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 ENST00000527096
Genbank transcript ID N/A
UniProt peptide Q15149
alteration type single base exchange
alteration region CDS
DNA changes c.4034A>G
cDNA.4034A>G
g.49872A>G
AA changes H1345R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1345
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      1345SVIQEYVDLRTHYSELTTLTSQYI
mutated  not conserved    1345SVIQEYVDLRTRYSELTTLTSQY
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 13713 / 13713
position (AA) of stopcodon in wt / mu AA sequence 4571 / 4571
position of stopcodon in wt / mu cDNA 13713 / 13713
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 1 / 1
chromosome 8
strand -1
last intron/exon boundary 7495
theoretical NMD boundary in CDS 7444
length of CDS 13713
coding sequence (CDS) position 4034
cDNA position
(for ins/del: last normal base / first normal base)		 4034
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 MSGEDAEVRA VSEDVSNGSS GSPSPGDTLP WNLGKTQRSR RSGGGAGSNG SVLDPAERAV
IRIADERDRV QKKTFTKWVN KHLIKAQRHI SDLYEDLRDG HNLISLLEVL SGDSLPREKG
RMRFHKLQNV QIALDYLRHR QVKLVNIRND DIADGNPKLT LGLIWTIILH FQISDIQVSG
QSEDMTAKEK LLLWSQRMVE GYQGLRCDNF TSSWRDGRLF NAIIHRHKPL LIDMNKVYRQ
TNLENLDQAF SVAERDLGVT RLLDPEDVDV PQPDEKSIIT YVSSLYDAMP RVPDVQDGEL
QLRWQEYREL VLLLLQWMRH HTAAFEERRF PSSFEEIEIL WSQFLKFKEM ELPAKEADKN
RSKGIYQSLE GAVQAGQLKV PPGYHPLDVE KEWGKLHVAI LEREKQLRSE FERLECLQRI
VTKLQMEAGL CEEQLNQADA LLQSDVRLLA AGKVPQRAGE VERDLDKADS MIRLLFNDVQ
TLKDGRHPQG EQMYRRVYRL HERLVAIRTE YNLRLKAGVA APATQVAQVT LQSVQRRPEL
EDSTLRYLQD LLAWVEENQH RVDGAEWGVD LPSVEAQLGS HRGLHQSIEE FRAKIERARS
DEGQLSPATR GAYRDCLGRL DLQYAKLLNS SKARLRSLES LHSFVAAATK ELMWLNEKEE
EEVGFDWSDR NTNMTAKKES YSALMRELEL KEKKIKELQN AGDRLLREDH PARPTVESFQ
AALQTQWSWM LQLCCCIEAH LKENAAYFQF FSDVREAEGQ LQKLQEALRR KYSCDRSATV
TRLEDLLQDA QDEKEQLNEY KGHLSGLAKR AKAVVQLKPR HPAHPMRGRL PLLAVCDYKQ
VEVTVHKGDE CQLVGPAQPS HWKVLSSSGS EAAVPSVCFL VPPPNQEAQE AVTRLEAQHQ
ALVTLWHQLH VDMKSLLAWQ SLRRDVQLIR SWSLATFRTL KPEEQRQALH SLELHYQAFL
RDSQDAGGFG PEDRLMAERE YGSCSHHYQQ LLQSLEQGAQ EESRCQRCIS ELKDIRLQLE
ACETRTVHRL RLPLDKEPAR ECAQRIAEQQ KAQAEVEGLG KGVARLSAEA EKVLALPEPS
PAAPTLRSEL ELTLGKLEQV RSLSAIYLEK LKTISLVIRG TQGAEEVLRA HEEQLKEAQA
