLVLRQHGI RLLEAQIATG GIIDPVHSHR VPVDVAYQRG YFSEEMNRVL ADPSDDTKGF
FDPNTHENLT YRQLLERCVE DPETGLRLLP LKGAEKAEVV ETTQVYTEEE TRRAFEETQI
DIPGGGSHGG STMSLWEVMQ SDLIPEEQRA QLMADFQAGR VTKERMIIII IEIIEKTEII
RQQGLASYDY VRRRLTAEDL FEARIISLET YNLLREGTRS LREALEAESA WCYLYGTGSV
AGVYLPGSRQ TLSIYQALKK GLLSAEVARL LLEAQAATGF LLDPVKGERL TVDEAVRKGL
VGPELHDRLL SAERAVTGYR DPYTEQTISL FQAMKKELIP TEEALRLLDA QLATGGIVDP
RLGFHLPLEV AYQRGYLNKD THDQLSEPSE VRSYVDPSTD ERLSYTQLLR RCRRDDGTGQ
LLLPLSDARK LTFRGLRKQI TMEELVRSQV MDEATALQLR EGLTSIEEVT KNLQKFLEGT
SCIAGVFVDA TKERLSVYQA MKKGIIRPGT AFELLEAQAA TGYVIDPIKG LKLTVEEAVR
MGIVGPEFKD KLLSAERAVT GYKDPYSGKL ISLFQAMKKG LILKDHGIRL LEAQIATGGI
IDPEESHRLP VEVAYKRGLF DEEMNEILTD PSDDTKGFFD PNTEENLTYL QLMERCITDP
QTGLCLLPLK EKKRERKTSS KSSVRKRRVV IVDPETGKEM SVYEAYRKGL IDHQTYLELS
EQECEWEEIT ISSSDGVVKS MIIDRRSGRQ YDIDDAIAKN LIDRSALDQY RAGTLSITEF
ADMLSGNAGG FRSRSSSVGS SSSYPISPAV SRTQLASWSD PTEETGPVAG ILDTETLEKV
SITEAMHRNL VDNITGQRLL EAQACTGGII DPSTGERFPV TDAVNKGLVD KIMVDRINLA
QKAFCGFEDP RTKTKMSAAQ ALKKGWLYYE AGQRFLEVQY LTGGLIEPDT PGRVPLDEAL
QRGTVDARTA QKLRDVGAYS KYLTCPKTKL KISYKDALDR SMVEEGTGLR LLEAAAQSTK
GYYSPYSVSG SGSTAGSRTG SRTGSRAGSR RGSFDATGSG FSMTFSSSSY SSSGYGRRYA
SGSSASLGGP ESAVA*
mutated AA sequence MKIVPDERDR VQKKTFTKWV NKHLIKAQRH ISDLYEDLRD GHNLISLLEV LSGDSLPREK
GRMRFHKLQN VQIALDYLRH RQVKLVNIRN DDIADGNPKL TLGLIWTIIL HFQISDIQVS
GQSEDMTAKE KLLLWSQRMV EGYQGLRCDN FTSSWRDGRL FNAIIHRHKP LLIDMNKVYR
QTNLENLDQA FSVAERDLGV TRLLDPEDVD VPQPDEKSII TYVSSLYDAM PRVPDVQDGV
RANELQLRWQ EYRELVLLLL QWMRHHTAAF EERRFPSSFE EIEILWSQFL KFKEMELPAK
EADKNRSKGI YQSLEGAVQA GQLKVPPGYH PLDVEKEWGK LHVAILEREK QLRSEFERLE
CLQRIVTKLQ MEAGLCEEQL NQADALLQSD VRLLAAGKVP QRAGEVERDL DKADSMIRLL
FNDVQTLKDG RHPQGEQMYR RVYRLHERLV AIRTEYNLRL KAGVAAPATQ VAQVTLQSVQ
RRPELEDSTL RYLQDLLAWV EENQHRVDGA EWGVDLPSVE AQLGSHRGLH QSIEEFRAKI
ERARSDEGQL SPATRGAYRD CLGRLDLQYA KLLNSSKARL RSLESLHSFV AAATKELMWL
NEKEEEEVGF DWSDRNTNMT AKKESYSALM RELELKEKKI KELQNAGDRL LREDHPARPT
VESFQAALQT QWSWMLQLCC CIEAHLKENA AYFQFFSDVR EAEGQLQKLQ EALRRKYSCD
RSATVTRLED LLQDAQDEKE QLNEYKGHLS GLAKRAKAVV QLKPRHPAHP MRGRLPLLAV
