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 ENST00000357649
Genbank transcript ID NM_201383
UniProt peptide Q15149
alteration type single base exchange
alteration region CDS
DNA changes c.7972T>C
cDNA.7981T>C
g.54874T>C
AA changes S2658P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2658
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      2658EHSFDGLRRKVSAQRLQEAGILSA
mutated  not conserved    2658EHSFDGLRRKVPAQRLQEAGILS
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 13656 / 13656
position (AA) of stopcodon in wt / mu AA sequence 4552 / 4552
position of stopcodon in wt / mu cDNA 13665 / 13665
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 10 / 10
chromosome 8
strand -1
last intron/exon boundary 7447
theoretical NMD boundary in CDS 7387
length of CDS 13656
coding sequence (CDS) position 7972
cDNA position
(for ins/del: last normal base / first normal base)		 7981
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 MSGAGGAFAS PREVLLERPC WLDGGCEPAR RGYLYQQLCC VDERDRVQKK TFTKWVNKHL
IKAQRHISDL YEDLRDGHNL ISLLEVLSGD SLPREKGRMR FHKLQNVQIA LDYLRHRQVK
LVNIRNDDIA DGNPKLTLGL IWTIILHFQI SDIQVSGQSE DMTAKEKLLL WSQRMVEGYQ
GLRCDNFTSS WRDGRLFNAI IHRHKPLLID MNKVYRQTNL ENLDQAFSVA ERDLGVTRLL
DPEDVDVPQP DEKSIITYVS SLYDAMPRVP DVQDGVRANE LQLRWQEYRE LVLLLLQWMR
HHTAAFEERR FPSSFEEIEI LWSQFLKFKE MELPAKEADK NRSKGIYQSL EGAVQAGQLK
VPPGYHPLDV EKEWGKLHVA ILEREKQLRS EFERLECLQR IVTKLQMEAG LCEEQLNQAD
ALLQSDVRLL AAGKVPQRAG EVERDLDKAD SMIRLLFNDV QTLKDGRHPQ GEQMYRRVYR
LHERLVAIRT EYNLRLKAGV AAPATQVAQV TLQSVQRRPE LEDSTLRYLQ DLLAWVEENQ
HRVDGAEWGV DLPSVEAQLG SHRGLHQSIE EFRAKIERAR SDEGQLSPAT RGAYRDCLGR
LDLQYAKLLN SSKARLRSLE SLHSFVAAAT KELMWLNEKE EEEVGFDWSD RNTNMTAKKE
SYSALMRELE LKEKKIKELQ NAGDRLLRED HPARPTVESF QAALQTQWSW MLQLCCCIEA
HLKENAAYFQ FFSDVREAEG QLQKLQEALR RKYSCDRSAT VTRLEDLLQD AQDEKEQLNE
YKGHLSGLAK RAKAVVQLKP RHPAHPMRGR LPLLAVCDYK QVEVTVHKGD ECQLVGPAQP
SHWKVLSSSG SEAAVPSVCF LVPPPNQEAQ EAVTRLEAQH QALVTLWHQL HVDMKSLLAW
QSLRRDVQLI RSWSLATFRT LKPEEQRQAL HSLELHYQAF LRDSQDAGGF GPEDRLMAER
EYGSCSHHYQ QLLQSLEQGA QEESRCQRCI SELKDIRLQL EACETRTVHR LRLPLDKEPA
RECAQRIAEQ QKAQAEVEGL GKGVARLSAE AEKVLALPEP SPAAPTLRSE LELTLGKLEQ
VRSLSAIYLE KLKTISLVIR GTQGAEEVLR AHEEQLKEAQ AVPATLPELE ATKASLKKLR
