Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999344666809 (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) chr2:186671912G>AN/A show variant in all transcripts   IGV
HGNC symbol FSIP2
Ensembl transcript ID ENST00000424728
Genbank transcript ID N/A
UniProt peptide Q5CZC0
alteration type single base exchange
alteration region CDS
DNA changes c.17879G>A
cDNA.17879G>A
g.68558G>A
AA changes R5960H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
5960
frameshift no
known variant Reference ID: rs1862066
databasehomozygous (A/A)heterozygousallele carriers
1000G75312011954
ExAC18346-392514421
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8010.804
0.5750.824
(flanking)0.1780.835
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased68562wt: 0.78 / mu: 0.86wt: CGTCAGGTTAACTTG
mu: CATCAGGTTAACTTG
 TCAG|gtta
Donor gained685610.31mu: ACATCAGGTTAACTT ATCA|ggtt
distance from splice site 1949
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      5960LTSAVINEIFQRQVNLIFCDEVSV
mutated  not conserved    5960LTSAVINEIFQHQVNLIFCDEVS
Ptroglodytes  not conserved  ENSPTRG00000039357  6048LTSAVINEIFQHQVNLIFCDEVS
Mmulatta  not conserved  ENSMMUG00000006109  637LTGAVINEIFQHQVNLIFCDEVS
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000075249  6057LTSTVINEIFQHQLNLIFSDEVP
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
59605960CONFLICTR -> H (in Ref. 3; AK126051/BAC86406).lost
61656165CONFLICTL -> Q (in Ref. 3; AK126051/BAC86406).might get lost (downstream of altered splice site)
65266526CONFLICTG -> E (in Ref. 2; CAI46017).might get lost (downstream of altered splice site)
65916591CONFLICTT -> I (in Ref. 2; BX648733).might get lost (downstream of altered splice site)
66226622CONFLICTP -> S (in Ref. 2; CAI46017).might get lost (downstream of altered splice site)
66446644CONFLICTV -> E (in Ref. 3; BAC86406).might get lost (downstream of altered splice site)
67306730CONFLICTT -> I (in Ref. 2; BX648733).might get lost (downstream of altered splice site)
67366736CONFLICTQ -> R (in Ref. 2; CAI46017).might get lost (downstream of altered splice site)
67606760CONFLICTM -> V (in Ref. 2; BX648733).might get lost (downstream of altered splice site)
67946794CONFLICTM -> V (in Ref. 2; BX648733).might get lost (downstream of altered splice site)
