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 2 transcript(s)...
Querying Taster for transcript #1: ENST00000333891
Querying Taster for transcript #2: ENST00000423517
MT speed 0 s - this script 3.489137 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
PCLOpolymorphism_automatic4.4180805702787e-07simple_aaeaffectedV2475Isingle base exchangers10954696show file
PCLOpolymorphism_automatic4.4180805702787e-07simple_aaeaffectedV2475Isingle base exchangers10954696show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999558191943 (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) chr7:82582846C>TN/A show variant in all transcripts   IGV
HGNC symbol PCLO
Ensembl transcript ID ENST00000333891
Genbank transcript ID NM_033026
UniProt peptide Q9Y6V0
alteration type single base exchange
alteration region CDS
DNA changes c.7423G>A
cDNA.7761G>A
g.209401G>A
AA changes V2475I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2475
frameshift no
known variant Reference ID: rs10954696
databasehomozygous (T/T)heterozygousallele carriers
1000G3249561280
ExAC82661623524501
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0320.267
0.7550.64
(flanking)1.1830.937
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased209407wt: 0.3278 / mu: 0.3426 (marginal change - not scored)wt: GTAATGGATTACCTGTTACAAGAATATGTACTACTGCACCT
mu: GTAATGGATTACCTATTACAAGAATATGTACTACTGCACCT		 acaa|GAAT
Donor marginally increased209404wt: 0.4567 / mu: 0.5219 (marginal change - not scored)wt: CTGTTACAAGAATAT
mu: CTATTACAAGAATAT		 GTTA|caag
Donor increased209402wt: 0.64 / mu: 0.86wt: ACCTGTTACAAGAAT
mu: ACCTATTACAAGAAT		 CTGT|taca
distance from splice site 1675
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2475TTAVLRSNGLPVTRICTTAPPPVP
mutated  all conserved    2475TTAVLRSNGLPITRICTTAPPPV
Ptroglodytes  all identical  ENSPTRG00000019351  2475TTAVLRSNGLPVTRICTTAPPPV
Mmulatta  not conserved  ENSMMUG00000021678  2430----------------TQKPTDI
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000061601  2405ATAARRSNGLPATKICAAAPPPV
Ggallus  not conserved  ENSGALG00000008499  1449RSSSLDSPAQP----SPPSPPPP
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000063299  1682QPLGQGYK---PHVPPPV
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000014217  n/a
protein features
start (aa)end (aa)featuredetails 
29852985MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
30003000MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
31413248COMPBIASGln-rich.might get lost (downstream of altered splice site)
33783378MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
35153515MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
35463546MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
36113611MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
36173617MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
37643764MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
37663766MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
37923896COMPBIASGln-rich.might get lost (downstream of altered splice site)
38973897MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
38983898MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
39393939MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
39553955MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
42154278COMPBIASSer-rich.might get lost (downstream of altered splice site)
42894289MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
42934293MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
42964296MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
43284328MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
44254430STRANDmight get lost (downstream of altered splice site)
44274478DOMAINPDZ.might get lost (downstream of altered splice site)
44344437STRANDmight get lost (downstream of altered splice site)
44424446STRANDmight get lost (downstream of altered splice site)
44564463HELIXmight get lost (downstream of altered splice site)
44704477STRANDmight get lost (downstream of altered splice site)