AQAEAQQPTF DALRDELRGA QEVGERLQQR HGERDVEVER WRERVAQLLE RWQAVLAQTD
VRQRELEQLG RQLRYYRESA DPLGAWLQDA RRRQEQIQAM PLADSQAVRE QLRQEQALLE
EIERHGEKVE ECQRFAKQYI NAIKDYELQL VTYKAQLEPV ASPAKKPKVQ SGSESVIQEY
VDLRTHYSEL TTLTSQYIKF ISETLRRMEE EERLAEQQRA EERERLAEVE AALEKQRQLA
EAHAQAKAQA EREAKELQQR MQEEVVRREE AAVDAQQQKR SIQEELQQLR QSSEAEIQAK
ARQAEAAERS RLRIEEEIRV VRLQLEATER QRGGAEGELQ ALRARAEEAE AQKRQAQEEA
ERLRRQVQDE SQRKRQAEVE LASRVKAEAE AAREKQRALQ ALEELRLQAE EAERRLRQAE
VERARQVQVA LETAQRSAEA ELQSKRASFA EKTAQLERSL QEEHVAVAQL REEAERRAQQ
QAEAERAREE AERELERWQL KANEALRLRL QAEEVAQQKS LAQAEAEKQK EEAEREARRR
GKAEEQAVRQ RELAEQELEK QRQLAEGTAQ QRLAAEQELI RLRAETEQGE QQRQLLEEEL
ARLQREAAAA TQKRQELEAE LAKVRAEMEV LLASKARAEE ESRSTSEKSK QRLEAEAGRF
RELAEEAARL RALAEEAKRQ RQLAEEDAAR QRAEAERVLA EKLAAIGEAT RLKTEAEIAL
KEKEAENERL RRLAEDEAFQ RRRLEEQAAQ HKADIEERLA QLRKASDSEL ERQKGLVEDT
LRQRRQVEEE ILALKASFEK AAAGKAELEL ELGRIRSNAE DTLRSKEQAE LEAARQRQLA
AEEERRRREA EERVQKSLAA EEEAARQRKA ALEEVERLKA KVEEARRLRE RAEQESARQL
QLAQEAAQKR LQAEEKAHAF AVQQKEQELQ QTLQQEQSVL DQLRGEAEAA RRAAEEAEEA
RVQAEREAAQ SRRQVEEAER LKQSAEEQAQ ARAQAQAAAE KLRKEAEQEA ARRAQAEQAA
LRQKQAADAE MEKHKKFAEQ TLRQKAQVEQ ELTTLRLQLE ETDHQKNLLD EELQRLKAEA
TEAARQRSQV EEELFSVRVQ MEELSKLKAR IEAENRALIL RDKDNTQRFL QEEAEKMKQV
AEEAARLSVA AQEAARLRQL AEEDLAQQRA LAEKMLKEKM QAVQEATRLK AEAELLQQQK
ELAQEQARRL QEDKEQMAQQ LAEETQGFQR TLEAERQRQL EMSAEAERLK LRVAEMSRAQ
ARAEEDAQRF RKQAEEIGEK LHRTELATQE KVTLVQTLEI QRQQSDHDAE RLREAIAELE
REKEKLQQEA KLLQLKSEEM QTVQQEQLLQ ETQALQQSFL SEKDSLLQRE RFIEQEKAKL
EQLFQDEVAK AQQLREEQQR QQQQMEQERQ RLVASMEEAR RRQHEAEEGV RRKQEELQQL
EQQRRQQEEL LAEENQRLRE QLQLLEEQHR AALAHSEEVT ASQVAATKTL PNGRDALDGP
AAEAEPEHSF DGLRRKVSAQ RLQEAGILSA EELQRLAQGH TTVDELARRE DVRHYLQGRS
SIAGLLLKAT NEKLSVYAAL QRQLLSPGTA LILLEAQAAS GFLLDPVRNR RLTVNEAVKE
GVVGPELHHK LLSAERAVTG YKDPYTGQQI SLFQAMQKGL IVREHGIRLL EAQIATGGVI
DPVHSHRVPV DVAYRRGYFD EEMNRVLADP SDDTKGFFDP NTHENLTYLQ LLERCVEDPE
TGLCLLPLTD KAAKGGELVY TDSEARDVFE KATVSAPFGK FQGKTVTIWE IINSEYFTAE
QRRDLLRQFR TGRITVEKII KIIITVVEEQ EQKGRLCFEG LRSLVPAAEL LESRVIDREL
YQQLQRGERS VRDVAEVDTV RRALRGANVI AGVWLEEAGQ KLSIYNALKK DLLPSDMAVA
LLEAQAGTGH IIDPATSARL TVDEAVRAGL VGPEFHEKLL SAEKAVTGYR DPYTGQSVSL