68836883CONFLICTT -> A (in Ref. 2; BX648733/CAI46017 and 3; AK126051/BAC86406).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 20724 / 20724
position (AA) of stopcodon in wt / mu AA sequence 6908 / 6908
position of stopcodon in wt / mu cDNA 20724 / 20724
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 1 / 1
chromosome 2
strand 1
last intron/exon boundary 20588
theoretical NMD boundary in CDS 20537
length of CDS 20724
coding sequence (CDS) position 17879
cDNA position
(for ins/del: last normal base / first normal base)
17879
gDNA position
(for ins/del: last normal base / first normal base)
68558
chromosomal position
(for ins/del: last normal base / first normal base)
186671912
original gDNA sequence snippet GATAAATGAAATTTTCCAACGTCAGGTTAACTTGATATTTT
altered gDNA sequence snippet GATAAATGAAATTTTCCAACATCAGGTTAACTTGATATTTT
original cDNA sequence snippet GATAAATGAAATTTTCCAACGTCAGGTTAACTTGATATTTT
altered cDNA sequence snippet GATAAATGAAATTTTCCAACATCAGGTTAACTTGATATTTT
wildtype AA sequence MELYLGACSK PAKVAVTKTV ASVLAADTQQ CRDGVHKTHF AGVGPAQLLD LPLGVKLPVI
PGSNAVFYTT NFGEKLFRPS YGFNLTDPYC RLLENQYKSL HDPHLKAYYK RKDILKRLKK
GGYITSNNKV VCTLRELNKY RQYLTSLKLD FERNYIKEQR ILAKQLHNIP ENNQIPQHCD
VAQVQNWLLK EGTESIKDQE RLMRHRYLDM ISRKLEQLER TAEEQRLFLM DREERRQREH
TRRKLTLRRK IEEEWKTKEM LLLTRMAEDV KREERIEEQQ HRNREESDRK KQDLLEKKMA
YHLQKMQDTG FNGEDIGKNT FKYRGQDGTH ASPKNKKKTS EDIMLVYPAG DQNTYKETHG
HTANAAHQRQ NSSNNFTKKN SASVVYQADV QDNGINQKRD GMVSKNSSIF DDRGGINISG
QGSIISAQVS PTRNFSRVSQ AFLDPSKEEK ETNADWDGRP TKRSSYLCES GPQAHATDPG
IFSSPVYTNM QQNLLQNCLQ EKVTSEELNI IIQNVMTWVV ATVTSILYPA ITKYEKRLQN
NTYPVSDDSI LSSDSSSFCS TCSEDFTYRS YTSATTKTFQ AEPCAFVVDT SVRRPTTPIK
PPPAHVEKTV VGKTCHIKGQ SIISKHKYNK TNLLYSYPKL RSCKSDSHLL ASFETGTKKS
KDATTETDSL GSSLHCDKTA KAMDEMKNLK NVFVNFKCYL KGETEVILES ILREIMSDLT
QAIPSLSSVT AEVFVEQCER EKEILLSNAH IPSVASEIVE NMLEKLESAV EKKCVEMFSQ
DLSVDIKPSL AASDELLTSS NGKPLKNSMP HTLDPMCDIA EDMVHAILEK LMTLVSFKQN
EFLHLKDTNK LSCQQHKTDP ICMFLQRAGK NKSSLESDEA SLIVNEEVQN LISNIFSQSS
LVAYIEEAIN AILGYIQTEL NNERIIASEE TVVLLQLLED ILFQLHQEPV NESFQKSRQP
RISSPSDTKE KYRLTGTRLS NSPRSGRPFP PINVPGMVLY SDDENEEIDN IVKNVLDSTF
KDEKVKSQEQ IPNHWFTKGN TCFECKRNIK PPTKPGSRSK AAFHDWELKT EPPSTNHEDI
LKKKLSSNKD ISTFSQDQKH QIEKASENIV TSILKEMLKD ISSVPFGHLD SKTGSEASVL
VSEKPQGLSH QEWIDQMFSV SEISTVAQEI TDSVLNILHK ASNYISNTTK SSISSSVHQI
