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 ENST00000354958
Genbank transcript ID NM_201379
UniProt peptide Q15149
alteration type single base exchange
alteration region CDS
DNA changes c.7894T>C
cDNA.8043T>C
g.54874T>C
AA changes S2632P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS
2632
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      2632EHSFDGLRRKVSAQRLQEAGILSA
mutated  not conserved    2632EHSFDGLRRKVPAQRLQEAG
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  2673GLSFDGIREKVPASRLFD
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 13578 / 13578
position (AA) of stopcodon in wt / mu AA sequence 4526 / 4526
position of stopcodon in wt / mu cDNA 13727 / 13727
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 150 / 150
chromosome 8
strand -1
last intron/exon boundary 7509
theoretical NMD boundary in CDS 7309
length of CDS 13578
coding sequence (CDS) position 7894
cDNA position
(for ins/del: last normal base / first normal base)
8043
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 MDPSRAIQNE ISSLKDERDR 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 MDPSRAIQNE ISSLKDERDR 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 0.91 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