Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998232 (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) chr1:228494790G>AN/A show variant in all transcripts   IGV
HGNC symbol OBSCN
Ensembl transcript ID ENST00000570156
Genbank transcript ID N/A
UniProt peptide Q5VST9
alteration type single base exchange
alteration region CDS
DNA changes c.14251G>A
cDNA.14325G>A
g.98960G>A
AA changes G4751R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 4751
frameshift no
known variant Reference ID: rs435776
databasehomozygous (A/A)heterozygousallele carriers
1000G2478511098
ExAC110981057121669
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6350
0.3580
(flanking)0.1130
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased98952wt: 0.65 / mu: 0.78wt: GCTGCTGGTACGCGG
mu: GCTGCTGGTACGCAG		 TGCT|ggta
Donor marginally increased98957wt: 0.9796 / mu: 0.9810 (marginal change - not scored)wt: TGGTACGCGGAGTGG
mu: TGGTACGCAGAGTGG		 GTAC|gcgg
Donor marginally increased98962wt: 0.9954 / mu: 0.9971 (marginal change - not scored)wt: CGCGGAGTGGAGCAG
mu: CGCAGAGTGGAGCAG		 CGGA|gtgg
Donor gained989600.81mu: TACGCAGAGTGGAGC CGCA|gagt
distance from splice site 79
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      4751QDGAAAELLVRGVEQEDAGDYTCD
mutated  not conserved    4751DGAAAELLVRRVEQEDAGDYTC
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000023096  1038QDGAAAELLVHGVEQEDAGDYTC
Fcatus  not conserved  ENSFCAG00000000673  4039QEGRAAELWVHHTEQEDAGHYTC
Mmusculus  not conserved  ENSMUSG00000061462  4719ENGLRHLLLLKNLKPQDSCRVTF
Ggallus  not conserved  ENSGALG00000004754  4046LSGCTAELVIHNAEPEDASDYTC
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000043309  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
48464849COMPBIASPoly-Gln.might get lost (downstream of altered splice site)
48724901DOMAINIQ.might get lost (downstream of altered splice site)
48984989DOMAINIg-like 48.might get lost (downstream of altered splice site)
49194919DISULFIDBy similarity.might get lost (downstream of altered splice site)
49594959CONFLICTT -> A (in Ref. 1; CAC44768).might get lost (downstream of altered splice site)
49714971DISULFIDBy similarity.might get lost (downstream of altered splice site)
51265215DOMAINIg-like 49.might get lost (downstream of altered splice site)
51475147DISULFIDBy similarity.might get lost (downstream of altered splice site)
51995199DISULFIDBy similarity.might get lost (downstream of altered splice site)
52435243CONFLICTS -> ST (in Ref. 1; CAC85753).might get lost (downstream of altered splice site)
52605349DOMAINIg-like 50.might get lost (downstream of altered splice site)
53715467DOMAINIg-like 51.might get lost (downstream of altered splice site)
53915391CONFLICTS -> F (in Ref. 4; BAB13465).might get lost (downstream of altered splice site)
54995500CONFLICTLE -> FQ (in Ref. 1; CAC44768).might get lost (downstream of altered splice site)
56015668DOMAINSH3.might get lost (downstream of altered splice site)
56045609STRANDmight get lost (downstream of altered splice site)
56285636STRANDmight get lost (downstream of altered splice site)
56395644STRANDmight get lost (downstream of altered splice site)
56545657STRANDmight get lost (downstream of altered splice site)
