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 ENST00000354589
Genbank transcript ID NM_201382
UniProt peptide Q15149
alteration type single base exchange
alteration region CDS
DNA changes c.7960T>C
cDNA.8028T>C
g.54874T>C
AA changes S2654P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2654
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      2654EHSFDGLRRKVSAQRLQEAGILSA
mutated  not conserved    2654EHSFDGLRRKVPAQRLQEAGILS
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 13644 / 13644
position (AA) of stopcodon in wt / mu AA sequence 4548 / 4548
position of stopcodon in wt / mu cDNA 13712 / 13712
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 69 / 69
chromosome 8
strand -1
last intron/exon boundary 7494
theoretical NMD boundary in CDS 7375
length of CDS 13644
coding sequence (CDS) position 7960
cDNA position
(for ins/del: last normal base / first normal base)		 8028
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 MEPSGSLFPS LVVVGHVVTL AAVWHWRRGR RWAQDEQDER DRVQKKTFTK WVNKHLIKAQ
RHISDLYEDL RDGHNLISLL EVLSGDSLPR EKGRMRFHKL QNVQIALDYL RHRQVKLVNI
RNDDIADGNP KLTLGLIWTI ILHFQISDIQ VSGQSEDMTA KEKLLLWSQR MVEGYQGLRC
DNFTSSWRDG RLFNAIIHRH KPLLIDMNKV YRQTNLENLD QAFSVAERDL GVTRLLDPED
VDVPQPDEKS IITYVSSLYD AMPRVPDVQD GVRANELQLR WQEYRELVLL LLQWMRHHTA
AFEERRFPSS FEEIEILWSQ FLKFKEMELP AKEADKNRSK GIYQSLEGAV QAGQLKVPPG
YHPLDVEKEW GKLHVAILER EKQLRSEFER LECLQRIVTK LQMEAGLCEE QLNQADALLQ
SDVRLLAAGK VPQRAGEVER DLDKADSMIR LLFNDVQTLK DGRHPQGEQM YRRVYRLHER
LVAIRTEYNL RLKAGVAAPA TQVAQVTLQS VQRRPELEDS TLRYLQDLLA WVEENQHRVD
GAEWGVDLPS VEAQLGSHRG LHQSIEEFRA KIERARSDEG QLSPATRGAY RDCLGRLDLQ
YAKLLNSSKA RLRSLESLHS FVAAATKELM WLNEKEEEEV GFDWSDRNTN MTAKKESYSA
LMRELELKEK KIKELQNAGD RLLREDHPAR PTVESFQAAL QTQWSWMLQL CCCIEAHLKE
NAAYFQFFSD VREAEGQLQK LQEALRRKYS CDRSATVTRL EDLLQDAQDE KEQLNEYKGH
LSGLAKRAKA VVQLKPRHPA HPMRGRLPLL AVCDYKQVEV TVHKGDECQL VGPAQPSHWK
VLSSSGSEAA VPSVCFLVPP PNQEAQEAVT RLEAQHQALV TLWHQLHVDM KSLLAWQSLR
RDVQLIRSWS LATFRTLKPE EQRQALHSLE LHYQAFLRDS QDAGGFGPED RLMAEREYGS
CSHHYQQLLQ SLEQGAQEES RCQRCISELK DIRLQLEACE TRTVHRLRLP LDKEPARECA
QRIAEQQKAQ AEVEGLGKGV ARLSAEAEKV LALPEPSPAA PTLRSELELT LGKLEQVRSL
SAIYLEKLKT ISLVIRGTQG AEEVLRAHEE QLKEAQAVPA TLPELEATKA SLKKLRAQAE