SLHNSDTEHI VKEAPNKYPL KTWFDSEKKM KYLSLFDVDP EKPPWLKSGK SEPKPVDDIN
DKIIRTIFKR LKSFICPKLH MGFKSSLRSQ LSKYTAKIVN IVLCAIQNEL ELHKENLNLR
EIDHTKSLTD KGFFANTDKK LESLVTSIDD DILASPLLTC IYDMLLSSEN AHQRSISLSS
RKPKSATDSV DVQSILPNRQ DKKSFHKYLA TPCTHHSVNG GNHIKENAKL QVLERIGETL
HEMLSKLLGT HLHSQLSCSQ QSREMTNKNQ KMAAALQSNI QLISKAILDY ILAKLCGVDM
DTSFASCGLK AISESLDIDN PSFASIIEKM AKSTKIISSI VSRRVQEDNK EETKSKAKPV
APVSSKTPST KEMHPNKLKA VASDILNMVF AKLEGFANGH LEILGAINDG NKKSNKIGWE
YESTNISRDT HEASFLSALY MHAKKVSSAI LKVIQTELNV TSSDLKTSVE NPPPETQILK
YVVKLILDAV SSDMFNEMES EGGGIETYRY RPTYGSLPGG AESDSFLEDD AYTAKKIIDE
RSPQREEVKT RSLKQWALEK TLNKIEVKLK EPHISPIAPI IRNILNEIFQ STLINQLNVL
SLSHSNFNGM PHNVDEPTPQ TSVQFMDKMM DPLLSEADIT IVTDNIVRTV FHKLYSAAMT
ERNVRENRYK TITFSANVSS HEHTYKGKSS VTALDENPCT FQSRFSVADK ETKVNLAEDI
VQAILTNLET FATSKVKSLF YSQVNFTVPV ALPIQQDHST LSKALSAKDS YSDEQFSCCS
VDHTKSGKTN LCQLSLSKLN TYALQVARRN LQGIKQELDK ERENPFLTHD IGISESIASQ
IVNALLDIIS RKGKCDKNSS DKEIDLDQQK GVIEKLLNET KYRKVLQLQI QDTIEGILCD
IYEKTLFQNN LSFATPTLKC SIADKHSEEN SEMFMEGANK IIPKLSVPKS DVILISNDIV
NIVLHNLSSA ATLVINAKNP TSARLPLTFC DTFPKIDCQQ PLKGSKTERK TERFSYSRNQ
KSAYADDNQI TVVEKEDTQK SATDSCEENA NFITKTIFKR LESFATERID SLITLAFQSK
EKSFVIPELE NCKQNDSIFY DSSQVESDVN VLKISATETI LSQELTDFTF VGRREKLGST
IHLSQARLKT YADVIASAIL KLIKNDLDLE IQKIYPYQNN ILFQENIIVS EIVDSMLKML
DDKRSVKEIC FNSKENSNFS QLALSNEILL GHKEKERSTK QSLFTKYPLE QNQMILENKR
QIIVLEEIFM RNGESKNKEK GELLIAVEEL LNKLYQRVRE VTGHLPPLNE TANFISNSKI
KTSDTTQKNS FQSHINSVAN DIVESVLGKM YLVVVTSLYE NNKSRTEVEI SDHNDSLLMK
PLRFRETKQA GKISNSPRYA ISQAYSYVDS QNISVMENTL LPYLPLQVKK DLIQMVLNKI
TNFVSLPLKV SPKDNPKPCF KAHLKTRSKI TTLPKFTKKT HLGLSAAKAK SKTKLGPGEK
TLKDSRSKTA IGLSHIMSAG DAKNLLDTKL PTSELKIYAK DIIINILETI VKEFGKVKQT
KALPSDQIIA AGKIVNTVLQ ELYVTNNCNL AYPMKSSHLR LSQGNIGTGS LPKQQACFYL
ENVSSQLEHI FPREGIFKKL FDKWQTESND KENEKCKLLM IAENVLTEIS IKAKELEYSL
SLLNLPPLEN CESRFYNHFK GASTRAEDTK AQINMFGREI VEMLLEKLQL CFLSQIPTPD
SEETLSNSKE HITAKSKYGF PNKHSLSSLP IYNTKTKDQI SVGSSNQIVQ EIVETVLNML
ESFVDLQFKH ISKYEFSEIV KMPIENLSSI QQKLLNKKML PKLQPLKMFS DKSESNTINF
KENIQNILLR VHSFHSQLLT YAVNIISDML AVIKNKLDNE ISQMEPSSIS ILKENIVASE
IIGTLMDQCT YFNESLIQNL SRESLFQGAE NAYTVNQVEL ATNMKMFTSK LKEGSLGINP
SQVSKTGFVF CSDEDMKEKY RVSSDLPTSV RSSVEDTVKN SEPTKRPDSE TMPSCSTRNK
VQDHRPRESN FGSFDQTMKG NSYLPEGSFL QKLLRKASDS TEAALKQVLS FIEMGKGENL
RVFHYENLKP VVEPNQIQTT ISPLKICLAA ENIVNTVLSS CGFPSQPHTN ENREIMKPFF