FQALKKGLIP REQGLRLLDA QLSTGGIVDP SKSHRVPLDV ACARGCLDEE TSRALSAPRA
DAKAYSDPST GEPATYGELQ QRCRPDQLTG LSLLPLSEKA ARARQEELYS ELQARETFEK
TPVEVPVGGF KGRTVTVWEL ISSEYFTAEQ RQELLRQFRT GKVTVEKVIK ILITIVEEVE
TLRQERLSFS GLRAPVPASE LLASGVLSRA QFEQLKDGKT TVKDLSELGS VRTLLQGSGC
LAGIYLEDTK EKVSIYEAMR RGLLRATTAA LLLEAQAATG FLVDPVRNQR LYVHEAVKAG
VVGPELHEQL LSAEKAVTGY RDPYSGSTIS LFQAMQKGLV LRQHGIRLLE AQIATGGIID
PVHSHRVPVD VAYQRGYFSE EMNRVLADPS DDTKGFFDPN THENLTYRQL LERCVEDPET
GLRLLPLKGA EKAEVVETTQ VYTEEETRRA FEETQIDIPG GGSHGGSTMS LWEVMQSDLI
PEEQRAQLMA DFQAGRVTKE RMIIIIIEII EKTEIIRQQG LASYDYVRRR LTAEDLFEAR
IISLETYNLL REGTRSLREA LEAESAWCYL YGTGSVAGVY LPGSRQTLSI YQALKKGLLS
AEVARLLLEA QAATGFLLDP VKGERLTVDE AVRKGLVGPE LHDRLLSAER AVTGYRDPYT
EQTISLFQAM KKELIPTEEA LRLLDAQLAT GGIVDPRLGF HLPLEVAYQR GYLNKDTHDQ
LSEPSEVRSY VDPSTDERLS YTQLLRRCRR DDGTGQLLLP LSDARKLTFR GLRKQITMEE
LVRSQVMDEA TALQLREGLT SIEEVTKNLQ KFLEGTSCIA GVFVDATKER LSVYQAMKKG
IIRPGTAFEL LEAQAATGYV IDPIKGLKLT VEEAVRMGIV GPEFKDKLLS AERAVTGYKD
PYSGKLISLF QAMKKGLILK DHGIRLLEAQ IATGGIIDPE ESHRLPVEVA YKRGLFDEEM
NEILTDPSDD TKGFFDPNTE ENLTYLQLME RCITDPQTGL CLLPLKEKKR ERKTSSKSSV
RKRRVVIVDP ETGKEMSVYE AYRKGLIDHQ TYLELSEQEC EWEEITISSS DGVVKSMIID
RRSGRQYDID DAIAKNLIDR SALDQYRAGT LSITEFADML SGNAGGFRSR SSSVGSSSSY
PISPAVSRTQ LASWSDPTEE TGPVAGILDT ETLEKVSITE AMHRNLVDNI TGQRLLEAQA
CTGGIIDPST GERFPVTDAV NKGLVDKIMV DRINLAQKAF CGFEDPRTKT KMSAAQALKK
GWLYYEAGQR FLEVQYLTGG LIEPDTPGRV PLDEALQRGT VDARTAQKLR DVGAYSKYLT
CPKTKLKISY KDALDRSMVE EGTGLRLLEA AAQSTKGYYS PYSVSGSGST AGSRTGSRTG
SRAGSRRGSF DATGSGFSMT FSSSSYSSSG YGRRYASGSS ASLGGPESAV A*
mutated AA sequence MSGAGGAFAS PREVLLERPC WLDGGCEPAR RGYLYQQLCC VDERDRVQKK TFTKWVNKHL
IKAQRHISDL YEDLRDGHNL ISLLEVLSGD SLPREKGRMR FHKLQNVQIA LDYLRHRQVK
LVNIRNDDIA DGNPKLTLGL IWTIILHFQI SDIQVSGQSE DMTAKEKLLL WSQRMVEGYQ
GLRCDNFTSS WRDGRLFNAI IHRHKPLLID MNKVYRQTNL ENLDQAFSVA ERDLGVTRLL
DPEDVDVPQP DEKSIITYVS SLYDAMPRVP DVQDGVRANE LQLRWQEYRE LVLLLLQWMR
HHTAAFEERR FPSSFEEIEI LWSQFLKFKE MELPAKEADK NRSKGIYQSL EGAVQAGQLK
VPPGYHPLDV EKEWGKLHVA ILEREKQLRS EFERLECLQR IVTKLQMEAG LCEEQLNQAD
ALLQSDVRLL AAGKVPQRAG EVERDLDKAD SMIRLLFNDV QTLKDGRHPQ GEQMYRRVYR
LHERLVAIRT EYNLRLKAGV AAPATQVAQV TLQSVQRRPE LEDSTLRYLQ DLLAWVEENQ
HRVDGAEWGV DLPSVEAQLG SHRGLHQSIE EFRAKIERAR SDEGQLSPAT RGAYRDCLGR
