Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999528783055013 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM168220)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:145001031T>CN/A show variant in all transcripts   IGV
HGNC symbol PLEC
Ensembl transcript ID ENST00000354589
Genbank transcript ID NM_201382
UniProt peptide Q15149
alteration type single base exchange
alteration region CDS
DNA changes c.3965A>G
cDNA.4033A>G
g.49872A>G
AA changes H1322R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1322
frameshift no
known variant Reference ID: rs55895668
databasehomozygous (C/C)heterozygousallele carriers
1000G7388611599
ExAC11616953521151

known disease mutation at this position, please check HGMD for details (HGMD ID CM168220)
regulatory features H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1380.952
1.2590.957
(flanking)2.8740.952
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 increased49877wt: 0.6827 / mu: 0.7429 (marginal change - not scored)wt: ACTACAGCGAGCTGA
mu: GCTACAGCGAGCTGA		 TACA|gcga
distance from splice site 20
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1322SVIQEYVDLRTHYSELTTLTSQYI
mutated  not conserved    1322TRYSELTTLTSQY
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000000388  1460SVIQEYVDLRTRYSELTTLTSQY
Fcatus  no alignment  ENSFCAG00000001046  n/a
Mmusculus  not conserved  ENSMUSG00000022565  1467SVIQEYVDLRTRYSELTTLTSQY
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000003715  1470NIIQEYVTLRTQYSELMTLTSQY
Drerio  not conserved  ENSDARG00000021987  1350NIIQEYVTLRTRYSELMTLTSQY
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
11470REGIONGlobular 1.lost
13151415REPEATSpectrin 4.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 13644 / 13644
position (AA) of stopcodon in wt / mu AA sequence 4548 / 4548
position of stopcodon in wt / mu cDNA 13712 / 13712
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 69 / 69
chromosome 8
strand -1
last intron/exon boundary 7494
theoretical NMD boundary in CDS 7375
length of CDS 13644
coding sequence (CDS) position 3965
cDNA position
