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 ENST00000436759
Genbank transcript ID NM_000445
UniProt peptide Q15149
alteration type single base exchange
alteration region CDS
DNA changes c.8041T>C
cDNA.8079T>C
g.54874T>C
AA changes S2681P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2681
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      2681EHSFDGLRRKVSAQRLQEAGILSA
mutated  not conserved    2681EHSFDGLRRKVPAQRLQEAGILS
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  2668GLSFDGIREKVPASRLFDIGLLS
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 13725 / 13725
position (AA) of stopcodon in wt / mu AA sequence 4575 / 4575
position of stopcodon in wt / mu cDNA 13763 / 13763
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 39 / 39
chromosome 8
strand -1
last intron/exon boundary 7545
theoretical NMD boundary in CDS 7456
length of CDS 13725
coding sequence (CDS) position 8041
cDNA position
(for ins/del: last normal base / first normal base)		 8079
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 MSGEDAEVRA VSEDVSNGSS GSPSPGDTLP WNLGKTQRSR RSGGGAGSNG SVLDPAERAV
IRIADERDRV QKKTFTKWVN KHLIKAQRHI SDLYEDLRDG HNLISLLEVL SGDSLPREKG
RMRFHKLQNV QIALDYLRHR QVKLVNIRND DIADGNPKLT LGLIWTIILH FQISDIQVSG
QSEDMTAKEK LLLWSQRMVE GYQGLRCDNF TSSWRDGRLF NAIIHRHKPL LIDMNKVYRQ
TNLENLDQAF SVAERDLGVT RLLDPEDVDV PQPDEKSIIT YVSSLYDAMP RVPDVQDGVR
ANELQLRWQE YRELVLLLLQ WMRHHTAAFE ERRFPSSFEE IEILWSQFLK FKEMELPAKE
ADKNRSKGIY QSLEGAVQAG QLKVPPGYHP LDVEKEWGKL HVAILEREKQ LRSEFERLEC
LQRIVTKLQM EAGLCEEQLN QADALLQSDV RLLAAGKVPQ RAGEVERDLD KADSMIRLLF
NDVQTLKDGR HPQGEQMYRR VYRLHERLVA IRTEYNLRLK AGVAAPATQV AQVTLQSVQR
RPELEDSTLR YLQDLLAWVE ENQHRVDGAE WGVDLPSVEA QLGSHRGLHQ SIEEFRAKIE
RARSDEGQLS PATRGAYRDC LGRLDLQYAK LLNSSKARLR SLESLHSFVA AATKELMWLN
EKEEEEVGFD WSDRNTNMTA KKESYSALMR ELELKEKKIK ELQNAGDRLL REDHPARPTV
ESFQAALQTQ WSWMLQLCCC IEAHLKENAA YFQFFSDVRE AEGQLQKLQE ALRRKYSCDR
SATVTRLEDL LQDAQDEKEQ LNEYKGHLSG LAKRAKAVVQ LKPRHPAHPM RGRLPLLAVC
DYKQVEVTVH KGDECQLVGP AQPSHWKVLS SSGSEAAVPS VCFLVPPPNQ EAQEAVTRLE
AQHQALVTLW HQLHVDMKSL LAWQSLRRDV QLIRSWSLAT FRTLKPEEQR QALHSLELHY
QAFLRDSQDA GGFGPEDRLM AEREYGSCSH HYQQLLQSLE QGAQEESRCQ RCISELKDIR
LQLEACETRT VHRLRLPLDK EPARECAQRI AEQQKAQAEV EGLGKGVARL SAEAEKVLAL
