Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999651097625385 (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 ENST00000356346
Genbank transcript ID NM_201378
UniProt peptide Q15149
alteration type single base exchange
alteration region CDS
DNA changes c.3923A>G
cDNA.3980A>G
g.49872A>G
AA changes H1308R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1308
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      1308SVIQEYVDLRTHYSELTTLTSQYI
mutated  not conserved    1308SVIQEYVDLRTRYSELTTLTSQY
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
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 13602 / 13602
position (AA) of stopcodon in wt / mu AA sequence 4534 / 4534
position of stopcodon in wt / mu cDNA 13659 / 13659
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 58 / 58
chromosome 8
strand -1
last intron/exon boundary 7441
theoretical NMD boundary in CDS 7333
length of CDS 13602
coding sequence (CDS) position 3923
cDNA position
(for ins/del: last normal base / first normal base)		 3980
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 MAGPLPDEQD FIQAYEEVRE KYKDERDRVQ KKTFTKWVNK HLIKAQRHIS DLYEDLRDGH
NLISLLEVLS GDSLPREKGR MRFHKLQNVQ IALDYLRHRQ VKLVNIRNDD IADGNPKLTL
GLIWTIILHF QISDIQVSGQ SEDMTAKEKL LLWSQRMVEG YQGLRCDNFT SSWRDGRLFN
AIIHRHKPLL IDMNKVYRQT NLENLDQAFS VAERDLGVTR LLDPEDVDVP QPDEKSIITY
VSSLYDAMPR VPDVQDGVRA NELQLRWQEY RELVLLLLQW MRHHTAAFEE RRFPSSFEEI
EILWSQFLKF KEMELPAKEA DKNRSKGIYQ SLEGAVQAGQ LKVPPGYHPL DVEKEWGKLH
VAILEREKQL RSEFERLECL QRIVTKLQME AGLCEEQLNQ ADALLQSDVR LLAAGKVPQR
AGEVERDLDK ADSMIRLLFN DVQTLKDGRH PQGEQMYRRV YRLHERLVAI RTEYNLRLKA
GVAAPATQVA QVTLQSVQRR PELEDSTLRY LQDLLAWVEE NQHRVDGAEW GVDLPSVEAQ
LGSHRGLHQS IEEFRAKIER ARSDEGQLSP ATRGAYRDCL GRLDLQYAKL LNSSKARLRS
LESLHSFVAA ATKELMWLNE KEEEEVGFDW SDRNTNMTAK KESYSALMRE LELKEKKIKE
LQNAGDRLLR EDHPARPTVE SFQAALQTQW SWMLQLCCCI EAHLKENAAY FQFFSDVREA
EGQLQKLQEA LRRKYSCDRS ATVTRLEDLL QDAQDEKEQL NEYKGHLSGL AKRAKAVVQL
KPRHPAHPMR GRLPLLAVCD YKQVEVTVHK GDECQLVGPA QPSHWKVLSS SGSEAAVPSV
CFLVPPPNQE AQEAVTRLEA QHQALVTLWH QLHVDMKSLL AWQSLRRDVQ LIRSWSLATF
RTLKPEEQRQ ALHSLELHYQ AFLRDSQDAG GFGPEDRLMA EREYGSCSHH YQQLLQSLEQ
GAQEESRCQR CISELKDIRL QLEACETRTV HRLRLPLDKE PARECAQRIA EQQKAQAEVE