AQQPTFDALR DELRGAQEVG ERLQQRHGER DVEVERWRER VAQLLERWQA VLAQTDVRQR
ELEQLGRQLR YYRESADPLG AWLQDARRRQ EQIQAMPLAD SQAVREQLRQ EQALLEEIER
HGEKVEECQR FAKQYINAIK DYELQLVTYK AQLEPVASPA KKPKVQSGSE SVIQEYVDLR
THYSELTTLT SQYIKFISET LRRMEEEERL AEQQRAEERE RLAEVEAALE KQRQLAEAHA
QAKAQAEREA KELQQRMQEE VVRREEAAVD AQQQKRSIQE ELQQLRQSSE AEIQAKARQA
EAAERSRLRI EEEIRVVRLQ LEATERQRGG AEGELQALRA RAEEAEAQKR QAQEEAERLR
RQVQDESQRK RQAEVELASR VKAEAEAARE KQRALQALEE LRLQAEEAER RLRQAEVERA
RQVQVALETA QRSAEAELQS KRASFAEKTA QLERSLQEEH VAVAQLREEA ERRAQQQAEA
ERAREEAERE LERWQLKANE ALRLRLQAEE VAQQKSLAQA EAEKQKEEAE REARRRGKAE
EQAVRQRELA EQELEKQRQL AEGTAQQRLA AEQELIRLRA ETEQGEQQRQ LLEEELARLQ
REAAAATQKR QELEAELAKV RAEMEVLLAS KARAEEESRS TSEKSKQRLE AEAGRFRELA
EEAARLRALA EEAKRQRQLA EEDAARQRAE AERVLAEKLA AIGEATRLKT EAEIALKEKE
AENERLRRLA EDEAFQRRRL EEQAAQHKAD IEERLAQLRK ASDSELERQK GLVEDTLRQR
RQVEEEILAL KASFEKAAAG KAELELELGR IRSNAEDTLR SKEQAELEAA RQRQLAAEEE
RRRREAEERV QKSLAAEEEA ARQRKAALEE VERLKAKVEE ARRLRERAEQ ESARQLQLAQ
EAAQKRLQAE EKAHAFAVQQ KEQELQQTLQ QEQSVLDQLR GEAEAARRAA EEAEEARVQA
EREAAQSRRQ VEEAERLKQS AEEQAQARAQ AQAAAEKLRK EAEQEAARRA QAEQAALRQK
QAADAEMEKH KKFAEQTLRQ KAQVEQELTT LRLQLEETDH QKNLLDEELQ RLKAEATEAA
RQRSQVEEEL FSVRVQMEEL SKLKARIEAE NRALILRDKD NTQRFLQEEA EKMKQVAEEA
ARLSVAAQEA ARLRQLAEED LAQQRALAEK MLKEKMQAVQ EATRLKAEAE LLQQQKELAQ
EQARRLQEDK EQMAQQLAEE TQGFQRTLEA ERQRQLEMSA EAERLKLRVA EMSRAQARAE
EDAQRFRKQA EEIGEKLHRT ELATQEKVTL VQTLEIQRQQ SDHDAERLRE AIAELEREKE
KLQQEAKLLQ LKSEEMQTVQ QEQLLQETQA LQQSFLSEKD SLLQRERFIE QEKAKLEQLF
QDEVAKAQQL REEQQRQQQQ MEQERQRLVA SMEEARRRQH EAEEGVRRKQ EELQQLEQQR
RQQEELLAEE NQRLREQLQL LEEQHRAALA HSEEVTASQV AATKTLPNGR DALDGPAAEA
EPEHSFDGLR RKVSAQRLQE AGILSAEELQ RLAQGHTTVD ELARREDVRH YLQGRSSIAG
LLLKATNEKL SVYAALQRQL LSPGTALILL EAQAASGFLL DPVRNRRLTV NEAVKEGVVG
PELHHKLLSA ERAVTGYKDP YTGQQISLFQ AMQKGLIVRE HGIRLLEAQI ATGGVIDPVH
SHRVPVDVAY RRGYFDEEMN RVLADPSDDT KGFFDPNTHE NLTYLQLLER CVEDPETGLC
LLPLTDKAAK GGELVYTDSE ARDVFEKATV SAPFGKFQGK TVTIWEIINS EYFTAEQRRD
LLRQFRTGRI TVEKIIKIII TVVEEQEQKG RLCFEGLRSL VPAAELLESR VIDRELYQQL
QRGERSVRDV AEVDTVRRAL RGANVIAGVW LEEAGQKLSI YNALKKDLLP SDMAVALLEA
QAGTGHIIDP ATSARLTVDE AVRAGLVGPE FHEKLLSAEK AVTGYRDPYT GQSVSLFQAL
