Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 4 transcript(s)...
Querying Taster for transcript #1: ENST00000344113
Querying Taster for transcript #2: ENST00000554584
Querying Taster for transcript #3: ENST00000358025
Querying Taster for transcript #4: ENST00000357395
MT speed 0 s - this script 3.713743 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
SYNE2polymorphism_automatic1.25207955115059e-10simple_aaeaffectedI2975Vsingle base exchangers3829767show file
SYNE2polymorphism_automatic1.25207955115059e-10simple_aaeaffectedI2942Vsingle base exchangers3829767show file
SYNE2polymorphism_automatic1.25207955115059e-10simple_aaeaffectedI2942Vsingle base exchangers3829767show file
SYNE2polymorphism_automatic0.000637375099269977without_aaeaffectedsingle base exchangers3829767show file

Taster files

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 ENST00000554584
Genbank transcript ID N/A
UniProt peptide Q8WXH0
alteration type single base exchange
alteration region CDS
DNA changes c.8923A>G
cDNA.8974A>G
g.199773A>G
AA changes I2975V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2975
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      2975IQNTCNEVEHKIKFCRQFHEKTSA
mutated  all conserved    2975IQNTCNEVEHKVKFCRQFHEKTS
Ptroglodytes  all identical  ENSPTRG00000006429  2942IQNTCNEVEHKIKFCRQFHEKTS
Mmulatta  no alignment  ENSMMUG00000001008  n/a
Fcatus  no alignment  ENSFCAG00000013352  n/a
Mmusculus  all conserved  ENSMUSG00000063450  2932LQNNGSELKQKMESYREFHDKAA
Ggallus  all identical  ENSGALG00000011811  2940KIAAYREFAEGIK
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 20457 / 20457
position (AA) of stopcodon in wt / mu AA sequence 6819 / 6819
position of stopcodon in wt / mu cDNA 20508 / 20508
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 52 / 52
chromosome 14
strand 1
last intron/exon boundary 20263
theoretical NMD boundary in CDS 20161
length of CDS 20457
coding sequence (CDS) position 8923
cDNA position
(for ins/del: last normal base / first normal base)		 8974
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
EDWEINKNFV ENVMAVSKNC HHSMYIFESI VKNFISDEMQ DSAVEMAMSK QLSLNAQESM
KNTEDERKVN ELQNQPLELD TMLRNEQLEE IEKLYTQLEA KKAAIKPLEQ TECLNKTETG
ALVLHNIGYS AQHLDNLLQA LITLKKNKES QYCVLRDFQE YLAAVESSMK ALLTDKESLK
VGPLDSVTYL DKIKKFIASI EKEKDSLGNL KIKWENLSNH VTDMDKKLLE SQIKQLEHGW
EQVEQQIQKK YSQQVVEYDE FTTLMNKVQD TEISLQQQQQ HLQLRLKSPE ERAGNQSMIA
LTTDLQATKH GFSVLKGQAE LQMKRIWGEK EKKNLEDGIN NLKKQWETLE PLHLEAENQI
KKCDIRNKMK ETILWAKNLL GELNPSIPLL PDDILSQIRK CKVTHDGILA RQQSVESLAE
EVKDKVPSLT TYEGSDLNNT LEDLRNQYQM LVLKSTQRSQ QLEFKLEERS NFFAIIRKFQ