ISKQSSLSEV SGGQKDNEKS LLRMQDKKIN YIPEEENENL EASREDSSFL QKLKKKEYPK
IETVKEVEAF TFADHEMGSN EVHLIARHVT TSVVTYLKNF ETTVFSEEKM SVSTWSRKKY
ESKQFLRNIY DDSSIYQCCE HLTESVLYHL TSSISDGTKK GREKEKAWEI QEATFSKIIS
IHSQVFESRS ISIGELALCI SEIIIKILFN NKIIQADIAQ KMVAIPTKYT YCPGIVSGGF
DDLFQDLLVG VIHVLSKEIE VDYHFESNVR NKSFSMHRNN SVPLCNKINR QASPRDWQFS
TQQIGQLFQK NKLSYLACKL NSLVGNLKTS ESKEVVNKVF NIVSDLFSPD ECLDTGMDSG
KIQRTYFYSS NNEQPNSILT NNLQLSSKSV FLLNVVCEKL IRILLEECTS TAFPDKGSVS
EETSAEECQL LKMLQSVEDG KSDYRKGGMD CECLQVDYMS DLLENVAEID QDLLTSDSML
TIISHSLVKS LMDKLSHSIQ QAPESLPFAN KHLNYRTREI QSSFIKARKS ELIELGQSKS
SLELRSYDSN SLTVSLNNPS VVSSKIQAPF NKHCAVKSSS VSPFERQRTK EMDKVAIHNK
LHQEGIYAGV YSATFLEGII SELFFNLSMS LWGKNKNITV SWLNEMNTLF VNNVVNEFNN
AQVTVLRNAE ERLCFPPVHT ETVSKIVDSV YYDVLQQYEL KVACGNNPVY DNASIAEQIT
NGILLEILDY KLPSCFKEHL IPHSYYPLKP EIILQKLQSN LTEFTSLPRS SSDYSTMLSH
SFLEDVIRRL LSQLIPPPIT CSSLGKKYLM SSDFNEMSTC IINKVMSAIS KHKIWFTIYD
NQYLYTGKNL QKMVDSVYCN ILQMSDSLVS IQKSIVSRSP IMIDQIASFI IQEIIENHLQ
PFLSGEVLCH PRTPLDPVST IVTQVLSEVI ESHRPQKQSP LDIHLDSFVR EIVARLLSKI
FSPKHNTEIE LKNMTQRIVN SINRHFNKAK IHILYDDKEQ AFFSFNTDIV DELATSVYRN
ALKQHGLDLA VDKESEDSGI FVENITNLIV AAISDYLLHP LFSGDFSAST YSNSVAENIV
QDILSNISKS TEPSQSVPLY NTLLPYTFLE DMIRVLLSKL FSSASSLVLN RDTQKDISRV
NFNDIASNLV SDIRMKVSQH EIRFSKEEEE TKFIYSEDDI QHLVDSVFAN VVQTSGSQES
AVQNITSSND ILIDRIAGFI IKHICQKHLQ PFVSGKSLSS SDTYFDDERR QLFYTSVYSS
TFLEDVISGV LRKIFHRVVG IVQTKSIRDS EDELFEKAEE LIHLITGEFS KAQVSIIDNT
EERLCLPPVE RDVVKTIVDM VYSKVLQEYE MEVVPNKDFL NDTKTLAARI TNIILAEIFD
FQIHPDLIAN LPFKSHSKLS ANVLIQRVQY DISKSRFQRQ ASTMYTTMLS HSHLEKIVTQ
LTSQISPLNT SAEQSDTTKS DLSNTVIKLI NEIMSIISKH EICIIKYGNK KQSMISAKDI
QSMVDSIYAD LSHSNIYQSI TKDKKSISDI PVSKIASFII KEIFNHHIQS FLSEDKTLLL
AAVDQTYKLK AIDPKQRELS FIVNSSVFLE EVISELLCKI LYAFSHNMLV TENPDRVKLK
LTRIVTTLVN SIVLEFTTSE ILVADNFDKN LCFSERYKEM VQKIVNSVYG KVLDQYKSLI
QIHRVIQSDT ICFGRKIYYL LLEEIYDYQV QSLVSGELES SSYSYPQADN IIRNVLNIIT
KDSHALPPYI TVLPHSLLED MVYRLLGHVF PSTHTENELK EKKFPPDDEF VEAASKLTDE
IIKEISEHEI RLSMAEDNAE SMQLEPIENL VDSICNNILK TSEFQAEVQK DADKKGCSFL
SKLAGFIMKE IMYHHLQPFL HGEESSFSDL SDYDHVSELA KSGKEKTQPS LYSATFLEDI
IIDLVHKFCS LLIITEDSKK NEMAELDIMG LALKLANSLI REFKKSDIKV LPNAEKMFSF
PPIDKETVDK ISNFVYEQFI EKCTSHDIQK GDESNIAIGM IAALTQKAIS AFRIQPLFSG
DWSSTFFSFL NPDNITQRVQ HLPQNTFTQI SRCAKENQLS LPDQSYKDTS STPDCKNMMS