(for ins/del: last normal base / first normal base)		 4033
gDNA position
(for ins/del: last normal base / first normal base)		 49872
chromosomal position
(for ins/del: last normal base / first normal base)		 145001031
original gDNA sequence snippet GTACGTGGACCTGCGTACGCACTACAGCGAGCTGACCACAC
altered gDNA sequence snippet GTACGTGGACCTGCGTACGCGCTACAGCGAGCTGACCACAC
original cDNA sequence snippet GTACGTGGACCTGCGTACGCACTACAGCGAGCTGACCACAC
altered cDNA sequence snippet GTACGTGGACCTGCGTACGCGCTACAGCGAGCTGACCACAC
wildtype AA sequence MEPSGSLFPS LVVVGHVVTL AAVWHWRRGR RWAQDEQDER DRVQKKTFTK WVNKHLIKAQ
RHISDLYEDL RDGHNLISLL EVLSGDSLPR EKGRMRFHKL QNVQIALDYL RHRQVKLVNI
RNDDIADGNP KLTLGLIWTI ILHFQISDIQ VSGQSEDMTA KEKLLLWSQR MVEGYQGLRC
DNFTSSWRDG RLFNAIIHRH KPLLIDMNKV YRQTNLENLD QAFSVAERDL GVTRLLDPED
VDVPQPDEKS IITYVSSLYD AMPRVPDVQD GVRANELQLR WQEYRELVLL LLQWMRHHTA
AFEERRFPSS FEEIEILWSQ FLKFKEMELP AKEADKNRSK GIYQSLEGAV QAGQLKVPPG
YHPLDVEKEW GKLHVAILER EKQLRSEFER LECLQRIVTK LQMEAGLCEE QLNQADALLQ
SDVRLLAAGK VPQRAGEVER DLDKADSMIR LLFNDVQTLK DGRHPQGEQM YRRVYRLHER
LVAIRTEYNL RLKAGVAAPA TQVAQVTLQS VQRRPELEDS TLRYLQDLLA WVEENQHRVD
GAEWGVDLPS VEAQLGSHRG LHQSIEEFRA KIERARSDEG QLSPATRGAY RDCLGRLDLQ
YAKLLNSSKA RLRSLESLHS FVAAATKELM WLNEKEEEEV GFDWSDRNTN MTAKKESYSA
LMRELELKEK KIKELQNAGD RLLREDHPAR PTVESFQAAL QTQWSWMLQL CCCIEAHLKE
NAAYFQFFSD VREAEGQLQK LQEALRRKYS CDRSATVTRL EDLLQDAQDE KEQLNEYKGH
LSGLAKRAKA VVQLKPRHPA HPMRGRLPLL AVCDYKQVEV TVHKGDECQL VGPAQPSHWK
VLSSSGSEAA VPSVCFLVPP PNQEAQEAVT RLEAQHQALV TLWHQLHVDM KSLLAWQSLR
RDVQLIRSWS LATFRTLKPE EQRQALHSLE LHYQAFLRDS QDAGGFGPED RLMAEREYGS
CSHHYQQLLQ SLEQGAQEES RCQRCISELK DIRLQLEACE TRTVHRLRLP LDKEPARECA
QRIAEQQKAQ AEVEGLGKGV ARLSAEAEKV LALPEPSPAA PTLRSELELT LGKLEQVRSL
SAIYLEKLKT ISLVIRGTQG AEEVLRAHEE QLKEAQAVPA TLPELEATKA SLKKLRAQAE
AQQPTFDALR DELRGAQEVG ERLQQRHGER DVEVERWRER VAQLLERWQA VLAQTDVRQR
ELEQLGRQLR YYRESADPLG AWLQDARRRQ EQIQAMPLAD SQAVREQLRQ EQALLEEIER
HGEKVEECQR FAKQYINAIK DYELQLVTYK AQLEPVASPA KKPKVQSGSE SVIQEYVDLR
THYSELTTLT SQYIKFISET LRRMEEEERL AEQQRAEERE RLAEVEAALE KQRQLAEAHA
QAKAQAEREA KELQQRMQEE VVRREEAAVD AQQQKRSIQE ELQQLRQSSE AEIQAKARQA
EAAERSRLRI EEEIRVVRLQ LEATERQRGG AEGELQALRA RAEEAEAQKR QAQEEAERLR