CDYKQVEVTV HKGDECQLVG PAQPSHWKVL SSSGSEAAVP SVCFLVPPPN QEAQEAVTRL
EAQHQALVTL WHQLHVDMKS LLAWQSLRRD VQLIRSWSLA TFRTLKPEEQ RQALHSLELH
YQAFLRDSQD AGGFGPEDRL MAEREYGSCS HHYQQLLQSL EQGAQEESRC QRCISELKDI
RLQLEACETR TVHRLRLPLD KEPARECAQR IAEQQKAQAE VEGLGKGVAR LSAEAEKVLA
LPEPSPAAPT LRSELELTLG KLEQVRSLSA IYLEKLKTIS LVIRGTQGAE EVLRAHEEQL
KEAQAVPATL PELEATKASL KKLRAQAEAQ QPTFDALRDE LRGAQEVGER LQQRHGERDV
EVERWRERVA QLLERWQAVL AQTDVRQREL EQLGRQLRYY RESADPLGAW LQDARRRQEQ
IQAMPLADSQ AVREQLRQEQ ALLEEIERHG EKVEECQRFA KQYINAIKDY ELQLVTYKAQ
LEPVASPAKK PKVQSGSESV IQEYVDLRTH YSELTTLTSQ YIKFISETLR RMEEEERLAE
QQRAEERERL AEVEAALEKQ RQLAEAHAQA KAQAEREAKE LQQRMQEEVV RREEAAVDAQ
QQKRSIQEEL QQLRQSSEAE IQAKARQAEA AERSRLRIEE EIRVVRLQLE ATERQRGGAE
GELQALRARA EEAEAQKRQA QEEAERLRRQ VQDESQRKRQ AEVELASRVK AEAEAAREKQ
RALQALEELR LQAEEAERRL RQAEVERARQ VQVALETAQR SAEAELQSKR ASFAEKTAQL
ERSLQEEHVA VAQLREEAER RAQQQAEAER AREEAERELE RWQLKANEAL RLRLQAEEVA
QQKSLAQAEA EKQKEEAERE ARRRGKAEEQ AVRQRELAEQ ELEKQRQLAE GTAQQRLAAE
QELIRLRAET EQGEQQRQLL EEELARLQRE AAAATQKRQE LEAELAKVRA EMEVLLASKA
RAEEESRSTS EKSKQRLEAE AGRFRELAEE AARLRALAEE AKRQRQLAEE DAARQRAEAE
RVLAEKLAAI GEATRLKTEA EIALKEKEAE NERLRRLAED EAFQRRRLEE QAAQHKADIE
ERLAQLRKAS DSELERQKGL VEDTLRQRRQ VEEEILALKA SFEKAAAGKA ELELELGRIR
SNAEDTLRSK EQAELEAARQ RQLAAEEERR RREAEERVQK SLAAEEEAAR QRKAALEEVE
RLKAKVEEAR RLRERAEQES ARQLQLAQEA AQKRLQAEEK AHAFAVQQKE QELQQTLQQE
QSVLDQLRGE AEAARRAAEE AEEARVQAER EAAQSRRQVE EAERLKQSAE EQAQARAQAQ
AAAEKLRKEA EQEAARRAQA EQAALRQKQA ADAEMEKHKK FAEQTLRQKA QVEQELTTLR
LQLEETDHQK NLLDEELQRL KAEATEAARQ RSQVEEELFS VRVQMEELSK LKARIEAENR
ALILRDKDNT QRFLQEEAEK MKQVAEEAAR LSVAAQEAAR LRQLAEEDLA QQRALAEKML
KEKMQAVQEA TRLKAEAELL QQQKELAQEQ ARRLQEDKEQ MAQQLAEETQ GFQRTLEAER
QRQLEMSAEA ERLKLRVAEM SRAQARAEED AQRFRKQAEE IGEKLHRTEL ATQEKVTLVQ
TLEIQRQQSD HDAERLREAI AELEREKEKL QQEAKLLQLK SEEMQTVQQE QLLQETQALQ
QSFLSEKDSL LQRERFIEQE KAKLEQLFQD EVAKAQQLRE EQQRQQQQME QERQRLVASM
EEARRRQHEA EEGVRRKQEE LQQLEQQRRQ QEELLAEENQ RLREQLQLLE EQHRAALAHS
EEVTASQVAA TKTLPNGRDA LDGPAAEAEP EHSFDGLRRK VPAQRLQEAG ILSAEELQRL
AQGHTTVDEL ARREDVRHYL QGRSSIAGLL LKATNEKLSV YAALQRQLLS PGTALILLEA