TLEINRGTMN RKKSFKTKDT SVKKGDIQNP VLSSINAIMK SGMINLTSGL ATGVTNKKEV
DENKVGICTQ KHSENVSKVT STTTVKSKDT QEPNLSETFN NNEIEKKRNL IPTDKKGKDD
EIYTHFSLII DDTEYEKEVL GSDSEIGYKK KIDNARESSF KKDDKLFQLS SLKSKRNLGT
TTDTLEIRIR TSSNEGRRDS PTQTCRDEEH HSDYEHVQNV IENIFEDVLE LSSSPEPAYY
SKLSYDQSPP GDNVLNVIQE ISRDSAQSVT TKKVSSSTNK NISAKEKEEE EREKEKVREE
IKSEPSKPDD PQNQRESKPG IFPAKFLEDV ITEMVKQLIF SSIPETQIQD RCQNVSDKQN
QAKLYDTAMK LINSLLKEFS DAQIKVFRPD KGNQFPGGKV SSVPKVPPRY KEPTTDEAPS
SIKIKSADKM PPMHKMMRKP SSDKIPSIDK TLVNKVVHSS VCNILNDYGS QDSIWKNINS
NGENLARRLT SAVINEIFQR QVNLIFCDEV SVSACLPLES KDVVKKVQKL AQTASKECQT
SSPYTIILPH KFLENVISAL FSKIFSTISS TKTKEPEDNL STELNFLQMK LVSAVATEIS
QDKYMTIQYV ETLQSDDDEI IQLVVQSVYN NLLPQFGSQE IIQNCVTSGC KILSENIVDL
VLREVASNQL QSYFCGELTP HQCVEVENIV EKILKDVFQT TDVPLPKPSH ADKLSYNIIE
EIAVKFLSKL LSIFPKVHKE RTKSLETDMQ KITSKVLNSV QEFISKSKIK LVPPTKESPT
VPVADNATIE NIVNSIYTSV LKHSGSYTSV FKDLMGKSNV LSDTIGFLMV NAISNSEFQP
QVEEEVSNSE LVLEAVKIME KVIKIIDELK SKEKSSSRKG LTLDAKLLEE VLALFLAKLI
RLPSSSSKDE KNLSKTELNK IASQLSKLVT AEISRSSISL IASDPEEHCL NPENTERIYQ
VVDSVYSNIL QQSGTNKEFY YDIKDTNTAF PKKVASLIID GVSSFPLDTI NSTISNADLS
GELDVNRIVQ KAQEHAFNVI PELEQEKLDQ NLSEEESPIK IVPHVGKKPV KIDPKIISEH
LAVISIKTQP LEKLKQECLK RTGHSIAELR RASISGRNYS LGSPDLEKRK TERRTSLDKT
GRLDVKPLEA VARNSFQNIR KPDITKVELL KDVQSKNDLI VRLVAHDIDQ VYLENYIKEE
RDSDEDEVVL TQTFAKEEGI KVFEDQVKEV KKPIQSKLSP KSTLSTSSLK KFLSLSKCCQ
TTASANIEST EAISNQVIES KETHVKRAVA ELDMATPKTM PETASSSWEE KPQCKKEEKN
LVTEPTHYFI HRIMSSSSYN QEDLISSTGE AEDCHSDPSA KILEESSQEQ KPEHGNSVKF
ITIFERSKDV LGSANPSKEV ISETPKPDVS KQGSKMLTKM SSTLSKVFSQ CNTNISRSSS
PAHQDEH*
mutated AA sequence MELYLGACSK PAKVAVTKTV ASVLAADTQQ CRDGVHKTHF AGVGPAQLLD LPLGVKLPVI
PGSNAVFYTT NFGEKLFRPS YGFNLTDPYC RLLENQYKSL HDPHLKAYYK RKDILKRLKK
GGYITSNNKV VCTLRELNKY RQYLTSLKLD FERNYIKEQR ILAKQLHNIP ENNQIPQHCD
VAQVQNWLLK EGTESIKDQE RLMRHRYLDM ISRKLEQLER TAEEQRLFLM DREERRQREH
TRRKLTLRRK IEEEWKTKEM LLLTRMAEDV KREERIEEQQ HRNREESDRK KQDLLEKKMA
YHLQKMQDTG FNGEDIGKNT FKYRGQDGTH ASPKNKKKTS EDIMLVYPAG DQNTYKETHG
HTANAAHQRQ NSSNNFTKKN SASVVYQADV QDNGINQKRD GMVSKNSSIF DDRGGINISG
QGSIISAQVS PTRNFSRVSQ AFLDPSKEEK ETNADWDGRP TKRSSYLCES GPQAHATDPG
IFSSPVYTNM QQNLLQNCLQ EKVTSEELNI IIQNVMTWVV ATVTSILYPA ITKYEKRLQN
NTYPVSDDSI LSSDSSSFCS TCSEDFTYRS YTSATTKTFQ AEPCAFVVDT SVRRPTTPIK
PPPAHVEKTV VGKTCHIKGQ SIISKHKYNK TNLLYSYPKL RSCKSDSHLL ASFETGTKKS