56595661HELIXmight get lost (downstream of altered splice site)
56625665STRANDmight get lost (downstream of altered splice site)
56935877DOMAINDH.might get lost (downstream of altered splice site)
58956004DOMAINPH.might get lost (downstream of altered splice site)
60146097DOMAINIg-like 52.might get lost (downstream of altered splice site)
60356035DISULFIDBy similarity.might get lost (downstream of altered splice site)
60386038MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
60406040MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
60876087DISULFIDBy similarity.might get lost (downstream of altered splice site)
61086200DOMAINIg-like 53.might get lost (downstream of altered splice site)
61156115CONFLICTR -> L (in Ref. 1; CAC44768).might get lost (downstream of altered splice site)
61296129DISULFIDBy similarity.might get lost (downstream of altered splice site)
61826182DISULFIDBy similarity.might get lost (downstream of altered splice site)
63576445DOMAINIg-like 54.might get lost (downstream of altered splice site)
64686721DOMAINProtein kinase 1.might get lost (downstream of altered splice site)
64746482NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
64976497BINDINGATP (By similarity).might get lost (downstream of altered splice site)
65706570CONFLICTQ -> E (in Ref. 3; CAJ76912).might get lost (downstream of altered splice site)
65876587ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
67106711CONFLICTPS -> SG (in Ref. 3; CAJ76912).might get lost (downstream of altered splice site)
67896796COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
69697117COMPBIASPro-rich.might get lost (downstream of altered splice site)
74637552DOMAINIg-like 55.might get lost (downstream of altered splice site)
74847484DISULFIDBy similarity.might get lost (downstream of altered splice site)
75367536DISULFIDBy similarity.might get lost (downstream of altered splice site)
75577644DOMAINFibronectin type-III 4.might get lost (downstream of altered splice site)
76717671MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
76727924DOMAINProtein kinase 2.might get lost (downstream of altered splice site)
76787686NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
77017701BINDINGATP (By similarity).might get lost (downstream of altered splice site)
77917791ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 26037 / 26037
position (AA) of stopcodon in wt / mu AA sequence 8679 / 8679
position of stopcodon in wt / mu cDNA 26111 / 26111
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 1
strand 1
last intron/exon boundary 25934
theoretical NMD boundary in CDS 25809
length of CDS 26037
coding sequence (CDS) position 14251
cDNA position
(for ins/del: last normal base / first normal base)		 14325
gDNA position
(for ins/del: last normal base / first normal base)		 98960
chromosomal position
(for ins/del: last normal base / first normal base)		 228494790
original gDNA sequence snippet CTGCAGAGCTGCTGGTACGCGGAGTGGAGCAGGAGGATGCG
altered gDNA sequence snippet CTGCAGAGCTGCTGGTACGCAGAGTGGAGCAGGAGGATGCG
original cDNA sequence snippet CTGCAGAGCTGCTGGTACGCGGAGTGGAGCAGGAGGATGCG
altered cDNA sequence snippet CTGCAGAGCTGCTGGTACGCAGAGTGGAGCAGGAGGATGCG