KKGLIPREQG LRLLDAQLST GGIVDPSKSH RVPLDVACAR GCLDEETSRA LSAPRADAKA
YSDPSTGEPA TYGELQQRCR PDQLTGLSLL PLSEKAARAR QEELYSELQA RETFEKTPVE
VPVGGFKGRT VTVWELISSE YFTAEQRQEL LRQFRTGKVT VEKVIKILIT IVEEVETLRQ
ERLSFSGLRA PVPASELLAS GVLSRAQFEQ LKDGKTTVKD LSELGSVRTL LQGSGCLAGI
YLEDTKEKVS IYEAMRRGLL RATTAALLLE AQAATGFLVD PVRNQRLYVH EAVKAGVVGP
ELHEQLLSAE KAVTGYRDPY SGSTISLFQA MQKGLVLRQH GIRLLEAQIA TGGIIDPVHS
HRVPVDVAYQ RGYFSEEMNR VLADPSDDTK GFFDPNTHEN LTYRQLLERC VEDPETGLRL
LPLKGAEKAE VVETTQVYTE EETRRAFEET QIDIPGGGSH GGSTMSLWEV MQSDLIPEEQ
RAQLMADFQA GRVTKERMII IIIEIIEKTE IIRQQGLASY DYVRRRLTAE DLFEARIISL
ETYNLLREGT RSLREALEAE SAWCYLYGTG SVAGVYLPGS RQTLSIYQAL KKGLLSAEVA
RLLLEAQAAT GFLLDPVKGE RLTVDEAVRK GLVGPELHDR LLSAERAVTG YRDPYTEQTI
SLFQAMKKEL IPTEEALRLL DAQLATGGIV DPRLGFHLPL EVAYQRGYLN KDTHDQLSEP
SEVRSYVDPS TDERLSYTQL LRRCRRDDGT GQLLLPLSDA RKLTFRGLRK QITMEELVRS
QVMDEATALQ LREGLTSIEE VTKNLQKFLE GTSCIAGVFV DATKERLSVY QAMKKGIIRP
GTAFELLEAQ AATGYVIDPI KGLKLTVEEA VRMGIVGPEF KDKLLSAERA VTGYKDPYSG
KLISLFQAMK KGLILKDHGI RLLEAQIATG GIIDPEESHR LPVEVAYKRG LFDEEMNEIL
TDPSDDTKGF FDPNTEENLT YLQLMERCIT DPQTGLCLLP LKEKKRERKT SSKSSVRKRR
VVIVDPETGK EMSVYEAYRK GLIDHQTYLE LSEQECEWEE ITISSSDGVV KSMIIDRRSG
RQYDIDDAIA KNLIDRSALD QYRAGTLSIT EFADMLSGNA GGFRSRSSSV GSSSSYPISP
AVSRTQLASW SDPTEETGPV AGILDTETLE KVSITEAMHR NLVDNITGQR LLEAQACTGG
IIDPSTGERF PVTDAVNKGL VDKIMVDRIN LAQKAFCGFE DPRTKTKMSA AQALKKGWLY
YEAGQRFLEV QYLTGGLIEP DTPGRVPLDE ALQRGTVDAR TAQKLRDVGA YSKYLTCPKT
KLKISYKDAL DRSMVEEGTG LRLLEAAAQS TKGYYSPYSV SGSGSTAGSR TGSRTGSRAG
SRRGSFDATG SGFSMTFSSS SYSSSGYGRR YASGSSASLG GPESAVA*
mutated AA sequence MEPSGSLFPS LVVVGHVVTL AAVWHWRRGR RWAQDEQDER DRVQKKTFTK WVNKHLIKAQ
RHISDLYEDL RDGHNLISLL EVLSGDSLPR EKGRMRFHKL QNVQIALDYL RHRQVKLVNI
RNDDIADGNP KLTLGLIWTI ILHFQISDIQ VSGQSEDMTA KEKLLLWSQR MVEGYQGLRC
DNFTSSWRDG RLFNAIIHRH KPLLIDMNKV YRQTNLENLD QAFSVAERDL GVTRLLDPED
VDVPQPDEKS IITYVSSLYD AMPRVPDVQD GVRANELQLR WQEYRELVLL LLQWMRHHTA
AFEERRFPSS FEEIEILWSQ FLKFKEMELP AKEADKNRSK GIYQSLEGAV QAGQLKVPPG
YHPLDVEKEW GKLHVAILER EKQLRSEFER LECLQRIVTK LQMEAGLCEE QLNQADALLQ
SDVRLLAAGK VPQRAGEVER DLDKADSMIR LLFNDVQTLK DGRHPQGEQM YRRVYRLHER
LVAIRTEYNL RLKAGVAAPA TQVAQVTLQS VQRRPELEDS TLRYLQDLLA WVEENQHRVD
GAEWGVDLPS VEAQLGSHRG LHQSIEEFRA KIERARSDEG QLSPATRGAY RDCLGRLDLQ