LMVQESETLI IPRVETAATE AELKHHHVTL EASQKELQEI DSGISTHLQE LTNIYEELNV
FERLFLEDQL KNLKIRTNRI QRFIQNTCNE VEHKIKFCRQ FHEKTSALQE EADSIQRNEL
LLNQEVNKGV KEEIYNLKDR LTAIKCCILQ VLKLKKVFDY IGLNWDFSQL DQLQTQVFEK
EKELEEKIKQ LDTFEEEHGK YQALLSKMRA IDLQIKKMTE VVLKAPDSSP ESRRLNAQIL
SQRIEKAKCL CDEIIKKLNE NKTFDDSFKE KEILQIKLNA EENDKLYKVL QNMVLELSPK
ELDEKNCQDK LETSLHVLNQ IKSQLQQPLL INLEIKHIQN EKDNCEAFQE QVWAEMCSIK
AVTAIEKQRE ENSSEASDVE TKLREFEDLQ MQLNTSIDLR TNVLNDAYEN LTRYKEAVTR
AVESITSLEA IIIPYRVDVG NPEESLEMPL RKQEELESTV AHIQDLTEKL GMISSPEAKL
QLQYTLQELV SKNSAMKEAF KAQETEAERY LENYKCYRKM EEDIYTNLSK METVLGQSMS
SLPLSYREAL ERLEQSKALV SNLISTKEEL MKLRQILRLL RLRCTENDGI CLLKIVSALW
EKWLSLLEAA KEWEMWCEEL KQEWKFVSEE IEREAIILDN LQEELPEISK TKEAATTEEL
SELLDCLCQY GENVEKQQLL LTLLLQRIRS IQNVPESSGA VETVPAFQEI TSMKERCNKL
LQKVQKNKEL VQTEIQERHS FTKEIIALKN FFQQTTTSFQ NMAFQDHPEK SEQFEELQSI
LKKGKLTFEN IMEKLRIKYS EMYTIVPAEI ESQVEECRKA LEDIDEKISN EVLKSSPSYA
MRRKIEEINN GLHNVEKMLQ QKSKNIEKAQ EIQKKMWDEL DLWHSKLNEL DSEVQDIVEQ
DPGQAQEWMD NLMIPFQQYQ QVSQRAECRT SQLNKATVKM EEYSDLLKST EAWIENTSHL
LANPADYDSL RTLSHHASTV QMALEDSEQK HNLLHSIFMD LEDLSIIFET DELTQSIQEL
SNQVTALQQK IMESLPQIQR MADDVVAIES EVKSMEKRVS KIKTILLSKE IFDFSPEEHL
KHGEVILENI RPMKKTIAEI VSYQVELRLP QTGMKPLPVF QRTNQLLQDI KLLENVTQEQ
NELLKVVIKQ TNEWDEEIEN LKQILNNYSA QFSLEHMSPD QADKLPQLQG EIERMEKQIL
SLNQRKEDLL VDLKATVLNL HQHLKQEQEG VERDRLPAVT SEEGGVAERD ASERKLNRRG
SMSYLAAVEE EVEESSVKSD HDKDMEEDRA SSSSGTIVQE AYGKISTSDN SMAQILTPDS
LNTEQGPECS LRPNQTEEGT TPPIEADTLD SSDAQGGLEP RVEKTRPEPT EVLHACKTQV
AELELWLQQA NVAVEPETLN ADMQQVLEQQ LVGCQAMLTE IEHKVAFLLE TCKDQGLGDN
GATQHEAEAL SLKLKTVKCN LEKVQMMLQE KHSEDQHPTI LKKSSEPEHQ EALQPVNLSE
LESIVTERPQ FSRQKDFQQQ QVLELKPMEQ KDFIKFIEFN AKKMWPQYCQ HDNDTTQESS
ARYPTTEELK TYTTQLEDLR QEASNLQTQE NMTEEAYINL DKKLFELFLT LSQCLSSVEE
MLEMPRLYRE DGSGQQVHYE TLALELKKLY LALSDKKGDL LKAMTWPGEN TNLLLECFDN
LQVCLEHTQA AAVCRSKSLK AGLDYNRSYQ KADAYTVELE NAESRVAKLR DEGERLHLPY
ALLQEVYKLE DVLDSMWGML RARYTELSSP FVTESQQDAL LQGMVELVKI GKEKLAHGHL
KQTKSKVALQ AQIENHKVFF QKLVADMLLI QAYSAKILPS LLQNRETFWA EQVTEVKILE
EKSRQCGMKL QSLLQKWEEF DENYASLEKD LEILISTLPS VSLVEETEER LVERISFYQQ
IKRNIGGKHA RLYQTLNEGK QLVASVSCPE LEGQIAKLEE QWLSLNKKID HELHRLQALL
KHLLSYNRDS DQLTKWLESS QHTLNYWKEQ SLNVSQDLDT IRSNINNFFE FSKEVDEKSS
LKTAVISIGN QLLHLKETDT ATLRASLAQF EQKWTMLITQ LPDIQEKLHQ LQMEKLPSRK
AITEMISWMN NVEHQTSDED SVHSPSSASQ VKHLLQKHKE FRMEMDYKQW IVDFVNQSLL
QLSTCDVESK RYERTEFAEH LGEMNRQWHR VHGMLNRKIQ HLEQLLESIT ESENKIQILN
NWLEAQEERL KTLQKPESVI SVQKLLLDCQ DIENQLAIKS KALDELKQSY LTLESGAVPL
LEDTASRIDE LFQKRSSVLT QVNQLKTSMQ SVLQEWKIYD QLYDEVNMMT IRFWYCMEHS
KPVVLSLETL RCQVENLQSL QDEAESSEGS WEKLQEVIGK LKGLCPSVAE IIEEKCQNTH