PEPSPAAPTL RSELELTLGK LEQVRSLSAI YLEKLKTISL VIRGTQGAEE VLRAHEEQLK
EAQAVPATLP ELEATKASLK KLRAQAEAQQ PTFDALRDEL RGAQEVGERL QQRHGERDVE
VERWRERVAQ LLERWQAVLA QTDVRQRELE QLGRQLRYYR ESADPLGAWL QDARRRQEQI
QAMPLADSQA VREQLRQEQA LLEEIERHGE KVEECQRFAK QYINAIKDYE LQLVTYKAQL
EPVASPAKKP KVQSGSESVI QEYVDLRTHY SELTTLTSQY IKFISETLRR MEEEERLAEQ
QRAEERERLA EVEAALEKQR QLAEAHAQAK AQAEREAKEL QQRMQEEVVR REEAAVDAQQ
QKRSIQEELQ QLRQSSEAEI QAKARQAEAA ERSRLRIEEE IRVVRLQLEA TERQRGGAEG
ELQALRARAE EAEAQKRQAQ EEAERLRRQV QDESQRKRQA EVELASRVKA EAEAAREKQR
ALQALEELRL QAEEAERRLR QAEVERARQV QVALETAQRS AEAELQSKRA SFAEKTAQLE
RSLQEEHVAV AQLREEAERR AQQQAEAERA REEAERELER WQLKANEALR LRLQAEEVAQ
QKSLAQAEAE KQKEEAEREA RRRGKAEEQA VRQRELAEQE LEKQRQLAEG TAQQRLAAEQ
ELIRLRAETE QGEQQRQLLE EELARLQREA AAATQKRQEL EAELAKVRAE MEVLLASKAR
AEEESRSTSE KSKQRLEAEA GRFRELAEEA ARLRALAEEA KRQRQLAEED AARQRAEAER
VLAEKLAAIG EATRLKTEAE IALKEKEAEN ERLRRLAEDE AFQRRRLEEQ AAQHKADIEE
RLAQLRKASD SELERQKGLV EDTLRQRRQV EEEILALKAS FEKAAAGKAE LELELGRIRS
NAEDTLRSKE QAELEAARQR QLAAEEERRR REAEERVQKS LAAEEEAARQ RKAALEEVER
LKAKVEEARR LRERAEQESA RQLQLAQEAA QKRLQAEEKA HAFAVQQKEQ ELQQTLQQEQ
SVLDQLRGEA EAARRAAEEA EEARVQAERE AAQSRRQVEE AERLKQSAEE QAQARAQAQA
AAEKLRKEAE QEAARRAQAE QAALRQKQAA DAEMEKHKKF AEQTLRQKAQ VEQELTTLRL
QLEETDHQKN LLDEELQRLK AEATEAARQR SQVEEELFSV RVQMEELSKL KARIEAENRA
LILRDKDNTQ RFLQEEAEKM KQVAEEAARL SVAAQEAARL RQLAEEDLAQ QRALAEKMLK
EKMQAVQEAT RLKAEAELLQ QQKELAQEQA RRLQEDKEQM AQQLAEETQG FQRTLEAERQ
RQLEMSAEAE RLKLRVAEMS RAQARAEEDA QRFRKQAEEI GEKLHRTELA TQEKVTLVQT
LEIQRQQSDH DAERLREAIA ELEREKEKLQ QEAKLLQLKS EEMQTVQQEQ LLQETQALQQ
SFLSEKDSLL QRERFIEQEK AKLEQLFQDE VAKAQQLREE QQRQQQQMEQ ERQRLVASME
EARRRQHEAE EGVRRKQEEL QQLEQQRRQQ EELLAEENQR LREQLQLLEE QHRAALAHSE
EVTASQVAAT KTLPNGRDAL DGPAAEAEPE HSFDGLRRKV SAQRLQEAGI LSAEELQRLA
QGHTTVDELA RREDVRHYLQ GRSSIAGLLL KATNEKLSVY AALQRQLLSP GTALILLEAQ
AASGFLLDPV RNRRLTVNEA VKEGVVGPEL HHKLLSAERA VTGYKDPYTG QQISLFQAMQ
KGLIVREHGI RLLEAQIATG GVIDPVHSHR VPVDVAYRRG YFDEEMNRVL ADPSDDTKGF
FDPNTHENLT YLQLLERCVE DPETGLCLLP LTDKAAKGGE LVYTDSEARD VFEKATVSAP
FGKFQGKTVT IWEIINSEYF TAEQRRDLLR QFRTGRITVE KIIKIIITVV EEQEQKGRLC
FEGLRSLVPA AELLESRVID RELYQQLQRG ERSVRDVAEV DTVRRALRGA NVIAGVWLEE
AGQKLSIYNA LKKDLLPSDM AVALLEAQAG TGHIIDPATS ARLTVDEAVR AGLVGPEFHE