wildtype AA sequence MDQPQFSGAP RFLTRPKAFV VSVGKDATLS CQIVGNPTPQ VSWEKDQQPV AAGARFRLAQ
DGDLYRLTIL DLALGDSGQY VCRARNAIGE AFAAVGLQVD AEAACAEQAP HFLLRPTSIR
VREGSEATFR CRVGGSPRPA VSWSKDGRRL GEPDGPRVRV EELGEASALR IRAARPRDGG
TYEVRAENPL GAASAAAALV VDSDAADTAS RPGTSTAALL AHLQRRREAM RAEGAPASPP
STGTRTCTVT EGKHARLSCY VTGEPKPETV WKKDGQLVTE GRRHVVYEDA QENFVLKILF
CKQSDRGLYT CTASNLVGQT YSSVLVVVRE PAVPFKKRLQ DLEVREKESA TFLCEVPQPS
TEAAWFKEET RLWASAKYGI EEEGTERRLT VRNVSADDDA VYICETPEGS RTVAELAVQG
NLLRKLPRKT AVRVGDTAMF CVELAVPVGP VHWLRNQEEV VAGGRVAISA EGTRHTLTIS
QCCLEDVGQV AFMAGDCQTS TQFCVSAPRK PPLQPPVDPV VKARMESSVI LSWSPPPHGE
RPVTIDGYLV EKKKLGTYTW IRCHEAEWVA TPELTVADVA EEGNFQFRVS ALNSFGQSPY
LEFPGTVHLA PKLAVRTPLK AVQAVEGGEV TFSVDLTVAS AGEWFLDGQA LKASSVYEIH
CDRTRHTLTI REVPASLHGA QLKFVANGIE SSIRMEVRAA PGLTANKPPA AAAREVLARL
HEEAQLLAEL SDQAAAVTWL KDGRTLSPGP KYEVQASAGR RVLLVRDVAR DDAGLYECVS
RGGRIAYQLS VQGLARFLHK DMAGSCVDAV AGGPAQFECE TSEAHVHVHW YKDGMELGHS
GERFLQEDVG TRHRLVAATV TRQDEGTYSC RVGEDSVDFR LRVSEPKVVF AKEQLARRKL
QAEAGASATL SCEVAQAQTE VTWYKDGKKL SSSSKVCMEA TGCTRRLVVQ QAGQADAGEY
SCEAGGQRLS FHLDVKEPKV VFAKDQVAHS EVQAEAGASA TLSCEVAQAQ TEVMWYKDGK
KLSSSLKVHV EAKGCRRRLV VQQAGKTDAG DYSCEARGQR VSFRLHITEP KMMFAKEQSV
HNEVQAEAGA SAMLSCEVAQ AQTEVTWYKD GKKLSSSSKV GMEVKGCTRR LVLPQAGKAD
AGEYSCEAGG QRVSFHLHIT EPKGVFAKEQ SVHNEVQAEA GTTAMLSCEV AQPQTEVTWY
KDGKKLSSSS KVRMEVKGCT RRLVVQQVGK ADAGEYSCEA GGQRVSFQLH ITEPKAVFAK
EQLVHNEVRT EAGASATLSC EVAQAQTEVT WYKDGKKLSS SSKVRIEAAG CMRQLVVQQA
GQADAGEYTC EAGGQRLSFH LDVSEPKAVF AKEQLAHRKV QAEAGAIATL SCEVAQAQTE
VTWYKDGKKL SSSSKVRMEA VGCTRRLVVQ QACQADTGEY SCEAGGQRLS FSLDVAEPKV
VFAKEQPVHR EVQAQAGAST TLSCEVAQAQ TEVMWYKDGK KLSFSSKVRM EAVGCTRRLV
VQQAGQAVAG EYSCEAGSQR LSFHLHVAEP KAVFAKEQPA HREVQAEAGA SATLSCEVAQ
AQTEVTWYKD GKKLSSSLKV HVEAAGCTRR LVVQQAGQAD TGEYSCEAGG QQLSFRLQVA
EPKAVFAKEQ PASREVQAEA GTSATLSCEV AQAQTEVTWY KDGKKLSSSS KVRMEAVGCT
RRLVVQEAGQ ADAGEYSCKA GDQRLSFHLH VAEPKVVFAK EQPAHREVQA EAGASATLSC
EVAQAQTEVT WYKDGKKLSS SSKVRVEAVG CTRRLVVQQA GQAEAGEYSC EAGGQQLSFR
LQVAEPKVVF AKEQPACREV QAEAGASATL SCEVAQGQME VTWYKDGKKL SSSSKVHMEA
SGYTRRLVVQ QAGQADAGEY SCEAGGQRLS FRLHVAELEP QISERPCRRE PLVVKEHEDI
ILTATLATPS AATVTWLKDG VEIRRSKRHE TASQGDTHTL TVHGAQVLDS AIYSCRVGAE
GQDFPVQVEE VAAKFCRLLE PVCGELGGTV TLACELSPAC AEVVWRCGNT QLRVGKRFQM
VAEGPVRSLT VLGLRAEDAG EYVCESRDDH TSAQLTVSVP RVVKFMSGLS TVVAEEGGEA
TFQCVVSPSD VAVVWFRDGA LLQPSEKFAI SQSGASHSLT ISDLVLEDAG QITVEAEGAS
SSAALRVREA PVLFKKKLEP QTVEERSSVT LEVELTRPWP ELRWTRNATA LAPGKNVEIH
AEGARHRLVL HNVGFADRGF FGCETPDDKT QAKLTVEMRQ VRLVRGLQAV EAREQGTATM
EVQLSHADVD GSWTRDGLRF QQGPTCHLAV RGPMHTLTLS GLRPEDSGLM VFKAEGVHTS
ARLVVTELPV SFSRPLQDVV TTEKEKVTLE CELSRPNVDV RWLKDGVELR AGKTMAIAAQ
GACRSLTIYR CEFADQGVYV CDAHDAQSSA SVKVQGRTYT LIYRRVLAED AGEIQFVAEN
AESRAQLRVK ELPVTLVRPL RDKIAMEKHR GVLECQVSRA SAQVRWFKGS QELQPGPKYE
LVSDGLYRKL IISDVHAEDE DTYTCDAGDV KTSAQFFVEE QSITIVRGLQ DVTVMEPAPA
WFECETSIPS VRPPKWLLGK TVLQAGGNVG LEQEGTVHRL MLRRTCSTMT GPVHFTVGKS
RSSARLVVSD IPVVLTRPLE PKTGRELQSV VLSCDFRPAP KAVQWYKDDT PLSPSEKFKM
SLEGQMAELR ILRLMPADAG VYRCQAGSAH SSTEVTVEAR EVTVTGPLQD AEATEEGWAS
FSCELSHEDE EVEWSLNGMP LYNDSFHEIS HKGRRHTLVL KSIQRADAGI VRASSLKVST
SARLEVRVKP VVFLKALDDL SAEERGTLAL QCEVSDPEAH VVWRKDGVQL GPSDKYDFLH