45654669DOMAINC2 1.might get lost (downstream of altered splice site)
46764676CONFLICTS -> A (in Ref. 3; AAH01304).might get lost (downstream of altered splice site)
46994765COMPBIASSer-rich.might get lost (downstream of altered splice site)
49345039DOMAINC2 2.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 15429 / 15429
position (AA) of stopcodon in wt / mu AA sequence 5143 / 5143
position of stopcodon in wt / mu cDNA 15767 / 15767
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 339 / 339
chromosome 7
strand -1
last intron/exon boundary 15627
theoretical NMD boundary in CDS 15238
length of CDS 15429
coding sequence (CDS) position 7423
cDNA position
(for ins/del: last normal base / first normal base)		 7761
gDNA position
(for ins/del: last normal base / first normal base)		 209401
chromosomal position
(for ins/del: last normal base / first normal base)		 82582846
original gDNA sequence snippet TGAGAAGTAATGGATTACCTGTTACAAGAATATGTACTACT
altered gDNA sequence snippet TGAGAAGTAATGGATTACCTATTACAAGAATATGTACTACT
original cDNA sequence snippet TGAGAAGTAATGGATTACCTGTTACAAGAATATGTACTACT
altered cDNA sequence snippet TGAGAAGTAATGGATTACCTATTACAAGAATATGTACTACT
wildtype AA sequence MGNEASLEGE GLPEGLAAAA AAGGGASGAG SPSHTAIPAG MEADLSQLSE EERRQIAAVM
SRAQGLPKGS VPPAAAESPS MHRKQELDSS HPPKQSGRPP DPGRPAQPGL SKSRTTDTFR
SEQKLPGRSP STISLKESKS RTDLKEEHKS SMMPGFLSEV NALSAVSSVV NKFNPFDLIS
DSEASQEETT KKQKVVQKEQ GKPEGIIKPP LQQQPPKPIP KQQGPGRDPL QQDGTPKSIS
SQQPEKIKSQ PPGTGKPIQG PTQTPQTDHA KLPLQRDASR PQTKQADIVR GESVKPSLPS
PSKPPIQQPT PGKPPAQQPG HEKSQPGPAK PPAQPSGLTK PLAQQPGTVK PPVQPPGTTK
PPAQPLGPAK PPAQQTGSEK PSSEQPGPKA LAQPPGVGKT PAQQPGPAKP PTQQVGTPKP
LAQQPGLQSP AKAPGPTKTP VQQPGPGKIP AQQAGPGKTS AQQTGPTKPP SQLPGPAKPP
PQQPGPAKPP PQQPGSAKPP SQQPGSTKPP PQQPGPAKPS PQQPGSTKPP SQQPGSAKPS
AQQPSPAKPS AQQSTKPVSQ TGSGKPLQPP TVSPSAKQPP SQGLPKTICP LCNTTELLLH
VPEKANFNTC TECQTTVCSL CGFNPNPHLT EVKEWLCLNC QMKRALGGDL APVPSSPQPK
LKTAPVTTTS AVSKSSPQPQ QTSPKKDAAP KQDLSKAPEP KKPPPLVKQP TLHGSPSAKA
KQPPEADSLS KPAPPKEPSV PSEQDKAPVA DDKPKQPKMV KPTTDLVSSS SATTKPDIPS
SKVQSQAEEK TTPPLKTDSA KPSQSFPPTG EKVSPFDSKA IPRPASDSKI ISHPGPSSES
KGQKQVDPVQ KKEEPKKAQT KMSPKPDAKP MPKGSPTPPG PRPTAGQTVP TPQQSPKPQE
QSRRFSLNLG SITDAPKSQP TTPQETVTGK LFGFGASIFS QASNLISTAG QPGPHSQSGP
GAPMKQAPAP SQPPTSQGPP KSTGQAPPAP AKSIPVKKET KAPAAEKLEP KAEQAPTVKR
TETEKKPPPI KDSKSLTAEP QKAVLPTKLE KSPKPESTCP LCKTELNIGS KDPPNFNTCT
ECKNQVCNLC GFNPTPHLTE IQEWLCLNCQ TQRAISGQLG DIRKMPPAPS GPKASPMPVP
TESSSQKTAV PPQVKLVKKQ EQEVKTEAEK VILEKVKETL SMEKIPPMVT TDQKQEESKL
EKDKASALQE KKPLPEEKKL IPEEEKIRSE EKKPLLEEKK PTPEDKKLLP EAKTSAPEEQ
KHDLLKSQVQ IAEEKLEGRV APKTVQEGKQ PQTKMEGLPS GTPQSLPKED DKTTKTIKEQ
PQPPCTAKPD QVEPGKEKTE KEDDKSDTSS SQQPKSPQGL SDTGYSSDGI SSSLGEIPSL
IPTDEKDILK GLKKDSFSQE SSPSSPSDLA KLESTVLSIL EAQASTLADE KSEKKTQPHE
VSPEQPKDQE KTQSLSETLE ITISEEEIKE SQEERKDTFK KDSQQDIPSS KDHKEKSEFV
DDITTRREPY DSVEESSESE NSPVPQRKRR TSVGSSSSDE YKQEDSQGSG EEEDFIRKQI
IEMSADEDAS GSEDDEFIRN QLKEISSSTE SQKKEETKGK GKITAGKHRR LTRKSSTSID
EDAGRRHSWH DEDDEAFDES PELKYRETKS QESEELVVTG GGGLRRFKTI ELNSTIADKY
SAESSQKKTS LYFDEEPELE MESLTDSPED RSRGEGSSSL HASSFTPGTS PTSVSSLDED
SDSSPSHKKG ESKQQRKARH RPHGPLLPTI EDSSEEEELR EEEELLKEQE KQREIEQQQR
KSSSKKSKKD KDELRAQRRR ERPKTPPSNL SPIEDASPTE ELRQAAEMEE LHRSSCSEYS
PSIESDPEGF EISPEKIIEV QKVYKLPTAV SLYSPTDEQS IMQKEGSQKA LKSAEEMYEE
MMHKTHKYKA FPAANERDEV FEKEPLYGGM LIEDYIYESL VEDTYNGSVD GSLLTRQEEE
NGFMQQKGRE QKIRLSEQIY EDPMQKITDL QKEFYELESL HSVVPQEDIV SSSFIIPESH
EIVDLGTMVT STEEERKLLD ADAAYEELMK RQQMQLTPGS SPTQAPIGED MTESTMDFDR
MPDASLTSSV LSGASLTDST SSATLSIPDV KITQHFSTEE IEDEYVTDYT REIQEIIAHE
SLILTYSEPS ESATSVPPSD TPSLTSSVSS VCTTDSSSPI TTLDSITTVY TEPVDMITKF
EDSEEISSST YFPGSIIDYP EEISVSLDRT APPDGRASAD HIVISLSDMA SSIIESVVPK
PEGPVADTVS TDLLISEKDP VKKAKKETGN GIILEVLEAY RDKKELEAER TKSSLSETVF
DHPPSSVIAL PMKEQLSTTY FTSGETFGQE KPASQLPSGS PSVSSLPAKP RPFFRSSSLD
ISAQPPPPPP PPPPPPPPPP PPPPPPLPPP TSPKPTILPK KKLTVASPVT TATPLFDAVT
TLETTAVLRS NGLPVTRICT TAPPPVPPKP SSIPSGLVFT HRPEPSKPPI APKPVIPQLP
TTTQKPTDIH PKPTGLSLTS SMTLNLVTSA DYKLPSPTSP LSPHSNKSSP RFSKSLTETY
