Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999874792 (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) chr14:64519455A>GN/A show variant in all transcripts   IGV
HGNC symbol SYNE2
Ensembl transcript ID ENST00000344113
Genbank transcript ID NM_015180
UniProt peptide Q8WXH0
alteration type single base exchange
alteration region CDS
DNA changes c.8824A>G
cDNA.9036A>G
g.199773A>G
AA changes I2942V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2942
frameshift no
known variant Reference ID: rs3829767
databasehomozygous (G/G)heterozygousallele carriers
1000G12298732102
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8840.317
-1.0190.008
(flanking)1.7140.01
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 increased199766wt: 0.9506 / mu: 0.9631 (marginal change - not scored)wt: GTGGAACACAAGATA
mu: GTGGAACACAAGGTA		 GGAA|caca
Donor marginally increased199772wt: 0.9944 / mu: 0.9980 (marginal change - not scored)wt: CACAAGATAAAGTTT
mu: CACAAGGTAAAGTTT		 CAAG|ataa
Donor gained1997670.82mu: TGGAACACAAGGTAA GAAC|acaa
distance from splice site 921
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2942IQNTCNEVEHKIKFCRQFHEKTSA
mutated  all conserved    2942KVKFCRQFHEKTS
Ptroglodytes  all identical  ENSPTRG00000006429  2942KIKFCRQFHEKTS
Mmulatta  no alignment  ENSMMUG00000001008  n/a
Fcatus  no alignment  ENSFCAG00000013352  n/a
Mmusculus  all conserved  ENSMUSG00000063450  2932LQNNGSELKQKMESYREFHDKAA
Ggallus  all identical  ENSGALG00000011811  2940IQSKCHEVGKKIAAYREFAEGIK
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0000667  n/a
Celegans  no alignment  W04D2.1  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
16834TOPO_DOMCytoplasmic (Potential).lost
28662975COILEDPotential.lost
30143057COILEDPotential.might get lost (downstream of altered splice site)
30873132COILEDPotential.might get lost (downstream of altered splice site)
31153115CONFLICTF -> S (in Ref. 1; AAL33548).might get lost (downstream of altered splice site)
31933193CONFLICTE -> G (in Ref. 1; AAL33548).might get lost (downstream of altered splice site)
32073241COILEDPotential.might get lost (downstream of altered splice site)
32973428COILEDPotential.might get lost (downstream of altered splice site)
34643505COILEDPotential.might get lost (downstream of altered splice site)
35533584COILEDPotential.might get lost (downstream of altered splice site)
36553723COILEDPotential.might get lost (downstream of altered splice site)
37783799COILEDPotential.might get lost (downstream of altered splice site)
38533911COILEDPotential.might get lost (downstream of altered splice site)
39513951CONFLICTQ -> L (in Ref. 2; AAL33802).might get lost (downstream of altered splice site)
39714069COILEDPotential.might get lost (downstream of altered splice site)