TAGTRGLVVH DVSPEDAGLY TCHVGSEETR ARVRVHDLHV GITKRLKTME VLEGESCSFE
CVLSHESASD PAMWTVGGKT VGSSSRFQAT RQGRKYILVV REAAPSDAGE VVFSVRGLTS
KASLIVRERP AAIIKPLEDQ WVAPGEDVEL RCELSRAGTP VHWLKDRKAI RKSQKYDVVC
EGTMAMLVIR GASLKDAGEY TCEVEASKST ASLHVEEKAN CFTEELTNLQ VEEKGTAVFT
CKTEHPAATV TWRKGLLELR ASGKHQPSQE GLTLRLTISA LEKADSDTYT CDIGQAQSRA
QLLVQGRRVH IIEDLEDVDV QEGSSATFRC RISPANYEPV HWFLDKTPLH ANELNEIDAQ
PGGYHVLTLR QLALKDSGTI YFEAGDQRAS AALRVTEKPS VFSRELTDAT ITEGEDLTLV
CETSTCDIPV CWTKDGKTLR GSARCQLSHE GHRAQLLITG ATLQDSGRYK CEAGGACSSS
IVRVHARPVR FQEALKDLEV LEGGAATLRC VLSSVAAPVK WCYGNNVLRP GDKYSLRQEG
AMLELVVRNL RPQDSGRYSC SFGDQTTSAT LTVTALPAQF IGKLRNKEAT EGATATLRCE
LSKAAPVEWR KGSETLRDGD RYCLRQDGAM CELQIRGLAM VDAAEYSCVC GEERTSASLT
IRPMPAHFIG RLRHQESIEG ATATLRCELS KAAPVEWRKG RESLRDGDRH SLRQDGAVCE
LQICGLAVAD AGEYSCVCGE ERTSATLTVK ALPAKFTEGL RNEEAVEGAT AMLWCELSKV
APVEWRKGPE NLRDGDRYIL RQEGTRCELQ ICGLAMADAG EYLCVCGQER TSATLTIRAL
PARFIEDVKN QEAREGATAV LQCELNSAAP VEWRKGSETL RDGDRYSLRQ DGTKCELQIR
GLAMADTGEY SCVCGQERTS AMLTVRALPI KFTEGLRNEE ATEGATAVLR CELSKMAPVE
WWKGHETLRD GDRHSLRQDG ARCELQIRGL VAEDAGEYLC MCGKERTSAM LTVRAMPSKF
IEGLRNEEAT EGDTATLWCE LSKAAPVEWR KGHETLRDGD RHSLRQDGSR CELQIRGLAV
VDAGEYSCVC GQERTSATLT VRALPARFIE DVKNQEAREG ATAVLQCELS KAAPVEWRKG
SETLRGGDRY SLRQDGTRCE LQIHGLSVAD TGEYSCVCGQ ERTSATLTVR ALPARFTQDL
KTKEASEGAT ATLQCELSKV APVEWKKGPE TLRDGGRYSL KQDGTRCELQ IHDLSVADAG
EYSCMCGQER TSATLTVRAL PARFTEGLRN EEAMEGATAT LQCELSKAAP VEWRKGLEAL
RDGDKYSLRQ DGAVCELQIH GLAMADNGVY SCVCGQERTS ATLTVRALPA RFIEDMRNQK
ATEGATVTLQ CKLRKAAPVE WRKGPNTLKD GDRYSLKQDG TSCELQIRGL VIADAGEYSC
ICEQERTSAT LTVRALPARF IEDVRNHEAT EGATAVLQCE LSKAAPVEWR KGSETLRDGD
RYSLRQDGTR CELQIRGLAV EDTGEYLCVC GQERTSATLT VRALPARFID NMTNQEAREG
ATATLHCELS KVAPVEWRKG PETLRDGDRH SLRQDGTRCE LQIRGLSVAD AGEYSCVCGQ
ERTSATLTIR ALPAKFTKGL RNEEATEGAT AMLQCELSKV APVEWRKGPE TLRDGDRYNL
RQDGTRCELQ IHGLSVADTG EYSCVCGQEK TSATLTVKAP QPVFREPLQS LQAEEGSTAT
LQCELSEPTA TVVWSKGGLQ LQANGRREPR LQGCTAELVL QDLQREDTGE YTCTCGSQAT
SATLTVTAAP VRFLRELQHQ EVDEGGTAHL CCELSRAGAS VEWRKGSLQL FPCAKYQMVQ
DGAAAELLVR GVEQEDAGDY TCDTGHTQSM ASLSVRVPRP KFKTRLQSLE QETGDIARLC
CQLSDAESGA VVQWLKEGVE LHAGPKYEMR SQGATRELLI HQLEAKDTGE YACVTGGQKT
AASLRVTEPE VTIVRGLVDA EVTADEDVEF SCEVSRAGAT GVQWCLQGLP LQSNEVTEVA
VRDGRIHTLR LKGVTPEDAG TVSFHLGNHA SSAQLTVRAP EVTILEPLQD VQLSEGQDAS
FQCRLSRASG QEARWALGGV PLQANEMNDI TVEQGTLHLL TLHKVTLEDA GTVSFHVGTC
SSEAQLKVTA KNTVVRGLEN VEALEGGEAL FECQLSQPEV AAHTWLLDDE PVHTSENAEV
VFFENGLRHL LLLKNLRPQD SCRVTFLAGD MVTSAFLTVR GWRLEILEPL KNAAVRAGAQ
ACFTCTLSEA VPVGEASWYI NGAAVQPDDS DWTVTADGSH HALLLRSAQP HHAGEVTFAC
RDAVASARLT VLGLPDPPED AEVVARSSHT VTLSWAAPMS DGGGGLCGYR VEVKEGATGQ
WRLCHELVPG PECVVDGLAP GETYRFRVAA VGPVGAGEPV HLPQTVRLAE PPKPVPPQPS
APESRQVAAG EDVSLELEVV AEAGEVIWHK GMERIQPGGR FEVVSQGRQQ MLVIKGFTAE
DQGEYHCGLA QGSICPAAAT FQVALSPASV DEAPQPSLPP EAAQEGDLHL LWEALARKRR
MSREPTLDSI SELPEEDGRS QRLPQEAEEV APDLSEGYST ADELARTGDA DLSHTSSDDE
SRAGTPSLVT YLKKAGRPGT SPLASKVGAP AAPSVKPQQQ QEPLAAVRPP LGDLSTKDLG
DPSMDKAAVK IQAAFKGYKV RKEMKQQEGP MFSHTFGDTE AQVGDALRLE CVVASKADVR
ARWLKDGVEL TDGRHHHIDQ LGDGTCSLLI TGLDRADAGC YTCQVSNKFG QVTHSACVVV
SGSESEAESS SGGELDDAFR RAARRLHRLF RTKSPAEVSD EELFLSADEG PAEPEEPADW
QTYREDEHFI CIRFEALTEA RQAVTRFQEM FATLGIGVEI KLVEQGPRRV EMCISKETPA