VVITLPSEPG TPTDSSASQA ITSWPLGSPS KDLVSVEPVF SVVPPVTAVE IPISSEQTFY
ISGALQTFSA TPVTAPSSFQ AAPTSVTQFL TTEVSKTEVS ATRSTAPSVG LSSISITIPP
EPLALDNIHL EKPQYKEDGK LQLVGDVIDL RTVPKVEVKT TDKCIDLSAS TMDVKRQITA
NEVYGKQISA VQPSIINLSV TSSIVTPVSL ATETVTFVTC TASASYTTGT ESLVGAEHAM
TTPLQLTTSK HAEPPYRIPS DQVFPIAREE APINLSLGTP AHAVTLAITK PVTVPPVGVT
NGWTDSTVSQ GITDGEVVDL STTKSHRTVV TMDESTSSVM TKIIEDEKPV DLTAGRRAVC
CDVVYKLPFG RSCTAQQPAT TLPEDRFGYR DDHYQYDRSG PYGYRGIGGM KPSMSDTNLA
EAGHFFYKSK NAFDYSEGTD TAVDLTSGRV TTGEVMDYSS KTTGPYPETR QVISGAGIST
PQYSTARMTP PPGPQYCVGS VLRSSNGVVY SSVATPTPST FAITTQPGSI FSTTVRDLSG
IHTADAVTSL PAMHHSQPMP RSYFITTGAS ETDIAVTGID ISASLQTITM ESLTAETIDS
VPTLTTASEV FPEVVGDESA LLIVPEEDKQ QQQLDLEREL LELEKIKQQR FAEELEWERQ
EIQRFREQEK IMVQKKLEEL QSMKQHLLFQ QEEERQAQFM MRQETLAQQQ LQLEQIQQLQ
QQLHQQLEEQ KIRQIYQYNY DPSGTASPQT TTEQAILEGQ YAALEGSQFW ATEDATTTAS
AVVAIEIPQS QGWYTVQSDG VTQYIAPPGI LSTVSEIPLT DVVVKEEKQP KKRSSGAKVR
GQYDDMGENM TDDPRSFKKI VDSGVQTDDE DATDRSYVSR RRRTKKSVDT SVQTDDEDQD
EWDMPTRSRR KARVGKYGDS MTEADKTKPL SKVSSIAVQT VAEISVQTEP VGTIRTPSIR
ARVDAKVEII KHISAPEKTY KGGSLGCQTE ADSDTQSPQY LSATSPPKDK KRPTPLEIGY
SSHLRADSTV QLAPSPPKSP KVLYSPISPL SPGKALESAF VPYEKPLPDD ISPQKVLHPD
MAKVPPASPK TAKMMQRSMS DPKPLSPTAD ESSRAPFQYT EGYTTKGSQT MTSSGAQKKV
KRTLPNPPPE EISTGTQSTF STMGTVSRRR ICRTNTMARA KILQDIDREL DLVERESAKL
RKKQAELDEE EKEIDAKLRY LEMGINRRKE ALLKEREKRE RAYLQGVAED RDYMSDSEVS
STRPTRIESQ HGIERPRTAP QTEFSQFIPP QTQTESQLVP PTSPYTQYQY SSPALPTQAP
TSYTQQSHFE QQTLYHQQVS PYQTQPTFQA VATMSFTPQV QPTPTPQPSY QLPSQMMVIQ
QKPRQTTLYL EPKITSNYEV IRNQPLMIAP VSTDNTFAVS HLGSKYNSLD LRIGLEERSS
MASSPISSIS ADSFYADIDH HTPRNYVLID DIGEITKGTA ALSTAFSLHE KDLSKTDRLL
RTTETRRSQE VTDFLAPLQS SSRLHSYVKA EEDPMEDPYE LKLLKHQIKQ EFRRGTESLD
HLAGLSHYYH ADTSYRHFPK SEKYSISRLT LEKQAAKQLP AAILYQKQSK HKKSLIDPKM
SKFSPIQESR DLEPDYSSYM TSSTSSIGGI SSRARLLQDD ITFGLRKNIT DQQKFMGSSL
GTGLGTLGNT IRSALQDEAD KPYSSGSRSR PSSRPSSVYG LDLSIKRDSS SSSLRLKAQE
AEALDVSFSH ASSSARTKPT SLPISQSRGR IPIVAQNSEE ESPLSPVGQP MGMARAAAGP
LPPISADTRD QFGSSHSLPE VQQHMREESR TRGYDRDIAF IMDDFQHAMS DSEAYHLRRE
ETDWFDKPRE SRLENGHGLD RKLPERLVHS RPLSQHQEQI IQMNGKTMHY IFPHARIKIT
RDSKDHTVSG NGLGIRIVGG KEIPGHSGEI GAYIAKILPG GSAEQTGKLM EGMQVLEWNG
IPLTSKTYEE VQSIISQQSG EAEICVRLDL NMLSDSENSQ HLELHEPPKA VDKAKSPGVD
PKQLAAELQK VSLQQSPLVL SSVVEKGSHV HSGPTSAGSS SVPSPGQPGS PSVSKKKHGS
SKPTDGTKVV SHPITGEIQL QINYDLGNLI IHILQARNLV PRDNNGYSDP FVKVYLLPGR
GQVMVVQNAS AEYKRRTKHV QKSLNPEWNQ TVIYKSISME QLKKKTLEVT VWDYDRFSSN
DFLGEVLIDL SSTSHLDNTP RWYPLKEQTE SIDHGKSHSS QSSQQSPKPS VIKSRSHGIF
PDPSKDMQVP TIEKSHSSPG SSKSSSEGHL RSHGPSRSQS KTSVTQTHLE DAGAAIAAAE
AAVQQLRIQP TKPPNHRPAE SSVSTGSSGS SFGSGYSVDS EGSSSTAGET NLFPIPRIGK
MGQNGQEPVK QPGVGVGLAD TEAKTQVMGE IKIALKKEMK TDGEQLIVEI LQCRNITYKF
KSPDHLPDLY VKIYVMNIST QKKVIKKKTR VCRHDREPSF NETFRFSLSP AGHSLQILLF
SNGGKFMKKT LIGEACIWLD KVDLRKRIVN WHKLLVSPTQ TH*
mutated AA sequence MGNEASLEGE GLPEGLAAAA AAGGGASGAG SPSHTAIPAG MEADLSQLSE EERRQIAAVM
SRAQGLPKGS VPPAAAESPS MHRKQELDSS HPPKQSGRPP DPGRPAQPGL SKSRTTDTFR
SEQKLPGRSP STISLKESKS RTDLKEEHKS SMMPGFLSEV NALSAVSSVV NKFNPFDLIS
DSEASQEETT KKQKVVQKEQ GKPEGIIKPP LQQQPPKPIP KQQGPGRDPL QQDGTPKSIS
SQQPEKIKSQ PPGTGKPIQG PTQTPQTDHA KLPLQRDASR PQTKQADIVR GESVKPSLPS
PSKPPIQQPT PGKPPAQQPG HEKSQPGPAK PPAQPSGLTK PLAQQPGTVK PPVQPPGTTK
PPAQPLGPAK PPAQQTGSEK PSSEQPGPKA LAQPPGVGKT PAQQPGPAKP PTQQVGTPKP
LAQQPGLQSP AKAPGPTKTP VQQPGPGKIP AQQAGPGKTS AQQTGPTKPP SQLPGPAKPP
PQQPGPAKPP PQQPGSAKPP SQQPGSTKPP PQQPGPAKPS PQQPGSTKPP SQQPGSAKPS
AQQPSPAKPS AQQSTKPVSQ TGSGKPLQPP TVSPSAKQPP SQGLPKTICP LCNTTELLLH
VPEKANFNTC TECQTTVCSL CGFNPNPHLT EVKEWLCLNC QMKRALGGDL APVPSSPQPK
LKTAPVTTTS AVSKSSPQPQ QTSPKKDAAP KQDLSKAPEP KKPPPLVKQP TLHGSPSAKA
KQPPEADSLS KPAPPKEPSV PSEQDKAPVA DDKPKQPKMV KPTTDLVSSS SATTKPDIPS
SKVQSQAEEK TTPPLKTDSA KPSQSFPPTG EKVSPFDSKA IPRPASDSKI ISHPGPSSES
KGQKQVDPVQ KKEEPKKAQT KMSPKPDAKP MPKGSPTPPG PRPTAGQTVP TPQQSPKPQE
QSRRFSLNLG SITDAPKSQP TTPQETVTGK LFGFGASIFS QASNLISTAG QPGPHSQSGP
GAPMKQAPAP SQPPTSQGPP KSTGQAPPAP AKSIPVKKET KAPAAEKLEP KAEQAPTVKR
TETEKKPPPI KDSKSLTAEP QKAVLPTKLE KSPKPESTCP LCKTELNIGS KDPPNFNTCT