40014001CONFLICTW -> Q (in Ref. 3; AAN60443).might get lost (downstream of altered splice site)
41084108MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
41104110MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
41114111MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
41584158CONFLICTS -> F (in Ref. 2; AAL33802 and 3).might get lost (downstream of altered splice site)
42094209CONFLICTI -> T (in Ref. 2; AAL33802 and 3).might get lost (downstream of altered splice site)
42724299COILEDPotential.might get lost (downstream of altered splice site)
43074339COILEDPotential.might get lost (downstream of altered splice site)
43274327CONFLICTE -> Q (in Ref. 2; AAL33802 and 3).might get lost (downstream of altered splice site)
44184418CONFLICTN -> K (in Ref. 2; AAL33802 and 3).might get lost (downstream of altered splice site)
44934536COILEDPotential.might get lost (downstream of altered splice site)
46364701COILEDPotential.might get lost (downstream of altered splice site)
47134713CONFLICTE -> G (in Ref. 1; AAL33548).might get lost (downstream of altered splice site)
47334733CONFLICTP -> S (in Ref. 2; AAL33802 and 3).might get lost (downstream of altered splice site)
48074807CONFLICTN -> I (in Ref. 2; AAL33802 and 3).might get lost (downstream of altered splice site)
48264826CONFLICTS -> P (in Ref. 2; AAL33802 and 3).might get lost (downstream of altered splice site)
48314861COILEDPotential.might get lost (downstream of altered splice site)
49114944COILEDPotential.might get lost (downstream of altered splice site)
49445053REPEATSpectrin 1.might get lost (downstream of altered splice site)
50545167REPEATSpectrin 2.might get lost (downstream of altered splice site)
51665166CONFLICTE -> D (in Ref. 2; AAL33802 and 3).might get lost (downstream of altered splice site)
51705274REPEATSpectrin 3.might get lost (downstream of altered splice site)
53085346COILEDPotential.might get lost (downstream of altered splice site)
54285445COILEDPotential.might get lost (downstream of altered splice site)
55055529COILEDPotential.might get lost (downstream of altered splice site)
56465646CONFLICTT -> A (in Ref. 2; AAL33802 and 3).might get lost (downstream of altered splice site)
57275727CONFLICTK -> R (in Ref. 2; AAL33802 and 3).might get lost (downstream of altered splice site)
58525914REPEATSpectrin 4.might get lost (downstream of altered splice site)
59176019REPEATSpectrin 5.might get lost (downstream of altered splice site)
60226133REPEATSpectrin 6.might get lost (downstream of altered splice site)
61366242REPEATSpectrin 7.might get lost (downstream of altered splice site)
62456349REPEATSpectrin 8.might get lost (downstream of altered splice site)
63616361MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
65516658REPEATSpectrin 9.might get lost (downstream of altered splice site)