VPATLPELEA TKASLKKLRA QAEAQQPTFD ALRDELRGAQ EVGERLQQRH GERDVEVERW
RERVAQLLER WQAVLAQTDV RQRELEQLGR QLRYYRESAD PLGAWLQDAR RRQEQIQAMP
LADSQAVREQ LRQEQALLEE IERHGEKVEE CQRFAKQYIN AIKDYELQLV TYKAQLEPVA
SPAKKPKVQS GSESVIQEYV DLRTHYSELT TLTSQYIKFI SETLRRMEEE ERLAEQQRAE
ERERLAEVEA ALEKQRQLAE AHAQAKAQAE REAKELQQRM QEEVVRREEA AVDAQQQKRS
IQEELQQLRQ SSEAEIQAKA RQAEAAERSR LRIEEEIRVV RLQLEATERQ RGGAEGELQA
LRARAEEAEA QKRQAQEEAE RLRRQVQDES QRKRQAEVEL ASRVKAEAEA AREKQRALQA
LEELRLQAEE AERRLRQAEV ERARQVQVAL ETAQRSAEAE LQSKRASFAE KTAQLERSLQ
EEHVAVAQLR EEAERRAQQQ AEAERAREEA ERELERWQLK ANEALRLRLQ AEEVAQQKSL
AQAEAEKQKE EAEREARRRG KAEEQAVRQR ELAEQELEKQ RQLAEGTAQQ RLAAEQELIR
LRAETEQGEQ QRQLLEEELA RLQREAAAAT QKRQELEAEL AKVRAEMEVL LASKARAEEE
SRSTSEKSKQ RLEAEAGRFR ELAEEAARLR ALAEEAKRQR QLAEEDAARQ RAEAERVLAE
KLAAIGEATR LKTEAEIALK EKEAENERLR RLAEDEAFQR RRLEEQAAQH KADIEERLAQ
LRKASDSELE RQKGLVEDTL RQRRQVEEEI LALKASFEKA AAGKAELELE LGRIRSNAED
TLRSKEQAEL EAARQRQLAA EEERRRREAE ERVQKSLAAE EEAARQRKAA LEEVERLKAK
VEEARRLRER AEQESARQLQ LAQEAAQKRL QAEEKAHAFA VQQKEQELQQ TLQQEQSVLD
QLRGEAEAAR RAAEEAEEAR VQAEREAAQS RRQVEEAERL KQSAEEQAQA RAQAQAAAEK
LRKEAEQEAA RRAQAEQAAL RQKQAADAEM EKHKKFAEQT LRQKAQVEQE LTTLRLQLEE
TDHQKNLLDE ELQRLKAEAT EAARQRSQVE EELFSVRVQM EELSKLKARI EAENRALILR
DKDNTQRFLQ EEAEKMKQVA EEAARLSVAA QEAARLRQLA EEDLAQQRAL AEKMLKEKMQ
AVQEATRLKA EAELLQQQKE LAQEQARRLQ EDKEQMAQQL AEETQGFQRT LEAERQRQLE
MSAEAERLKL RVAEMSRAQA RAEEDAQRFR KQAEEIGEKL HRTELATQEK VTLVQTLEIQ
RQQSDHDAER LREAIAELER EKEKLQQEAK LLQLKSEEMQ TVQQEQLLQE TQALQQSFLS
EKDSLLQRER FIEQEKAKLE QLFQDEVAKA QQLREEQQRQ QQQMEQERQR LVASMEEARR
RQHEAEEGVR RKQEELQQLE QQRRQQEELL AEENQRLREQ LQLLEEQHRA ALAHSEEVTA
SQVAATKTLP NGRDALDGPA AEAEPEHSFD GLRRKVSAQR LQEAGILSAE ELQRLAQGHT
TVDELARRED VRHYLQGRSS IAGLLLKATN EKLSVYAALQ RQLLSPGTAL ILLEAQAASG
FLLDPVRNRR LTVNEAVKEG VVGPELHHKL LSAERAVTGY KDPYTGQQIS LFQAMQKGLI
VREHGIRLLE AQIATGGVID PVHSHRVPVD VAYRRGYFDE EMNRVLADPS DDTKGFFDPN
THENLTYLQL LERCVEDPET GLCLLPLTDK AAKGGELVYT DSEARDVFEK ATVSAPFGKF
QGKTVTIWEI INSEYFTAEQ RRDLLRQFRT GRITVEKIIK IIITVVEEQE QKGRLCFEGL
RSLVPAAELL ESRVIDRELY QQLQRGERSV RDVAEVDTVR RALRGANVIA GVWLEEAGQK
LSIYNALKKD LLPSDMAVAL LEAQAGTGHI IDPATSARLT VDEAVRAGLV GPEFHEKLLS
AEKAVTGYRD PYTGQSVSLF QALKKGLIPR EQGLRLLDAQ LSTGGIVDPS KSHRVPLDVA