KRWTQVNQAI ADQLQKAQSL LQLWKAYSNA HGEAAARLKQ QEAKFQQLAN ISMSGNNLAE
ILPPALQDIK ELQHDVQKTK EAFLQNSSVL DRLPQPAESS THMLLPGPLH SLQRAAYLEK
MLLVKANEFE NHVLALTAQS PDIEHLNEVS LKLPLSDVAV KTLQNMNRQW IRATATALER
CSELQGIGLN EKFLYCCEKW IQLLEKIEEA LKVDVANSLP ELLEQQKTYK MLEAEVSINQ
TIADSYVTQS LQLLDTTEIE NRPEFITEFS KLTDRWQNAV QGVRQRKGDV DGLNAHVARC
GGASLKKQDL RYSLHTACGA ALLCRSSHGA NKEIHFQRRR TTCALTLEAG EKLLLTTDLK
TKESVGRRIS QLQDSWKDME PQLAEMIKQF QSTVETWDQC EKKIKELKSR LQVLKAQSED
PLPELHEDLH NEKELIKVAI RKQEIEDRLN TWVVFNEKNK ELCAWLVQME NKVLQTADIS
IEEMIEKLQK RTVGREEVPE RWECETIVSG HGTEESCFLS IRKFHQGRGL HILTCQLIPQ
DCMEEINLFS ENKLQLKQMG DQLIKASNKS RAAEIDDKLN KINDRWQHLF DVIGSSMADQ
TNSRWMFFQW PRGIQRTVTW PWDHLCSCAS TGHTGPFHSS VLRCFEQHIE FGIYRRTYKV
NKELGGDKNG QRCPIIYPHG LVQCIRLGEP LILKRVKKLK ETFAFIQQLD KNMSNLRTWL
ARIESELSKP VVYDVCDDQE IQKRLAEQQD LQRDIEQHSA GVESVFNICD VLLHDSDACA
NETECDSIQQ TTRSLDRRWR NICAMSMERR MKIEETWRLW QKFLDDYSRF EDWLKSAERT
AACPNSSEVL YTSAKEELKR FERQIHERLT QLELINKQYR RLARENRTDT ASRLKQMVHE
GNQRWDNLQR RVTAVLRRLR HFTNQREEFE GTRESILVWL TEMDLQLTNV EHFSESDADD
KMRQLNGFQQ EITLNTNKID QLIVFGEQLI QKSEPLDAVL IEDELEELHR YCQEGLEDEK
EASENETDME DPREIQTDSW RKRGESEEPS SPQSLCHLVA PGHERSGCET PVSVDSIPLE
WDHTGDVGGS SSHEEDEEGP YYSALSGKSI SDGHSWHVPD SPSCPEHHYK QMEGDRNVPP
VPPASSTPYK PPYVSLNFTG STAYVCAFDR WEMIQAQELH NKLKIKQNLQ QLNSDISAIT
TWLKKTEAEL EMLKMAKPPS DIQEIELRVK RLQEILKAFD TYKALVVSVN VSSKEFLQTE
SPESTELQSR LRQLSLLWEA AQGAVDSWRG GLRQSLMQCQ DFHQLSQNLL LWLASAKNRR
QKAHVTDPKA DPRALLECRR ELMQLEKELV ERQPQVDMLQ EISNSLLIKG HGEDCIEAEE
KVHVIEKKLK QLREQVSQDL MALQGTQNPA SPLPSFDEVD SGDQPPATSV PAPRAKFLYP
AVQSSENYRR RGGDREQGPR QHTATALLPL KGGPGSPTPA AAPPAAAAPG LPAALLRRRL
QLHSGQQLCP VLLPHAEVHQ WATPHIEGIA GHSATPPA*
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
EDWEINKNFV ENVMAVSKNC HHSMYIFESI VKNFISDEMQ DSAVEMAMSK QLSLNAQESM
KNTEDERKVN ELQNQPLELD TMLRNEQLEE IEKLYTQLEA KKAAIKPLEQ TECLNKTETG
ALVLHNIGYS AQHLDNLLQA LITLKKNKES QYCVLRDFQE YLAAVESSMK ALLTDKESLK
VGPLDSVTYL DKIKKFIASI EKEKDSLGNL KIKWENLSNH VTDMDKKLLE SQIKQLEHGW
EQVEQQIQKK YSQQVVEYDE FTTLMNKVQD TEISLQQQQQ HLQLRLKSPE ERAGNQSMIA
LTTDLQATKH GFSVLKGQAE LQMKRIWGEK EKKNLEDGIN NLKKQWETLE PLHLEAENQI
KKCDIRNKMK ETILWAKNLL GELNPSIPLL PDDILSQIRK CKVTHDGILA RQQSVESLAE
EVKDKVPSLT TYEGSDLNNT LEDLRNQYQM LVLKSTQRSQ QLEFKLEERS NFFAIIRKFQ
LMVQESETLI IPRVETAATE AELKHHHVTL EASQKELQEI DSGISTHLQE LTNIYEELNV
FERLFLEDQL KNLKIRTNRI QRFIQNTCNE VEHKVKFCRQ FHEKTSALQE EADSIQRNEL
LLNQEVNKGV KEEIYNLKDR LTAIKCCILQ VLKLKKVFDY IGLNWDFSQL DQLQTQVFEK
EKELEEKIKQ LDTFEEEHGK YQALLSKMRA IDLQIKKMTE VVLKAPDSSP ESRRLNAQIL
SQRIEKAKCL CDEIIKKLNE NKTFDDSFKE KEILQIKLNA EENDKLYKVL QNMVLELSPK