KLLSAEKAVT GYRDPYTGQS VSLFQALKKG LIPREQGLRL LDAQLSTGGI VDPSKSHRVP
LDVACARGCL DEETSRALSA PRADAKAYSD PSTGEPATYG ELQQRCRPDQ LTGLSLLPLS
EKAARARQEE LYSELQARET FEKTPVEVPV GGFKGRTVTV WELISSEYFT AEQRQELLRQ
FRTGKVTVEK VIKILITIVE EVETLRQERL SFSGLRAPVP ASELLASGVL SRAQFEQLKD
GKTTVKDLSE LGSVRTLLQG SGCLAGIYLE DTKEKVSIYE AMRRGLLRAT TAALLLEAQA
ATGFLVDPVR NQRLYVHEAV KAGVVGPELH EQLLSAEKAV TGYRDPYSGS TISLFQAMQK
GLVLRQHGIR LLEAQIATGG IIDPVHSHRV PVDVAYQRGY FSEEMNRVLA DPSDDTKGFF
DPNTHENLTY RQLLERCVED PETGLRLLPL KGAEKAEVVE TTQVYTEEET RRAFEETQID
IPGGGSHGGS TMSLWEVMQS DLIPEEQRAQ LMADFQAGRV TKERMIIIII EIIEKTEIIR
QQGLASYDYV RRRLTAEDLF EARIISLETY NLLREGTRSL REALEAESAW CYLYGTGSVA
GVYLPGSRQT LSIYQALKKG LLSAEVARLL LEAQAATGFL LDPVKGERLT VDEAVRKGLV
GPELHDRLLS AERAVTGYRD PYTEQTISLF QAMKKELIPT EEALRLLDAQ LATGGIVDPR
LGFHLPLEVA YQRGYLNKDT HDQLSEPSEV RSYVDPSTDE RLSYTQLLRR CRRDDGTGQL
LLPLSDARKL TFRGLRKQIT MEELVRSQVM DEATALQLRE GLTSIEEVTK NLQKFLEGTS
CIAGVFVDAT KERLSVYQAM KKGIIRPGTA FELLEAQAAT GYVIDPIKGL KLTVEEAVRM
GIVGPEFKDK LLSAERAVTG YKDPYSGKLI SLFQAMKKGL ILKDHGIRLL EAQIATGGII
DPEESHRLPV EVAYKRGLFD EEMNEILTDP SDDTKGFFDP NTEENLTYLQ LMERCITDPQ
TGLCLLPLKE KKRERKTSSK SSVRKRRVVI VDPETGKEMS VYEAYRKGLI DHQTYLELSE
QECEWEEITI SSSDGVVKSM IIDRRSGRQY DIDDAIAKNL IDRSALDQYR AGTLSITEFA
DMLSGNAGGF RSRSSSVGSS SSYPISPAVS RTQLASWSDP TEETGPVAGI LDTETLEKVS
ITEAMHRNLV DNITGQRLLE AQACTGGIID PSTGERFPVT DAVNKGLVDK IMVDRINLAQ
KAFCGFEDPR TKTKMSAAQA LKKGWLYYEA GQRFLEVQYL TGGLIEPDTP GRVPLDEALQ
RGTVDARTAQ KLRDVGAYSK YLTCPKTKLK ISYKDALDRS MVEEGTGLRL LEAAAQSTKG
YYSPYSVSGS GSTAGSRTGS RTGSRAGSRR GSFDATGSGF SMTFSSSSYS SSGYGRRYAS
GSSASLGGPE SAVA*
mutated AA sequence MSGEDAEVRA VSEDVSNGSS GSPSPGDTLP WNLGKTQRSR RSGGGAGSNG SVLDPAERAV
IRIADERDRV QKKTFTKWVN KHLIKAQRHI SDLYEDLRDG HNLISLLEVL SGDSLPREKG
RMRFHKLQNV QIALDYLRHR QVKLVNIRND DIADGNPKLT LGLIWTIILH FQISDIQVSG
QSEDMTAKEK LLLWSQRMVE GYQGLRCDNF TSSWRDGRLF NAIIHRHKPL LIDMNKVYRQ
TNLENLDQAF SVAERDLGVT RLLDPEDVDV PQPDEKSIIT YVSSLYDAMP RVPDVQDGVR
ANELQLRWQE YRELVLLLLQ WMRHHTAAFE ERRFPSSFEE IEILWSQFLK FKEMELPAKE
ADKNRSKGIY QSLEGAVQAG QLKVPPGYHP LDVEKEWGKL HVAILEREKQ LRSEFERLEC
LQRIVTKLQM EAGLCEEQLN QADALLQSDV RLLAAGKVPQ RAGEVERDLD KADSMIRLLF
NDVQTLKDGR HPQGEQMYRR VYRLHERLVA IRTEYNLRLK AGVAAPATQV AQVTLQSVQR