66976770COILEDPotential.might get lost (downstream of altered splice site)
68266885DOMAINKASH.might get lost (downstream of altered splice site)
68356855TRANSMEMHelical; Anchor for type IV membrane protein; (Potential).might get lost (downstream of altered splice site)
68566885TOPO_DOMPerinuclear space (Potential).might get lost (downstream of altered splice site)
68676870TURNmight get lost (downstream of altered splice site)
68716873STRANDmight get lost (downstream of altered splice site)
68756881STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 20658 / 20658
position (AA) of stopcodon in wt / mu AA sequence 6886 / 6886
position of stopcodon in wt / mu cDNA 20870 / 20870
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 213 / 213
chromosome 14
strand 1
last intron/exon boundary 20663
theoretical NMD boundary in CDS 20400
length of CDS 20658
coding sequence (CDS) position 8824
cDNA position
(for ins/del: last normal base / first normal base)		 9036
gDNA position
(for ins/del: last normal base / first normal base)		 199773
chromosomal position
(for ins/del: last normal base / first normal base)		 64519455
original gDNA sequence snippet GTAATGAAGTGGAACACAAGATAAAGTTTTGCAGACAATTC
altered gDNA sequence snippet GTAATGAAGTGGAACACAAGGTAAAGTTTTGCAGACAATTC
original cDNA sequence snippet GTAATGAAGTGGAACACAAGATAAAGTTTTGCAGACAATTC
altered cDNA sequence snippet GTAATGAAGTGGAACACAAGGTAAAGTTTTGCAGACAATTC
wildtype AA sequence MASSPELPTE DEQGSWGIDD LHISLQAEQE DTQKKAFTCW INSQLARHTS PSVISDLFTD
IKKGHVLLDL LEVLSGQQLP RDKGSNTFQC RINIEHALTF LRNRSIKLIN IHVTDIIDGN
PSIILGLIWT IILHFHIEKL AQTLSCNYNQ PSLDDVSVVD SSPASSPPAK KCSKVQARWQ
MSARKALLLW AQEQCATYES VNVTDFKSSW RNGMAFLAII HALRPDLIDM KSVKHRSNKD
NLREAFRIAE QELKIPRLLE PEDVDVVDPD EKSIMTYVAQ FLQYSKDAPG TGEEAQGKVK
DAMGWLTLQK EKLQKLLKDS ENDTYFKKYN SLLSFMESFN EEKKSFLDVL SIKRDLDELD
KDHLQLREAW DGLDHQINAW KIKLNYALPP PLHQTEAWLQ EVEELMDEDL SASQDHSQAV
TLIQEKMTLF KSLMDRFEHH SNILLTFENK DENHLPLVPP NKLEEMKRRI NNILEKKFIL
LLEFHYYKCL VLGLVDEVKS KLDIWNIKYG SRESVELLLE DWHKFIEEKE FLARLDTSFQ
KCGEIYKNLA GECQNINKQY MMVKSDVCMY RKNIYNVKST LQKVLACWAT YVENLRLLRA
CFEETKKEEI KEVPFETLAQ WNLEHATLNE AGNFLVEVSN DVVGSSISKE LRRLNKRWRK
LVSKTQLEMN LPLMIKKQDQ PTFDNSGNIL SKEEKATVEF STDMSVELPE NYNQNIKAGE
KHEKENEEFT GQLKVAKDVE KLIGQVEIWE AEAKSVLDQD DVDTSMEESL KHLIAKGSMF
DELMARSEDM LQMDIQNISS QESFQHVLTT GLQAKIQEAK EKVQINVVKL IAALKNLTDV
SPDLDIRLKM EESQKELESY MMRAQQLLGQ RESPGELISK HKEALIISNT KSLAKYLKAV
EELKNNVTED IKMSLEEKSR DVCAKWESLH HELSLYVQQL KIDIEKGKLS DNILKLEKQI
NKEKKLIRRG RTKGLIKEHE ACFSEEGCLY QLNHHMEVLR ELCEELPSQK SQQEVKRLLK
DYEQKIERLL KCASEIHMTL QPTAGGTSKN EGTITTSENR GGDPHSEAPF AKSDNQPSTE
KAMEPTMKFS LASVLRPLQE ESIMEKDYSA SINSLLERYD TYRDILEHHL QNNKFRITSD
FSSEEDRSSS CLQAKLTDLQ VIKNETDARW KEFEIISLKL ENHVNDIKKP FVIKERDTLK