ELDEKNCQDK LETSLHVLNQ IKSQLQQPLL INLEIKHIQN EKDNCEAFQE QVWAEMCSIK
AVTAIEKQRE ENSSEASDVE TKLREFEDLQ MQLNTSIDLR TNVLNDAYEN LTRYKEAVTR
AVESITSLEA IIIPYRVDVG NPEESLEMPL RKQEELESTV AHIQDLTEKL GMISSPEAKL
QLQYTLQELV SKNSAMKEAF KAQETEAERY LENYKCYRKM EEDIYTNLSK METVLGQSMS
SLPLSYREAL ERLEQSKALV SNLISTKEEL MKLRQILRLL RLRCTENDGI CLLKIVSALW
EKWLSLLEAA KEWEMWCEEL KQEWKFVSEE IEREAIILDN LQEELPEISK TKEAATTEEL
SELLDCLCQY GENVEKQQLL LTLLLQRIRS IQNVPESSGA VETVPAFQEI TSMKERCNKL
LQKVQKNKEL VQTEIQERHS FTKEIIALKN FFQQTTTSFQ NMAFQDHPEK SEQFEELQSI
LKKGKLTFEN IMEKLRIKYS EMYTIVPAEI ESQVEECRKA LEDIDEKISN EVLKSSPSYA
MRRKIEEINN GLHNVEKMLQ QKSKNIEKAQ EIQKKMWDEL DLWHSKLNEL DSEVQDIVEQ
DPGQAQEWMD NLMIPFQQYQ QVSQRAECRT SQLNKATVKM EEYSDLLKST EAWIENTSHL
LANPADYDSL RTLSHHASTV QMALEDSEQK HNLLHSIFMD LEDLSIIFET DELTQSIQEL
SNQVTALQQK IMESLPQIQR MADDVVAIES EVKSMEKRVS KIKTILLSKE IFDFSPEEHL
KHGEVILENI RPMKKTIAEI VSYQVELRLP QTGMKPLPVF QRTNQLLQDI KLLENVTQEQ
NELLKVVIKQ TNEWDEEIEN LKQILNNYSA QFSLEHMSPD QADKLPQLQG EIERMEKQIL
SLNQRKEDLL VDLKATVLNL HQHLKQEQEG VERDRLPAVT SEEGGVAERD ASERKLNRRG
SMSYLAAVEE EVEESSVKSD HDKDMEEDRA SSSSGTIVQE AYGKISTSDN SMAQILTPDS
LNTEQGPECS LRPNQTEEGT TPPIEADTLD SSDAQGGLEP RVEKTRPEPT EVLHACKTQV
AELELWLQQA NVAVEPETLN ADMQQVLEQQ LVGCQAMLTE IEHKVAFLLE TCKDQGLGDN
GATQHEAEAL SLKLKTVKCN LEKVQMMLQE KHSEDQHPTI LKKSSEPEHQ EALQPVNLSE
LESIVTERPQ FSRQKDFQQQ QVLELKPMEQ KDFIKFIEFN AKKMWPQYCQ HDNDTTQESS
ARYPTTEELK TYTTQLEDLR QEASNLQTQE NMTEEAYINL DKKLFELFLT LSQCLSSVEE
MLEMPRLYRE DGSGQQVHYE TLALELKKLY LALSDKKGDL LKAMTWPGEN TNLLLECFDN
LQVCLEHTQA AAVCRSKSLK AGLDYNRSYQ KADAYTVELE NAESRVAKLR DEGERLHLPY
ALLQEVYKLE DVLDSMWGML RARYTELSSP FVTESQQDAL LQGMVELVKI GKEKLAHGHL
KQTKSKVALQ AQIENHKVFF QKLVADMLLI QAYSAKILPS LLQNRETFWA EQVTEVKILE
EKSRQCGMKL QSLLQKWEEF DENYASLEKD LEILISTLPS VSLVEETEER LVERISFYQQ
IKRNIGGKHA RLYQTLNEGK QLVASVSCPE LEGQIAKLEE QWLSLNKKID HELHRLQALL
KHLLSYNRDS DQLTKWLESS QHTLNYWKEQ SLNVSQDLDT IRSNINNFFE FSKEVDEKSS
LKTAVISIGN QLLHLKETDT ATLRASLAQF EQKWTMLITQ LPDIQEKLHQ LQMEKLPSRK
AITEMISWMN NVEHQTSDED SVHSPSSASQ VKHLLQKHKE FRMEMDYKQW IVDFVNQSLL
QLSTCDVESK RYERTEFAEH LGEMNRQWHR VHGMLNRKIQ HLEQLLESIT ESENKIQILN
NWLEAQEERL KTLQKPESVI SVQKLLLDCQ DIENQLAIKS KALDELKQSY LTLESGAVPL
LEDTASRIDE LFQKRSSVLT QVNQLKTSMQ SVLQEWKIYD QLYDEVNMMT IRFWYCMEHS
KPVVLSLETL RCQVENLQSL QDEAESSEGS WEKLQEVIGK LKGLCPSVAE IIEEKCQNTH
KRWTQVNQAI ADQLQKAQSL LQLWKAYSNA HGEAAARLKQ QEAKFQQLAN ISMSGNNLAE
ILPPALQDIK ELQHDVQKTK EAFLQNSSVL DRLPQPAESS THMLLPGPLH SLQRAAYLEK
MLLVKANEFE NHVLALTAQS PDIEHLNEVS LKLPLSDVAV KTLQNMNRQW IRATATALER
CSELQGIGLN EKFLYCCEKW IQLLEKIEEA LKVDVANSLP ELLEQQKTYK MLEAEVSINQ
TIADSYVTQS LQLLDTTEIE NRPEFITEFS KLTDRWQNAV QGVRQRKGDV DGLNAHVARC
