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 ENST00000357649
Genbank transcript ID NM_201383
UniProt peptide Q15149
alteration type single base exchange
alteration region CDS
DNA changes c.3977A>G
cDNA.3986A>G
g.49872A>G
AA changes H1326R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1326
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      1326SVIQEYVDLRTHYSELTTLTSQYI
mutated  not conserved    1326VDLRTRYSELTTLTSQY
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 13656 / 13656
position (AA) of stopcodon in wt / mu AA sequence 4552 / 4552
position of stopcodon in wt / mu cDNA 13665 / 13665
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 10 / 10
chromosome 8
strand -1
last intron/exon boundary 7447
theoretical NMD boundary in CDS 7387
length of CDS 13656
coding sequence (CDS) position 3977
cDNA position
(for ins/del: last normal base / first normal base)		 3986
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 MSGAGGAFAS PREVLLERPC WLDGGCEPAR RGYLYQQLCC VDERDRVQKK TFTKWVNKHL
IKAQRHISDL YEDLRDGHNL ISLLEVLSGD SLPREKGRMR FHKLQNVQIA LDYLRHRQVK
LVNIRNDDIA DGNPKLTLGL IWTIILHFQI SDIQVSGQSE DMTAKEKLLL WSQRMVEGYQ
GLRCDNFTSS WRDGRLFNAI IHRHKPLLID MNKVYRQTNL ENLDQAFSVA ERDLGVTRLL
DPEDVDVPQP DEKSIITYVS SLYDAMPRVP DVQDGVRANE LQLRWQEYRE LVLLLLQWMR
HHTAAFEERR FPSSFEEIEI LWSQFLKFKE MELPAKEADK NRSKGIYQSL EGAVQAGQLK
VPPGYHPLDV EKEWGKLHVA ILEREKQLRS EFERLECLQR IVTKLQMEAG LCEEQLNQAD
ALLQSDVRLL AAGKVPQRAG EVERDLDKAD SMIRLLFNDV QTLKDGRHPQ GEQMYRRVYR
LHERLVAIRT EYNLRLKAGV AAPATQVAQV TLQSVQRRPE LEDSTLRYLQ DLLAWVEENQ
HRVDGAEWGV DLPSVEAQLG SHRGLHQSIE EFRAKIERAR SDEGQLSPAT RGAYRDCLGR
LDLQYAKLLN SSKARLRSLE SLHSFVAAAT KELMWLNEKE EEEVGFDWSD RNTNMTAKKE
SYSALMRELE LKEKKIKELQ NAGDRLLRED HPARPTVESF QAALQTQWSW MLQLCCCIEA
HLKENAAYFQ FFSDVREAEG QLQKLQEALR RKYSCDRSAT VTRLEDLLQD AQDEKEQLNE
YKGHLSGLAK RAKAVVQLKP RHPAHPMRGR LPLLAVCDYK QVEVTVHKGD ECQLVGPAQP
SHWKVLSSSG SEAAVPSVCF LVPPPNQEAQ EAVTRLEAQH QALVTLWHQL HVDMKSLLAW
QSLRRDVQLI RSWSLATFRT LKPEEQRQAL HSLELHYQAF LRDSQDAGGF GPEDRLMAER
EYGSCSHHYQ QLLQSLEQGA QEESRCQRCI SELKDIRLQL EACETRTVHR LRLPLDKEPA
RECAQRIAEQ QKAQAEVEGL GKGVARLSAE AEKVLALPEP SPAAPTLRSE LELTLGKLEQ
VRSLSAIYLE KLKTISLVIR GTQGAEEVLR AHEEQLKEAQ AVPATLPELE ATKASLKKLR