RPELEDSTLR YLQDLLAWVE ENQHRVDGAE WGVDLPSVEA QLGSHRGLHQ SIEEFRAKIE
RARSDEGQLS PATRGAYRDC LGRLDLQYAK LLNSSKARLR SLESLHSFVA AATKELMWLN
EKEEEEVGFD WSDRNTNMTA KKESYSALMR ELELKEKKIK ELQNAGDRLL REDHPARPTV
ESFQAALQTQ WSWMLQLCCC IEAHLKENAA YFQFFSDVRE AEGQLQKLQE ALRRKYSCDR
SATVTRLEDL LQDAQDEKEQ LNEYKGHLSG LAKRAKAVVQ LKPRHPAHPM RGRLPLLAVC
DYKQVEVTVH KGDECQLVGP AQPSHWKVLS SSGSEAAVPS VCFLVPPPNQ EAQEAVTRLE
AQHQALVTLW HQLHVDMKSL LAWQSLRRDV QLIRSWSLAT FRTLKPEEQR QALHSLELHY
QAFLRDSQDA GGFGPEDRLM AEREYGSCSH HYQQLLQSLE QGAQEESRCQ RCISELKDIR
LQLEACETRT VHRLRLPLDK EPARECAQRI AEQQKAQAEV EGLGKGVARL SAEAEKVLAL
PEPSPAAPTL RSELELTLGK LEQVRSLSAI YLEKLKTISL VIRGTQGAEE VLRAHEEQLK
EAQAVPATLP ELEATKASLK KLRAQAEAQQ PTFDALRDEL RGAQEVGERL QQRHGERDVE
VERWRERVAQ LLERWQAVLA QTDVRQRELE QLGRQLRYYR ESADPLGAWL QDARRRQEQI
QAMPLADSQA VREQLRQEQA LLEEIERHGE KVEECQRFAK QYINAIKDYE LQLVTYKAQL
EPVASPAKKP KVQSGSESVI QEYVDLRTHY SELTTLTSQY IKFISETLRR MEEEERLAEQ
QRAEERERLA EVEAALEKQR QLAEAHAQAK AQAEREAKEL QQRMQEEVVR REEAAVDAQQ
QKRSIQEELQ QLRQSSEAEI QAKARQAEAA ERSRLRIEEE IRVVRLQLEA TERQRGGAEG
ELQALRARAE EAEAQKRQAQ EEAERLRRQV QDESQRKRQA EVELASRVKA EAEAAREKQR
ALQALEELRL QAEEAERRLR QAEVERARQV QVALETAQRS AEAELQSKRA SFAEKTAQLE
RSLQEEHVAV AQLREEAERR AQQQAEAERA REEAERELER WQLKANEALR LRLQAEEVAQ
QKSLAQAEAE KQKEEAEREA RRRGKAEEQA VRQRELAEQE LEKQRQLAEG TAQQRLAAEQ
ELIRLRAETE QGEQQRQLLE EELARLQREA AAATQKRQEL EAELAKVRAE MEVLLASKAR
AEEESRSTSE KSKQRLEAEA GRFRELAEEA ARLRALAEEA KRQRQLAEED AARQRAEAER
VLAEKLAAIG EATRLKTEAE IALKEKEAEN ERLRRLAEDE AFQRRRLEEQ AAQHKADIEE
RLAQLRKASD SELERQKGLV EDTLRQRRQV EEEILALKAS FEKAAAGKAE LELELGRIRS
NAEDTLRSKE QAELEAARQR QLAAEEERRR REAEERVQKS LAAEEEAARQ RKAALEEVER
LKAKVEEARR LRERAEQESA RQLQLAQEAA QKRLQAEEKA HAFAVQQKEQ ELQQTLQQEQ
SVLDQLRGEA EAARRAAEEA EEARVQAERE AAQSRRQVEE AERLKQSAEE QAQARAQAQA
AAEKLRKEAE QEAARRAQAE QAALRQKQAA DAEMEKHKKF AEQTLRQKAQ VEQELTTLRL
QLEETDHQKN LLDEELQRLK AEATEAARQR SQVEEELFSV RVQMEELSKL KARIEAENRA
LILRDKDNTQ RFLQEEAEKM KQVAEEAARL SVAAQEAARL RQLAEEDLAQ QRALAEKMLK
EKMQAVQEAT RLKAEAELLQ QQKELAQEQA RRLQEDKEQM AQQLAEETQG FQRTLEAERQ
RQLEMSAEAE RLKLRVAEMS RAQARAEEDA QRFRKQAEEI GEKLHRTELA TQEKVTLVQT
LEIQRQQSDH DAERLREAIA ELEREKEKLQ QEAKLLQLKS EEMQTVQQEQ LLQETQALQQ
SFLSEKDSLL QRERFIEQEK AKLEQLFQDE VAKAQQLREE QQRQQQQMEQ ERQRLVASME