GGASLKKQDL RYSLHTACGA ALLCRSSHGA NKEIHFQRRR TTCALTLEAG EKLLLTTDLK
TKESVGRRIS QLQDSWKDME PQLAEMIKQF QSTVETWDQC EKKIKELKSR LQVLKAQSED
PLPELHEDLH NEKELIKVAI RKQEIEDRLN TWVVFNEKNK ELCAWLVQME NKVLQTADIS
IEEMIEKLQK RTVGREEVPE RWECETIVSG HGTEESCFLS IRKFHQGRGL HILTCQLIPQ
DCMEEINLFS ENKLQLKQMG DQLIKASNKS RAAEIDDKLN KINDRWQHLF DVIGSSMADQ
TNSRWMFFQW PRGIQRTVTW PWDHLCSCAS TGHTGPFHSS VLRCFEQHIE FGIYRRTYKV
NKELGGDKNG QRCPIIYPHG LVQCIRLGEP LILKRVKKLK ETFAFIQQLD KNMSNLRTWL
ARIESELSKP VVYDVCDDQE IQKRLAEQQD LQRDIEQHSA GVESVFNICD VLLHDSDACA
NETECDSIQQ TTRSLDRRWR NICAMSMERR MKIEETWRLW QKFLDDYSRF EDWLKSAERT
AACPNSSEVL YTSAKEELKR FERQIHERLT QLELINKQYR RLARENRTDT ASRLKQMVHE
GNQRWDNLQR RVTAVLRRLR HFTNQREEFE GTRESILVWL TEMDLQLTNV EHFSESDADD
KMRQLNGFQQ EITLNTNKID QLIVFGEQLI QKSEPLDAVL IEDELEELHR YCQEGLEDEK
EASENETDME DPREIQTDSW RKRGESEEPS SPQSLCHLVA PGHERSGCET PVSVDSIPLE
WDHTGDVGGS SSHEEDEEGP YYSALSGKSI SDGHSWHVPD SPSCPEHHYK QMEGDRNVPP
VPPASSTPYK PPYVSLNFTG STAYVCAFDR WEMIQAQELH NKLKIKQNLQ QLNSDISAIT
TWLKKTEAEL EMLKMAKPPS DIQEIELRVK RLQEILKAFD TYKALVVSVN VSSKEFLQTE
SPESTELQSR LRQLSLLWEA AQGAVDSWRG GLRQSLMQCQ DFHQLSQNLL LWLASAKNRR
QKAHVTDPKA DPRALLECRR ELMQLEKELV ERQPQVDMLQ EISNSLLIKG HGEDCIEAEE
KVHVIEKKLK QLREQVSQDL MALQGTQNPA SPLPSFDEVD SGDQPPATSV PAPRAKFLYP
AVQSSENYRR RGGDREQGPR QHTATALLPL KGGPGSPTPA AAPPAAAAPG LPAALLRRRL
QLHSGQQLCP VLLPHAEVHQ WATPHIEGIA GHSATPPA*
speed 0.61 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
back to results table
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 0.56 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
back to results table
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 ENST00000358025
Genbank transcript ID NM_182914
UniProt peptide Q8WXH0
alteration type single base exchange
alteration region CDS
DNA changes c.8824A>G
cDNA.9054A>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 20724 / 20724
position (AA) of stopcodon in wt / mu AA sequence 6908 / 6908
position of stopcodon in wt / mu cDNA 20954 / 20954
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 231 / 231
chromosome 14
strand 1
last intron/exon boundary 20747
theoretical NMD boundary in CDS 20466
length of CDS 20724
coding sequence (CDS) position 8824
cDNA position
(for ins/del: last normal base / first normal base)		 9054
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 SALSDVEIPE NPEAYLKMTT KTLKASSGKS ISDGHSWHVP
DSPSCPEHHY KQMEGDRNVP PVPPASSTPY KPPYGKLLLP PGTDGGKEGP RVLNGNPQQE
DGGLAGITEQ QSGAFDRWEM IQAQELHNKL KIKQNLQQLN SDISAITTWL KKTEAELEML
KMAKPPSDIQ EIELRVKRLQ EILKAFDTYK ALVVSVNVSS KEFLQTESPE STELQSRLRQ