KDATTETDSL GSSLHCDKTA KAMDEMKNLK NVFVNFKCYL KGETEVILES ILREIMSDLT
QAIPSLSSVT AEVFVEQCER EKEILLSNAH IPSVASEIVE NMLEKLESAV EKKCVEMFSQ
DLSVDIKPSL AASDELLTSS NGKPLKNSMP HTLDPMCDIA EDMVHAILEK LMTLVSFKQN
EFLHLKDTNK LSCQQHKTDP ICMFLQRAGK NKSSLESDEA SLIVNEEVQN LISNIFSQSS
LVAYIEEAIN AILGYIQTEL NNERIIASEE TVVLLQLLED ILFQLHQEPV NESFQKSRQP
RISSPSDTKE KYRLTGTRLS NSPRSGRPFP PINVPGMVLY SDDENEEIDN IVKNVLDSTF
KDEKVKSQEQ IPNHWFTKGN TCFECKRNIK PPTKPGSRSK AAFHDWELKT EPPSTNHEDI
LKKKLSSNKD ISTFSQDQKH QIEKASENIV TSILKEMLKD ISSVPFGHLD SKTGSEASVL
VSEKPQGLSH QEWIDQMFSV SEISTVAQEI TDSVLNILHK ASNYISNTTK SSISSSVHQI
SLHNSDTEHI VKEAPNKYPL KTWFDSEKKM KYLSLFDVDP EKPPWLKSGK SEPKPVDDIN
DKIIRTIFKR LKSFICPKLH MGFKSSLRSQ LSKYTAKIVN IVLCAIQNEL ELHKENLNLR
EIDHTKSLTD KGFFANTDKK LESLVTSIDD DILASPLLTC IYDMLLSSEN AHQRSISLSS
RKPKSATDSV DVQSILPNRQ DKKSFHKYLA TPCTHHSVNG GNHIKENAKL QVLERIGETL
HEMLSKLLGT HLHSQLSCSQ QSREMTNKNQ KMAAALQSNI QLISKAILDY ILAKLCGVDM
DTSFASCGLK AISESLDIDN PSFASIIEKM AKSTKIISSI VSRRVQEDNK EETKSKAKPV
APVSSKTPST KEMHPNKLKA VASDILNMVF AKLEGFANGH LEILGAINDG NKKSNKIGWE
YESTNISRDT HEASFLSALY MHAKKVSSAI LKVIQTELNV TSSDLKTSVE NPPPETQILK
YVVKLILDAV SSDMFNEMES EGGGIETYRY RPTYGSLPGG AESDSFLEDD AYTAKKIIDE
RSPQREEVKT RSLKQWALEK TLNKIEVKLK EPHISPIAPI IRNILNEIFQ STLINQLNVL
SLSHSNFNGM PHNVDEPTPQ TSVQFMDKMM DPLLSEADIT IVTDNIVRTV FHKLYSAAMT
ERNVRENRYK TITFSANVSS HEHTYKGKSS VTALDENPCT FQSRFSVADK ETKVNLAEDI
VQAILTNLET FATSKVKSLF YSQVNFTVPV ALPIQQDHST LSKALSAKDS YSDEQFSCCS
VDHTKSGKTN LCQLSLSKLN TYALQVARRN LQGIKQELDK ERENPFLTHD IGISESIASQ
IVNALLDIIS RKGKCDKNSS DKEIDLDQQK GVIEKLLNET KYRKVLQLQI QDTIEGILCD
IYEKTLFQNN LSFATPTLKC SIADKHSEEN SEMFMEGANK IIPKLSVPKS DVILISNDIV
NIVLHNLSSA ATLVINAKNP TSARLPLTFC DTFPKIDCQQ PLKGSKTERK TERFSYSRNQ
KSAYADDNQI TVVEKEDTQK SATDSCEENA NFITKTIFKR LESFATERID SLITLAFQSK
EKSFVIPELE NCKQNDSIFY DSSQVESDVN VLKISATETI LSQELTDFTF VGRREKLGST
IHLSQARLKT YADVIASAIL KLIKNDLDLE IQKIYPYQNN ILFQENIIVS EIVDSMLKML
DDKRSVKEIC FNSKENSNFS QLALSNEILL GHKEKERSTK QSLFTKYPLE QNQMILENKR
QIIVLEEIFM RNGESKNKEK GELLIAVEEL LNKLYQRVRE VTGHLPPLNE TANFISNSKI
KTSDTTQKNS FQSHINSVAN DIVESVLGKM YLVVVTSLYE NNKSRTEVEI SDHNDSLLMK
PLRFRETKQA GKISNSPRYA ISQAYSYVDS QNISVMENTL LPYLPLQVKK DLIQMVLNKI
TNFVSLPLKV SPKDNPKPCF KAHLKTRSKI TTLPKFTKKT HLGLSAAKAK SKTKLGPGEK
TLKDSRSKTA IGLSHIMSAG DAKNLLDTKL PTSELKIYAK DIIINILETI VKEFGKVKQT