RQVQDESQRK RQAEVELASR VKAEAEAARE KQRALQALEE LRLQAEEAER RLRQAEVERA
RQVQVALETA QRSAEAELQS KRASFAEKTA QLERSLQEEH VAVAQLREEA ERRAQQQAEA
ERAREEAERE LERWQLKANE ALRLRLQAEE VAQQKSLAQA EAEKQKEEAE REARRRGKAE
EQAVRQRELA EQELEKQRQL AEGTAQQRLA AEQELIRLRA ETEQGEQQRQ LLEEELARLQ
REAAAATQKR QELEAELAKV RAEMEVLLAS KARAEEESRS TSEKSKQRLE AEAGRFRELA
EEAARLRALA EEAKRQRQLA EEDAARQRAE AERVLAEKLA AIGEATRLKT EAEIALKEKE
AENERLRRLA EDEAFQRRRL EEQAAQHKAD IEERLAQLRK ASDSELERQK GLVEDTLRQR
RQVEEEILAL KASFEKAAAG KAELELELGR IRSNAEDTLR SKEQAELEAA RQRQLAAEEE
RRRREAEERV QKSLAAEEEA ARQRKAALEE VERLKAKVEE ARRLRERAEQ ESARQLQLAQ
EAAQKRLQAE EKAHAFAVQQ KEQELQQTLQ QEQSVLDQLR GEAEAARRAA EEAEEARVQA
EREAAQSRRQ VEEAERLKQS AEEQAQARAQ AQAAAEKLRK EAEQEAARRA QAEQAALRQK
QAADAEMEKH KKFAEQTLRQ KAQVEQELTT LRLQLEETDH QKNLLDEELQ RLKAEATEAA
RQRSQVEEEL FSVRVQMEEL SKLKARIEAE NRALILRDKD NTQRFLQEEA EKMKQVAEEA
ARLSVAAQEA ARLRQLAEED LAQQRALAEK MLKEKMQAVQ EATRLKAEAE LLQQQKELAQ
EQARRLQEDK EQMAQQLAEE TQGFQRTLEA ERQRQLEMSA EAERLKLRVA EMSRAQARAE
EDAQRFRKQA EEIGEKLHRT ELATQEKVTL VQTLEIQRQQ SDHDAERLRE AIAELEREKE
KLQQEAKLLQ LKSEEMQTVQ QEQLLQETQA LQQSFLSEKD SLLQRERFIE QEKAKLEQLF
QDEVAKAQQL REEQQRQQQQ MEQERQRLVA SMEEARRRQH EAEEGVRRKQ EELQQLEQQR
RQQEELLAEE NQRLREQLQL LEEQHRAALA HSEEVTASQV AATKTLPNGR DALDGPAAEA
EPEHSFDGLR RKVSAQRLQE AGILSAEELQ RLAQGHTTVD ELARREDVRH YLQGRSSIAG
LLLKATNEKL SVYAALQRQL LSPGTALILL EAQAASGFLL DPVRNRRLTV NEAVKEGVVG
PELHHKLLSA ERAVTGYKDP YTGQQISLFQ AMQKGLIVRE HGIRLLEAQI ATGGVIDPVH
SHRVPVDVAY RRGYFDEEMN RVLADPSDDT KGFFDPNTHE NLTYLQLLER CVEDPETGLC
LLPLTDKAAK GGELVYTDSE ARDVFEKATV SAPFGKFQGK TVTIWEIINS EYFTAEQRRD
LLRQFRTGRI TVEKIIKIII TVVEEQEQKG RLCFEGLRSL VPAAELLESR VIDRELYQQL
QRGERSVRDV AEVDTVRRAL RGANVIAGVW LEEAGQKLSI YNALKKDLLP SDMAVALLEA
QAGTGHIIDP ATSARLTVDE AVRAGLVGPE FHEKLLSAEK AVTGYRDPYT GQSVSLFQAL
KKGLIPREQG LRLLDAQLST GGIVDPSKSH RVPLDVACAR GCLDEETSRA LSAPRADAKA
YSDPSTGEPA TYGELQQRCR PDQLTGLSLL PLSEKAARAR QEELYSELQA RETFEKTPVE
VPVGGFKGRT VTVWELISSE YFTAEQRQEL LRQFRTGKVT VEKVIKILIT IVEEVETLRQ
ERLSFSGLRA PVPASELLAS GVLSRAQFEQ LKDGKTTVKD LSELGSVRTL LQGSGCLAGI
YLEDTKEKVS IYEAMRRGLL RATTAALLLE AQAATGFLVD PVRNQRLYVH EAVKAGVVGP