LSLLWEAAQG AVDSWRGGLR QSLMQCQDFH QLSQNLLLWL ASAKNRRQKA HVTDPKADPR
ALLECRRELM QLEKELVERQ PQVDMLQEIS NSLLIKGHGE DCIEAEEKVH VIEKKLKQLR
EQVSQDLMAL QGTQNPASPL PSFDEVDSGD QPPATSVPAP RAKFRAVRTT EGEEETESRV
PGSTRPQRSF LSRVVRAALP LQLLLLLLLL LACLLPSSEE DYSCTQANNF ARSFYPMLRY
TNGPPPT*
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 SALSDVEIPE NPEAYLKMTT KTLKASSGKS ISDGHSWHVP
DSPSCPEHHY KQMEGDRNVP PVPPASSTPY KPPYGKLLLP PGTDGGKEGP RVLNGNPQQE
DGGLAGITEQ QSGAFDRWEM IQAQELHNKL KIKQNLQQLN SDISAITTWL KKTEAELEML
KMAKPPSDIQ EIELRVKRLQ EILKAFDTYK ALVVSVNVSS KEFLQTESPE STELQSRLRQ
LSLLWEAAQG AVDSWRGGLR QSLMQCQDFH QLSQNLLLWL ASAKNRRQKA HVTDPKADPR
ALLECRRELM QLEKELVERQ PQVDMLQEIS NSLLIKGHGE DCIEAEEKVH VIEKKLKQLR
EQVSQDLMAL QGTQNPASPL PSFDEVDSGD QPPATSVPAP RAKFRAVRTT EGEEETESRV
PGSTRPQRSF LSRVVRAALP LQLLLLLLLL LACLLPSSEE DYSCTQANNF ARSFYPMLRY
TNGPPPT*
speed 0.58 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
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.99936262490073 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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 ENST00000357395
Genbank transcript ID N/A
UniProt peptide Q8WXH0
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.9054A>G
g.199773A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
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 splice site change before start ATG (at aa -698) |
effectgDNA positionscoredetection 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? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
1286DOMAINActin-binding.might get lost (downstream of altered splice site)
16834TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
31136DOMAINCH 1.might get lost (downstream of altered splice site)
181286DOMAINCH 2.might get lost (downstream of altered splice site)
233255COILEDPotential.might get lost (downstream of altered splice site)
306323COILEDPotential.might get lost (downstream of altered splice site)
461477COILEDPotential.might get lost (downstream of altered splice site)
668668CONFLICTMissing (in Ref. 3).might get lost (downstream of altered splice site)
810909COILEDPotential.might get lost (downstream of altered splice site)
841841MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
941972COILEDPotential.might get lost (downstream of altered splice site)
955955MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
10081041COILEDPotential.might get lost (downstream of altered splice site)
10871087CONFLICTM -> T (in Ref. 3).might get lost (downstream of altered splice site)
11941222COILEDPotential.might get lost (downstream of altered splice site)
12991332COILEDPotential.might get lost (downstream of altered splice site)