ERERELQMTL NTRMESLETA LRLVLPVEKA SLLLCGSDLP LHKMAIQGFH LIDADRIYQH
LRNIQDSIAK QIEICNRLEE PGNFVLKELH PFDLHAMQNI ILKYKTQFEG MNHRVQRSED
TLKALEDFLA SLRTAKLSAE PVTDLSASDT QVAQENTLTV KNKEGEIHLM KDKAKHLDKC
LKMLDMSFKD AERGDDTSCE NLLDAFSIKL SETHGYGVQE EFTEENKLLE ACIFKNNELL
KNIQDVQSQI SKIGLKDPTV PAVKHRKKSL IRLDKVLDEY EEEKRHLQEM ANSLPHFKDG
REKTVNQQCQ NTVVLWENTK ALVTECLEQC GRVLELLKQY QNFKSILTTL IQKEESVISL
QASYMGKENL KKRIAEIEIV KEEFNEHLEV VDKINQVCKN LQFYLNKMKT FEEPPFEKEA
NIIVDRWLDI NEKTEDYYEN LGRALALWDK LFNLKNVIDE WTEKALQKME LHQLTEEDRE
RLKEELQVHE QKTSEFSRRV AEIQFLLQSS EIPLELQVME SSILNKMEHV QKCLTGESNC
HALSGSTAEL REDLDQAKTQ IGMTESLLKA LSPSDSLEIF TKLEEIQQQI LQQKHSMILL
ENQIGCLTPE LSELKKQYES VSDLFNTKKS VLQDHFSKLL NDQCKNFNDW FSNIKVNLKE
CFESSETKKS VEQKLQKLSD FLTLEGRNSK IKQVDSVLKH VKKHLPKAHV KELISWLVGQ
EFELEKMESI CQARAKELED SLQQLLRLQD DHRNLRKWLT NQEEKWKGME EPGEKTELFC
QALARKREQF ESVAQLNNSL KEYGFTEEEE IIMEATCLMD RYQTLLRQLS EIEEEDKLLP
TEDQSFNDLA HDVIHWIKEI KESLMVLNSS EGKMPLEERI QKIKEIILLK PEGDARIETI
MKQAESSEAP LVQKTLTDIS NQWDNTLHLA STYLSHQEKL LLEGEKYLQS KEDLRLMLIE
LKKKQEAGFA LQHGLQEKKA QLKIYKKFLK KAQDLTSLLK ELKSQGNYLL ECTKNPSFSE
EPWLEIKHLH ESLLQQLQDS VQNLDGHVRE HDSYQVCVTD LNTTLDNFSK EFVSFSDKPV
DQIAVEEKLQ KLQELENRLS LQDGTLKKIL ALAKSVKQNT SSVGQKIIKD DIKSLQCKQK
DLENRLASAK QEMECCLNSI LKSKRSTEKK GKFTLPGREK QATSDVQEST QESAAVEKLE
EDWEINKDSA VEMAMSKQLS LNAQESMKNT EDERKVNELQ NQPLELDTML RNEQLEEIEK
LYTQLEAKKA AIKPLEQTEC LNKTETGALV LHNIGYSAQH LDNLLQALIT LKKNKESQYC
VLRDFQEYLA AVESSMKALL TDKESLKVGP LDSVTYLDKI KKFIASIEKE KDSLGNLKIK
WENLSNHVTD MDKKLLESQI KQLEHGWEQV EQQIQKKYSQ QVVEYDEFTT LMNKVQDTEI
SLQQQQQHLQ LRLKSPEERA GNQSMIALTT DLQATKHGFS VLKGQAELQM KRIWGEKEKK
NLEDGINNLK KQWETLEPLH LEAENQIKKC DIRNKMKETI LWAKNLLGEL NPSIPLLPDD
ILSQIRKCKV THDGILARQQ SVESLAEEVK DKVPSLTTYE GSDLNNTLED LRNQYQMLVL
KSTQRSQQLE FKLEERSNFF AIIRKFQLMV QESETLIIPR VETAATEAEL KHHHVTLEAS
QKELQEIDSG ISTHLQELTN IYEELNVFER LFLEDQLKNL KIRTNRIQRF IQNTCNEVEH
KIKFCRQFHE KTSALQEEAD SIQRNELLLN QEVNKGVKEE IYNLKDRLTA IKCCILQVLK
LKKVFDYIGL NWDFSQLDQL QTQVFEKEKE LEEKIKQLDT FEEEHGKYQA LLSKMRAIDL
QIKKMTEVVL KAPDSSPESR RLNAQILSQR IEKAKCLCDE IIKKLNENKT FDDSFKEKEI
LQIKLNAEEN DKLYKVLQNM VLELSPKELD EKNCQDKLET SLHVLNQIKS QLQQPLLINL
EIKHIQNEKD NCEAFQEQVW AEMCSIKAVT AIEKQREENS SEASDVETKL REFEDLQMQL
NTSIDLRTNV LNDAYENLTR YKEAVTRAVE SITSLEAIII PYRVDVGNPE ESLEMPLRKQ
EELESTVAHI QDLTEKLGMI SSPEAKLQLQ YTLQELVSKN SAMKEAFKAQ ETEAERYLEN
YKCYRKMEED IYTNLSKMET VLGQSMSSLP LSYREALERL EQSKALVSNL ISTKEELMKL
RQILRLLRLR CTENDGICLL KIVSALWEKW LSLLEAAKEW EMWCEELKQE WKFVSEEIER
EAIILDNLQE ELPEISKTKE AATTEELSEL LDCLCQYGEN VEKQQLLLTL LLQRIRSIQN
VPESSGAVET VPAFQEITSM KERCNKLLQK VQKNKELVQT EIQERHSFTK EIIALKNFFQ
QTTTSFQNMA FQDHPEKSEQ FEELQSILKK GKLTFENIME KLRIKYSEMY TIVPAEIESQ
VEECRKALED IDEKISNEVL KSSPSYAMRR KIEEINNGLH NVEKMLQQKS KNIEKAQEIQ