KALPSDQIIA AGKIVNTVLQ ELYVTNNCNL AYPMKSSHLR LSQGNIGTGS LPKQQACFYL
ENVSSQLEHI FPREGIFKKL FDKWQTESND KENEKCKLLM IAENVLTEIS IKAKELEYSL
SLLNLPPLEN CESRFYNHFK GASTRAEDTK AQINMFGREI VEMLLEKLQL CFLSQIPTPD
SEETLSNSKE HITAKSKYGF PNKHSLSSLP IYNTKTKDQI SVGSSNQIVQ EIVETVLNML
ESFVDLQFKH ISKYEFSEIV KMPIENLSSI QQKLLNKKML PKLQPLKMFS DKSESNTINF
KENIQNILLR VHSFHSQLLT YAVNIISDML AVIKNKLDNE ISQMEPSSIS ILKENIVASE
IIGTLMDQCT YFNESLIQNL SRESLFQGAE NAYTVNQVEL ATNMKMFTSK LKEGSLGINP
SQVSKTGFVF CSDEDMKEKY RVSSDLPTSV RSSVEDTVKN SEPTKRPDSE TMPSCSTRNK
VQDHRPRESN FGSFDQTMKG NSYLPEGSFL QKLLRKASDS TEAALKQVLS FIEMGKGENL
RVFHYENLKP VVEPNQIQTT ISPLKICLAA ENIVNTVLSS CGFPSQPHTN ENREIMKPFF
ISKQSSLSEV SGGQKDNEKS LLRMQDKKIN YIPEEENENL EASREDSSFL QKLKKKEYPK
IETVKEVEAF TFADHEMGSN EVHLIARHVT TSVVTYLKNF ETTVFSEEKM SVSTWSRKKY
ESKQFLRNIY DDSSIYQCCE HLTESVLYHL TSSISDGTKK GREKEKAWEI QEATFSKIIS
IHSQVFESRS ISIGELALCI SEIIIKILFN NKIIQADIAQ KMVAIPTKYT YCPGIVSGGF
DDLFQDLLVG VIHVLSKEIE VDYHFESNVR NKSFSMHRNN SVPLCNKINR QASPRDWQFS
TQQIGQLFQK NKLSYLACKL NSLVGNLKTS ESKEVVNKVF NIVSDLFSPD ECLDTGMDSG
KIQRTYFYSS NNEQPNSILT NNLQLSSKSV FLLNVVCEKL IRILLEECTS TAFPDKGSVS
EETSAEECQL LKMLQSVEDG KSDYRKGGMD CECLQVDYMS DLLENVAEID QDLLTSDSML
TIISHSLVKS LMDKLSHSIQ QAPESLPFAN KHLNYRTREI QSSFIKARKS ELIELGQSKS
SLELRSYDSN SLTVSLNNPS VVSSKIQAPF NKHCAVKSSS VSPFERQRTK EMDKVAIHNK
LHQEGIYAGV YSATFLEGII SELFFNLSMS LWGKNKNITV SWLNEMNTLF VNNVVNEFNN
AQVTVLRNAE ERLCFPPVHT ETVSKIVDSV YYDVLQQYEL KVACGNNPVY DNASIAEQIT
NGILLEILDY KLPSCFKEHL IPHSYYPLKP EIILQKLQSN LTEFTSLPRS SSDYSTMLSH
SFLEDVIRRL LSQLIPPPIT CSSLGKKYLM SSDFNEMSTC IINKVMSAIS KHKIWFTIYD
NQYLYTGKNL QKMVDSVYCN ILQMSDSLVS IQKSIVSRSP IMIDQIASFI IQEIIENHLQ
PFLSGEVLCH PRTPLDPVST IVTQVLSEVI ESHRPQKQSP LDIHLDSFVR EIVARLLSKI
FSPKHNTEIE LKNMTQRIVN SINRHFNKAK IHILYDDKEQ AFFSFNTDIV DELATSVYRN
ALKQHGLDLA VDKESEDSGI FVENITNLIV AAISDYLLHP LFSGDFSAST YSNSVAENIV
QDILSNISKS TEPSQSVPLY NTLLPYTFLE DMIRVLLSKL FSSASSLVLN RDTQKDISRV
NFNDIASNLV SDIRMKVSQH EIRFSKEEEE TKFIYSEDDI QHLVDSVFAN VVQTSGSQES
AVQNITSSND ILIDRIAGFI IKHICQKHLQ PFVSGKSLSS SDTYFDDERR QLFYTSVYSS
TFLEDVISGV LRKIFHRVVG IVQTKSIRDS EDELFEKAEE LIHLITGEFS KAQVSIIDNT
EERLCLPPVE RDVVKTIVDM VYSKVLQEYE MEVVPNKDFL NDTKTLAARI TNIILAEIFD
FQIHPDLIAN LPFKSHSKLS ANVLIQRVQY DISKSRFQRQ ASTMYTTMLS HSHLEKIVTQ
LTSQISPLNT SAEQSDTTKS DLSNTVIKLI NEIMSIISKH EICIIKYGNK KQSMISAKDI