PVVPPEPLPS LLTSDAAPVF LTELQNQEVQ DGYPVSFDCV VTGQPMPSVR WFKDGKLLEE
DDHYMINEDQ QGGHQLIITA VVPADMGVYR CLAENSMGVS STKAELRVDL TSTDYDTAAD
ATESSSYFSA QGYLSSREQE GTESTTDEGQ LPQVVEELRD LQVAPGTRLA KFQLKVKGYP
APRLYWFKDG QPLTASAHIR MTDKKILHTL EIISVTREDS GQYAAYISNA MGAAYSSARL
LVRGPDEPEE KPASDVHEQL VPPRMLERFT PKKVKKGSSI TFSVKVEGRP VPTVHWLREE
AERGVLWIGP DTPGYTVASS AQQHSLVLLD VGRQHQGTYT CIASNAAGQA LCSASLHVSG
LPKVEEQEKV KEALISTFLQ GTTQAISAQG LETASFADLG GQRKEEPLAA KEALGHLSLA
EVGTEEFLQK LTSQITEMVS AKITQAKLQV PGGDSDEDSK TPSASPRHGR SRPSSSIQES
SSESEDGDAR GEIFDIYVVT ADYLPLGAEQ DAITLREGQY VEVLDAAHPL RWLVRTKPTK
SSPSRQGWVS PAYLDRRLKL SPEWGAAEAP EFPGEAVSED EYKARLSSVI QELLSSEQAF
VEELQFLQSH HLQHLERCPH VPIAVAGQKA VIFRNVRDIG RFHSSFLQEL QQCDTDDDVA
MCFIKNQAAF EQYLEFLVGR VQAESVVVST AIQEFYKKYA EEALLAGDPS QPPPPPLQHY
LEQPVERVQR YQALLKELIR NKARNRQNCA LLEQAYAVVS ALPQRAENKL HVSLMENYPG
TLQALGEPIR QGHFIVWEGA PGARMPWKGH NRHVFLFRNH LVICKPRRDS RTDTVSYVFR
NMMKLSSIDL NDQVEGDDRA FEVWQEREDS VRKYLLQART AIIKSSWVKE ICGIQQRLAL
PVWRPPDFEE ELADCTAELG ETVKLACRVT GTPKPVISWY KDGKAVQVDP HHILIEDPDG
SCALILDSLT GVDSGQYMCF AASAAGNCST LGKILVQVPP RFVNKVRASP FVEGEDAQFT
CTIEGAPYPQ IRWYKDGALL TTGNKFQTLS EPRSGLLVLV IRAASKEDLG LYECELVNRL
GSARASAELR IQSPMLQAQE QCHREQLVAA VEDTTLERAD QEVTSVLKRL LGPKAPGPST
GDLTGPGPCP RGAPALQETG SQPPVTGTSE APAVPPRVPQ PLLHEGPEQE PEAIARAQEW
TVPIRMEGAA WPGAGTGELL WDVHSHVVRE TTQRTYTYQA IDTHTARPPS MQVTIEDVQA
QTGGTAQFEA IIEGDPQPSV TWYKDSVQLV DSTRLSQQQE GTTYSLVLRH VASKDAGVYT
CLAQNTGGQV LCKAELLVLG GDNEPDSEKQ SHRRKLHSFY EVKEEIGRGV FGFVKRVQHK
GNKILCAAKF IPLRSRTRAQ AYRERDILAA LSHPLVTGLL DQFETRKTLI LILELCSSEE
LLDRLYRKGV VTEAEVKVYI QQLVEGLHYL HSHGVLHLDI KPSNILMVHP AREDIKICDF
GFAQNITPAE LQFSQYGSPE FVSPEIIQQN PVSEASDIWA MGVISYLSLT CSSPFAGESD
RATLLNVLEG RVSWSSPMAA HLSEDAKDFI KATLQRAPQA RPSAAQCLSH PWFLKSMPAE
EAHFINTKQL KFLLARSRWQ RSLMSYKSIL VMRSIPELLR GPPDSPSLGV ARHLCRDTGG
SSSSSSSSDN ELAPFARAKS LPPSPVTHSP LLHPRGFLRP SASLPEEAEA SERSTEAPAP
PASPEGAGPP AAQGCVPRHS VIRSLFYHQA GESPEHGALA PGSRRHPARR RHLLKGGYIA
GALPGLREPL MEHRVLEEEA AREEQATLLA KAPSFETALR LPASGTHLAP GHSHSLEHDS
PSTPRPSSEA CGEAQRLPSA PSGGAPIRDM GHPQGSKQLP STGGHPGTAQ PERPSPDSPW
GQPAPFCHPK QGSAPQEGCS PHPAVAPCPP GSFPPGSCKE APLVPSSPFL GQPQAPPAPA
KASPPLDSKM GPGDISLPGR PKPGPCSSPG SASQASSSQV SSLRVGSSQV GTEPGPSLDA
EGWTQEAEDL SDSTPTLQRP QEQATMRKFS LGGRGGYAGV AGYGTFAFGG DAGGMLGQGP
MWARIAWAVS QSEEEEQEEA RAESQSEEQQ EARAESPLPQ VSARPVPEVG RAPTRSSPEP
TPWEDIGQVS LVQIRDLSGD AEAADTISLD ISEVDPAYLN LSDLYDIKYL PFEFMIFRKV
PKSAQPEPPS PMAEEELAEF PEPTWPWPGE LGPHAGLEIT EESEDVDALL AEAAVGRKRK
WSSPSRSLFH FPGRHLPLDE PAELGLRERV KASVEHISRI LKGRPEGLEK EGPPRKKPGL
ASFRLSGLKS WDRAPTFLRE LSDETVVLGQ SVTLACQVSA QPAAQATWSK DGAPLESSSR
VLISATLKNF QLLTILVVVA EDLGVYTCSV SNALGTVTTT GVLRKAERPS SSPCPDIGEV
YADGVLLVWK PVESYGPVTY IVQCSLEGGS WTTLASDIFD CCYLTSKLSR GGTYTFRTAC
VSKAGMGPYS SPSEQVLLGG PSHLASEEES QGRSAQPLPS TKTFAFQTQI QRGRFSVVRQ
CWEKASGRAL AAKIIPYHPK DKTAVLREYE ALKGLRHPHL AQLHAAYLSP RHLVLILELC
SGPELLPCLA ERASYSESEV KDYLWQMLSA TQYLHNQHIL HLDLRSENMI ITEYNLLKVV
DLGNAQSLSQ EKVLPSDKFK DYLETMELLE GQGAVPQTDI WAIGVTAFIM LSAEYPVSSE
GARDLQRGLR KGLVRLSRCY AGLSGGAVAF LRSTLCAQPW GRPCASSCLQ CPWLTEEGPA
CSRPAPVTFP TARLRVFVRN REKRRALLYK RHNLAQVR*