ELHEQLLSAE KAVTGYRDPY SGSTISLFQA MQKGLVLRQH GIRLLEAQIA TGGIIDPVHS
HRVPVDVAYQ RGYFSEEMNR VLADPSDDTK GFFDPNTHEN LTYRQLLERC VEDPETGLRL
LPLKGAEKAE VVETTQVYTE EETRRAFEET QIDIPGGGSH GGSTMSLWEV MQSDLIPEEQ
RAQLMADFQA GRVTKERMII IIIEIIEKTE IIRQQGLASY DYVRRRLTAE DLFEARIISL
ETYNLLREGT RSLREALEAE SAWCYLYGTG SVAGVYLPGS RQTLSIYQAL KKGLLSAEVA
RLLLEAQAAT GFLLDPVKGE RLTVDEAVRK GLVGPELHDR LLSAERAVTG YRDPYTEQTI
SLFQAMKKEL IPTEEALRLL DAQLATGGIV DPRLGFHLPL EVAYQRGYLN KDTHDQLSEP
SEVRSYVDPS TDERLSYTQL LRRCRRDDGT GQLLLPLSDA RKLTFRGLRK QITMEELVRS
QVMDEATALQ LREGLTSIEE VTKNLQKFLE GTSCIAGVFV DATKERLSVY QAMKKGIIRP
GTAFELLEAQ AATGYVIDPI KGLKLTVEEA VRMGIVGPEF KDKLLSAERA VTGYKDPYSG
KLISLFQAMK KGLILKDHGI RLLEAQIATG GIIDPEESHR LPVEVAYKRG LFDEEMNEIL
TDPSDDTKGF FDPNTEENLT YLQLMERCIT DPQTGLCLLP LKEKKRERKT SSKSSVRKRR
VVIVDPETGK EMSVYEAYRK GLIDHQTYLE LSEQECEWEE ITISSSDGVV KSMIIDRRSG
RQYDIDDAIA KNLIDRSALD QYRAGTLSIT EFADMLSGNA GGFRSRSSSV GSSSSYPISP
AVSRTQLASW SDPTEETGPV AGILDTETLE KVSITEAMHR NLVDNITGQR LLEAQACTGG
IIDPSTGERF PVTDAVNKGL VDKIMVDRIN LAQKAFCGFE DPRTKTKMSA AQALKKGWLY
YEAGQRFLEV QYLTGGLIEP DTPGRVPLDE ALQRGTVDAR TAQKLRDVGA YSKYLTCPKT
KLKISYKDAL DRSMVEEGTG LRLLEAAAQS TKGYYSPYSV SGSGSTAGSR TGSRTGSRAG
SRRGSFDATG SGFSMTFSSS SYSSSGYGRR YASGSSASLG GPESAVA*
mutated AA sequence MEPSGSLFPS LVVVGHVVTL AAVWHWRRGR RWAQDEQDER DRVQKKTFTK WVNKHLIKAQ
RHISDLYEDL RDGHNLISLL EVLSGDSLPR EKGRMRFHKL QNVQIALDYL RHRQVKLVNI
RNDDIADGNP KLTLGLIWTI ILHFQISDIQ VSGQSEDMTA KEKLLLWSQR MVEGYQGLRC
DNFTSSWRDG RLFNAIIHRH KPLLIDMNKV YRQTNLENLD QAFSVAERDL GVTRLLDPED
VDVPQPDEKS IITYVSSLYD AMPRVPDVQD GVRANELQLR WQEYRELVLL LLQWMRHHTA
AFEERRFPSS FEEIEILWSQ FLKFKEMELP AKEADKNRSK GIYQSLEGAV QAGQLKVPPG
YHPLDVEKEW GKLHVAILER EKQLRSEFER LECLQRIVTK LQMEAGLCEE QLNQADALLQ
SDVRLLAAGK VPQRAGEVER DLDKADSMIR LLFNDVQTLK DGRHPQGEQM YRRVYRLHER
LVAIRTEYNL RLKAGVAAPA TQVAQVTLQS VQRRPELEDS TLRYLQDLLA WVEENQHRVD
GAEWGVDLPS VEAQLGSHRG LHQSIEEFRA KIERARSDEG QLSPATRGAY RDCLGRLDLQ
YAKLLNSSKA RLRSLESLHS FVAAATKELM WLNEKEEEEV GFDWSDRNTN MTAKKESYSA
LMRELELKEK KIKELQNAGD RLLREDHPAR PTVESFQAAL QTQWSWMLQL CCCIEAHLKE
NAAYFQFFSD VREAEGQLQK LQEALRRKYS CDRSATVTRL EDLLQDAQDE KEQLNEYKGH