AQAEAQQPTF DALRDELRGA QEVGERLQQR HGERDVEVER WRERVAQLLE RWQAVLAQTD
VRQRELEQLG RQLRYYRESA DPLGAWLQDA RRRQEQIQAM PLADSQAVRE QLRQEQALLE
EIERHGEKVE ECQRFAKQYI NAIKDYELQL VTYKAQLEPV ASPAKKPKVQ SGSESVIQEY
VDLRTHYSEL TTLTSQYIKF ISETLRRMEE EERLAEQQRA EERERLAEVE AALEKQRQLA
EAHAQAKAQA EREAKELQQR MQEEVVRREE AAVDAQQQKR SIQEELQQLR QSSEAEIQAK
ARQAEAAERS RLRIEEEIRV VRLQLEATER QRGGAEGELQ ALRARAEEAE AQKRQAQEEA
ERLRRQVQDE SQRKRQAEVE LASRVKAEAE AAREKQRALQ ALEELRLQAE EAERRLRQAE
VERARQVQVA LETAQRSAEA ELQSKRASFA EKTAQLERSL QEEHVAVAQL REEAERRAQQ
QAEAERAREE AERELERWQL KANEALRLRL QAEEVAQQKS LAQAEAEKQK EEAEREARRR
GKAEEQAVRQ RELAEQELEK QRQLAEGTAQ QRLAAEQELI RLRAETEQGE QQRQLLEEEL
ARLQREAAAA TQKRQELEAE LAKVRAEMEV LLASKARAEE ESRSTSEKSK QRLEAEAGRF
RELAEEAARL RALAEEAKRQ RQLAEEDAAR QRAEAERVLA EKLAAIGEAT RLKTEAEIAL
KEKEAENERL RRLAEDEAFQ RRRLEEQAAQ HKADIEERLA QLRKASDSEL ERQKGLVEDT
LRQRRQVEEE ILALKASFEK AAAGKAELEL ELGRIRSNAE DTLRSKEQAE LEAARQRQLA
AEEERRRREA EERVQKSLAA EEEAARQRKA ALEEVERLKA KVEEARRLRE RAEQESARQL
QLAQEAAQKR LQAEEKAHAF AVQQKEQELQ QTLQQEQSVL DQLRGEAEAA RRAAEEAEEA
RVQAEREAAQ SRRQVEEAER LKQSAEEQAQ ARAQAQAAAE KLRKEAEQEA ARRAQAEQAA
LRQKQAADAE MEKHKKFAEQ TLRQKAQVEQ ELTTLRLQLE ETDHQKNLLD EELQRLKAEA
TEAARQRSQV EEELFSVRVQ MEELSKLKAR IEAENRALIL RDKDNTQRFL QEEAEKMKQV
AEEAARLSVA AQEAARLRQL AEEDLAQQRA LAEKMLKEKM QAVQEATRLK AEAELLQQQK
ELAQEQARRL QEDKEQMAQQ LAEETQGFQR TLEAERQRQL EMSAEAERLK LRVAEMSRAQ
ARAEEDAQRF RKQAEEIGEK LHRTELATQE KVTLVQTLEI QRQQSDHDAE RLREAIAELE
REKEKLQQEA KLLQLKSEEM QTVQQEQLLQ ETQALQQSFL SEKDSLLQRE RFIEQEKAKL
EQLFQDEVAK AQQLREEQQR QQQQMEQERQ RLVASMEEAR RRQHEAEEGV RRKQEELQQL
EQQRRQQEEL LAEENQRLRE QLQLLEEQHR AALAHSEEVT ASQVAATKTL PNGRDALDGP
AAEAEPEHSF DGLRRKVSAQ RLQEAGILSA EELQRLAQGH TTVDELARRE DVRHYLQGRS
SIAGLLLKAT NEKLSVYAAL QRQLLSPGTA LILLEAQAAS GFLLDPVRNR RLTVNEAVKE
GVVGPELHHK LLSAERAVTG YKDPYTGQQI SLFQAMQKGL IVREHGIRLL EAQIATGGVI
DPVHSHRVPV DVAYRRGYFD EEMNRVLADP SDDTKGFFDP NTHENLTYLQ LLERCVEDPE
TGLCLLPLTD KAAKGGELVY TDSEARDVFE KATVSAPFGK FQGKTVTIWE IINSEYFTAE
QRRDLLRQFR TGRITVEKII KIIITVVEEQ EQKGRLCFEG LRSLVPAAEL LESRVIDREL
YQQLQRGERS VRDVAEVDTV RRALRGANVI AGVWLEEAGQ KLSIYNALKK DLLPSDMAVA
LLEAQAGTGH IIDPATSARL TVDEAVRAGL VGPEFHEKLL SAEKAVTGYR DPYTGQSVSL