ECKNQVCNLC GFNPTPHLTE IQEWLCLNCQ TQRAISGQLG DIRKMPPAPS GPKASPMPVP
TESSSQKTAV PPQVKLVKKQ EQEVKTEAEK VILEKVKETL SMEKIPPMVT TDQKQEESKL
EKDKASALQE KKPLPEEKKL IPEEEKIRSE EKKPLLEEKK PTPEDKKLLP EAKTSAPEEQ
KHDLLKSQVQ IAEEKLEGRV APKTVQEGKQ PQTKMEGLPS GTPQSLPKED DKTTKTIKEQ
PQPPCTAKPD QVEPGKEKTE KEDDKSDTSS SQQPKSPQGL SDTGYSSDGI SSSLGEIPSL
IPTDEKDILK GLKKDSFSQE SSPSSPSDLA KLESTVLSIL EAQASTLADE KSEKKTQPHE
VSPEQPKDQE KTQSLSETLE ITISEEEIKE SQEERKDTFK KDSQQDIPSS KDHKEKSEFV
DDITTRREPY DSVEESSESE NSPVPQRKRR TSVGSSSSDE YKQEDSQGSG EEEDFIRKQI
IEMSADEDAS GSEDDEFIRN QLKEISSSTE SQKKEETKGK GKITAGKHRR LTRKSSTSID
EDAGRRHSWH DEDDEAFDES PELKYRETKS QESEELVVTG GGGLRRFKTI ELNSTIADKY
SAESSQKKTS LYFDEEPELE MESLTDSPED RSRGEGSSSL HASSFTPGTS PTSVSSLDED
SDSSPSHKKG ESKQQRKARH RPHGPLLPTI EDSSEEEELR EEEELLKEQE KQREIEQQQR
KSSSKKSKKD KDELRAQRRR ERPKTPPSNL SPIEDASPTE ELRQAAEMEE LHRSSCSEYS
PSIESDPEGF EISPEKIIEV QKVYKLPTAV SLYSPTDEQS IMQKEGSQKA LKSAEEMYEE
MMHKTHKYKA FPAANERDEV FEKEPLYGGM LIEDYIYESL VEDTYNGSVD GSLLTRQEEE
NGFMQQKGRE QKIRLSEQIY EDPMQKITDL QKEFYELESL HSVVPQEDIV SSSFIIPESH
EIVDLGTMVT STEEERKLLD ADAAYEELMK RQQMQLTPGS SPTQAPIGED MTESTMDFDR
MPDASLTSSV LSGASLTDST SSATLSIPDV KITQHFSTEE IEDEYVTDYT REIQEIIAHE
SLILTYSEPS ESATSVPPSD TPSLTSSVSS VCTTDSSSPI TTLDSITTVY TEPVDMITKF
EDSEEISSST YFPGSIIDYP EEISVSLDRT APPDGRASAD HIVISLSDMA SSIIESVVPK
PEGPVADTVS TDLLISEKDP VKKAKKETGN GIILEVLEAY RDKKELEAER TKSSLSETVF
DHPPSSVIAL PMKEQLSTTY FTSGETFGQE KPASQLPSGS PSVSSLPAKP RPFFRSSSLD
ISAQPPPPPP PPPPPPPPPP PPPPPPLPPP TSPKPTILPK KKLTVASPVT TATPLFDAVT
TLETTAVLRS NGLPITRICT TAPPPVPPKP SSIPSGLVFT HRPEPSKPPI APKPVIPQLP
TTTQKPTDIH PKPTGLSLTS SMTLNLVTSA DYKLPSPTSP LSPHSNKSSP RFSKSLTETY
VVITLPSEPG TPTDSSASQA ITSWPLGSPS KDLVSVEPVF SVVPPVTAVE IPISSEQTFY
ISGALQTFSA TPVTAPSSFQ AAPTSVTQFL TTEVSKTEVS ATRSTAPSVG LSSISITIPP
EPLALDNIHL EKPQYKEDGK LQLVGDVIDL RTVPKVEVKT TDKCIDLSAS TMDVKRQITA
NEVYGKQISA VQPSIINLSV TSSIVTPVSL ATETVTFVTC TASASYTTGT ESLVGAEHAM
TTPLQLTTSK HAEPPYRIPS DQVFPIAREE APINLSLGTP AHAVTLAITK PVTVPPVGVT
NGWTDSTVSQ GITDGEVVDL STTKSHRTVV TMDESTSSVM TKIIEDEKPV DLTAGRRAVC
CDVVYKLPFG RSCTAQQPAT TLPEDRFGYR DDHYQYDRSG PYGYRGIGGM KPSMSDTNLA
EAGHFFYKSK NAFDYSEGTD TAVDLTSGRV TTGEVMDYSS KTTGPYPETR QVISGAGIST
PQYSTARMTP PPGPQYCVGS VLRSSNGVVY SSVATPTPST FAITTQPGSI FSTTVRDLSG
IHTADAVTSL PAMHHSQPMP RSYFITTGAS ETDIAVTGID ISASLQTITM ESLTAETIDS
VPTLTTASEV FPEVVGDESA LLIVPEEDKQ QQQLDLEREL LELEKIKQQR FAEELEWERQ
EIQRFREQEK IMVQKKLEEL QSMKQHLLFQ QEEERQAQFM MRQETLAQQQ LQLEQIQQLQ
QQLHQQLEEQ KIRQIYQYNY DPSGTASPQT TTEQAILEGQ YAALEGSQFW ATEDATTTAS
AVVAIEIPQS QGWYTVQSDG VTQYIAPPGI LSTVSEIPLT DVVVKEEKQP KKRSSGAKVR
GQYDDMGENM TDDPRSFKKI VDSGVQTDDE DATDRSYVSR RRRTKKSVDT SVQTDDEDQD
EWDMPTRSRR KARVGKYGDS MTEADKTKPL SKVSSIAVQT VAEISVQTEP VGTIRTPSIR
ARVDAKVEII KHISAPEKTY KGGSLGCQTE ADSDTQSPQY LSATSPPKDK KRPTPLEIGY
SSHLRADSTV QLAPSPPKSP KVLYSPISPL SPGKALESAF VPYEKPLPDD ISPQKVLHPD
MAKVPPASPK TAKMMQRSMS DPKPLSPTAD ESSRAPFQYT EGYTTKGSQT MTSSGAQKKV
KRTLPNPPPE EISTGTQSTF STMGTVSRRR ICRTNTMARA KILQDIDREL DLVERESAKL
RKKQAELDEE EKEIDAKLRY LEMGINRRKE ALLKEREKRE RAYLQGVAED RDYMSDSEVS
STRPTRIESQ HGIERPRTAP QTEFSQFIPP QTQTESQLVP PTSPYTQYQY SSPALPTQAP
TSYTQQSHFE QQTLYHQQVS PYQTQPTFQA VATMSFTPQV QPTPTPQPSY QLPSQMMVIQ
QKPRQTTLYL EPKITSNYEV IRNQPLMIAP VSTDNTFAVS HLGSKYNSLD LRIGLEERSS
MASSPISSIS ADSFYADIDH HTPRNYVLID DIGEITKGTA ALSTAFSLHE KDLSKTDRLL
RTTETRRSQE VTDFLAPLQS SSRLHSYVKA EEDPMEDPYE LKLLKHQIKQ EFRRGTESLD
HLAGLSHYYH ADTSYRHFPK SEKYSISRLT LEKQAAKQLP AAILYQKQSK HKKSLIDPKM
SKFSPIQESR DLEPDYSSYM TSSTSSIGGI SSRARLLQDD ITFGLRKNIT DQQKFMGSSL
GTGLGTLGNT IRSALQDEAD KPYSSGSRSR PSSRPSSVYG LDLSIKRDSS SSSLRLKAQE
AEALDVSFSH ASSSARTKPT SLPISQSRGR IPIVAQNSEE ESPLSPVGQP MGMARAAAGP
LPPISADTRD QFGSSHSLPE VQQHMREESR TRGYDRDIAF IMDDFQHAMS DSEAYHLRRE
ETDWFDKPRE SRLENGHGLD RKLPERLVHS RPLSQHQEQI IQMNGKTMHY IFPHARIKIT
RDSKDHTVSG NGLGIRIVGG KEIPGHSGEI GAYIAKILPG GSAEQTGKLM EGMQVLEWNG
IPLTSKTYEE VQSIISQQSG EAEICVRLDL NMLSDSENSQ HLELHEPPKA VDKAKSPGVD
PKQLAAELQK VSLQQSPLVL SSVVEKGSHV HSGPTSAGSS SVPSPGQPGS PSVSKKKHGS
SKPTDGTKVV SHPITGEIQL QINYDLGNLI IHILQARNLV PRDNNGYSDP FVKVYLLPGR