mutated AA sequence MDQPQFSGAP RFLTRPKAFV VSVGKDATLS CQIVGNPTPQ VSWEKDQQPV AAGARFRLAQ
DGDLYRLTIL DLALGDSGQY VCRARNAIGE AFAAVGLQVD AEAACAEQAP HFLLRPTSIR
VREGSEATFR CRVGGSPRPA VSWSKDGRRL GEPDGPRVRV EELGEASALR IRAARPRDGG
TYEVRAENPL GAASAAAALV VDSDAADTAS RPGTSTAALL AHLQRRREAM RAEGAPASPP
STGTRTCTVT EGKHARLSCY VTGEPKPETV WKKDGQLVTE GRRHVVYEDA QENFVLKILF
CKQSDRGLYT CTASNLVGQT YSSVLVVVRE PAVPFKKRLQ DLEVREKESA TFLCEVPQPS
TEAAWFKEET RLWASAKYGI EEEGTERRLT VRNVSADDDA VYICETPEGS RTVAELAVQG
NLLRKLPRKT AVRVGDTAMF CVELAVPVGP VHWLRNQEEV VAGGRVAISA EGTRHTLTIS
QCCLEDVGQV AFMAGDCQTS TQFCVSAPRK PPLQPPVDPV VKARMESSVI LSWSPPPHGE
RPVTIDGYLV EKKKLGTYTW IRCHEAEWVA TPELTVADVA EEGNFQFRVS ALNSFGQSPY
LEFPGTVHLA PKLAVRTPLK AVQAVEGGEV TFSVDLTVAS AGEWFLDGQA LKASSVYEIH
CDRTRHTLTI REVPASLHGA QLKFVANGIE SSIRMEVRAA PGLTANKPPA AAAREVLARL
HEEAQLLAEL SDQAAAVTWL KDGRTLSPGP KYEVQASAGR RVLLVRDVAR DDAGLYECVS
RGGRIAYQLS VQGLARFLHK DMAGSCVDAV AGGPAQFECE TSEAHVHVHW YKDGMELGHS
GERFLQEDVG TRHRLVAATV TRQDEGTYSC RVGEDSVDFR LRVSEPKVVF AKEQLARRKL
QAEAGASATL SCEVAQAQTE VTWYKDGKKL SSSSKVCMEA TGCTRRLVVQ QAGQADAGEY
SCEAGGQRLS FHLDVKEPKV VFAKDQVAHS EVQAEAGASA TLSCEVAQAQ TEVMWYKDGK
KLSSSLKVHV EAKGCRRRLV VQQAGKTDAG DYSCEARGQR VSFRLHITEP KMMFAKEQSV
HNEVQAEAGA SAMLSCEVAQ AQTEVTWYKD GKKLSSSSKV GMEVKGCTRR LVLPQAGKAD
AGEYSCEAGG QRVSFHLHIT EPKGVFAKEQ SVHNEVQAEA GTTAMLSCEV AQPQTEVTWY
KDGKKLSSSS KVRMEVKGCT RRLVVQQVGK ADAGEYSCEA GGQRVSFQLH ITEPKAVFAK
EQLVHNEVRT EAGASATLSC EVAQAQTEVT WYKDGKKLSS SSKVRIEAAG CMRQLVVQQA
GQADAGEYTC EAGGQRLSFH LDVSEPKAVF AKEQLAHRKV QAEAGAIATL SCEVAQAQTE
VTWYKDGKKL SSSSKVRMEA VGCTRRLVVQ QACQADTGEY SCEAGGQRLS FSLDVAEPKV
VFAKEQPVHR EVQAQAGAST TLSCEVAQAQ TEVMWYKDGK KLSFSSKVRM EAVGCTRRLV
VQQAGQAVAG EYSCEAGSQR LSFHLHVAEP KAVFAKEQPA HREVQAEAGA SATLSCEVAQ
AQTEVTWYKD GKKLSSSLKV HVEAAGCTRR LVVQQAGQAD TGEYSCEAGG QQLSFRLQVA
EPKAVFAKEQ PASREVQAEA GTSATLSCEV AQAQTEVTWY KDGKKLSSSS KVRMEAVGCT
RRLVVQEAGQ ADAGEYSCKA GDQRLSFHLH VAEPKVVFAK EQPAHREVQA EAGASATLSC
EVAQAQTEVT WYKDGKKLSS SSKVRVEAVG CTRRLVVQQA GQAEAGEYSC EAGGQQLSFR
LQVAEPKVVF AKEQPACREV QAEAGASATL SCEVAQGQME VTWYKDGKKL SSSSKVHMEA
SGYTRRLVVQ QAGQADAGEY SCEAGGQRLS FRLHVAELEP QISERPCRRE PLVVKEHEDI
ILTATLATPS AATVTWLKDG VEIRRSKRHE TASQGDTHTL TVHGAQVLDS AIYSCRVGAE
GQDFPVQVEE VAAKFCRLLE PVCGELGGTV TLACELSPAC AEVVWRCGNT QLRVGKRFQM
VAEGPVRSLT VLGLRAEDAG EYVCESRDDH TSAQLTVSVP RVVKFMSGLS TVVAEEGGEA
TFQCVVSPSD VAVVWFRDGA LLQPSEKFAI SQSGASHSLT ISDLVLEDAG QITVEAEGAS
SSAALRVREA PVLFKKKLEP QTVEERSSVT LEVELTRPWP ELRWTRNATA LAPGKNVEIH
AEGARHRLVL HNVGFADRGF FGCETPDDKT QAKLTVEMRQ VRLVRGLQAV EAREQGTATM
EVQLSHADVD GSWTRDGLRF QQGPTCHLAV RGPMHTLTLS GLRPEDSGLM VFKAEGVHTS
ARLVVTELPV SFSRPLQDVV TTEKEKVTLE CELSRPNVDV RWLKDGVELR AGKTMAIAAQ
GACRSLTIYR CEFADQGVYV CDAHDAQSSA SVKVQGRTYT LIYRRVLAED AGEIQFVAEN
AESRAQLRVK ELPVTLVRPL RDKIAMEKHR GVLECQVSRA SAQVRWFKGS QELQPGPKYE
LVSDGLYRKL IISDVHAEDE DTYTCDAGDV KTSAQFFVEE QSITIVRGLQ DVTVMEPAPA
WFECETSIPS VRPPKWLLGK TVLQAGGNVG LEQEGTVHRL MLRRTCSTMT GPVHFTVGKS
RSSARLVVSD IPVVLTRPLE PKTGRELQSV VLSCDFRPAP KAVQWYKDDT PLSPSEKFKM
SLEGQMAELR ILRLMPADAG VYRCQAGSAH SSTEVTVEAR EVTVTGPLQD AEATEEGWAS
FSCELSHEDE EVEWSLNGMP LYNDSFHEIS HKGRRHTLVL KSIQRADAGI VRASSLKVST
SARLEVRVKP VVFLKALDDL SAEERGTLAL QCEVSDPEAH VVWRKDGVQL GPSDKYDFLH
TAGTRGLVVH DVSPEDAGLY TCHVGSEETR ARVRVHDLHV GITKRLKTME VLEGESCSFE