CARGCLDEET SRALSAPRAD AKAYSDPSTG EPATYGELQQ RCRPDQLTGL SLLPLSEKAA
RARQEELYSE LQARETFEKT PVEVPVGGFK GRTVTVWELI SSEYFTAEQR QELLRQFRTG
KVTVEKVIKI LITIVEEVET LRQERLSFSG LRAPVPASEL LASGVLSRAQ FEQLKDGKTT
VKDLSELGSV RTLLQGSGCL AGIYLEDTKE KVSIYEAMRR GLLRATTAAL LLEAQAATGF
LVDPVRNQRL YVHEAVKAGV VGPELHEQLL SAEKAVTGYR DPYSGSTISL FQAMQKGLVL
RQHGIRLLEA QIATGGIIDP VHSHRVPVDV AYQRGYFSEE MNRVLADPSD DTKGFFDPNT
HENLTYRQLL ERCVEDPETG LRLLPLKGAE KAEVVETTQV YTEEETRRAF EETQIDIPGG
GSHGGSTMSL WEVMQSDLIP EEQRAQLMAD FQAGRVTKER MIIIIIEIIE KTEIIRQQGL
ASYDYVRRRL TAEDLFEARI ISLETYNLLR EGTRSLREAL EAESAWCYLY GTGSVAGVYL
PGSRQTLSIY QALKKGLLSA EVARLLLEAQ AATGFLLDPV KGERLTVDEA VRKGLVGPEL
HDRLLSAERA VTGYRDPYTE QTISLFQAMK KELIPTEEAL RLLDAQLATG GIVDPRLGFH
LPLEVAYQRG YLNKDTHDQL SEPSEVRSYV DPSTDERLSY TQLLRRCRRD DGTGQLLLPL
SDARKLTFRG LRKQITMEEL VRSQVMDEAT ALQLREGLTS IEEVTKNLQK FLEGTSCIAG
VFVDATKERL SVYQAMKKGI IRPGTAFELL EAQAATGYVI DPIKGLKLTV EEAVRMGIVG
PEFKDKLLSA ERAVTGYKDP YSGKLISLFQ AMKKGLILKD HGIRLLEAQI ATGGIIDPEE
SHRLPVEVAY KRGLFDEEMN EILTDPSDDT KGFFDPNTEE NLTYLQLMER CITDPQTGLC
LLPLKEKKRE RKTSSKSSVR KRRVVIVDPE TGKEMSVYEA YRKGLIDHQT YLELSEQECE
WEEITISSSD GVVKSMIIDR RSGRQYDIDD AIAKNLIDRS ALDQYRAGTL SITEFADMLS
GNAGGFRSRS SSVGSSSSYP ISPAVSRTQL ASWSDPTEET GPVAGILDTE TLEKVSITEA
MHRNLVDNIT GQRLLEAQAC TGGIIDPSTG ERFPVTDAVN KGLVDKIMVD RINLAQKAFC
GFEDPRTKTK MSAAQALKKG WLYYEAGQRF LEVQYLTGGL IEPDTPGRVP LDEALQRGTV
DARTAQKLRD VGAYSKYLTC PKTKLKISYK DALDRSMVEE GTGLRLLEAA AQSTKGYYSP
YSVSGSGSTA GSRTGSRTGS RAGSRRGSFD ATGSGFSMTF SSSSYSSSGY GRRYASGSSA
SLGGPESAVA *
mutated AA sequence MSGEDAEVRA VSEDVSNGSS GSPSPGDTLP WNLGKTQRSR RSGGGAGSNG SVLDPAERAV
IRIADERDRV QKKTFTKWVN KHLIKAQRHI SDLYEDLRDG HNLISLLEVL SGDSLPREKG
RMRFHKLQNV QIALDYLRHR QVKLVNIRND DIADGNPKLT LGLIWTIILH FQISDIQVSG
QSEDMTAKEK LLLWSQRMVE GYQGLRCDNF TSSWRDGRLF NAIIHRHKPL LIDMNKVYRQ
TNLENLDQAF SVAERDLGVT RLLDPEDVDV PQPDEKSIIT YVSSLYDAMP RVPDVQDGEL
QLRWQEYREL VLLLLQWMRH HTAAFEERRF PSSFEEIEIL WSQFLKFKEM ELPAKEADKN
RSKGIYQSLE GAVQAGQLKV PPGYHPLDVE KEWGKLHVAI LEREKQLRSE FERLECLQRI
VTKLQMEAGL CEEQLNQADA LLQSDVRLLA AGKVPQRAGE VERDLDKADS MIRLLFNDVQ
TLKDGRHPQG EQMYRRVYRL HERLVAIRTE YNLRLKAGVA APATQVAQVT LQSVQRRPEL
EDSTLRYLQD LLAWVEENQH RVDGAEWGVD LPSVEAQLGS HRGLHQSIEE FRAKIERARS