GQVMVVQNAS AEYKRRTKHV QKSLNPEWNQ TVIYKSISME QLKKKTLEVT VWDYDRFSSN
DFLGEVLIDL SSTSHLDNTP RWYPLKEQTE SIDHGKSHSS QSSQQSPKPS VIKSRSHGIF
PDPSKDMQVP TIEKSHSSPG SSKSSSEGHL RSHGPSRSQS KTSVTQTHLE DAGAAIAAAE
AAVQQLRIQP TKPPNHRPAE SSVSTGSSGS SFGSGYSVDS EGSSSTAGET NLFPIPRIGK
MGQNGQEPVK QPGVGVGLAD TEAKTQVMGE IKIALKKEMK TDGEQLIVEI LQCRNITYKF
KSPDHLPDLY VKIYVMNIST QKKVIKKKTR VCRHDREPSF NETFRFSLSP AGHSLQILLF
SNGGKFMKKT LIGEACIWLD KVDLRKRIVN WHKLLVSPTQ TH*
speed 1.00 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: 0.999999558191943 (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) chr7:82582846C>TN/A show variant in all transcripts   IGV
HGNC symbol PCLO
Ensembl transcript ID ENST00000423517
Genbank transcript ID NM_014510
UniProt peptide Q9Y6V0
alteration type single base exchange
alteration region CDS
DNA changes c.7423G>A
cDNA.7761G>A
g.209401G>A
AA changes V2475I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2475
frameshift no
known variant Reference ID: rs10954696
databasehomozygous (T/T)heterozygousallele carriers
1000G3249561280
ExAC82661623524501
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0320.267
0.7550.64
(flanking)1.1830.937
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased209407wt: 0.3278 / mu: 0.3426 (marginal change - not scored)wt: GTAATGGATTACCTGTTACAAGAATATGTACTACTGCACCT
mu: GTAATGGATTACCTATTACAAGAATATGTACTACTGCACCT		 acaa|GAAT
Donor marginally increased209404wt: 0.4567 / mu: 0.5219 (marginal change - not scored)wt: CTGTTACAAGAATAT
mu: CTATTACAAGAATAT		 GTTA|caag
Donor increased209402wt: 0.64 / mu: 0.86wt: ACCTGTTACAAGAAT
mu: ACCTATTACAAGAAT		 CTGT|taca
distance from splice site 1675
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2475TTAVLRSNGLPVTRICTTAPPPVP
mutated  all conserved    2475TTAVLRSNGLPITRICTTAPPPV
Ptroglodytes  all identical  ENSPTRG00000019351  2475TTAVLRSNGLPVTRICTTAPPPV
Mmulatta  not conserved  ENSMMUG00000021678  2430----------------TQKPTDI
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000061601  2405ATAARRSNGLPATKICAAAPPPV
Ggallus  not conserved  ENSGALG00000008499  1449RSSSLDSPAQP----SPPSPPPP
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000063299  1682QPLGQGYK---PHVPPPV
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000014217  n/a
protein features
start (aa)end (aa)featuredetails 
29852985MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
30003000MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
31413248COMPBIASGln-rich.might get lost (downstream of altered splice site)
33783378MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
35153515MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
35463546MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
36113611MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
36173617MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
37643764MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
37663766MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
37923896COMPBIASGln-rich.might get lost (downstream of altered splice site)
38973897MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
38983898MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
39393939MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
39553955MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
42154278COMPBIASSer-rich.might get lost (downstream of altered splice site)
42894289MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
42934293MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
42964296MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
43284328MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
44254430STRANDmight get lost (downstream of altered splice site)
44274478DOMAINPDZ.might get lost (downstream of altered splice site)
44344437STRANDmight get lost (downstream of altered splice site)
44424446STRANDmight get lost (downstream of altered splice site)
44564463HELIXmight get lost (downstream of altered splice site)
44704477STRANDmight get lost (downstream of altered splice site)
45654669DOMAINC2 1.might get lost (downstream of altered splice site)