CVLSHESASD PAMWTVGGKT VGSSSRFQAT RQGRKYILVV REAAPSDAGE VVFSVRGLTS
KASLIVRERP AAIIKPLEDQ WVAPGEDVEL RCELSRAGTP VHWLKDRKAI RKSQKYDVVC
EGTMAMLVIR GASLKDAGEY TCEVEASKST ASLHVEEKAN CFTEELTNLQ VEEKGTAVFT
CKTEHPAATV TWRKGLLELR ASGKHQPSQE GLTLRLTISA LEKADSDTYT CDIGQAQSRA
QLLVQGRRVH IIEDLEDVDV QEGSSATFRC RISPANYEPV HWFLDKTPLH ANELNEIDAQ
PGGYHVLTLR QLALKDSGTI YFEAGDQRAS AALRVTEKPS VFSRELTDAT ITEGEDLTLV
CETSTCDIPV CWTKDGKTLR GSARCQLSHE GHRAQLLITG ATLQDSGRYK CEAGGACSSS
IVRVHARPVR FQEALKDLEV LEGGAATLRC VLSSVAAPVK WCYGNNVLRP GDKYSLRQEG
AMLELVVRNL RPQDSGRYSC SFGDQTTSAT LTVTALPAQF IGKLRNKEAT EGATATLRCE
LSKAAPVEWR KGSETLRDGD RYCLRQDGAM CELQIRGLAM VDAAEYSCVC GEERTSASLT
IRPMPAHFIG RLRHQESIEG ATATLRCELS KAAPVEWRKG RESLRDGDRH SLRQDGAVCE
LQICGLAVAD AGEYSCVCGE ERTSATLTVK ALPAKFTEGL RNEEAVEGAT AMLWCELSKV
APVEWRKGPE NLRDGDRYIL RQEGTRCELQ ICGLAMADAG EYLCVCGQER TSATLTIRAL
PARFIEDVKN QEAREGATAV LQCELNSAAP VEWRKGSETL RDGDRYSLRQ DGTKCELQIR
GLAMADTGEY SCVCGQERTS AMLTVRALPI KFTEGLRNEE ATEGATAVLR CELSKMAPVE
WWKGHETLRD GDRHSLRQDG ARCELQIRGL VAEDAGEYLC MCGKERTSAM LTVRAMPSKF
IEGLRNEEAT EGDTATLWCE LSKAAPVEWR KGHETLRDGD RHSLRQDGSR CELQIRGLAV
VDAGEYSCVC GQERTSATLT VRALPARFIE DVKNQEAREG ATAVLQCELS KAAPVEWRKG
SETLRGGDRY SLRQDGTRCE LQIHGLSVAD TGEYSCVCGQ ERTSATLTVR ALPARFTQDL
KTKEASEGAT ATLQCELSKV APVEWKKGPE TLRDGGRYSL KQDGTRCELQ IHDLSVADAG
EYSCMCGQER TSATLTVRAL PARFTEGLRN EEAMEGATAT LQCELSKAAP VEWRKGLEAL
RDGDKYSLRQ DGAVCELQIH GLAMADNGVY SCVCGQERTS ATLTVRALPA RFIEDMRNQK
ATEGATVTLQ CKLRKAAPVE WRKGPNTLKD GDRYSLKQDG TSCELQIRGL VIADAGEYSC
ICEQERTSAT LTVRALPARF IEDVRNHEAT EGATAVLQCE LSKAAPVEWR KGSETLRDGD
RYSLRQDGTR CELQIRGLAV EDTGEYLCVC GQERTSATLT VRALPARFID NMTNQEAREG
ATATLHCELS KVAPVEWRKG PETLRDGDRH SLRQDGTRCE LQIRGLSVAD AGEYSCVCGQ
ERTSATLTIR ALPAKFTKGL RNEEATEGAT AMLQCELSKV APVEWRKGPE TLRDGDRYNL
RQDGTRCELQ IHGLSVADTG EYSCVCGQEK TSATLTVKAP QPVFREPLQS LQAEEGSTAT
LQCELSEPTA TVVWSKGGLQ LQANGRREPR LQGCTAELVL QDLQREDTGE YTCTCGSQAT
SATLTVTAAP VRFLRELQHQ EVDEGGTAHL CCELSRAGAS VEWRKGSLQL FPCAKYQMVQ
DGAAAELLVR RVEQEDAGDY TCDTGHTQSM ASLSVRVPRP KFKTRLQSLE QETGDIARLC
CQLSDAESGA VVQWLKEGVE LHAGPKYEMR SQGATRELLI HQLEAKDTGE YACVTGGQKT
AASLRVTEPE VTIVRGLVDA EVTADEDVEF SCEVSRAGAT GVQWCLQGLP LQSNEVTEVA
VRDGRIHTLR LKGVTPEDAG TVSFHLGNHA SSAQLTVRAP EVTILEPLQD VQLSEGQDAS
FQCRLSRASG QEARWALGGV PLQANEMNDI TVEQGTLHLL TLHKVTLEDA GTVSFHVGTC
SSEAQLKVTA KNTVVRGLEN VEALEGGEAL FECQLSQPEV AAHTWLLDDE PVHTSENAEV
VFFENGLRHL LLLKNLRPQD SCRVTFLAGD MVTSAFLTVR GWRLEILEPL KNAAVRAGAQ
ACFTCTLSEA VPVGEASWYI NGAAVQPDDS DWTVTADGSH HALLLRSAQP HHAGEVTFAC
RDAVASARLT VLGLPDPPED AEVVARSSHT VTLSWAAPMS DGGGGLCGYR VEVKEGATGQ
WRLCHELVPG PECVVDGLAP GETYRFRVAA VGPVGAGEPV HLPQTVRLAE PPKPVPPQPS
APESRQVAAG EDVSLELEVV AEAGEVIWHK GMERIQPGGR FEVVSQGRQQ MLVIKGFTAE
DQGEYHCGLA QGSICPAAAT FQVALSPASV DEAPQPSLPP EAAQEGDLHL LWEALARKRR
MSREPTLDSI SELPEEDGRS QRLPQEAEEV APDLSEGYST ADELARTGDA DLSHTSSDDE
SRAGTPSLVT YLKKAGRPGT SPLASKVGAP AAPSVKPQQQ QEPLAAVRPP LGDLSTKDLG
DPSMDKAAVK IQAAFKGYKV RKEMKQQEGP MFSHTFGDTE AQVGDALRLE CVVASKADVR
ARWLKDGVEL TDGRHHHIDQ LGDGTCSLLI TGLDRADAGC YTCQVSNKFG QVTHSACVVV
SGSESEAESS SGGELDDAFR RAARRLHRLF RTKSPAEVSD EELFLSADEG PAEPEEPADW
QTYREDEHFI CIRFEALTEA RQAVTRFQEM FATLGIGVEI KLVEQGPRRV EMCISKETPA