GLGKGVARLS AEAEKVLALP EPSPAAPTLR SELELTLGKL EQVRSLSAIY LEKLKTISLV
IRGTQGAEEV LRAHEEQLKE AQAVPATLPE LEATKASLKK LRAQAEAQQP TFDALRDELR
GAQEVGERLQ QRHGERDVEV ERWRERVAQL LERWQAVLAQ TDVRQRELEQ LGRQLRYYRE
SADPLGAWLQ DARRRQEQIQ AMPLADSQAV REQLRQEQAL LEEIERHGEK VEECQRFAKQ
YINAIKDYEL QLVTYKAQLE PVASPAKKPK VQSGSESVIQ EYVDLRTHYS ELTTLTSQYI
KFISETLRRM EEEERLAEQQ RAEERERLAE VEAALEKQRQ LAEAHAQAKA QAEREAKELQ
QRMQEEVVRR EEAAVDAQQQ KRSIQEELQQ LRQSSEAEIQ AKARQAEAAE RSRLRIEEEI
RVVRLQLEAT ERQRGGAEGE LQALRARAEE AEAQKRQAQE EAERLRRQVQ DESQRKRQAE
VELASRVKAE AEAAREKQRA LQALEELRLQ AEEAERRLRQ AEVERARQVQ VALETAQRSA
EAELQSKRAS FAEKTAQLER SLQEEHVAVA QLREEAERRA QQQAEAERAR EEAERELERW
QLKANEALRL RLQAEEVAQQ KSLAQAEAEK QKEEAEREAR RRGKAEEQAV RQRELAEQEL
EKQRQLAEGT AQQRLAAEQE LIRLRAETEQ GEQQRQLLEE ELARLQREAA AATQKRQELE
AELAKVRAEM EVLLASKARA EEESRSTSEK SKQRLEAEAG RFRELAEEAA RLRALAEEAK
RQRQLAEEDA ARQRAEAERV LAEKLAAIGE ATRLKTEAEI ALKEKEAENE RLRRLAEDEA
FQRRRLEEQA AQHKADIEER LAQLRKASDS ELERQKGLVE DTLRQRRQVE EEILALKASF
EKAAAGKAEL ELELGRIRSN AEDTLRSKEQ AELEAARQRQ LAAEEERRRR EAEERVQKSL
AAEEEAARQR KAALEEVERL KAKVEEARRL RERAEQESAR QLQLAQEAAQ KRLQAEEKAH
AFAVQQKEQE LQQTLQQEQS VLDQLRGEAE AARRAAEEAE EARVQAEREA AQSRRQVEEA
ERLKQSAEEQ AQARAQAQAA AEKLRKEAEQ EAARRAQAEQ AALRQKQAAD AEMEKHKKFA
EQTLRQKAQV EQELTTLRLQ LEETDHQKNL LDEELQRLKA EATEAARQRS QVEEELFSVR
VQMEELSKLK ARIEAENRAL ILRDKDNTQR FLQEEAEKMK QVAEEAARLS VAAQEAARLR
QLAEEDLAQQ RALAEKMLKE KMQAVQEATR LKAEAELLQQ QKELAQEQAR RLQEDKEQMA
QQLAEETQGF QRTLEAERQR QLEMSAEAER LKLRVAEMSR AQARAEEDAQ RFRKQAEEIG
EKLHRTELAT QEKVTLVQTL EIQRQQSDHD AERLREAIAE LEREKEKLQQ EAKLLQLKSE
EMQTVQQEQL LQETQALQQS FLSEKDSLLQ RERFIEQEKA KLEQLFQDEV AKAQQLREEQ
QRQQQQMEQE RQRLVASMEE ARRRQHEAEE GVRRKQEELQ QLEQQRRQQE ELLAEENQRL
REQLQLLEEQ HRAALAHSEE VTASQVAATK TLPNGRDALD GPAAEAEPEH SFDGLRRKVS
AQRLQEAGIL SAEELQRLAQ GHTTVDELAR REDVRHYLQG RSSIAGLLLK ATNEKLSVYA
ALQRQLLSPG TALILLEAQA ASGFLLDPVR NRRLTVNEAV KEGVVGPELH HKLLSAERAV
TGYKDPYTGQ QISLFQAMQK GLIVREHGIR LLEAQIATGG VIDPVHSHRV PVDVAYRRGY
FDEEMNRVLA DPSDDTKGFF DPNTHENLTY LQLLERCVED PETGLCLLPL TDKAAKGGEL
VYTDSEARDV FEKATVSAPF GKFQGKTVTI WEIINSEYFT AEQRRDLLRQ FRTGRITVEK
IIKIIITVVE EQEQKGRLCF EGLRSLVPAA ELLESRVIDR ELYQQLQRGE RSVRDVAEVD
TVRRALRGAN VIAGVWLEEA GQKLSIYNAL KKDLLPSDMA VALLEAQAGT GHIIDPATSA