46764676CONFLICTS -> A (in Ref. 3; AAH01304).might get lost (downstream of altered splice site)
46994765COMPBIASSer-rich.might get lost (downstream of altered splice site)
49345039DOMAINC2 2.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 14808 / 14808
position (AA) of stopcodon in wt / mu AA sequence 4936 / 4936
position of stopcodon in wt / mu cDNA 15146 / 15146
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 339 / 339
chromosome 7
strand -1
last intron/exon boundary 14935
theoretical NMD boundary in CDS 14546
length of CDS 14808
coding sequence (CDS) position 7423
cDNA position
(for ins/del: last normal base / first normal base)		 7761
gDNA position
(for ins/del: last normal base / first normal base)		 209401
chromosomal position
(for ins/del: last normal base / first normal base)		 82582846
original gDNA sequence snippet TGAGAAGTAATGGATTACCTGTTACAAGAATATGTACTACT
altered gDNA sequence snippet TGAGAAGTAATGGATTACCTATTACAAGAATATGTACTACT
original cDNA sequence snippet TGAGAAGTAATGGATTACCTGTTACAAGAATATGTACTACT
altered cDNA sequence snippet TGAGAAGTAATGGATTACCTATTACAAGAATATGTACTACT
wildtype AA sequence MGNEASLEGE GLPEGLAAAA AAGGGASGAG SPSHTAIPAG MEADLSQLSE EERRQIAAVM
SRAQGLPKGS VPPAAAESPS MHRKQELDSS HPPKQSGRPP DPGRPAQPGL SKSRTTDTFR
SEQKLPGRSP STISLKESKS RTDLKEEHKS SMMPGFLSEV NALSAVSSVV NKFNPFDLIS
DSEASQEETT KKQKVVQKEQ GKPEGIIKPP LQQQPPKPIP KQQGPGRDPL QQDGTPKSIS
SQQPEKIKSQ PPGTGKPIQG PTQTPQTDHA KLPLQRDASR PQTKQADIVR GESVKPSLPS
PSKPPIQQPT PGKPPAQQPG HEKSQPGPAK PPAQPSGLTK PLAQQPGTVK PPVQPPGTTK
PPAQPLGPAK PPAQQTGSEK PSSEQPGPKA LAQPPGVGKT PAQQPGPAKP PTQQVGTPKP
LAQQPGLQSP AKAPGPTKTP VQQPGPGKIP AQQAGPGKTS AQQTGPTKPP SQLPGPAKPP
PQQPGPAKPP PQQPGSAKPP SQQPGSTKPP PQQPGPAKPS PQQPGSTKPP SQQPGSAKPS
AQQPSPAKPS AQQSTKPVSQ TGSGKPLQPP TVSPSAKQPP SQGLPKTICP LCNTTELLLH
VPEKANFNTC TECQTTVCSL CGFNPNPHLT EVKEWLCLNC QMKRALGGDL APVPSSPQPK
LKTAPVTTTS AVSKSSPQPQ QTSPKKDAAP KQDLSKAPEP KKPPPLVKQP TLHGSPSAKA
KQPPEADSLS KPAPPKEPSV PSEQDKAPVA DDKPKQPKMV KPTTDLVSSS SATTKPDIPS
SKVQSQAEEK TTPPLKTDSA KPSQSFPPTG EKVSPFDSKA IPRPASDSKI ISHPGPSSES
KGQKQVDPVQ KKEEPKKAQT KMSPKPDAKP MPKGSPTPPG PRPTAGQTVP TPQQSPKPQE
QSRRFSLNLG SITDAPKSQP TTPQETVTGK LFGFGASIFS QASNLISTAG QPGPHSQSGP
GAPMKQAPAP SQPPTSQGPP KSTGQAPPAP AKSIPVKKET KAPAAEKLEP KAEQAPTVKR
TETEKKPPPI KDSKSLTAEP QKAVLPTKLE KSPKPESTCP LCKTELNIGS KDPPNFNTCT
ECKNQVCNLC GFNPTPHLTE IQEWLCLNCQ TQRAISGQLG DIRKMPPAPS GPKASPMPVP
TESSSQKTAV PPQVKLVKKQ EQEVKTEAEK VILEKVKETL SMEKIPPMVT TDQKQEESKL
EKDKASALQE KKPLPEEKKL IPEEEKIRSE EKKPLLEEKK PTPEDKKLLP EAKTSAPEEQ
KHDLLKSQVQ IAEEKLEGRV APKTVQEGKQ PQTKMEGLPS GTPQSLPKED DKTTKTIKEQ
PQPPCTAKPD QVEPGKEKTE KEDDKSDTSS SQQPKSPQGL SDTGYSSDGI SSSLGEIPSL
IPTDEKDILK GLKKDSFSQE SSPSSPSDLA KLESTVLSIL EAQASTLADE KSEKKTQPHE
VSPEQPKDQE KTQSLSETLE ITISEEEIKE SQEERKDTFK KDSQQDIPSS KDHKEKSEFV
DDITTRREPY DSVEESSESE NSPVPQRKRR TSVGSSSSDE YKQEDSQGSG EEEDFIRKQI
IEMSADEDAS GSEDDEFIRN QLKEISSSTE SQKKEETKGK GKITAGKHRR LTRKSSTSID
EDAGRRHSWH DEDDEAFDES PELKYRETKS QESEELVVTG GGGLRRFKTI ELNSTIADKY
SAESSQKKTS LYFDEEPELE MESLTDSPED RSRGEGSSSL HASSFTPGTS PTSVSSLDED
SDSSPSHKKG ESKQQRKARH RPHGPLLPTI EDSSEEEELR EEEELLKEQE KQREIEQQQR
KSSSKKSKKD KDELRAQRRR ERPKTPPSNL SPIEDASPTE ELRQAAEMEE LHRSSCSEYS
PSIESDPEGF EISPEKIIEV QKVYKLPTAV SLYSPTDEQS IMQKEGSQKA LKSAEEMYEE
MMHKTHKYKA FPAANERDEV FEKEPLYGGM LIEDYIYESL VEDTYNGSVD GSLLTRQEEE
NGFMQQKGRE QKIRLSEQIY EDPMQKITDL QKEFYELESL HSVVPQEDIV SSSFIIPESH
EIVDLGTMVT STEEERKLLD ADAAYEELMK RQQMQLTPGS SPTQAPIGED MTESTMDFDR
MPDASLTSSV LSGASLTDST SSATLSIPDV KITQHFSTEE IEDEYVTDYT REIQEIIAHE
SLILTYSEPS ESATSVPPSD TPSLTSSVSS VCTTDSSSPI TTLDSITTVY TEPVDMITKF
EDSEEISSST YFPGSIIDYP EEISVSLDRT APPDGRASAD HIVISLSDMA SSIIESVVPK
PEGPVADTVS TDLLISEKDP VKKAKKETGN GIILEVLEAY RDKKELEAER TKSSLSETVF
DHPPSSVIAL PMKEQLSTTY FTSGETFGQE KPASQLPSGS PSVSSLPAKP RPFFRSSSLD
ISAQPPPPPP PPPPPPPPPP PPPPPPLPPP TSPKPTILPK KKLTVASPVT TATPLFDAVT
TLETTAVLRS NGLPVTRICT TAPPPVPPKP SSIPSGLVFT HRPEPSKPPI APKPVIPQLP
TTTQKPTDIH PKPTGLSLTS SMTLNLVTSA DYKLPSPTSP LSPHSNKSSP RFSKSLTETY
VVITLPSEPG TPTDSSASQA ITSWPLGSPS KDLVSVEPVF SVVPPVTAVE IPISSEQTFY