KKMWDELDLW HSKLNELDSE VQDIVEQDPG QAQEWMDNLM IPFQQYQQVS QRAECRTSQL
NKATVKMEEY SDLLKSTEAW IENTSHLLAN PADYDSLRTL SHHASTVQMA LEDSEQKHNL
LHSIFMDLED LSIIFETDEL TQSIQELSNQ VTALQQKIME SLPQIQRMAD DVVAIESEVK
SMEKRVSKIK TILLSKEIFD FSPEEHLKHG EVILENIRPM KKTIAEIVSY QVELRLPQTG
MKPLPVFQRT NQLLQDIKLL ENVTQEQNEL LKVVIKQTNE WDEEIENLKQ ILNNYSAQFS
LEHMSPDQAD KLPQLQGEIE RMEKQILSLN QRKEDLLVDL KATVLNLHQH LKQEQEGVER
DRLPAVTSEE GGVAERDASE RKLNRRGSMS YLAAVEEEVE ESSVKSDNGD EKAEPSPQSW
SSLWKHDKDM EEDRASSSSG TIVQEAYGKI STSDNSMAQI LTPDSLNTEQ GPECSLRPNQ
TEEGTTPPIE ADTLDSSDAQ GGLEPRVEKT RPEPTEVLHA CKTQVAELEL WLQQANVAVE
PETLNADMQQ VLEQQLVGCQ AMLTEIEHKV AFLLETCKDQ GLGDNGATQH EAEALSLKLK
TVKCNLEKVQ MMLQEKHSED QHPTILKKSS EPEHQEALQP VNLSELESIV TERPQFSRQK
DFQQQQVLEL KPMEQKDFIK FIEFNAKKMW PQYCQHDNDT TQESSASNQA SSPENDVPDS
ILSPQGQNGD KWQYLHHELS SKIKLPLPQL VEPQVSTNMG ILPSVTMYNF RYPTTEELKT
YTTQLEDLRQ EASNLQTQEN MTEEAYINLD KKLFELFLTL SQCLSSVEEM LEMPRLYRED
GSGQQVHYET LALELKKLYL ALSDKKGDLL KAMTWPGENT NLLLECFDNL QVCLEHTQAA
AVCRSKSLKA GLDYNRSYQN EIKRLYHQLI KSKTSLQQSL NEISGQSVAE QLQKADAYTV
ELENAESRVA KLRDEGERLH LPYALLQEVY KLEDVLDSMW GMLRARYTEL SSPFVTESQQ
DALLQGMVEL VKIGKEKLAH GHLKQTKSKV ALQAQIENHK VFFQKLVADM LLIQAYSAKI
LPSLLQNRET FWAEQVTEVK ILEEKSRQCG MKLQSLLQKW EEFDENYASL EKDLEILIST
LPSVSLVEET EERLVERISF YQQIKRNIGG KHARLYQTLN EGKQLVASVS CPELEGQIAK
LEEQWLSLNK KIDHELHRLQ ALLKHLLSYN RDSDQLTKWL ESSQHTLNYW KEQSLNVSQD
LDTIRSNINN FFEFSKEVDE KSSLKTAVIS IGNQLLHLKE TDTATLRASL AQFEQKWTML
ITQLPDIQEK LHQLQMEKLP SRKAITEMIS WMNNVEHQTS DEDSVHSPSS ASQVKHLLQK
HKEFRMEMDY KQWIVDFVNQ SLLQLSTCDV ESKRYERTEF AEHLGEMNRQ WHRVHGMLNR
KIQHLEQLLE SITESENKIQ ILNNWLEAQE ERLKTLQKPE SVISVQKLLL DCQDIENQLA
IKSKALDELK QSYLTLESGA VPLLEDTASR IDELFQKRSS VLTQVNQLKT SMQSVLQEWK
IYDQLYDEVN MMTIRFWYCM EHSKPVVLSL ETLRCQVENL QSLQDEAESS EGSWEKLQEV
IGKLKGLCPS VAEIIEEKCQ NTHKRWTQVN QAIADQLQKA QSLLQLWKAY SNAHGEAAAR
LKQQEAKFQQ LANISMSGNN LAEILPPALQ DIKELQHDVQ KTKEAFLQNS SVLDRLPQPA
ESSTHMLLPG PLHSLQRAAY LEKMLLVKAN EFEFVLSQFK DFGVRLESLK GLIMHEEENL
DRLHQQEKEN PDSFLNHVLA LTAQSPDIEH LNEVSLKLPL SDVAVKTLQN MNRQWIRATA
TALERCSELQ GIGLNEKFLY CCEKWIQLLE KIEEALKVDV ANSLPELLEQ QKTYKMLEAE
VSINQTIADS YVTQSLQLLD TTEIENRPEF ITEFSKLTDR WQNAVQGVRQ RKGDVDGLVR
QWQDFTTSVE NLFRFLTDTS HLLSAVKGQE RFSLYQTRSL IHELKNKEIH FQRRRTTCAL
TLEAGEKLLL TTDLKTKESV GRRISQLQDS WKDMEPQLAE MIKQFQSTVE TWDQCEKKIK
ELKSRLQVLK AQSEDPLPEL HEDLHNEKEL IKELEQSLAS WTQNLKELQT MKADLTRHVL
VEDVMVLKEQ IEHLHRQWED LCLRVAIRKQ EIEDRLNTWV VFNEKNKELC AWLVQMENKV
LQTADISIEE MIEKLQKDCM EEINLFSENK LQLKQMGDQL IKASNKSRAA EIDDKLNKIN
DRWQHLFDVI GSRVKKLKET FAFIQQLDKN MSNLRTWLAR IESELSKPVV YDVCDDQEIQ
KRLAEQQDLQ RDIEQHSAGV ESVFNICDVL LHDSDACANE TECDSIQQTT RSLDRRWRNI
CAMSMERRMK IEETWRLWQK FLDDYSRFED WLKSAERTAA CPNSSEVLYT SAKEELKRFE
AFQRQIHERL TQLELINKQY RRLARENRTD TASRLKQMVH EGNQRWDNLQ RRVTAVLRRL