RLTVDEAVRA GLVGPEFHEK LLSAEKAVTG YRDPYTGQSV SLFQALKKGL IPREQGLRLL
DAQLSTGGIV DPSKSHRVPL DVACARGCLD EETSRALSAP RADAKAYSDP STGEPATYGE
LQQRCRPDQL TGLSLLPLSE KAARARQEEL YSELQARETF EKTPVEVPVG GFKGRTVTVW
ELISSEYFTA EQRQELLRQF RTGKVTVEKV IKILITIVEE VETLRQERLS FSGLRAPVPA
SELLASGVLS RAQFEQLKDG KTTVKDLSEL GSVRTLLQGS GCLAGIYLED TKEKVSIYEA
MRRGLLRATT AALLLEAQAA TGFLVDPVRN QRLYVHEAVK AGVVGPELHE QLLSAEKAVT
GYRDPYSGST ISLFQAMQKG LVLRQHGIRL LEAQIATGGI IDPVHSHRVP VDVAYQRGYF
SEEMNRVLAD PSDDTKGFFD PNTHENLTYR QLLERCVEDP ETGLRLLPLK GAEKAEVVET
TQVYTEEETR RAFEETQIDI PGGGSHGGST MSLWEVMQSD LIPEEQRAQL MADFQAGRVT
KERMIIIIIE IIEKTEIIRQ QGLASYDYVR RRLTAEDLFE ARIISLETYN LLREGTRSLR
EALEAESAWC YLYGTGSVAG VYLPGSRQTL SIYQALKKGL LSAEVARLLL EAQAATGFLL
DPVKGERLTV DEAVRKGLVG PELHDRLLSA ERAVTGYRDP YTEQTISLFQ AMKKELIPTE
EALRLLDAQL ATGGIVDPRL GFHLPLEVAY QRGYLNKDTH DQLSEPSEVR SYVDPSTDER
LSYTQLLRRC RRDDGTGQLL LPLSDARKLT FRGLRKQITM EELVRSQVMD EATALQLREG
LTSIEEVTKN LQKFLEGTSC IAGVFVDATK ERLSVYQAMK KGIIRPGTAF ELLEAQAATG
YVIDPIKGLK LTVEEAVRMG IVGPEFKDKL LSAERAVTGY KDPYSGKLIS LFQAMKKGLI
LKDHGIRLLE AQIATGGIID PEESHRLPVE VAYKRGLFDE EMNEILTDPS DDTKGFFDPN
TEENLTYLQL MERCITDPQT GLCLLPLKEK KRERKTSSKS SVRKRRVVIV DPETGKEMSV
YEAYRKGLID HQTYLELSEQ ECEWEEITIS SSDGVVKSMI IDRRSGRQYD IDDAIAKNLI
DRSALDQYRA GTLSITEFAD MLSGNAGGFR SRSSSVGSSS SYPISPAVSR TQLASWSDPT
EETGPVAGIL DTETLEKVSI TEAMHRNLVD NITGQRLLEA QACTGGIIDP STGERFPVTD
AVNKGLVDKI MVDRINLAQK AFCGFEDPRT KTKMSAAQAL KKGWLYYEAG QRFLEVQYLT
GGLIEPDTPG RVPLDEALQR GTVDARTAQK LRDVGAYSKY LTCPKTKLKI SYKDALDRSM
VEEGTGLRLL EAAAQSTKGY YSPYSVSGSG STAGSRTGSR TGSRAGSRRG SFDATGSGFS
MTFSSSSYSS SGYGRRYASG SSASLGGPES AVA*
mutated AA sequence MAGPLPDEQD FIQAYEEVRE KYKDERDRVQ KKTFTKWVNK HLIKAQRHIS DLYEDLRDGH
NLISLLEVLS GDSLPREKGR MRFHKLQNVQ IALDYLRHRQ VKLVNIRNDD IADGNPKLTL
GLIWTIILHF QISDIQVSGQ SEDMTAKEKL LLWSQRMVEG YQGLRCDNFT SSWRDGRLFN
AIIHRHKPLL IDMNKVYRQT NLENLDQAFS VAERDLGVTR LLDPEDVDVP QPDEKSIITY
VSSLYDAMPR VPDVQDGVRA NELQLRWQEY RELVLLLLQW MRHHTAAFEE RRFPSSFEEI
EILWSQFLKF KEMELPAKEA DKNRSKGIYQ SLEGAVQAGQ LKVPPGYHPL DVEKEWGKLH
VAILEREKQL RSEFERLECL QRIVTKLQME AGLCEEQLNQ ADALLQSDVR LLAAGKVPQR
AGEVERDLDK ADSMIRLLFN DVQTLKDGRH PQGEQMYRRV YRLHERLVAI RTEYNLRLKA
GVAAPATQVA QVTLQSVQRR PELEDSTLRY LQDLLAWVEE NQHRVDGAEW GVDLPSVEAQ