EARRRQHEAE EGVRRKQEEL QQLEQQRRQQ EELLAEENQR LREQLQLLEE QHRAALAHSE
EVTASQVAAT KTLPNGRDAL DGPAAEAEPE HSFDGLRRKV PAQRLQEAGI LSAEELQRLA
QGHTTVDELA RREDVRHYLQ GRSSIAGLLL KATNEKLSVY AALQRQLLSP GTALILLEAQ
AASGFLLDPV RNRRLTVNEA VKEGVVGPEL HHKLLSAERA VTGYKDPYTG QQISLFQAMQ
KGLIVREHGI RLLEAQIATG GVIDPVHSHR VPVDVAYRRG YFDEEMNRVL ADPSDDTKGF
FDPNTHENLT YLQLLERCVE DPETGLCLLP LTDKAAKGGE LVYTDSEARD VFEKATVSAP
FGKFQGKTVT IWEIINSEYF TAEQRRDLLR QFRTGRITVE KIIKIIITVV EEQEQKGRLC
FEGLRSLVPA AELLESRVID RELYQQLQRG ERSVRDVAEV DTVRRALRGA NVIAGVWLEE
AGQKLSIYNA LKKDLLPSDM AVALLEAQAG TGHIIDPATS ARLTVDEAVR AGLVGPEFHE
KLLSAEKAVT GYRDPYTGQS VSLFQALKKG LIPREQGLRL LDAQLSTGGI VDPSKSHRVP
LDVACARGCL DEETSRALSA PRADAKAYSD PSTGEPATYG ELQQRCRPDQ LTGLSLLPLS
EKAARARQEE LYSELQARET FEKTPVEVPV GGFKGRTVTV WELISSEYFT AEQRQELLRQ
FRTGKVTVEK VIKILITIVE EVETLRQERL SFSGLRAPVP ASELLASGVL SRAQFEQLKD
GKTTVKDLSE LGSVRTLLQG SGCLAGIYLE DTKEKVSIYE AMRRGLLRAT TAALLLEAQA
ATGFLVDPVR NQRLYVHEAV KAGVVGPELH EQLLSAEKAV TGYRDPYSGS TISLFQAMQK
GLVLRQHGIR LLEAQIATGG IIDPVHSHRV PVDVAYQRGY FSEEMNRVLA DPSDDTKGFF
DPNTHENLTY RQLLERCVED PETGLRLLPL KGAEKAEVVE TTQVYTEEET RRAFEETQID
IPGGGSHGGS TMSLWEVMQS DLIPEEQRAQ LMADFQAGRV TKERMIIIII EIIEKTEIIR
QQGLASYDYV RRRLTAEDLF EARIISLETY NLLREGTRSL REALEAESAW CYLYGTGSVA
GVYLPGSRQT LSIYQALKKG LLSAEVARLL LEAQAATGFL LDPVKGERLT VDEAVRKGLV
GPELHDRLLS AERAVTGYRD PYTEQTISLF QAMKKELIPT EEALRLLDAQ LATGGIVDPR
LGFHLPLEVA YQRGYLNKDT HDQLSEPSEV RSYVDPSTDE RLSYTQLLRR CRRDDGTGQL
LLPLSDARKL TFRGLRKQIT MEELVRSQVM DEATALQLRE GLTSIEEVTK NLQKFLEGTS
CIAGVFVDAT KERLSVYQAM KKGIIRPGTA FELLEAQAAT GYVIDPIKGL KLTVEEAVRM
GIVGPEFKDK LLSAERAVTG YKDPYSGKLI SLFQAMKKGL ILKDHGIRLL EAQIATGGII
DPEESHRLPV EVAYKRGLFD EEMNEILTDP SDDTKGFFDP NTEENLTYLQ LMERCITDPQ
TGLCLLPLKE KKRERKTSSK SSVRKRRVVI VDPETGKEMS VYEAYRKGLI DHQTYLELSE
QECEWEEITI SSSDGVVKSM IIDRRSGRQY DIDDAIAKNL IDRSALDQYR AGTLSITEFA
DMLSGNAGGF RSRSSSVGSS SSYPISPAVS RTQLASWSDP TEETGPVAGI LDTETLEKVS
ITEAMHRNLV DNITGQRLLE AQACTGGIID PSTGERFPVT DAVNKGLVDK IMVDRINLAQ
KAFCGFEDPR TKTKMSAAQA LKKGWLYYEA GQRFLEVQYL TGGLIEPDTP GRVPLDEALQ
RGTVDARTAQ KLRDVGAYSK YLTCPKTKLK ISYKDALDRS MVEEGTGLRL LEAAAQSTKG
YYSPYSVSGS GSTAGSRTGS RTGSRAGSRR GSFDATGSGF SMTFSSSSYS SSGYGRRYAS
GSSASLGGPE SAVA*
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