YAKLLNSSKA RLRSLESLHS FVAAATKELM WLNEKEEEEV GFDWSDRNTN MTAKKESYSA
LMRELELKEK KIKELQNAGD RLLREDHPAR PTVESFQAAL QTQWSWMLQL CCCIEAHLKE
NAAYFQFFSD VREAEGQLQK LQEALRRKYS CDRSATVTRL EDLLQDAQDE KEQLNEYKGH
LSGLAKRAKA VVQLKPRHPA HPMRGRLPLL AVCDYKQVEV TVHKGDECQL VGPAQPSHWK
VLSSSGSEAA VPSVCFLVPP PNQEAQEAVT RLEAQHQALV TLWHQLHVDM KSLLAWQSLR
RDVQLIRSWS LATFRTLKPE EQRQALHSLE LHYQAFLRDS QDAGGFGPED RLMAEREYGS
CSHHYQQLLQ SLEQGAQEES RCQRCISELK DIRLQLEACE TRTVHRLRLP LDKEPARECA
QRIAEQQKAQ AEVEGLGKGV ARLSAEAEKV LALPEPSPAA PTLRSELELT LGKLEQVRSL
SAIYLEKLKT ISLVIRGTQG AEEVLRAHEE QLKEAQAVPA TLPELEATKA SLKKLRAQAE
AQQPTFDALR DELRGAQEVG ERLQQRHGER DVEVERWRER VAQLLERWQA VLAQTDVRQR
ELEQLGRQLR YYRESADPLG AWLQDARRRQ EQIQAMPLAD SQAVREQLRQ EQALLEEIER
HGEKVEECQR FAKQYINAIK DYELQLVTYK AQLEPVASPA KKPKVQSGSE SVIQEYVDLR
THYSELTTLT SQYIKFISET LRRMEEEERL AEQQRAEERE RLAEVEAALE KQRQLAEAHA
QAKAQAEREA KELQQRMQEE VVRREEAAVD AQQQKRSIQE ELQQLRQSSE AEIQAKARQA
EAAERSRLRI EEEIRVVRLQ LEATERQRGG AEGELQALRA RAEEAEAQKR QAQEEAERLR
RQVQDESQRK RQAEVELASR VKAEAEAARE KQRALQALEE LRLQAEEAER RLRQAEVERA
RQVQVALETA QRSAEAELQS KRASFAEKTA QLERSLQEEH VAVAQLREEA ERRAQQQAEA
ERAREEAERE LERWQLKANE ALRLRLQAEE VAQQKSLAQA EAEKQKEEAE REARRRGKAE
EQAVRQRELA EQELEKQRQL AEGTAQQRLA AEQELIRLRA ETEQGEQQRQ LLEEELARLQ
REAAAATQKR QELEAELAKV RAEMEVLLAS KARAEEESRS TSEKSKQRLE AEAGRFRELA
EEAARLRALA EEAKRQRQLA EEDAARQRAE AERVLAEKLA AIGEATRLKT EAEIALKEKE
AENERLRRLA EDEAFQRRRL EEQAAQHKAD IEERLAQLRK ASDSELERQK GLVEDTLRQR
RQVEEEILAL KASFEKAAAG KAELELELGR IRSNAEDTLR SKEQAELEAA RQRQLAAEEE
RRRREAEERV QKSLAAEEEA ARQRKAALEE VERLKAKVEE ARRLRERAEQ ESARQLQLAQ
EAAQKRLQAE EKAHAFAVQQ KEQELQQTLQ QEQSVLDQLR GEAEAARRAA EEAEEARVQA
EREAAQSRRQ VEEAERLKQS AEEQAQARAQ AQAAAEKLRK EAEQEAARRA QAEQAALRQK
QAADAEMEKH KKFAEQTLRQ KAQVEQELTT LRLQLEETDH QKNLLDEELQ RLKAEATEAA
RQRSQVEEEL FSVRVQMEEL SKLKARIEAE NRALILRDKD NTQRFLQEEA EKMKQVAEEA
ARLSVAAQEA ARLRQLAEED LAQQRALAEK MLKEKMQAVQ EATRLKAEAE LLQQQKELAQ
EQARRLQEDK EQMAQQLAEE TQGFQRTLEA ERQRQLEMSA EAERLKLRVA EMSRAQARAE
EDAQRFRKQA EEIGEKLHRT ELATQEKVTL VQTLEIQRQQ SDHDAERLRE AIAELEREKE
KLQQEAKLLQ LKSEEMQTVQ QEQLLQETQA LQQSFLSEKD SLLQRERFIE QEKAKLEQLF
QDEVAKAQQL REEQQRQQQQ MEQERQRLVA SMEEARRRQH EAEEGVRRKQ EELQQLEQQR