ISGALQTFSA TPVTAPSSFQ AAPTSVTQFL TTEVSKTEVS ATRSTAPSVG LSSISITIPP
EPLALDNIHL EKPQYKEDGK LQLVGDVIDL RTVPKVEVKT TDKCIDLSAS TMDVKRQITA
NEVYGKQISA VQPSIINLSV TSSIVTPVSL ATETVTFVTC TASASYTTGT ESLVGAEHAM
TTPLQLTTSK HAEPPYRIPS DQVFPIAREE APINLSLGTP AHAVTLAITK PVTVPPVGVT
NGWTDSTVSQ GITDGEVVDL STTKSHRTVV TMDESTSSVM TKIIEDEKPV DLTAGRRAVC
CDVVYKLPFG RSCTAQQPAT TLPEDRFGYR DDHYQYDRSG PYGYRGIGGM KPSMSDTNLA
EAGHFFYKSK NAFDYSEGTD TAVDLTSGRV TTGEVMDYSS KTTGPYPETR QVISGAGIST
PQYSTARMTP PPGPQYCVGS VLRSSNGVVY SSVATPTPST FAITTQPGSI FSTTVRDLSG
IHTADAVTSL PAMHHSQPMP RSYFITTGAS ETDIAVTGID ISASLQTITM ESLTAETIDS
VPTLTTASEV FPEVVGDESA LLIVPEEDKQ QQQLDLEREL LELEKIKQQR FAEELEWERQ
EIQRFREQEK IMVQKKLEEL QSMKQHLLFQ QEEERQAQFM MRQETLAQQQ LQLEQIQQLQ
QQLHQQLEEQ KIRQIYQYNY DPSGTASPQT TTEQAILEGQ YAALEGSQFW ATEDATTTAS
AVVAIEIPQS QGWYTVQSDG VTQYIAPPGI LSTVSEIPLT DVVVKEEKQP KKRSSGAKVR
GQYDDMGENM TDDPRSFKKI VDSGVQTDDE DATDRSYVSR RRRTKKSVDT SVQTDDEDQD
EWDMPTRSRR KARVGKYGDS MTEADKTKPL SKVSSIAVQT VAEISVQTEP VGTIRTPSIR
ARVDAKVEII KHISAPEKTY KGGSLGCQTE ADSDTQSPQY LSATSPPKDK KRPTPLEIGY
SSHLRADSTV QLAPSPPKSP KVLYSPISPL SPGKALESAF VPYEKPLPDD ISPQKVLHPD
MAKVPPASPK TAKMMQRSMS DPKPLSPTAD ESSRAPFQYT EGYTTKGSQT MTSSGAQKKV
KRTLPNPPPE EISTGTQSTF STMGTVSRRR ICRTNTMARA KILQDIDREL DLVERESAKL
RKKQAELDEE EKEIDAKLRY LEMGINRRKE ALLKEREKRE RAYLQGVAED RDYMSDSEVS
STRPTRIESQ HGIERPRTAP QTEFSQFIPP QTQTESQLVP PTSPYTQYQY SSPALPTQAP
TSYTQQSHFE QQTLYHQQVS PYQTQPTFQA VATMSFTPQV QPTPTPQPSY QLPSQMMVIQ
QKPRQTTLYL EPKITSNYEV IRNQPLMIAP VSTDNTFAVS HLGSKYNSLD LRIGLEERSS
MASSPISSIS ADSFYADIDH HTPRNYVLID DIGEITKGTA ALSTAFSLHE KDLSKTDRLL
RTTETRRSQE VTDFLAPLQS SSRLHSYVKA EEDPMEDPYE LKLLKHQIKQ EFRRGTESLD
HLAGLSHYYH ADTSYRHFPK SEKYSISRLT LEKQAAKQLP AAILYQKQSK HKKSLIDPKM
SKFSPIQESR DLEPDYSSYM TSSTSSIGGI SSRARLLQDD ITFGLRKNIT DQQKFMGSSL
GTGLGTLGNT IRSALQDEAD KPYSSGSRSR PSSRPSSVYG LDLSIKRDSS SSSLRLKAQE
AEALDVSFSH ASSSARTKPT SLPISQSRGR IPIVAQNSEE ESPLSPVGQP MGMARAAAGP
LPPISADTRD QFGSSHSLPE VQQHMREESR TRGYDRDIAF IMDDFQHAMS DSEAYHLRRE
ETDWFDKPRE SRLENGHGLD RKLPERLVHS RPLSQHQEQI IQMNGKTMHY IFPHARIKIT
RDSKDHTVSG NGLGIRIVGG KEIPGHSGEI GAYIAKILPG GSAEQTGKLM EGMQVLEWNG
IPLTSKTYEE VQSIISQQSG EAEICVRLDL NMLSDSENSQ HLELHEPPKA VDKAKSPGVD
PKQLAAELQK VSLQQSPLVL SSVVEKGSHV HSGPTSAGSS SVPSPGQPGS PSVSKKKHGS
SKPTDGTKVV SHPITGEIQL QINYDLGNLI IHILQARNLV PRDNNGYSDP FVKVYLLPGR
GQVMVVQNAS AEYKRRTKHV QKSLNPEWNQ TVIYKSISME QLKKKTLEVT VWDYDRFSSN
DFLGEVLIDL SSTSHLDNTP RWYPLKEQTE SIDHGKSHSS QSSQQSPKPS VIKSRSHGIF
PDPSKDMQVP TIEKSHSSPG SSKSSSEGHL RSHGPSRSQS KTSVTQTHLE DAGAAIAAAE
AAVQQLRIQP SKRRK*
mutated AA sequence MGNEASLEGE GLPEGLAAAA AAGGGASGAG SPSHTAIPAG MEADLSQLSE EERRQIAAVM
SRAQGLPKGS VPPAAAESPS MHRKQELDSS HPPKQSGRPP DPGRPAQPGL SKSRTTDTFR
SEQKLPGRSP STISLKESKS RTDLKEEHKS SMMPGFLSEV NALSAVSSVV NKFNPFDLIS
DSEASQEETT KKQKVVQKEQ GKPEGIIKPP LQQQPPKPIP KQQGPGRDPL QQDGTPKSIS
SQQPEKIKSQ PPGTGKPIQG PTQTPQTDHA KLPLQRDASR PQTKQADIVR GESVKPSLPS
PSKPPIQQPT PGKPPAQQPG HEKSQPGPAK PPAQPSGLTK PLAQQPGTVK PPVQPPGTTK
PPAQPLGPAK PPAQQTGSEK PSSEQPGPKA LAQPPGVGKT PAQQPGPAKP PTQQVGTPKP
LAQQPGLQSP AKAPGPTKTP VQQPGPGKIP AQQAGPGKTS AQQTGPTKPP SQLPGPAKPP
PQQPGPAKPP PQQPGSAKPP SQQPGSTKPP PQQPGPAKPS PQQPGSTKPP SQQPGSAKPS
AQQPSPAKPS AQQSTKPVSQ TGSGKPLQPP TVSPSAKQPP SQGLPKTICP LCNTTELLLH
VPEKANFNTC TECQTTVCSL CGFNPNPHLT EVKEWLCLNC QMKRALGGDL APVPSSPQPK
LKTAPVTTTS AVSKSSPQPQ QTSPKKDAAP KQDLSKAPEP KKPPPLVKQP TLHGSPSAKA
KQPPEADSLS KPAPPKEPSV PSEQDKAPVA DDKPKQPKMV KPTTDLVSSS SATTKPDIPS
SKVQSQAEEK TTPPLKTDSA KPSQSFPPTG EKVSPFDSKA IPRPASDSKI ISHPGPSSES
KGQKQVDPVQ KKEEPKKAQT KMSPKPDAKP MPKGSPTPPG PRPTAGQTVP TPQQSPKPQE
QSRRFSLNLG SITDAPKSQP TTPQETVTGK LFGFGASIFS QASNLISTAG QPGPHSQSGP
GAPMKQAPAP SQPPTSQGPP KSTGQAPPAP AKSIPVKKET KAPAAEKLEP KAEQAPTVKR
TETEKKPPPI KDSKSLTAEP QKAVLPTKLE KSPKPESTCP LCKTELNIGS KDPPNFNTCT
ECKNQVCNLC GFNPTPHLTE IQEWLCLNCQ TQRAISGQLG DIRKMPPAPS GPKASPMPVP
TESSSQKTAV PPQVKLVKKQ EQEVKTEAEK VILEKVKETL SMEKIPPMVT TDQKQEESKL
EKDKASALQE KKPLPEEKKL IPEEEKIRSE EKKPLLEEKK PTPEDKKLLP EAKTSAPEEQ
KHDLLKSQVQ IAEEKLEGRV APKTVQEGKQ PQTKMEGLPS GTPQSLPKED DKTTKTIKEQ