DEGQLSPATR GAYRDCLGRL DLQYAKLLNS SKARLRSLES LHSFVAAATK ELMWLNEKEE
EEVGFDWSDR NTNMTAKKES YSALMRELEL KEKKIKELQN AGDRLLREDH PARPTVESFQ
AALQTQWSWM LQLCCCIEAH LKENAAYFQF FSDVREAEGQ LQKLQEALRR KYSCDRSATV
TRLEDLLQDA QDEKEQLNEY KGHLSGLAKR AKAVVQLKPR HPAHPMRGRL PLLAVCDYKQ
VEVTVHKGDE CQLVGPAQPS HWKVLSSSGS EAAVPSVCFL VPPPNQEAQE AVTRLEAQHQ
ALVTLWHQLH VDMKSLLAWQ SLRRDVQLIR SWSLATFRTL KPEEQRQALH SLELHYQAFL
RDSQDAGGFG PEDRLMAERE YGSCSHHYQQ LLQSLEQGAQ EESRCQRCIS ELKDIRLQLE
ACETRTVHRL RLPLDKEPAR ECAQRIAEQQ KAQAEVEGLG KGVARLSAEA EKVLALPEPS
PAAPTLRSEL ELTLGKLEQV RSLSAIYLEK LKTISLVIRG TQGAEEVLRA HEEQLKEAQA
VPATLPELEA TKASLKKLRA QAEAQQPTFD ALRDELRGAQ EVGERLQQRH GERDVEVERW
RERVAQLLER WQAVLAQTDV RQRELEQLGR QLRYYRESAD PLGAWLQDAR RRQEQIQAMP
LADSQAVREQ LRQEQALLEE IERHGEKVEE CQRFAKQYIN AIKDYELQLV TYKAQLEPVA
SPAKKPKVQS GSESVIQEYV DLRTRYSELT TLTSQYIKFI SETLRRMEEE ERLAEQQRAE
ERERLAEVEA ALEKQRQLAE AHAQAKAQAE REAKELQQRM QEEVVRREEA AVDAQQQKRS
IQEELQQLRQ SSEAEIQAKA RQAEAAERSR LRIEEEIRVV RLQLEATERQ RGGAEGELQA
LRARAEEAEA QKRQAQEEAE RLRRQVQDES QRKRQAEVEL ASRVKAEAEA AREKQRALQA
LEELRLQAEE AERRLRQAEV ERARQVQVAL ETAQRSAEAE LQSKRASFAE KTAQLERSLQ
EEHVAVAQLR EEAERRAQQQ AEAERAREEA ERELERWQLK ANEALRLRLQ AEEVAQQKSL
AQAEAEKQKE EAEREARRRG KAEEQAVRQR ELAEQELEKQ RQLAEGTAQQ RLAAEQELIR
LRAETEQGEQ QRQLLEEELA RLQREAAAAT QKRQELEAEL AKVRAEMEVL LASKARAEEE
SRSTSEKSKQ RLEAEAGRFR ELAEEAARLR ALAEEAKRQR QLAEEDAARQ RAEAERVLAE
KLAAIGEATR LKTEAEIALK EKEAENERLR RLAEDEAFQR RRLEEQAAQH KADIEERLAQ
LRKASDSELE RQKGLVEDTL RQRRQVEEEI LALKASFEKA AAGKAELELE LGRIRSNAED
TLRSKEQAEL EAARQRQLAA EEERRRREAE ERVQKSLAAE EEAARQRKAA LEEVERLKAK
VEEARRLRER AEQESARQLQ LAQEAAQKRL QAEEKAHAFA VQQKEQELQQ TLQQEQSVLD
QLRGEAEAAR RAAEEAEEAR VQAEREAAQS RRQVEEAERL KQSAEEQAQA RAQAQAAAEK
LRKEAEQEAA RRAQAEQAAL RQKQAADAEM EKHKKFAEQT LRQKAQVEQE LTTLRLQLEE
TDHQKNLLDE ELQRLKAEAT EAARQRSQVE EELFSVRVQM EELSKLKARI EAENRALILR
DKDNTQRFLQ EEAEKMKQVA EEAARLSVAA QEAARLRQLA EEDLAQQRAL AEKMLKEKMQ
AVQEATRLKA EAELLQQQKE LAQEQARRLQ EDKEQMAQQL AEETQGFQRT LEAERQRQLE
MSAEAERLKL RVAEMSRAQA RAEEDAQRFR KQAEEIGEKL HRTELATQEK VTLVQTLEIQ
RQQSDHDAER LREAIAELER EKEKLQQEAK LLQLKSEEMQ TVQQEQLLQE TQALQQSFLS
EKDSLLQRER FIEQEKAKLE QLFQDEVAKA QQLREEQQRQ QQQMEQERQR LVASMEEARR
RQHEAEEGVR RKQEELQQLE QQRRQQEELL AEENQRLREQ LQLLEEQHRA ALAHSEEVTA