RQQEELLAEE NQRLREQLQL LEEQHRAALA HSEEVTASQV AATKTLPNGR DALDGPAAEA
EPEHSFDGLR RKVPAQRLQE AGILSAEELQ RLAQGHTTVD ELARREDVRH YLQGRSSIAG
LLLKATNEKL SVYAALQRQL LSPGTALILL EAQAASGFLL DPVRNRRLTV NEAVKEGVVG
PELHHKLLSA ERAVTGYKDP YTGQQISLFQ AMQKGLIVRE HGIRLLEAQI ATGGVIDPVH
SHRVPVDVAY RRGYFDEEMN RVLADPSDDT KGFFDPNTHE NLTYLQLLER CVEDPETGLC
LLPLTDKAAK GGELVYTDSE ARDVFEKATV SAPFGKFQGK TVTIWEIINS EYFTAEQRRD
LLRQFRTGRI TVEKIIKIII TVVEEQEQKG RLCFEGLRSL VPAAELLESR VIDRELYQQL
QRGERSVRDV AEVDTVRRAL RGANVIAGVW LEEAGQKLSI YNALKKDLLP SDMAVALLEA
QAGTGHIIDP ATSARLTVDE AVRAGLVGPE FHEKLLSAEK AVTGYRDPYT GQSVSLFQAL
KKGLIPREQG LRLLDAQLST GGIVDPSKSH RVPLDVACAR GCLDEETSRA LSAPRADAKA
YSDPSTGEPA TYGELQQRCR PDQLTGLSLL PLSEKAARAR QEELYSELQA RETFEKTPVE
VPVGGFKGRT VTVWELISSE YFTAEQRQEL LRQFRTGKVT VEKVIKILIT IVEEVETLRQ
ERLSFSGLRA PVPASELLAS GVLSRAQFEQ LKDGKTTVKD LSELGSVRTL LQGSGCLAGI
YLEDTKEKVS IYEAMRRGLL RATTAALLLE AQAATGFLVD PVRNQRLYVH EAVKAGVVGP
ELHEQLLSAE KAVTGYRDPY SGSTISLFQA MQKGLVLRQH GIRLLEAQIA TGGIIDPVHS
HRVPVDVAYQ RGYFSEEMNR VLADPSDDTK GFFDPNTHEN LTYRQLLERC VEDPETGLRL
LPLKGAEKAE VVETTQVYTE EETRRAFEET QIDIPGGGSH GGSTMSLWEV MQSDLIPEEQ
RAQLMADFQA GRVTKERMII IIIEIIEKTE IIRQQGLASY DYVRRRLTAE DLFEARIISL
ETYNLLREGT RSLREALEAE SAWCYLYGTG SVAGVYLPGS RQTLSIYQAL KKGLLSAEVA
RLLLEAQAAT GFLLDPVKGE RLTVDEAVRK GLVGPELHDR LLSAERAVTG YRDPYTEQTI
SLFQAMKKEL IPTEEALRLL DAQLATGGIV DPRLGFHLPL EVAYQRGYLN KDTHDQLSEP
SEVRSYVDPS TDERLSYTQL LRRCRRDDGT GQLLLPLSDA RKLTFRGLRK QITMEELVRS
QVMDEATALQ LREGLTSIEE VTKNLQKFLE GTSCIAGVFV DATKERLSVY QAMKKGIIRP
GTAFELLEAQ AATGYVIDPI KGLKLTVEEA VRMGIVGPEF KDKLLSAERA VTGYKDPYSG
KLISLFQAMK KGLILKDHGI RLLEAQIATG GIIDPEESHR LPVEVAYKRG LFDEEMNEIL
TDPSDDTKGF FDPNTEENLT YLQLMERCIT DPQTGLCLLP LKEKKRERKT SSKSSVRKRR
VVIVDPETGK EMSVYEAYRK GLIDHQTYLE LSEQECEWEE ITISSSDGVV KSMIIDRRSG
RQYDIDDAIA KNLIDRSALD QYRAGTLSIT EFADMLSGNA GGFRSRSSSV GSSSSYPISP
AVSRTQLASW SDPTEETGPV AGILDTETLE KVSITEAMHR NLVDNITGQR LLEAQACTGG
IIDPSTGERF PVTDAVNKGL VDKIMVDRIN LAQKAFCGFE DPRTKTKMSA AQALKKGWLY
YEAGQRFLEV QYLTGGLIEP DTPGRVPLDE ALQRGTVDAR TAQKLRDVGA YSKYLTCPKT
KLKISYKDAL DRSMVEEGTG LRLLEAAAQS TKGYYSPYSV SGSGSTAGSR TGSRTGSRAG
SRRGSFDATG SGFSMTFSSS SYSSSGYGRR YASGSSASLG GPESAVA*
speed 0.98 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