LGSHRGLHQS IEEFRAKIER ARSDEGQLSP ATRGAYRDCL GRLDLQYAKL LNSSKARLRS
LESLHSFVAA ATKELMWLNE KEEEEVGFDW SDRNTNMTAK KESYSALMRE LELKEKKIKE
LQNAGDRLLR EDHPARPTVE SFQAALQTQW SWMLQLCCCI EAHLKENAAY FQFFSDVREA
EGQLQKLQEA LRRKYSCDRS ATVTRLEDLL QDAQDEKEQL NEYKGHLSGL AKRAKAVVQL
KPRHPAHPMR GRLPLLAVCD YKQVEVTVHK GDECQLVGPA QPSHWKVLSS SGSEAAVPSV
CFLVPPPNQE AQEAVTRLEA QHQALVTLWH QLHVDMKSLL AWQSLRRDVQ LIRSWSLATF
RTLKPEEQRQ ALHSLELHYQ AFLRDSQDAG GFGPEDRLMA EREYGSCSHH YQQLLQSLEQ
GAQEESRCQR CISELKDIRL QLEACETRTV HRLRLPLDKE PARECAQRIA EQQKAQAEVE
GLGKGVARLS AEAEKVLALP EPSPAAPTLR SELELTLGKL EQVRSLSAIY LEKLKTISLV
IRGTQGAEEV LRAHEEQLKE AQAVPATLPE LEATKASLKK LRAQAEAQQP TFDALRDELR
GAQEVGERLQ QRHGERDVEV ERWRERVAQL LERWQAVLAQ TDVRQRELEQ LGRQLRYYRE
SADPLGAWLQ DARRRQEQIQ AMPLADSQAV REQLRQEQAL LEEIERHGEK VEECQRFAKQ
YINAIKDYEL QLVTYKAQLE PVASPAKKPK VQSGSESVIQ EYVDLRTRYS ELTTLTSQYI
KFISETLRRM EEEERLAEQQ RAEERERLAE VEAALEKQRQ LAEAHAQAKA QAEREAKELQ
QRMQEEVVRR EEAAVDAQQQ KRSIQEELQQ LRQSSEAEIQ AKARQAEAAE RSRLRIEEEI
RVVRLQLEAT ERQRGGAEGE LQALRARAEE AEAQKRQAQE EAERLRRQVQ DESQRKRQAE
VELASRVKAE AEAAREKQRA LQALEELRLQ AEEAERRLRQ AEVERARQVQ VALETAQRSA
EAELQSKRAS FAEKTAQLER SLQEEHVAVA QLREEAERRA QQQAEAERAR EEAERELERW
QLKANEALRL RLQAEEVAQQ KSLAQAEAEK QKEEAEREAR RRGKAEEQAV RQRELAEQEL
EKQRQLAEGT AQQRLAAEQE LIRLRAETEQ GEQQRQLLEE ELARLQREAA AATQKRQELE
AELAKVRAEM EVLLASKARA EEESRSTSEK SKQRLEAEAG RFRELAEEAA RLRALAEEAK
RQRQLAEEDA ARQRAEAERV LAEKLAAIGE ATRLKTEAEI ALKEKEAENE RLRRLAEDEA
FQRRRLEEQA AQHKADIEER LAQLRKASDS ELERQKGLVE DTLRQRRQVE EEILALKASF
EKAAAGKAEL ELELGRIRSN AEDTLRSKEQ AELEAARQRQ LAAEEERRRR EAEERVQKSL
AAEEEAARQR KAALEEVERL KAKVEEARRL RERAEQESAR QLQLAQEAAQ KRLQAEEKAH
AFAVQQKEQE LQQTLQQEQS VLDQLRGEAE AARRAAEEAE EARVQAEREA AQSRRQVEEA
ERLKQSAEEQ AQARAQAQAA AEKLRKEAEQ EAARRAQAEQ AALRQKQAAD AEMEKHKKFA
EQTLRQKAQV EQELTTLRLQ LEETDHQKNL LDEELQRLKA EATEAARQRS QVEEELFSVR
VQMEELSKLK ARIEAENRAL ILRDKDNTQR FLQEEAEKMK QVAEEAARLS VAAQEAARLR
QLAEEDLAQQ RALAEKMLKE KMQAVQEATR LKAEAELLQQ QKELAQEQAR RLQEDKEQMA
QQLAEETQGF QRTLEAERQR QLEMSAEAER LKLRVAEMSR AQARAEEDAQ RFRKQAEEIG
EKLHRTELAT QEKVTLVQTL EIQRQQSDHD AERLREAIAE LEREKEKLQQ EAKLLQLKSE
EMQTVQQEQL LQETQALQQS FLSEKDSLLQ RERFIEQEKA KLEQLFQDEV AKAQQLREEQ
QRQQQQMEQE RQRLVASMEE ARRRQHEAEE GVRRKQEELQ QLEQQRRQQE ELLAEENQRL