PQPPCTAKPD QVEPGKEKTE KEDDKSDTSS SQQPKSPQGL SDTGYSSDGI SSSLGEIPSL
IPTDEKDILK GLKKDSFSQE SSPSSPSDLA KLESTVLSIL EAQASTLADE KSEKKTQPHE
VSPEQPKDQE KTQSLSETLE ITISEEEIKE SQEERKDTFK KDSQQDIPSS KDHKEKSEFV
DDITTRREPY DSVEESSESE NSPVPQRKRR TSVGSSSSDE YKQEDSQGSG EEEDFIRKQI
IEMSADEDAS GSEDDEFIRN QLKEISSSTE SQKKEETKGK GKITAGKHRR LTRKSSTSID
EDAGRRHSWH DEDDEAFDES PELKYRETKS QESEELVVTG GGGLRRFKTI ELNSTIADKY
SAESSQKKTS LYFDEEPELE MESLTDSPED RSRGEGSSSL HASSFTPGTS PTSVSSLDED
SDSSPSHKKG ESKQQRKARH RPHGPLLPTI EDSSEEEELR EEEELLKEQE KQREIEQQQR
KSSSKKSKKD KDELRAQRRR ERPKTPPSNL SPIEDASPTE ELRQAAEMEE LHRSSCSEYS
PSIESDPEGF EISPEKIIEV QKVYKLPTAV SLYSPTDEQS IMQKEGSQKA LKSAEEMYEE
MMHKTHKYKA FPAANERDEV FEKEPLYGGM LIEDYIYESL VEDTYNGSVD GSLLTRQEEE
NGFMQQKGRE QKIRLSEQIY EDPMQKITDL QKEFYELESL HSVVPQEDIV SSSFIIPESH
EIVDLGTMVT STEEERKLLD ADAAYEELMK RQQMQLTPGS SPTQAPIGED MTESTMDFDR
MPDASLTSSV LSGASLTDST SSATLSIPDV KITQHFSTEE IEDEYVTDYT REIQEIIAHE
SLILTYSEPS ESATSVPPSD TPSLTSSVSS VCTTDSSSPI TTLDSITTVY TEPVDMITKF
EDSEEISSST YFPGSIIDYP EEISVSLDRT APPDGRASAD HIVISLSDMA SSIIESVVPK
PEGPVADTVS TDLLISEKDP VKKAKKETGN GIILEVLEAY RDKKELEAER TKSSLSETVF
DHPPSSVIAL PMKEQLSTTY FTSGETFGQE KPASQLPSGS PSVSSLPAKP RPFFRSSSLD
ISAQPPPPPP PPPPPPPPPP PPPPPPLPPP TSPKPTILPK KKLTVASPVT TATPLFDAVT
TLETTAVLRS NGLPITRICT TAPPPVPPKP SSIPSGLVFT HRPEPSKPPI APKPVIPQLP
TTTQKPTDIH PKPTGLSLTS SMTLNLVTSA DYKLPSPTSP LSPHSNKSSP RFSKSLTETY
VVITLPSEPG TPTDSSASQA ITSWPLGSPS KDLVSVEPVF SVVPPVTAVE IPISSEQTFY
ISGALQTFSA TPVTAPSSFQ AAPTSVTQFL TTEVSKTEVS ATRSTAPSVG LSSISITIPP
EPLALDNIHL EKPQYKEDGK LQLVGDVIDL RTVPKVEVKT TDKCIDLSAS TMDVKRQITA
NEVYGKQISA VQPSIINLSV TSSIVTPVSL ATETVTFVTC TASASYTTGT ESLVGAEHAM
TTPLQLTTSK HAEPPYRIPS DQVFPIAREE APINLSLGTP AHAVTLAITK PVTVPPVGVT
NGWTDSTVSQ GITDGEVVDL STTKSHRTVV TMDESTSSVM TKIIEDEKPV DLTAGRRAVC
CDVVYKLPFG RSCTAQQPAT TLPEDRFGYR DDHYQYDRSG PYGYRGIGGM KPSMSDTNLA
EAGHFFYKSK NAFDYSEGTD TAVDLTSGRV TTGEVMDYSS KTTGPYPETR QVISGAGIST
PQYSTARMTP PPGPQYCVGS VLRSSNGVVY SSVATPTPST FAITTQPGSI FSTTVRDLSG
IHTADAVTSL PAMHHSQPMP RSYFITTGAS ETDIAVTGID ISASLQTITM ESLTAETIDS
VPTLTTASEV FPEVVGDESA LLIVPEEDKQ QQQLDLEREL LELEKIKQQR FAEELEWERQ
EIQRFREQEK IMVQKKLEEL QSMKQHLLFQ QEEERQAQFM MRQETLAQQQ LQLEQIQQLQ
QQLHQQLEEQ KIRQIYQYNY DPSGTASPQT TTEQAILEGQ YAALEGSQFW ATEDATTTAS
AVVAIEIPQS QGWYTVQSDG VTQYIAPPGI LSTVSEIPLT DVVVKEEKQP KKRSSGAKVR
GQYDDMGENM TDDPRSFKKI VDSGVQTDDE DATDRSYVSR RRRTKKSVDT SVQTDDEDQD
EWDMPTRSRR KARVGKYGDS MTEADKTKPL SKVSSIAVQT VAEISVQTEP VGTIRTPSIR
ARVDAKVEII KHISAPEKTY KGGSLGCQTE ADSDTQSPQY LSATSPPKDK KRPTPLEIGY
SSHLRADSTV QLAPSPPKSP KVLYSPISPL SPGKALESAF VPYEKPLPDD ISPQKVLHPD
MAKVPPASPK TAKMMQRSMS DPKPLSPTAD ESSRAPFQYT EGYTTKGSQT MTSSGAQKKV
KRTLPNPPPE EISTGTQSTF STMGTVSRRR ICRTNTMARA KILQDIDREL DLVERESAKL
RKKQAELDEE EKEIDAKLRY LEMGINRRKE ALLKEREKRE RAYLQGVAED RDYMSDSEVS
STRPTRIESQ HGIERPRTAP QTEFSQFIPP QTQTESQLVP PTSPYTQYQY SSPALPTQAP
TSYTQQSHFE QQTLYHQQVS PYQTQPTFQA VATMSFTPQV QPTPTPQPSY QLPSQMMVIQ
QKPRQTTLYL EPKITSNYEV IRNQPLMIAP VSTDNTFAVS HLGSKYNSLD LRIGLEERSS
MASSPISSIS ADSFYADIDH HTPRNYVLID DIGEITKGTA ALSTAFSLHE KDLSKTDRLL
RTTETRRSQE VTDFLAPLQS SSRLHSYVKA EEDPMEDPYE LKLLKHQIKQ EFRRGTESLD
HLAGLSHYYH ADTSYRHFPK SEKYSISRLT LEKQAAKQLP AAILYQKQSK HKKSLIDPKM
SKFSPIQESR DLEPDYSSYM TSSTSSIGGI SSRARLLQDD ITFGLRKNIT DQQKFMGSSL
GTGLGTLGNT IRSALQDEAD KPYSSGSRSR PSSRPSSVYG LDLSIKRDSS SSSLRLKAQE
AEALDVSFSH ASSSARTKPT SLPISQSRGR IPIVAQNSEE ESPLSPVGQP MGMARAAAGP
LPPISADTRD QFGSSHSLPE VQQHMREESR TRGYDRDIAF IMDDFQHAMS DSEAYHLRRE
ETDWFDKPRE SRLENGHGLD RKLPERLVHS RPLSQHQEQI IQMNGKTMHY IFPHARIKIT
RDSKDHTVSG NGLGIRIVGG KEIPGHSGEI GAYIAKILPG GSAEQTGKLM EGMQVLEWNG
IPLTSKTYEE VQSIISQQSG EAEICVRLDL NMLSDSENSQ HLELHEPPKA VDKAKSPGVD
PKQLAAELQK VSLQQSPLVL SSVVEKGSHV HSGPTSAGSS SVPSPGQPGS PSVSKKKHGS
SKPTDGTKVV SHPITGEIQL QINYDLGNLI IHILQARNLV PRDNNGYSDP FVKVYLLPGR
GQVMVVQNAS AEYKRRTKHV QKSLNPEWNQ TVIYKSISME QLKKKTLEVT VWDYDRFSSN
DFLGEVLIDL SSTSHLDNTP RWYPLKEQTE SIDHGKSHSS QSSQQSPKPS VIKSRSHGIF
PDPSKDMQVP TIEKSHSSPG SSKSSSEGHL RSHGPSRSQS KTSVTQTHLE DAGAAIAAAE
AAVQQLRIQP SKRRK*
speed 0.49 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