FQALKKGLIP REQGLRLLDA QLSTGGIVDP SKSHRVPLDV ACARGCLDEE TSRALSAPRA
DAKAYSDPST GEPATYGELQ QRCRPDQLTG LSLLPLSEKA ARARQEELYS ELQARETFEK
TPVEVPVGGF KGRTVTVWEL ISSEYFTAEQ RQELLRQFRT GKVTVEKVIK ILITIVEEVE
TLRQERLSFS GLRAPVPASE LLASGVLSRA QFEQLKDGKT TVKDLSELGS VRTLLQGSGC
LAGIYLEDTK EKVSIYEAMR RGLLRATTAA LLLEAQAATG FLVDPVRNQR LYVHEAVKAG
VVGPELHEQL LSAEKAVTGY RDPYSGSTIS LFQAMQKGLV LRQHGIRLLE AQIATGGIID
PVHSHRVPVD VAYQRGYFSE EMNRVLADPS DDTKGFFDPN THENLTYRQL LERCVEDPET
GLRLLPLKGA EKAEVVETTQ VYTEEETRRA FEETQIDIPG GGSHGGSTMS LWEVMQSDLI
PEEQRAQLMA DFQAGRVTKE RMIIIIIEII EKTEIIRQQG LASYDYVRRR LTAEDLFEAR
IISLETYNLL REGTRSLREA LEAESAWCYL YGTGSVAGVY LPGSRQTLSI YQALKKGLLS
AEVARLLLEA QAATGFLLDP VKGERLTVDE AVRKGLVGPE LHDRLLSAER AVTGYRDPYT
EQTISLFQAM KKELIPTEEA LRLLDAQLAT GGIVDPRLGF HLPLEVAYQR GYLNKDTHDQ
LSEPSEVRSY VDPSTDERLS YTQLLRRCRR DDGTGQLLLP LSDARKLTFR GLRKQITMEE
LVRSQVMDEA TALQLREGLT SIEEVTKNLQ KFLEGTSCIA GVFVDATKER LSVYQAMKKG
IIRPGTAFEL LEAQAATGYV IDPIKGLKLT VEEAVRMGIV GPEFKDKLLS AERAVTGYKD
PYSGKLISLF QAMKKGLILK DHGIRLLEAQ IATGGIIDPE ESHRLPVEVA YKRGLFDEEM
NEILTDPSDD TKGFFDPNTE ENLTYLQLME RCITDPQTGL CLLPLKEKKR ERKTSSKSSV
RKRRVVIVDP ETGKEMSVYE AYRKGLIDHQ TYLELSEQEC EWEEITISSS DGVVKSMIID
RRSGRQYDID DAIAKNLIDR SALDQYRAGT LSITEFADML SGNAGGFRSR SSSVGSSSSY
PISPAVSRTQ LASWSDPTEE TGPVAGILDT ETLEKVSITE AMHRNLVDNI TGQRLLEAQA
CTGGIIDPST GERFPVTDAV NKGLVDKIMV DRINLAQKAF CGFEDPRTKT KMSAAQALKK
GWLYYEAGQR FLEVQYLTGG LIEPDTPGRV PLDEALQRGT VDARTAQKLR DVGAYSKYLT
CPKTKLKISY KDALDRSMVE EGTGLRLLEA AAQSTKGYYS PYSVSGSGST AGSRTGSRTG
SRAGSRRGSF DATGSGFSMT FSSSSYSSSG YGRRYASGSS ASLGGPESAV A*
mutated AA sequence MSGAGGAFAS PREVLLERPC WLDGGCEPAR RGYLYQQLCC VDERDRVQKK TFTKWVNKHL
IKAQRHISDL YEDLRDGHNL ISLLEVLSGD SLPREKGRMR FHKLQNVQIA LDYLRHRQVK
LVNIRNDDIA DGNPKLTLGL IWTIILHFQI SDIQVSGQSE DMTAKEKLLL WSQRMVEGYQ
GLRCDNFTSS WRDGRLFNAI IHRHKPLLID MNKVYRQTNL ENLDQAFSVA ERDLGVTRLL
DPEDVDVPQP DEKSIITYVS SLYDAMPRVP DVQDGVRANE LQLRWQEYRE LVLLLLQWMR
HHTAAFEERR FPSSFEEIEI LWSQFLKFKE MELPAKEADK NRSKGIYQSL EGAVQAGQLK
VPPGYHPLDV EKEWGKLHVA ILEREKQLRS EFERLECLQR IVTKLQMEAG LCEEQLNQAD
ALLQSDVRLL AAGKVPQRAG EVERDLDKAD SMIRLLFNDV QTLKDGRHPQ GEQMYRRVYR
LHERLVAIRT EYNLRLKAGV AAPATQVAQV TLQSVQRRPE LEDSTLRYLQ DLLAWVEENQ
HRVDGAEWGV DLPSVEAQLG SHRGLHQSIE EFRAKIERAR SDEGQLSPAT RGAYRDCLGR