REQLQLLEEQ HRAALAHSEE VTASQVAATK TLPNGRDALD GPAAEAEPEH SFDGLRRKVS
AQRLQEAGIL SAEELQRLAQ GHTTVDELAR REDVRHYLQG RSSIAGLLLK ATNEKLSVYA
ALQRQLLSPG TALILLEAQA ASGFLLDPVR NRRLTVNEAV KEGVVGPELH HKLLSAERAV
TGYKDPYTGQ QISLFQAMQK GLIVREHGIR LLEAQIATGG VIDPVHSHRV PVDVAYRRGY
FDEEMNRVLA DPSDDTKGFF DPNTHENLTY LQLLERCVED PETGLCLLPL TDKAAKGGEL
VYTDSEARDV FEKATVSAPF GKFQGKTVTI WEIINSEYFT AEQRRDLLRQ FRTGRITVEK
IIKIIITVVE EQEQKGRLCF EGLRSLVPAA ELLESRVIDR ELYQQLQRGE RSVRDVAEVD
TVRRALRGAN VIAGVWLEEA GQKLSIYNAL KKDLLPSDMA VALLEAQAGT GHIIDPATSA
RLTVDEAVRA GLVGPEFHEK LLSAEKAVTG YRDPYTGQSV SLFQALKKGL IPREQGLRLL
DAQLSTGGIV DPSKSHRVPL DVACARGCLD EETSRALSAP RADAKAYSDP STGEPATYGE
LQQRCRPDQL TGLSLLPLSE KAARARQEEL YSELQARETF EKTPVEVPVG GFKGRTVTVW
ELISSEYFTA EQRQELLRQF RTGKVTVEKV IKILITIVEE VETLRQERLS FSGLRAPVPA
SELLASGVLS RAQFEQLKDG KTTVKDLSEL GSVRTLLQGS GCLAGIYLED TKEKVSIYEA
MRRGLLRATT AALLLEAQAA TGFLVDPVRN QRLYVHEAVK AGVVGPELHE QLLSAEKAVT
GYRDPYSGST ISLFQAMQKG LVLRQHGIRL LEAQIATGGI IDPVHSHRVP VDVAYQRGYF
SEEMNRVLAD PSDDTKGFFD PNTHENLTYR QLLERCVEDP ETGLRLLPLK GAEKAEVVET
TQVYTEEETR RAFEETQIDI PGGGSHGGST MSLWEVMQSD LIPEEQRAQL MADFQAGRVT
KERMIIIIIE IIEKTEIIRQ QGLASYDYVR RRLTAEDLFE ARIISLETYN LLREGTRSLR
EALEAESAWC YLYGTGSVAG VYLPGSRQTL SIYQALKKGL LSAEVARLLL EAQAATGFLL
DPVKGERLTV DEAVRKGLVG PELHDRLLSA ERAVTGYRDP YTEQTISLFQ AMKKELIPTE
EALRLLDAQL ATGGIVDPRL GFHLPLEVAY QRGYLNKDTH DQLSEPSEVR SYVDPSTDER
LSYTQLLRRC RRDDGTGQLL LPLSDARKLT FRGLRKQITM EELVRSQVMD EATALQLREG
LTSIEEVTKN LQKFLEGTSC IAGVFVDATK ERLSVYQAMK KGIIRPGTAF ELLEAQAATG
YVIDPIKGLK LTVEEAVRMG IVGPEFKDKL LSAERAVTGY KDPYSGKLIS LFQAMKKGLI
LKDHGIRLLE AQIATGGIID PEESHRLPVE VAYKRGLFDE EMNEILTDPS DDTKGFFDPN
TEENLTYLQL MERCITDPQT GLCLLPLKEK KRERKTSSKS SVRKRRVVIV DPETGKEMSV
YEAYRKGLID HQTYLELSEQ ECEWEEITIS SSDGVVKSMI IDRRSGRQYD IDDAIAKNLI
DRSALDQYRA GTLSITEFAD MLSGNAGGFR SRSSSVGSSS SYPISPAVSR TQLASWSDPT
EETGPVAGIL DTETLEKVSI TEAMHRNLVD NITGQRLLEA QACTGGIIDP STGERFPVTD
AVNKGLVDKI MVDRINLAQK AFCGFEDPRT KTKMSAAQAL KKGWLYYEAG QRFLEVQYLT
GGLIEPDTPG RVPLDEALQR GTVDARTAQK LRDVGAYSKY LTCPKTKLKI SYKDALDRSM
VEEGTGLRLL EAAAQSTKGY YSPYSVSGSG STAGSRTGSR TGSRAGSRRG SFDATGSGFS
MTFSSSSYSS SGYGRRYASG SSASLGGPES AVA*
speed 0.62 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