LDLQYAKLLN SSKARLRSLE SLHSFVAAAT KELMWLNEKE EEEVGFDWSD RNTNMTAKKE
SYSALMRELE LKEKKIKELQ NAGDRLLRED HPARPTVESF QAALQTQWSW MLQLCCCIEA
HLKENAAYFQ FFSDVREAEG QLQKLQEALR RKYSCDRSAT VTRLEDLLQD AQDEKEQLNE
YKGHLSGLAK RAKAVVQLKP RHPAHPMRGR LPLLAVCDYK QVEVTVHKGD ECQLVGPAQP
SHWKVLSSSG SEAAVPSVCF LVPPPNQEAQ EAVTRLEAQH QALVTLWHQL HVDMKSLLAW
QSLRRDVQLI RSWSLATFRT LKPEEQRQAL HSLELHYQAF LRDSQDAGGF GPEDRLMAER
EYGSCSHHYQ QLLQSLEQGA QEESRCQRCI SELKDIRLQL EACETRTVHR LRLPLDKEPA
RECAQRIAEQ QKAQAEVEGL GKGVARLSAE AEKVLALPEP SPAAPTLRSE LELTLGKLEQ
VRSLSAIYLE KLKTISLVIR GTQGAEEVLR AHEEQLKEAQ AVPATLPELE ATKASLKKLR
AQAEAQQPTF DALRDELRGA QEVGERLQQR HGERDVEVER WRERVAQLLE RWQAVLAQTD
VRQRELEQLG RQLRYYRESA DPLGAWLQDA RRRQEQIQAM PLADSQAVRE QLRQEQALLE
EIERHGEKVE ECQRFAKQYI NAIKDYELQL VTYKAQLEPV ASPAKKPKVQ SGSESVIQEY
VDLRTHYSEL TTLTSQYIKF ISETLRRMEE EERLAEQQRA EERERLAEVE AALEKQRQLA
EAHAQAKAQA EREAKELQQR MQEEVVRREE AAVDAQQQKR SIQEELQQLR QSSEAEIQAK
ARQAEAAERS RLRIEEEIRV VRLQLEATER QRGGAEGELQ ALRARAEEAE AQKRQAQEEA
ERLRRQVQDE SQRKRQAEVE LASRVKAEAE AAREKQRALQ ALEELRLQAE EAERRLRQAE
VERARQVQVA LETAQRSAEA ELQSKRASFA EKTAQLERSL QEEHVAVAQL REEAERRAQQ
QAEAERAREE AERELERWQL KANEALRLRL QAEEVAQQKS LAQAEAEKQK EEAEREARRR
GKAEEQAVRQ RELAEQELEK QRQLAEGTAQ QRLAAEQELI RLRAETEQGE QQRQLLEEEL
ARLQREAAAA TQKRQELEAE LAKVRAEMEV LLASKARAEE ESRSTSEKSK QRLEAEAGRF
RELAEEAARL RALAEEAKRQ RQLAEEDAAR QRAEAERVLA EKLAAIGEAT RLKTEAEIAL
KEKEAENERL RRLAEDEAFQ RRRLEEQAAQ HKADIEERLA QLRKASDSEL ERQKGLVEDT
LRQRRQVEEE ILALKASFEK AAAGKAELEL ELGRIRSNAE DTLRSKEQAE LEAARQRQLA
AEEERRRREA EERVQKSLAA EEEAARQRKA ALEEVERLKA KVEEARRLRE RAEQESARQL
QLAQEAAQKR LQAEEKAHAF AVQQKEQELQ QTLQQEQSVL DQLRGEAEAA RRAAEEAEEA
RVQAEREAAQ SRRQVEEAER LKQSAEEQAQ ARAQAQAAAE KLRKEAEQEA ARRAQAEQAA
LRQKQAADAE MEKHKKFAEQ TLRQKAQVEQ ELTTLRLQLE ETDHQKNLLD EELQRLKAEA
TEAARQRSQV EEELFSVRVQ MEELSKLKAR IEAENRALIL RDKDNTQRFL QEEAEKMKQV
AEEAARLSVA AQEAARLRQL AEEDLAQQRA LAEKMLKEKM QAVQEATRLK AEAELLQQQK
ELAQEQARRL QEDKEQMAQQ LAEETQGFQR TLEAERQRQL EMSAEAERLK LRVAEMSRAQ
ARAEEDAQRF RKQAEEIGEK LHRTELATQE KVTLVQTLEI QRQQSDHDAE RLREAIAELE
REKEKLQQEA KLLQLKSEEM QTVQQEQLLQ ETQALQQSFL SEKDSLLQRE RFIEQEKAKL
EQLFQDEVAK AQQLREEQQR QQQQMEQERQ RLVASMEEAR RRQHEAEEGV RRKQEELQQL