LDLQYAKLLN SSKARLRSLE SLHSFVAAAT KELMWLNEKE EEEVGFDWSD RNTNMTAKKE
SYSALMRELE LKEKKIKELQ NAGDRLLRED HPARPTVESF QAALQTQWSW MLQLCCCIEA
HLKENAAYFQ FFSDVREAEG QLQKLQEALR RKYSCDRSAT VTRLEDLLQD AQDEKEQLNE
YKGHLSGLAK RAKAVVQLKP RHPAHPMRGR LPLLAVCDYK QVEVTVHKGD ECQLVGPAQP
SHWKVLSSSG SEAAVPSVCF LVPPPNQEAQ EAVTRLEAQH QALVTLWHQL HVDMKSLLAW
QSLRRDVQLI RSWSLATFRT LKPEEQRQAL HSLELHYQAF LRDSQDAGGF GPEDRLMAER
EYGSCSHHYQ QLLQSLEQGA QEESRCQRCI SELKDIRLQL EACETRTVHR LRLPLDKEPA
RECAQRIAEQ QKAQAEVEGL GKGVARLSAE AEKVLALPEP SPAAPTLRSE LELTLGKLEQ
VRSLSAIYLE KLKTISLVIR GTQGAEEVLR AHEEQLKEAQ AVPATLPELE ATKASLKKLR
AQAEAQQPTF DALRDELRGA QEVGERLQQR HGERDVEVER WRERVAQLLE RWQAVLAQTD
VRQRELEQLG RQLRYYRESA DPLGAWLQDA RRRQEQIQAM PLADSQAVRE QLRQEQALLE
EIERHGEKVE ECQRFAKQYI NAIKDYELQL VTYKAQLEPV ASPAKKPKVQ SGSESVIQEY
VDLRTRYSEL TTLTSQYIKF ISETLRRMEE EERLAEQQRA EERERLAEVE AALEKQRQLA
EAHAQAKAQA EREAKELQQR MQEEVVRREE AAVDAQQQKR SIQEELQQLR QSSEAEIQAK
ARQAEAAERS RLRIEEEIRV VRLQLEATER QRGGAEGELQ ALRARAEEAE AQKRQAQEEA
ERLRRQVQDE SQRKRQAEVE LASRVKAEAE AAREKQRALQ ALEELRLQAE EAERRLRQAE
VERARQVQVA LETAQRSAEA ELQSKRASFA EKTAQLERSL QEEHVAVAQL REEAERRAQQ
QAEAERAREE AERELERWQL KANEALRLRL QAEEVAQQKS LAQAEAEKQK EEAEREARRR
GKAEEQAVRQ RELAEQELEK QRQLAEGTAQ QRLAAEQELI RLRAETEQGE QQRQLLEEEL
ARLQREAAAA TQKRQELEAE LAKVRAEMEV LLASKARAEE ESRSTSEKSK QRLEAEAGRF
RELAEEAARL RALAEEAKRQ RQLAEEDAAR QRAEAERVLA EKLAAIGEAT RLKTEAEIAL
KEKEAENERL RRLAEDEAFQ RRRLEEQAAQ HKADIEERLA QLRKASDSEL ERQKGLVEDT
LRQRRQVEEE ILALKASFEK AAAGKAELEL ELGRIRSNAE DTLRSKEQAE LEAARQRQLA
AEEERRRREA EERVQKSLAA EEEAARQRKA ALEEVERLKA KVEEARRLRE RAEQESARQL
QLAQEAAQKR LQAEEKAHAF AVQQKEQELQ QTLQQEQSVL DQLRGEAEAA RRAAEEAEEA
RVQAEREAAQ SRRQVEEAER LKQSAEEQAQ ARAQAQAAAE KLRKEAEQEA ARRAQAEQAA
LRQKQAADAE MEKHKKFAEQ TLRQKAQVEQ ELTTLRLQLE ETDHQKNLLD EELQRLKAEA
TEAARQRSQV EEELFSVRVQ MEELSKLKAR IEAENRALIL RDKDNTQRFL QEEAEKMKQV
AEEAARLSVA AQEAARLRQL AEEDLAQQRA LAEKMLKEKM QAVQEATRLK AEAELLQQQK
ELAQEQARRL QEDKEQMAQQ LAEETQGFQR TLEAERQRQL EMSAEAERLK LRVAEMSRAQ
ARAEEDAQRF RKQAEEIGEK LHRTELATQE KVTLVQTLEI QRQQSDHDAE RLREAIAELE
REKEKLQQEA KLLQLKSEEM QTVQQEQLLQ ETQALQQSFL SEKDSLLQRE RFIEQEKAKL
EQLFQDEVAK AQQLREEQQR QQQQMEQERQ RLVASMEEAR RRQHEAEEGV RRKQEELQQL