SQVAATKTLP NGRDALDGPA AEAEPEHSFD GLRRKVSAQR LQEAGILSAE ELQRLAQGHT
TVDELARRED VRHYLQGRSS IAGLLLKATN EKLSVYAALQ RQLLSPGTAL ILLEAQAASG
FLLDPVRNRR LTVNEAVKEG VVGPELHHKL LSAERAVTGY KDPYTGQQIS LFQAMQKGLI
VREHGIRLLE AQIATGGVID PVHSHRVPVD VAYRRGYFDE EMNRVLADPS DDTKGFFDPN
THENLTYLQL LERCVEDPET GLCLLPLTDK AAKGGELVYT DSEARDVFEK ATVSAPFGKF
QGKTVTIWEI INSEYFTAEQ RRDLLRQFRT GRITVEKIIK IIITVVEEQE QKGRLCFEGL
RSLVPAAELL ESRVIDRELY QQLQRGERSV RDVAEVDTVR RALRGANVIA GVWLEEAGQK
LSIYNALKKD LLPSDMAVAL LEAQAGTGHI IDPATSARLT VDEAVRAGLV GPEFHEKLLS
AEKAVTGYRD PYTGQSVSLF QALKKGLIPR EQGLRLLDAQ LSTGGIVDPS KSHRVPLDVA
CARGCLDEET SRALSAPRAD AKAYSDPSTG EPATYGELQQ RCRPDQLTGL SLLPLSEKAA
RARQEELYSE LQARETFEKT PVEVPVGGFK GRTVTVWELI SSEYFTAEQR QELLRQFRTG
KVTVEKVIKI LITIVEEVET LRQERLSFSG LRAPVPASEL LASGVLSRAQ FEQLKDGKTT
VKDLSELGSV RTLLQGSGCL AGIYLEDTKE KVSIYEAMRR GLLRATTAAL LLEAQAATGF
LVDPVRNQRL YVHEAVKAGV VGPELHEQLL SAEKAVTGYR DPYSGSTISL FQAMQKGLVL
RQHGIRLLEA QIATGGIIDP VHSHRVPVDV AYQRGYFSEE MNRVLADPSD DTKGFFDPNT
HENLTYRQLL ERCVEDPETG LRLLPLKGAE KAEVVETTQV YTEEETRRAF EETQIDIPGG
GSHGGSTMSL WEVMQSDLIP EEQRAQLMAD FQAGRVTKER MIIIIIEIIE KTEIIRQQGL
ASYDYVRRRL TAEDLFEARI ISLETYNLLR EGTRSLREAL EAESAWCYLY GTGSVAGVYL
PGSRQTLSIY QALKKGLLSA EVARLLLEAQ AATGFLLDPV KGERLTVDEA VRKGLVGPEL
HDRLLSAERA VTGYRDPYTE QTISLFQAMK KELIPTEEAL RLLDAQLATG GIVDPRLGFH
LPLEVAYQRG YLNKDTHDQL SEPSEVRSYV DPSTDERLSY TQLLRRCRRD DGTGQLLLPL
SDARKLTFRG LRKQITMEEL VRSQVMDEAT ALQLREGLTS IEEVTKNLQK FLEGTSCIAG
VFVDATKERL SVYQAMKKGI IRPGTAFELL EAQAATGYVI DPIKGLKLTV EEAVRMGIVG
PEFKDKLLSA ERAVTGYKDP YSGKLISLFQ AMKKGLILKD HGIRLLEAQI ATGGIIDPEE
SHRLPVEVAY KRGLFDEEMN EILTDPSDDT KGFFDPNTEE NLTYLQLMER CITDPQTGLC
LLPLKEKKRE RKTSSKSSVR KRRVVIVDPE TGKEMSVYEA YRKGLIDHQT YLELSEQECE
WEEITISSSD GVVKSMIIDR RSGRQYDIDD AIAKNLIDRS ALDQYRAGTL SITEFADMLS
GNAGGFRSRS SSVGSSSSYP ISPAVSRTQL ASWSDPTEET GPVAGILDTE TLEKVSITEA
MHRNLVDNIT GQRLLEAQAC TGGIIDPSTG ERFPVTDAVN KGLVDKIMVD RINLAQKAFC
GFEDPRTKTK MSAAQALKKG WLYYEAGQRF LEVQYLTGGL IEPDTPGRVP LDEALQRGTV
DARTAQKLRD VGAYSKYLTC PKTKLKISYK DALDRSMVEE GTGLRLLEAA AQSTKGYYSP
YSVSGSGSTA GSRTGSRTGS RAGSRRGSFD ATGSGFSMTF SSSSYSSSGY GRRYASGSSA
SLGGPESAVA *
speed 0.76 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