PVVPPEPLPS LLTSDAAPVF LTELQNQEVQ DGYPVSFDCV VTGQPMPSVR WFKDGKLLEE
DDHYMINEDQ QGGHQLIITA VVPADMGVYR CLAENSMGVS STKAELRVDL TSTDYDTAAD
ATESSSYFSA QGYLSSREQE GTESTTDEGQ LPQVVEELRD LQVAPGTRLA KFQLKVKGYP
APRLYWFKDG QPLTASAHIR MTDKKILHTL EIISVTREDS GQYAAYISNA MGAAYSSARL
LVRGPDEPEE KPASDVHEQL VPPRMLERFT PKKVKKGSSI TFSVKVEGRP VPTVHWLREE
AERGVLWIGP DTPGYTVASS AQQHSLVLLD VGRQHQGTYT CIASNAAGQA LCSASLHVSG
LPKVEEQEKV KEALISTFLQ GTTQAISAQG LETASFADLG GQRKEEPLAA KEALGHLSLA
EVGTEEFLQK LTSQITEMVS AKITQAKLQV PGGDSDEDSK TPSASPRHGR SRPSSSIQES
SSESEDGDAR GEIFDIYVVT ADYLPLGAEQ DAITLREGQY VEVLDAAHPL RWLVRTKPTK
SSPSRQGWVS PAYLDRRLKL SPEWGAAEAP EFPGEAVSED EYKARLSSVI QELLSSEQAF
VEELQFLQSH HLQHLERCPH VPIAVAGQKA VIFRNVRDIG RFHSSFLQEL QQCDTDDDVA
MCFIKNQAAF EQYLEFLVGR VQAESVVVST AIQEFYKKYA EEALLAGDPS QPPPPPLQHY
LEQPVERVQR YQALLKELIR NKARNRQNCA LLEQAYAVVS ALPQRAENKL HVSLMENYPG
TLQALGEPIR QGHFIVWEGA PGARMPWKGH NRHVFLFRNH LVICKPRRDS RTDTVSYVFR
NMMKLSSIDL NDQVEGDDRA FEVWQEREDS VRKYLLQART AIIKSSWVKE ICGIQQRLAL
PVWRPPDFEE ELADCTAELG ETVKLACRVT GTPKPVISWY KDGKAVQVDP HHILIEDPDG
SCALILDSLT GVDSGQYMCF AASAAGNCST LGKILVQVPP RFVNKVRASP FVEGEDAQFT
CTIEGAPYPQ IRWYKDGALL TTGNKFQTLS EPRSGLLVLV IRAASKEDLG LYECELVNRL
GSARASAELR IQSPMLQAQE QCHREQLVAA VEDTTLERAD QEVTSVLKRL LGPKAPGPST
GDLTGPGPCP RGAPALQETG SQPPVTGTSE APAVPPRVPQ PLLHEGPEQE PEAIARAQEW
TVPIRMEGAA WPGAGTGELL WDVHSHVVRE TTQRTYTYQA IDTHTARPPS MQVTIEDVQA
QTGGTAQFEA IIEGDPQPSV TWYKDSVQLV DSTRLSQQQE GTTYSLVLRH VASKDAGVYT
CLAQNTGGQV LCKAELLVLG GDNEPDSEKQ SHRRKLHSFY EVKEEIGRGV FGFVKRVQHK
GNKILCAAKF IPLRSRTRAQ AYRERDILAA LSHPLVTGLL DQFETRKTLI LILELCSSEE
LLDRLYRKGV VTEAEVKVYI QQLVEGLHYL HSHGVLHLDI KPSNILMVHP AREDIKICDF
GFAQNITPAE LQFSQYGSPE FVSPEIIQQN PVSEASDIWA MGVISYLSLT CSSPFAGESD
RATLLNVLEG RVSWSSPMAA HLSEDAKDFI KATLQRAPQA RPSAAQCLSH PWFLKSMPAE
EAHFINTKQL KFLLARSRWQ RSLMSYKSIL VMRSIPELLR GPPDSPSLGV ARHLCRDTGG
SSSSSSSSDN ELAPFARAKS LPPSPVTHSP LLHPRGFLRP SASLPEEAEA SERSTEAPAP
PASPEGAGPP AAQGCVPRHS VIRSLFYHQA GESPEHGALA PGSRRHPARR RHLLKGGYIA
GALPGLREPL MEHRVLEEEA AREEQATLLA KAPSFETALR LPASGTHLAP GHSHSLEHDS
PSTPRPSSEA CGEAQRLPSA PSGGAPIRDM GHPQGSKQLP STGGHPGTAQ PERPSPDSPW
GQPAPFCHPK QGSAPQEGCS PHPAVAPCPP GSFPPGSCKE APLVPSSPFL GQPQAPPAPA
KASPPLDSKM GPGDISLPGR PKPGPCSSPG SASQASSSQV SSLRVGSSQV GTEPGPSLDA
EGWTQEAEDL SDSTPTLQRP QEQATMRKFS LGGRGGYAGV AGYGTFAFGG DAGGMLGQGP
MWARIAWAVS QSEEEEQEEA RAESQSEEQQ EARAESPLPQ VSARPVPEVG RAPTRSSPEP
TPWEDIGQVS LVQIRDLSGD AEAADTISLD ISEVDPAYLN LSDLYDIKYL PFEFMIFRKV
PKSAQPEPPS PMAEEELAEF PEPTWPWPGE LGPHAGLEIT EESEDVDALL AEAAVGRKRK
WSSPSRSLFH FPGRHLPLDE PAELGLRERV KASVEHISRI LKGRPEGLEK EGPPRKKPGL
ASFRLSGLKS WDRAPTFLRE LSDETVVLGQ SVTLACQVSA QPAAQATWSK DGAPLESSSR
VLISATLKNF QLLTILVVVA EDLGVYTCSV SNALGTVTTT GVLRKAERPS SSPCPDIGEV
YADGVLLVWK PVESYGPVTY IVQCSLEGGS WTTLASDIFD CCYLTSKLSR GGTYTFRTAC
VSKAGMGPYS SPSEQVLLGG PSHLASEEES QGRSAQPLPS TKTFAFQTQI QRGRFSVVRQ
CWEKASGRAL AAKIIPYHPK DKTAVLREYE ALKGLRHPHL AQLHAAYLSP RHLVLILELC
SGPELLPCLA ERASYSESEV KDYLWQMLSA TQYLHNQHIL HLDLRSENMI ITEYNLLKVV
DLGNAQSLSQ EKVLPSDKFK DYLETMELLE GQGAVPQTDI WAIGVTAFIM LSAEYPVSSE
GARDLQRGLR KGLVRLSRCY AGLSGGAVAF LRSTLCAQPW GRPCASSCLQ CPWLTEEGPA
CSRPAPVTFP TARLRVFVRN REKRRALLYK RHNLAQVR*
speed 1.04 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