RHFTNQREEF EGTRESILVW LTEMDLQLTN VEHFSESDAD DKMRQLNGFQ QEITLNTNKI
DQLIVFGEQL IQKSEPLDAV LIEDELEELH RYCQEVFGRV SRFHRRLTSC TPGLEDEKEA
SENETDMEDP REIQTDSWRK RGESEEPSSP QSLCHLVAPG HERSGCETPV SVDSIPLEWD
HTGDVGGSSS HEEDEEGPYY SALSGKSISD GHSWHVPDSP SCPEHHYKQM EGDRNVPPVP
PASSTPYKPP YGKLLLPPGT DGGKEGPRVL NGNPQQEDGG LAGITEQQSG AFDRWEMIQA
QELHNKLKIK QNLQQLNSDI SAITTWLKKT EAELEMLKMA KPPSDIQEIE LRVKRLQEIL
KAFDTYKALV VSVNVSSKEF LQTESPESTE LQSRLRQLSL LWEAAQGAVD SWRGGLRQSL
MQCQDFHQLS QNLLLWLASA KNRRQKAHVT DPKADPRALL ECRRELMQLE KELVERQPQV
DMLQEISNSL LIKGHGEDCI EAEEKVHVIE KKLKQLREQV SQDLMALQGT QNPASPLPSF
DEVDSGDQPP ATSVPAPRAK QFRAVRTTEG EEETESRVPG STRPQRSFLS RVVRAALPLQ
LLLLLLLLLA CLLPSSEEDY SCTQANNFAR SFYPMLRYTN GPPPT*
mutated AA sequence MASSPELPTE DEQGSWGIDD LHISLQAEQE DTQKKAFTCW INSQLARHTS PSVISDLFTD
IKKGHVLLDL LEVLSGQQLP RDKGSNTFQC RINIEHALTF LRNRSIKLIN IHVTDIIDGN
PSIILGLIWT IILHFHIEKL AQTLSCNYNQ PSLDDVSVVD SSPASSPPAK KCSKVQARWQ
MSARKALLLW AQEQCATYES VNVTDFKSSW RNGMAFLAII HALRPDLIDM KSVKHRSNKD
NLREAFRIAE QELKIPRLLE PEDVDVVDPD EKSIMTYVAQ FLQYSKDAPG TGEEAQGKVK
DAMGWLTLQK EKLQKLLKDS ENDTYFKKYN SLLSFMESFN EEKKSFLDVL SIKRDLDELD
KDHLQLREAW DGLDHQINAW KIKLNYALPP PLHQTEAWLQ EVEELMDEDL SASQDHSQAV
TLIQEKMTLF KSLMDRFEHH SNILLTFENK DENHLPLVPP NKLEEMKRRI NNILEKKFIL
LLEFHYYKCL VLGLVDEVKS KLDIWNIKYG SRESVELLLE DWHKFIEEKE FLARLDTSFQ
KCGEIYKNLA GECQNINKQY MMVKSDVCMY RKNIYNVKST LQKVLACWAT YVENLRLLRA
CFEETKKEEI KEVPFETLAQ WNLEHATLNE AGNFLVEVSN DVVGSSISKE LRRLNKRWRK
LVSKTQLEMN LPLMIKKQDQ PTFDNSGNIL SKEEKATVEF STDMSVELPE NYNQNIKAGE
KHEKENEEFT GQLKVAKDVE KLIGQVEIWE AEAKSVLDQD DVDTSMEESL KHLIAKGSMF
DELMARSEDM LQMDIQNISS QESFQHVLTT GLQAKIQEAK EKVQINVVKL IAALKNLTDV
SPDLDIRLKM EESQKELESY MMRAQQLLGQ RESPGELISK HKEALIISNT KSLAKYLKAV
EELKNNVTED IKMSLEEKSR DVCAKWESLH HELSLYVQQL KIDIEKGKLS DNILKLEKQI
NKEKKLIRRG RTKGLIKEHE ACFSEEGCLY QLNHHMEVLR ELCEELPSQK SQQEVKRLLK
DYEQKIERLL KCASEIHMTL QPTAGGTSKN EGTITTSENR GGDPHSEAPF AKSDNQPSTE
KAMEPTMKFS LASVLRPLQE ESIMEKDYSA SINSLLERYD TYRDILEHHL QNNKFRITSD
FSSEEDRSSS CLQAKLTDLQ VIKNETDARW KEFEIISLKL ENHVNDIKKP FVIKERDTLK
ERERELQMTL NTRMESLETA LRLVLPVEKA SLLLCGSDLP LHKMAIQGFH LIDADRIYQH
LRNIQDSIAK QIEICNRLEE PGNFVLKELH PFDLHAMQNI ILKYKTQFEG MNHRVQRSED
TLKALEDFLA SLRTAKLSAE PVTDLSASDT QVAQENTLTV KNKEGEIHLM KDKAKHLDKC
LKMLDMSFKD AERGDDTSCE NLLDAFSIKL SETHGYGVQE EFTEENKLLE ACIFKNNELL
KNIQDVQSQI SKIGLKDPTV PAVKHRKKSL IRLDKVLDEY EEEKRHLQEM ANSLPHFKDG
REKTVNQQCQ NTVVLWENTK ALVTECLEQC GRVLELLKQY QNFKSILTTL IQKEESVISL
QASYMGKENL KKRIAEIEIV KEEFNEHLEV VDKINQVCKN LQFYLNKMKT FEEPPFEKEA
NIIVDRWLDI NEKTEDYYEN LGRALALWDK LFNLKNVIDE WTEKALQKME LHQLTEEDRE
RLKEELQVHE QKTSEFSRRV AEIQFLLQSS EIPLELQVME SSILNKMEHV QKCLTGESNC
HALSGSTAEL REDLDQAKTQ IGMTESLLKA LSPSDSLEIF TKLEEIQQQI LQQKHSMILL
ENQIGCLTPE LSELKKQYES VSDLFNTKKS VLQDHFSKLL NDQCKNFNDW FSNIKVNLKE