14621494COILEDPotential.might get lost (downstream of altered splice site)
15661602COILEDPotential.might get lost (downstream of altered splice site)
16581708COILEDPotential.might get lost (downstream of altered splice site)
17471771COILEDPotential.might get lost (downstream of altered splice site)
17821804COILEDPotential.might get lost (downstream of altered splice site)
19231965COILEDPotential.might get lost (downstream of altered splice site)
20072035COILEDPotential.might get lost (downstream of altered splice site)
21762205COILEDPotential.might get lost (downstream of altered splice site)
22822369COILEDPotential.might get lost (downstream of altered splice site)
24222478COILEDPotential.might get lost (downstream of altered splice site)
25892650COILEDPotential.might get lost (downstream of altered splice site)
26552655MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
26962717COILEDPotential.might get lost (downstream of altered splice site)
28022835COILEDPotential.might get lost (downstream of altered splice site)
28662975COILEDPotential.might get lost (downstream of altered splice site)
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 N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 11145 / 11145
chromosome 14
strand 1
last intron/exon boundary 20750
theoretical NMD boundary in CDS 9555
length of CDS 9813
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 9054
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 MEKLRIKYSE MYTIVPAEIE SQVEECRKAL EDIDEKISNE VLKSSPSYAM RRKIEEINNG
LHNVEKMLQQ KSKNIEKAQE IQKKMWDELD LWHSKLNELD SEVQDIVEQD PGQAQEWMDN
LMIPFQQYQQ VSQRAECRTS QLNKATVKME EYSDLLKSTE AWIENTSHLL ANPADYDSLR
TLSHHASTVQ DSKCFRSGPR PNIYVSYYVT VIQMALEDSE QKHNLLHSIF MDLEDLSIIF
ETDELTQSIQ ELSNQVTALQ QKIMESLPQI QRMADDVVAI ESEVKSMEKR VSKIKTILLS
KEIFDFSPEE HLKHGEVILE NIRPMKKTIA EIVSYQVELR LPQTGMKPLP VFQRTNQLLQ
DIKLLENVTQ EQNELLKVVI KQTNEWDEEI ENLKQILNNY SAQFSLEHMS PDQADKLPQL
QGEIERMEKQ ILSLNQRKED LLVDLKATVL NLHQHLKQEQ EGVERDRLPA VTSEEGGVAE
RDASERKLNR RGSMSYLAAV EEEVEESSVK SDNGDEKAEP SPQSWSSLWK HDKDMEEDRA
SSSSGTIVQE AYGKISTSDN SMAQILTPDS LNTEQGPECS LRPNQTEEGT TPPIEADTLD
SSDAQGGLEP RVEKTRPEPT EVLHACKTQV AELELWLQQA NVAVEPETLN ADMQQVLEQQ
LVGCQAMLTE IEHKVAFLLE TCKDQGLGDN GATQHEAEAL SLKLKTVKCN LEKVQMMLQE
KHSEDQHPTI LKKSSEPEHQ EALQPVNLSE LESIVTERPQ FSRQKDFQQQ QVLELKPMEQ
KDFIKFIEFN AKKMWPQYCQ HDNDTTQESS ASNQASSPEN DVPDSILSPQ GQNGDKWQYL
HHELSSKIKL PLPQLVEPQV STNMGILPSV TMYNFRYPTT EELKTYTTQL EDLRQEASNL
QTQENMTEEA YINLDKKLFE LFLTLSQCLS SVEEMLEMPR LYREDGSGQQ VHYETLALEL
KKLYLALSDK KGDLLKAMTW PGENTNLLLE CFDNLQVCLE HTQAAAVCRS KSLKAGLDYN