QSMVDSIYAD LSHSNIYQSI TKDKKSISDI PVSKIASFII KEIFNHHIQS FLSEDKTLLL
AAVDQTYKLK AIDPKQRELS FIVNSSVFLE EVISELLCKI LYAFSHNMLV TENPDRVKLK
LTRIVTTLVN SIVLEFTTSE ILVADNFDKN LCFSERYKEM VQKIVNSVYG KVLDQYKSLI
QIHRVIQSDT ICFGRKIYYL LLEEIYDYQV QSLVSGELES SSYSYPQADN IIRNVLNIIT
KDSHALPPYI TVLPHSLLED MVYRLLGHVF PSTHTENELK EKKFPPDDEF VEAASKLTDE
IIKEISEHEI RLSMAEDNAE SMQLEPIENL VDSICNNILK TSEFQAEVQK DADKKGCSFL
SKLAGFIMKE IMYHHLQPFL HGEESSFSDL SDYDHVSELA KSGKEKTQPS LYSATFLEDI
IIDLVHKFCS LLIITEDSKK NEMAELDIMG LALKLANSLI REFKKSDIKV LPNAEKMFSF
PPIDKETVDK ISNFVYEQFI EKCTSHDIQK GDESNIAIGM IAALTQKAIS AFRIQPLFSG
DWSSTFFSFL NPDNITQRVQ HLPQNTFTQI SRCAKENQLS LPDQSYKDTS STPDCKNMMS
TLEINRGTMN RKKSFKTKDT SVKKGDIQNP VLSSINAIMK SGMINLTSGL ATGVTNKKEV
DENKVGICTQ KHSENVSKVT STTTVKSKDT QEPNLSETFN NNEIEKKRNL IPTDKKGKDD
EIYTHFSLII DDTEYEKEVL GSDSEIGYKK KIDNARESSF KKDDKLFQLS SLKSKRNLGT
TTDTLEIRIR TSSNEGRRDS PTQTCRDEEH HSDYEHVQNV IENIFEDVLE LSSSPEPAYY
SKLSYDQSPP GDNVLNVIQE ISRDSAQSVT TKKVSSSTNK NISAKEKEEE EREKEKVREE
IKSEPSKPDD PQNQRESKPG IFPAKFLEDV ITEMVKQLIF SSIPETQIQD RCQNVSDKQN
QAKLYDTAMK LINSLLKEFS DAQIKVFRPD KGNQFPGGKV SSVPKVPPRY KEPTTDEAPS
SIKIKSADKM PPMHKMMRKP SSDKIPSIDK TLVNKVVHSS VCNILNDYGS QDSIWKNINS
NGENLARRLT SAVINEIFQH QVNLIFCDEV SVSACLPLES KDVVKKVQKL AQTASKECQT
SSPYTIILPH KFLENVISAL FSKIFSTISS TKTKEPEDNL STELNFLQMK LVSAVATEIS
QDKYMTIQYV ETLQSDDDEI IQLVVQSVYN NLLPQFGSQE IIQNCVTSGC KILSENIVDL
VLREVASNQL QSYFCGELTP HQCVEVENIV EKILKDVFQT TDVPLPKPSH ADKLSYNIIE
EIAVKFLSKL LSIFPKVHKE RTKSLETDMQ KITSKVLNSV QEFISKSKIK LVPPTKESPT
VPVADNATIE NIVNSIYTSV LKHSGSYTSV FKDLMGKSNV LSDTIGFLMV NAISNSEFQP
QVEEEVSNSE LVLEAVKIME KVIKIIDELK SKEKSSSRKG LTLDAKLLEE VLALFLAKLI
RLPSSSSKDE KNLSKTELNK IASQLSKLVT AEISRSSISL IASDPEEHCL NPENTERIYQ
VVDSVYSNIL QQSGTNKEFY YDIKDTNTAF PKKVASLIID GVSSFPLDTI NSTISNADLS
GELDVNRIVQ KAQEHAFNVI PELEQEKLDQ NLSEEESPIK IVPHVGKKPV KIDPKIISEH
LAVISIKTQP LEKLKQECLK RTGHSIAELR RASISGRNYS LGSPDLEKRK TERRTSLDKT
GRLDVKPLEA VARNSFQNIR KPDITKVELL KDVQSKNDLI VRLVAHDIDQ VYLENYIKEE
RDSDEDEVVL TQTFAKEEGI KVFEDQVKEV KKPIQSKLSP KSTLSTSSLK KFLSLSKCCQ
TTASANIEST EAISNQVIES KETHVKRAVA ELDMATPKTM PETASSSWEE KPQCKKEEKN
LVTEPTHYFI HRIMSSSSYN QEDLISSTGE AEDCHSDPSA KILEESSQEQ KPEHGNSVKF
ITIFERSKDV LGSANPSKEV ISETPKPDVS KQGSKMLTKM SSTLSKVFSQ CNTNISRSSS
PAHQDEH*
speed 1.30 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