CFESSETKKS VEQKLQKLSD FLTLEGRNSK IKQVDSVLKH VKKHLPKAHV KELISWLVGQ
EFELEKMESI CQARAKELED SLQQLLRLQD DHRNLRKWLT NQEEKWKGME EPGEKTELFC
QALARKREQF ESVAQLNNSL KEYGFTEEEE IIMEATCLMD RYQTLLRQLS EIEEEDKLLP
TEDQSFNDLA HDVIHWIKEI KESLMVLNSS EGKMPLEERI QKIKEIILLK PEGDARIETI
MKQAESSEAP LVQKTLTDIS NQWDNTLHLA STYLSHQEKL LLEGEKYLQS KEDLRLMLIE
LKKKQEAGFA LQHGLQEKKA QLKIYKKFLK KAQDLTSLLK ELKSQGNYLL ECTKNPSFSE
EPWLEIKHLH ESLLQQLQDS VQNLDGHVRE HDSYQVCVTD LNTTLDNFSK EFVSFSDKPV
DQIAVEEKLQ KLQELENRLS LQDGTLKKIL ALAKSVKQNT SSVGQKIIKD DIKSLQCKQK
DLENRLASAK QEMECCLNSI LKSKRSTEKK GKFTLPGREK QATSDVQEST QESAAVEKLE
EDWEINKDSA VEMAMSKQLS LNAQESMKNT EDERKVNELQ NQPLELDTML RNEQLEEIEK
LYTQLEAKKA AIKPLEQTEC LNKTETGALV LHNIGYSAQH LDNLLQALIT LKKNKESQYC
VLRDFQEYLA AVESSMKALL TDKESLKVGP LDSVTYLDKI KKFIASIEKE KDSLGNLKIK
WENLSNHVTD MDKKLLESQI KQLEHGWEQV EQQIQKKYSQ QVVEYDEFTT LMNKVQDTEI
SLQQQQQHLQ LRLKSPEERA GNQSMIALTT DLQATKHGFS VLKGQAELQM KRIWGEKEKK
NLEDGINNLK KQWETLEPLH LEAENQIKKC DIRNKMKETI LWAKNLLGEL NPSIPLLPDD
ILSQIRKCKV THDGILARQQ SVESLAEEVK DKVPSLTTYE GSDLNNTLED LRNQYQMLVL
KSTQRSQQLE FKLEERSNFF AIIRKFQLMV QESETLIIPR VETAATEAEL KHHHVTLEAS
QKELQEIDSG ISTHLQELTN IYEELNVFER LFLEDQLKNL KIRTNRIQRF IQNTCNEVEH
KVKFCRQFHE KTSALQEEAD SIQRNELLLN QEVNKGVKEE IYNLKDRLTA IKCCILQVLK
LKKVFDYIGL NWDFSQLDQL QTQVFEKEKE LEEKIKQLDT FEEEHGKYQA LLSKMRAIDL
QIKKMTEVVL KAPDSSPESR RLNAQILSQR IEKAKCLCDE IIKKLNENKT FDDSFKEKEI
LQIKLNAEEN DKLYKVLQNM VLELSPKELD EKNCQDKLET SLHVLNQIKS QLQQPLLINL
EIKHIQNEKD NCEAFQEQVW AEMCSIKAVT AIEKQREENS SEASDVETKL REFEDLQMQL
NTSIDLRTNV LNDAYENLTR YKEAVTRAVE SITSLEAIII PYRVDVGNPE ESLEMPLRKQ
EELESTVAHI QDLTEKLGMI SSPEAKLQLQ YTLQELVSKN SAMKEAFKAQ ETEAERYLEN
YKCYRKMEED IYTNLSKMET VLGQSMSSLP LSYREALERL EQSKALVSNL ISTKEELMKL
RQILRLLRLR CTENDGICLL KIVSALWEKW LSLLEAAKEW EMWCEELKQE WKFVSEEIER
EAIILDNLQE ELPEISKTKE AATTEELSEL LDCLCQYGEN VEKQQLLLTL LLQRIRSIQN
VPESSGAVET VPAFQEITSM KERCNKLLQK VQKNKELVQT EIQERHSFTK EIIALKNFFQ
QTTTSFQNMA FQDHPEKSEQ FEELQSILKK GKLTFENIME KLRIKYSEMY TIVPAEIESQ
VEECRKALED IDEKISNEVL KSSPSYAMRR KIEEINNGLH NVEKMLQQKS KNIEKAQEIQ
KKMWDELDLW HSKLNELDSE VQDIVEQDPG QAQEWMDNLM IPFQQYQQVS QRAECRTSQL
NKATVKMEEY SDLLKSTEAW IENTSHLLAN PADYDSLRTL SHHASTVQMA LEDSEQKHNL
LHSIFMDLED LSIIFETDEL TQSIQELSNQ VTALQQKIME SLPQIQRMAD DVVAIESEVK
SMEKRVSKIK TILLSKEIFD FSPEEHLKHG EVILENIRPM KKTIAEIVSY QVELRLPQTG
MKPLPVFQRT NQLLQDIKLL ENVTQEQNEL LKVVIKQTNE WDEEIENLKQ ILNNYSAQFS
LEHMSPDQAD KLPQLQGEIE RMEKQILSLN QRKEDLLVDL KATVLNLHQH LKQEQEGVER
DRLPAVTSEE GGVAERDASE RKLNRRGSMS YLAAVEEEVE ESSVKSDNGD EKAEPSPQSW
SSLWKHDKDM EEDRASSSSG TIVQEAYGKI STSDNSMAQI LTPDSLNTEQ GPECSLRPNQ
TEEGTTPPIE ADTLDSSDAQ GGLEPRVEKT RPEPTEVLHA CKTQVAELEL WLQQANVAVE
PETLNADMQQ VLEQQLVGCQ AMLTEIEHKV AFLLETCKDQ GLGDNGATQH EAEALSLKLK
TVKCNLEKVQ MMLQEKHSED QHPTILKKSS EPEHQEALQP VNLSELESIV TERPQFSRQK
DFQQQQVLEL KPMEQKDFIK FIEFNAKKMW PQYCQHDNDT TQESSASNQA SSPENDVPDS