EQQRRQQEEL LAEENQRLRE QLQLLEEQHR AALAHSEEVT ASQVAATKTL PNGRDALDGP
AAEAEPEHSF DGLRRKVPAQ RLQEAGILSA EELQRLAQGH TTVDELARRE DVRHYLQGRS
SIAGLLLKAT NEKLSVYAAL QRQLLSPGTA LILLEAQAAS GFLLDPVRNR RLTVNEAVKE
GVVGPELHHK LLSAERAVTG YKDPYTGQQI SLFQAMQKGL IVREHGIRLL EAQIATGGVI
DPVHSHRVPV DVAYRRGYFD EEMNRVLADP SDDTKGFFDP NTHENLTYLQ LLERCVEDPE
TGLCLLPLTD KAAKGGELVY TDSEARDVFE KATVSAPFGK FQGKTVTIWE IINSEYFTAE
QRRDLLRQFR TGRITVEKII KIIITVVEEQ EQKGRLCFEG LRSLVPAAEL LESRVIDREL
YQQLQRGERS VRDVAEVDTV RRALRGANVI AGVWLEEAGQ KLSIYNALKK DLLPSDMAVA
LLEAQAGTGH IIDPATSARL TVDEAVRAGL VGPEFHEKLL SAEKAVTGYR DPYTGQSVSL
FQALKKGLIP REQGLRLLDA QLSTGGIVDP SKSHRVPLDV ACARGCLDEE TSRALSAPRA
DAKAYSDPST GEPATYGELQ QRCRPDQLTG LSLLPLSEKA ARARQEELYS ELQARETFEK
TPVEVPVGGF KGRTVTVWEL ISSEYFTAEQ RQELLRQFRT GKVTVEKVIK ILITIVEEVE
TLRQERLSFS GLRAPVPASE LLASGVLSRA QFEQLKDGKT TVKDLSELGS VRTLLQGSGC
LAGIYLEDTK EKVSIYEAMR RGLLRATTAA LLLEAQAATG FLVDPVRNQR LYVHEAVKAG
VVGPELHEQL LSAEKAVTGY RDPYSGSTIS LFQAMQKGLV LRQHGIRLLE AQIATGGIID
PVHSHRVPVD VAYQRGYFSE EMNRVLADPS DDTKGFFDPN THENLTYRQL LERCVEDPET
GLRLLPLKGA EKAEVVETTQ VYTEEETRRA FEETQIDIPG GGSHGGSTMS LWEVMQSDLI
PEEQRAQLMA DFQAGRVTKE RMIIIIIEII EKTEIIRQQG LASYDYVRRR LTAEDLFEAR
IISLETYNLL REGTRSLREA LEAESAWCYL YGTGSVAGVY LPGSRQTLSI YQALKKGLLS
AEVARLLLEA QAATGFLLDP VKGERLTVDE AVRKGLVGPE LHDRLLSAER AVTGYRDPYT
EQTISLFQAM KKELIPTEEA LRLLDAQLAT GGIVDPRLGF HLPLEVAYQR GYLNKDTHDQ
LSEPSEVRSY VDPSTDERLS YTQLLRRCRR DDGTGQLLLP LSDARKLTFR GLRKQITMEE
LVRSQVMDEA TALQLREGLT SIEEVTKNLQ KFLEGTSCIA GVFVDATKER LSVYQAMKKG
IIRPGTAFEL LEAQAATGYV IDPIKGLKLT VEEAVRMGIV GPEFKDKLLS AERAVTGYKD
PYSGKLISLF QAMKKGLILK DHGIRLLEAQ IATGGIIDPE ESHRLPVEVA YKRGLFDEEM
NEILTDPSDD TKGFFDPNTE ENLTYLQLME RCITDPQTGL CLLPLKEKKR ERKTSSKSSV
RKRRVVIVDP ETGKEMSVYE AYRKGLIDHQ TYLELSEQEC EWEEITISSS DGVVKSMIID
RRSGRQYDID DAIAKNLIDR SALDQYRAGT LSITEFADML SGNAGGFRSR SSSVGSSSSY
PISPAVSRTQ LASWSDPTEE TGPVAGILDT ETLEKVSITE AMHRNLVDNI TGQRLLEAQA
CTGGIIDPST GERFPVTDAV NKGLVDKIMV DRINLAQKAF CGFEDPRTKT KMSAAQALKK
GWLYYEAGQR FLEVQYLTGG LIEPDTPGRV PLDEALQRGT VDARTAQKLR DVGAYSKYLT
CPKTKLKISY KDALDRSMVE EGTGLRLLEA AAQSTKGYYS PYSVSGSGST AGSRTGSRTG
SRAGSRRGSF DATGSGFSMT FSSSSYSSSG YGRRYASGSS ASLGGPESAV A*
speed 0.16 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