QAASGFLLDP VRNRRLTVNE AVKEGVVGPE LHHKLLSAER AVTGYKDPYT GQQISLFQAM
QKGLIVREHG IRLLEAQIAT GGVIDPVHSH RVPVDVAYRR GYFDEEMNRV LADPSDDTKG
FFDPNTHENL TYLQLLERCV EDPETGLCLL PLTDKAAKGG ELVYTDSEAR DVFEKATVSA
PFGKFQGKTV TIWEIINSEY FTAEQRRDLL RQFRTGRITV EKIIKIIITV VEEQEQKGRL
CFEGLRSLVP AAELLESRVI DRELYQQLQR GERSVRDVAE VDTVRRALRG ANVIAGVWLE
EAGQKLSIYN ALKKDLLPSD MAVALLEAQA GTGHIIDPAT SARLTVDEAV RAGLVGPEFH
EKLLSAEKAV TGYRDPYTGQ SVSLFQALKK GLIPREQGLR LLDAQLSTGG IVDPSKSHRV
PLDVACARGC LDEETSRALS APRADAKAYS DPSTGEPATY GELQQRCRPD QLTGLSLLPL
SEKAARARQE ELYSELQARE TFEKTPVEVP VGGFKGRTVT VWELISSEYF TAEQRQELLR
QFRTGKVTVE KVIKILITIV EEVETLRQER LSFSGLRAPV PASELLASGV LSRAQFEQLK
DGKTTVKDLS ELGSVRTLLQ GSGCLAGIYL EDTKEKVSIY EAMRRGLLRA TTAALLLEAQ
AATGFLVDPV RNQRLYVHEA VKAGVVGPEL HEQLLSAEKA VTGYRDPYSG STISLFQAMQ
KGLVLRQHGI RLLEAQIATG GIIDPVHSHR VPVDVAYQRG YFSEEMNRVL ADPSDDTKGF
FDPNTHENLT YRQLLERCVE DPETGLRLLP LKGAEKAEVV ETTQVYTEEE TRRAFEETQI
DIPGGGSHGG STMSLWEVMQ SDLIPEEQRA QLMADFQAGR VTKERMIIII IEIIEKTEII
RQQGLASYDY VRRRLTAEDL FEARIISLET YNLLREGTRS LREALEAESA WCYLYGTGSV
AGVYLPGSRQ TLSIYQALKK GLLSAEVARL LLEAQAATGF LLDPVKGERL TVDEAVRKGL
VGPELHDRLL SAERAVTGYR DPYTEQTISL FQAMKKELIP TEEALRLLDA QLATGGIVDP
RLGFHLPLEV AYQRGYLNKD THDQLSEPSE VRSYVDPSTD ERLSYTQLLR RCRRDDGTGQ
LLLPLSDARK LTFRGLRKQI TMEELVRSQV MDEATALQLR EGLTSIEEVT KNLQKFLEGT
SCIAGVFVDA TKERLSVYQA MKKGIIRPGT AFELLEAQAA TGYVIDPIKG LKLTVEEAVR
MGIVGPEFKD KLLSAERAVT GYKDPYSGKL ISLFQAMKKG LILKDHGIRL LEAQIATGGI
IDPEESHRLP VEVAYKRGLF DEEMNEILTD PSDDTKGFFD PNTEENLTYL QLMERCITDP
QTGLCLLPLK EKKRERKTSS KSSVRKRRVV IVDPETGKEM SVYEAYRKGL IDHQTYLELS
EQECEWEEIT ISSSDGVVKS MIIDRRSGRQ YDIDDAIAKN LIDRSALDQY RAGTLSITEF
ADMLSGNAGG FRSRSSSVGS SSSYPISPAV SRTQLASWSD PTEETGPVAG ILDTETLEKV
SITEAMHRNL VDNITGQRLL EAQACTGGII DPSTGERFPV TDAVNKGLVD KIMVDRINLA
QKAFCGFEDP RTKTKMSAAQ ALKKGWLYYE AGQRFLEVQY LTGGLIEPDT PGRVPLDEAL
QRGTVDARTA QKLRDVGAYS KYLTCPKTKL KISYKDALDR SMVEEGTGLR LLEAAAQSTK
GYYSPYSVSG SGSTAGSRTG SRTGSRAGSR RGSFDATGSG FSMTFSSSSY SSSGYGRRYA
SGSSASLGGP ESAVA*
speed 0.90 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