LSGLAKRAKA VVQLKPRHPA HPMRGRLPLL AVCDYKQVEV TVHKGDECQL VGPAQPSHWK
VLSSSGSEAA VPSVCFLVPP PNQEAQEAVT RLEAQHQALV TLWHQLHVDM KSLLAWQSLR
RDVQLIRSWS LATFRTLKPE EQRQALHSLE LHYQAFLRDS QDAGGFGPED RLMAEREYGS
CSHHYQQLLQ SLEQGAQEES RCQRCISELK DIRLQLEACE TRTVHRLRLP LDKEPARECA
QRIAEQQKAQ AEVEGLGKGV ARLSAEAEKV LALPEPSPAA PTLRSELELT LGKLEQVRSL
SAIYLEKLKT ISLVIRGTQG AEEVLRAHEE QLKEAQAVPA TLPELEATKA SLKKLRAQAE
AQQPTFDALR DELRGAQEVG ERLQQRHGER DVEVERWRER VAQLLERWQA VLAQTDVRQR
ELEQLGRQLR YYRESADPLG AWLQDARRRQ EQIQAMPLAD SQAVREQLRQ EQALLEEIER
HGEKVEECQR FAKQYINAIK DYELQLVTYK AQLEPVASPA KKPKVQSGSE SVIQEYVDLR
TRYSELTTLT SQYIKFISET LRRMEEEERL AEQQRAEERE RLAEVEAALE KQRQLAEAHA
QAKAQAEREA KELQQRMQEE VVRREEAAVD AQQQKRSIQE ELQQLRQSSE AEIQAKARQA
EAAERSRLRI EEEIRVVRLQ LEATERQRGG AEGELQALRA RAEEAEAQKR QAQEEAERLR
RQVQDESQRK RQAEVELASR VKAEAEAARE KQRALQALEE LRLQAEEAER RLRQAEVERA
RQVQVALETA QRSAEAELQS KRASFAEKTA QLERSLQEEH VAVAQLREEA ERRAQQQAEA
ERAREEAERE LERWQLKANE ALRLRLQAEE VAQQKSLAQA EAEKQKEEAE REARRRGKAE
EQAVRQRELA EQELEKQRQL AEGTAQQRLA AEQELIRLRA ETEQGEQQRQ LLEEELARLQ
REAAAATQKR QELEAELAKV RAEMEVLLAS KARAEEESRS TSEKSKQRLE AEAGRFRELA
EEAARLRALA EEAKRQRQLA EEDAARQRAE AERVLAEKLA AIGEATRLKT EAEIALKEKE
AENERLRRLA EDEAFQRRRL EEQAAQHKAD IEERLAQLRK ASDSELERQK GLVEDTLRQR
RQVEEEILAL KASFEKAAAG KAELELELGR IRSNAEDTLR SKEQAELEAA RQRQLAAEEE
RRRREAEERV QKSLAAEEEA ARQRKAALEE VERLKAKVEE ARRLRERAEQ ESARQLQLAQ
EAAQKRLQAE EKAHAFAVQQ KEQELQQTLQ QEQSVLDQLR GEAEAARRAA EEAEEARVQA
EREAAQSRRQ VEEAERLKQS AEEQAQARAQ AQAAAEKLRK EAEQEAARRA QAEQAALRQK
QAADAEMEKH KKFAEQTLRQ KAQVEQELTT LRLQLEETDH QKNLLDEELQ RLKAEATEAA
RQRSQVEEEL FSVRVQMEEL SKLKARIEAE NRALILRDKD NTQRFLQEEA EKMKQVAEEA
ARLSVAAQEA ARLRQLAEED LAQQRALAEK MLKEKMQAVQ EATRLKAEAE LLQQQKELAQ
EQARRLQEDK EQMAQQLAEE TQGFQRTLEA ERQRQLEMSA EAERLKLRVA EMSRAQARAE
EDAQRFRKQA EEIGEKLHRT ELATQEKVTL VQTLEIQRQQ SDHDAERLRE AIAELEREKE
KLQQEAKLLQ LKSEEMQTVQ QEQLLQETQA LQQSFLSEKD SLLQRERFIE QEKAKLEQLF
QDEVAKAQQL REEQQRQQQQ MEQERQRLVA SMEEARRRQH EAEEGVRRKQ EELQQLEQQR
RQQEELLAEE NQRLREQLQL LEEQHRAALA HSEEVTASQV AATKTLPNGR DALDGPAAEA
EPEHSFDGLR RKVSAQRLQE AGILSAEELQ RLAQGHTTVD ELARREDVRH YLQGRSSIAG