EQQRRQQEEL LAEENQRLRE QLQLLEEQHR AALAHSEEVT ASQVAATKTL PNGRDALDGP
AAEAEPEHSF DGLRRKVSAQ RLQEAGILSA EELQRLAQGH TTVDELARRE DVRHYLQGRS
SIAGLLLKAT NEKLSVYAAL QRQLLSPGTA LILLEAQAAS GFLLDPVRNR RLTVNEAVKE
GVVGPELHHK LLSAERAVTG YKDPYTGQQI SLFQAMQKGL IVREHGIRLL EAQIATGGVI
DPVHSHRVPV DVAYRRGYFD EEMNRVLADP SDDTKGFFDP NTHENLTYLQ LLERCVEDPE
TGLCLLPLTD KAAKGGELVY TDSEARDVFE KATVSAPFGK FQGKTVTIWE IINSEYFTAE
QRRDLLRQFR TGRITVEKII KIIITVVEEQ EQKGRLCFEG LRSLVPAAEL LESRVIDREL
YQQLQRGERS VRDVAEVDTV RRALRGANVI AGVWLEEAGQ KLSIYNALKK DLLPSDMAVA
LLEAQAGTGH IIDPATSARL TVDEAVRAGL VGPEFHEKLL SAEKAVTGYR DPYTGQSVSL
FQALKKGLIP REQGLRLLDA QLSTGGIVDP SKSHRVPLDV ACARGCLDEE TSRALSAPRA
DAKAYSDPST GEPATYGELQ QRCRPDQLTG LSLLPLSEKA ARARQEELYS ELQARETFEK
TPVEVPVGGF KGRTVTVWEL ISSEYFTAEQ RQELLRQFRT GKVTVEKVIK ILITIVEEVE
TLRQERLSFS GLRAPVPASE LLASGVLSRA QFEQLKDGKT TVKDLSELGS VRTLLQGSGC
LAGIYLEDTK EKVSIYEAMR RGLLRATTAA LLLEAQAATG FLVDPVRNQR LYVHEAVKAG
VVGPELHEQL LSAEKAVTGY RDPYSGSTIS LFQAMQKGLV LRQHGIRLLE AQIATGGIID
PVHSHRVPVD VAYQRGYFSE EMNRVLADPS DDTKGFFDPN THENLTYRQL LERCVEDPET
GLRLLPLKGA EKAEVVETTQ VYTEEETRRA FEETQIDIPG GGSHGGSTMS LWEVMQSDLI
PEEQRAQLMA DFQAGRVTKE RMIIIIIEII EKTEIIRQQG LASYDYVRRR LTAEDLFEAR
IISLETYNLL REGTRSLREA LEAESAWCYL YGTGSVAGVY LPGSRQTLSI YQALKKGLLS
AEVARLLLEA QAATGFLLDP VKGERLTVDE AVRKGLVGPE LHDRLLSAER AVTGYRDPYT
EQTISLFQAM KKELIPTEEA LRLLDAQLAT GGIVDPRLGF HLPLEVAYQR GYLNKDTHDQ
LSEPSEVRSY VDPSTDERLS YTQLLRRCRR DDGTGQLLLP LSDARKLTFR GLRKQITMEE
LVRSQVMDEA TALQLREGLT SIEEVTKNLQ KFLEGTSCIA GVFVDATKER LSVYQAMKKG
IIRPGTAFEL LEAQAATGYV IDPIKGLKLT VEEAVRMGIV GPEFKDKLLS AERAVTGYKD
PYSGKLISLF QAMKKGLILK DHGIRLLEAQ IATGGIIDPE ESHRLPVEVA YKRGLFDEEM
NEILTDPSDD TKGFFDPNTE ENLTYLQLME RCITDPQTGL CLLPLKEKKR ERKTSSKSSV
RKRRVVIVDP ETGKEMSVYE AYRKGLIDHQ TYLELSEQEC EWEEITISSS DGVVKSMIID
RRSGRQYDID DAIAKNLIDR SALDQYRAGT LSITEFADML SGNAGGFRSR SSSVGSSSSY
PISPAVSRTQ LASWSDPTEE TGPVAGILDT ETLEKVSITE AMHRNLVDNI TGQRLLEAQA
CTGGIIDPST GERFPVTDAV NKGLVDKIMV DRINLAQKAF CGFEDPRTKT KMSAAQALKK
GWLYYEAGQR FLEVQYLTGG LIEPDTPGRV PLDEALQRGT VDARTAQKLR DVGAYSKYLT
CPKTKLKISY KDALDRSMVE EGTGLRLLEA AAQSTKGYYS PYSVSGSGST AGSRTGSRTG
SRAGSRRGSF DATGSGFSMT FSSSSYSSSG YGRRYASGSS ASLGGPESAV A*
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