ILSPQGQNGD KWQYLHHELS SKIKLPLPQL VEPQVSTNMG ILPSVTMYNF RYPTTEELKT
YTTQLEDLRQ EASNLQTQEN MTEEAYINLD KKLFELFLTL SQCLSSVEEM LEMPRLYRED
GSGQQVHYET LALELKKLYL ALSDKKGDLL KAMTWPGENT NLLLECFDNL QVCLEHTQAA
AVCRSKSLKA GLDYNRSYQN EIKRLYHQLI KSKTSLQQSL NEISGQSVAE QLQKADAYTV
ELENAESRVA KLRDEGERLH LPYALLQEVY KLEDVLDSMW GMLRARYTEL SSPFVTESQQ
DALLQGMVEL VKIGKEKLAH GHLKQTKSKV ALQAQIENHK VFFQKLVADM LLIQAYSAKI
LPSLLQNRET FWAEQVTEVK ILEEKSRQCG MKLQSLLQKW EEFDENYASL EKDLEILIST
LPSVSLVEET EERLVERISF YQQIKRNIGG KHARLYQTLN EGKQLVASVS CPELEGQIAK
LEEQWLSLNK KIDHELHRLQ ALLKHLLSYN RDSDQLTKWL ESSQHTLNYW KEQSLNVSQD
LDTIRSNINN FFEFSKEVDE KSSLKTAVIS IGNQLLHLKE TDTATLRASL AQFEQKWTML
ITQLPDIQEK LHQLQMEKLP SRKAITEMIS WMNNVEHQTS DEDSVHSPSS ASQVKHLLQK
HKEFRMEMDY KQWIVDFVNQ SLLQLSTCDV ESKRYERTEF AEHLGEMNRQ WHRVHGMLNR
KIQHLEQLLE SITESENKIQ ILNNWLEAQE ERLKTLQKPE SVISVQKLLL DCQDIENQLA
IKSKALDELK QSYLTLESGA VPLLEDTASR IDELFQKRSS VLTQVNQLKT SMQSVLQEWK
IYDQLYDEVN MMTIRFWYCM EHSKPVVLSL ETLRCQVENL QSLQDEAESS EGSWEKLQEV
IGKLKGLCPS VAEIIEEKCQ NTHKRWTQVN QAIADQLQKA QSLLQLWKAY SNAHGEAAAR
LKQQEAKFQQ LANISMSGNN LAEILPPALQ DIKELQHDVQ KTKEAFLQNS SVLDRLPQPA
ESSTHMLLPG PLHSLQRAAY LEKMLLVKAN EFEFVLSQFK DFGVRLESLK GLIMHEEENL
DRLHQQEKEN PDSFLNHVLA LTAQSPDIEH LNEVSLKLPL SDVAVKTLQN MNRQWIRATA
TALERCSELQ GIGLNEKFLY CCEKWIQLLE KIEEALKVDV ANSLPELLEQ QKTYKMLEAE
VSINQTIADS YVTQSLQLLD TTEIENRPEF ITEFSKLTDR WQNAVQGVRQ RKGDVDGLVR
QWQDFTTSVE NLFRFLTDTS HLLSAVKGQE RFSLYQTRSL IHELKNKEIH FQRRRTTCAL
TLEAGEKLLL TTDLKTKESV GRRISQLQDS WKDMEPQLAE MIKQFQSTVE TWDQCEKKIK
ELKSRLQVLK AQSEDPLPEL HEDLHNEKEL IKELEQSLAS WTQNLKELQT MKADLTRHVL
VEDVMVLKEQ IEHLHRQWED LCLRVAIRKQ EIEDRLNTWV VFNEKNKELC AWLVQMENKV
LQTADISIEE MIEKLQKDCM EEINLFSENK LQLKQMGDQL IKASNKSRAA EIDDKLNKIN
DRWQHLFDVI GSRVKKLKET FAFIQQLDKN MSNLRTWLAR IESELSKPVV YDVCDDQEIQ
KRLAEQQDLQ RDIEQHSAGV ESVFNICDVL LHDSDACANE TECDSIQQTT RSLDRRWRNI
CAMSMERRMK IEETWRLWQK FLDDYSRFED WLKSAERTAA CPNSSEVLYT SAKEELKRFE
AFQRQIHERL TQLELINKQY RRLARENRTD TASRLKQMVH EGNQRWDNLQ RRVTAVLRRL
RHFTNQREEF EGTRESILVW LTEMDLQLTN VEHFSESDAD DKMRQLNGFQ QEITLNTNKI
DQLIVFGEQL IQKSEPLDAV LIEDELEELH RYCQEVFGRV SRFHRRLTSC TPGLEDEKEA
SENETDMEDP REIQTDSWRK RGESEEPSSP QSLCHLVAPG HERSGCETPV SVDSIPLEWD
HTGDVGGSSS HEEDEEGPYY SALSGKSISD GHSWHVPDSP SCPEHHYKQM EGDRNVPPVP
PASSTPYKPP YGKLLLPPGT DGGKEGPRVL NGNPQQEDGG LAGITEQQSG AFDRWEMIQA
QELHNKLKIK QNLQQLNSDI SAITTWLKKT EAELEMLKMA KPPSDIQEIE LRVKRLQEIL
KAFDTYKALV VSVNVSSKEF LQTESPESTE LQSRLRQLSL LWEAAQGAVD SWRGGLRQSL
MQCQDFHQLS QNLLLWLASA KNRRQKAHVT DPKADPRALL ECRRELMQLE KELVERQPQV
DMLQEISNSL LIKGHGEDCI EAEEKVHVIE KKLKQLREQV SQDLMALQGT QNPASPLPSF
DEVDSGDQPP ATSVPAPRAK QFRAVRTTEG EEETESRVPG STRPQRSFLS RVVRAALPLQ
LLLLLLLLLA CLLPSSEEDY SCTQANNFAR SFYPMLRYTN GPPPT*
speed 0.91 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