LLLKATNEKL SVYAALQRQL LSPGTALILL EAQAASGFLL DPVRNRRLTV NEAVKEGVVG
PELHHKLLSA ERAVTGYKDP YTGQQISLFQ AMQKGLIVRE HGIRLLEAQI ATGGVIDPVH
SHRVPVDVAY RRGYFDEEMN RVLADPSDDT KGFFDPNTHE NLTYLQLLER CVEDPETGLC
LLPLTDKAAK GGELVYTDSE ARDVFEKATV SAPFGKFQGK TVTIWEIINS EYFTAEQRRD
LLRQFRTGRI TVEKIIKIII TVVEEQEQKG RLCFEGLRSL VPAAELLESR VIDRELYQQL
QRGERSVRDV AEVDTVRRAL RGANVIAGVW LEEAGQKLSI YNALKKDLLP SDMAVALLEA
QAGTGHIIDP ATSARLTVDE AVRAGLVGPE FHEKLLSAEK AVTGYRDPYT GQSVSLFQAL
KKGLIPREQG LRLLDAQLST GGIVDPSKSH RVPLDVACAR GCLDEETSRA LSAPRADAKA
YSDPSTGEPA TYGELQQRCR PDQLTGLSLL PLSEKAARAR QEELYSELQA RETFEKTPVE
VPVGGFKGRT VTVWELISSE YFTAEQRQEL LRQFRTGKVT VEKVIKILIT IVEEVETLRQ
ERLSFSGLRA PVPASELLAS GVLSRAQFEQ LKDGKTTVKD LSELGSVRTL LQGSGCLAGI
YLEDTKEKVS IYEAMRRGLL RATTAALLLE AQAATGFLVD PVRNQRLYVH EAVKAGVVGP
ELHEQLLSAE KAVTGYRDPY SGSTISLFQA MQKGLVLRQH GIRLLEAQIA TGGIIDPVHS
HRVPVDVAYQ RGYFSEEMNR VLADPSDDTK GFFDPNTHEN LTYRQLLERC VEDPETGLRL
LPLKGAEKAE VVETTQVYTE EETRRAFEET QIDIPGGGSH GGSTMSLWEV MQSDLIPEEQ
RAQLMADFQA GRVTKERMII IIIEIIEKTE IIRQQGLASY DYVRRRLTAE DLFEARIISL
ETYNLLREGT RSLREALEAE SAWCYLYGTG SVAGVYLPGS RQTLSIYQAL KKGLLSAEVA
RLLLEAQAAT GFLLDPVKGE RLTVDEAVRK GLVGPELHDR LLSAERAVTG YRDPYTEQTI
SLFQAMKKEL IPTEEALRLL DAQLATGGIV DPRLGFHLPL EVAYQRGYLN KDTHDQLSEP
SEVRSYVDPS TDERLSYTQL LRRCRRDDGT GQLLLPLSDA RKLTFRGLRK QITMEELVRS
QVMDEATALQ LREGLTSIEE VTKNLQKFLE GTSCIAGVFV DATKERLSVY QAMKKGIIRP
GTAFELLEAQ AATGYVIDPI KGLKLTVEEA VRMGIVGPEF KDKLLSAERA VTGYKDPYSG
KLISLFQAMK KGLILKDHGI RLLEAQIATG GIIDPEESHR LPVEVAYKRG LFDEEMNEIL
TDPSDDTKGF FDPNTEENLT YLQLMERCIT DPQTGLCLLP LKEKKRERKT SSKSSVRKRR
VVIVDPETGK EMSVYEAYRK GLIDHQTYLE LSEQECEWEE ITISSSDGVV KSMIIDRRSG
RQYDIDDAIA KNLIDRSALD QYRAGTLSIT EFADMLSGNA GGFRSRSSSV GSSSSYPISP
AVSRTQLASW SDPTEETGPV AGILDTETLE KVSITEAMHR NLVDNITGQR LLEAQACTGG
IIDPSTGERF PVTDAVNKGL VDKIMVDRIN LAQKAFCGFE DPRTKTKMSA AQALKKGWLY
YEAGQRFLEV QYLTGGLIEP DTPGRVPLDE ALQRGTVDAR TAQKLRDVGA YSKYLTCPKT
KLKISYKDAL DRSMVEEGTG LRLLEAAAQS TKGYYSPYSV SGSGSTAGSR TGSRTGSRAG
SRRGSFDATG SGFSMTFSSS SYSSSGYGRR YASGSSASLG GPESAVA*
speed 1.03 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