RSYQNEIKRL YHQLIKSKTS LQQSLNEISG QSVAEQLQKA DAYTVELENA ESRVAKLRDE
GERLHLPYAL LQEVYKLEDV LDSMWGMLRA RYTELSSPFV TESQQDALLQ GMVELVKIGK
EKLAHGHLKQ TKSKVALQAQ IENHKVFFQK LVADMLLIQA YSAKILPSLL QNRETFWAEQ
VTEVKILEEK SRQCGMKLQS LLQKWEEFDE NYASLEKDLE ILISTLPSVS LVEETEERLV
ERISFYQQIK RNIGGKHARL YQTLNEGKQL VASVSCPELE GQIAKLEEQW LSLNKKIDHE
LHRLQALLKH LLSYNRDSDQ LTKWLESSQH TLNYWKEQSL NVSQDLDTIR SNINNFFEFS
KEVDEKSSLK TAVISIGNQL LHLKETDTAT LRASLAQFEQ KWTMLITQLP DIQEKLHQLQ
MEKLPSRKAI TEMISWMNNV EHQTSDEDSV HSPSSASQVK HLLQKHKEFR MEMDYKQWIV
DFVNQSLLQL STCDVESKRY ERTEFAEHLG EMNRQWHRVH GMLNRKIQHL EQLLESITES
ENKIQILNNW LEAQEERLKT LQKPESVISV QKLLLDCQDI ENQLAIKSKA LDELKQSYLT
LESGAVPLLE DTASRIDELF QKRSSVLTQV NQLKTSMQSV LQEWKIYDQL YDEVNMMTIR
FWYCMEHSKP VVLSLETLRC QVENLQSLQD EAESSEGSWE KLQEVIGKLK GLCPSVAEII
EEKCQNTHKR WTQVNQAIAD QLQKAQSLLQ LWKAYSNAHG EAAARLKQQE AKFQQLANIS
MSGNNLAEIL PPALQDIKEL QHDVQKTKEA FLQNSSVLDR LPQPAESSTH MLLPGPLHSL
QRAAYLEKML LVKANEFEFV LSQFKDFGVR LESLKGLIMH EEENLDRLHQ QEKENPDSFL
NHVLALTAQS PDIEHLNEVS LKLPLSDVAV KTLQNMNRQW IRATATALER CSELQGIGLN
EKFLYCCEKW IQLLEKIEEA LKVDVANSLP ELLEQQKTYK MLEAEVSINQ TIADSYVTQS
LQLLDTTEIE NRPEFITEFS KLTDRWQNAV QGVRQRKGDV DGLVRQWQDF TTSVENLFRF
LTDTSHLLSA VKGQERFSLY QTRSLIHELK NKEIHFQRRR TTCALTLEAG EKLLLTTDLK
TKESVGRRIS QLQDSWKDME PQLAEMIKQF QSTVETWDQC EKKIKELKSR LQVLKAQSED
PLPELHEDLH NEKELIKELE QSLASWTQNL KELQTMKADL TRHVLVEDVM VLKEQIEHLH
RQWEDLCLRV AIRKQEIEDR LNTWVVFNEK NKELCAWLVQ MENKVLQTAD ISIEEMIEKL
QKDCMEEINL FSENKLQLKQ MGDQLIKASN KSRAAEIDDK LNKINDRWQH LFDVIGSRVK
KLKETFAFIQ QLDKNMSNLR TWLARIESEL SKPVVYDVCD DQEIQKRLAE QQDLQRDIEQ
HSAGVESVFN ICDVLLHDSD ACANETECDS IQQTTRSLDR RWRNICAMSM ERRMKIEETW
RLWQKFLDDY SRFEDWLKSA ERTAACPNSS EVLYTSAKEE LKRFEAFQRQ IHERLTQLEL
INKQYRRLAR ENRTDTASRL KQMVHEGNQR WDNLQRRVTA VLRRLRHFTN QREEFEGTRE
SILVWLTEMD LQLTNVEHFS ESDADDKMRQ LNGFQQEITL NTNKIDQLIV FGEQLIQKSE
PLDAVLIEDE LEELHRYCQE VFGRVSRFHR RLTSCTPGLE DEKEASENET DMEDPREIQT
DSWRKRGESE EPSSPQSLCH LVAPGHERSG CETPVSVDSI PLEWDHTGDV GGSSSHEEDE
EGPYYSALSG KSISDGHSWH VPDSPSCPEH HYKQMEGDRN VPPVPPASST PYKPPYGKLL
LPPGTDGGKE GPRVLNGNPQ QEDGGLAGIT EQQSGAFDRW EMIQAQELHN KLKIKQNLQQ
LNSDISAITT WLKKTEAELE MLKMAKPPSD IQEIELRVKR LQEILKAFDT YKALVVSVNV
SSKEFLQTES PESTELQSRL RQLSLLWEAA QGAVDSWRGG LRQSLMQCQD FHQLSQNLLL
WLASAKNRRQ KAHVTDPKAD PRALLECRRE LMQLEKELVE RQPQVDMLQE ISNSLLIKGH
GEDCIEAEEK VHVIEKKLKQ LREQVSQDLM ALQGTQNPAS PLPSFDEVDS GDQPPATSVP
APRAKQFRAV RTTEGEEETE SRVPGSTRPQ RSFLSRVVRA ALPLQLLLLL LLLLACLLPS
SEEDYSCTQA NNFARSFYPM LRYTNGPPPT *
mutated AA sequence N/A
speed 0.40 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
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Problems