Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999998543854 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM091949)
  • known disease mutation: rs6506 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:102995926C>TN/A show variant in all transcripts   IGV
HGNC symbol DYNC2H1
Ensembl transcript ID ENST00000375735
Genbank transcript ID NM_001377
UniProt peptide Q8NCM8
alteration type single base exchange
alteration region CDS
DNA changes c.1759C>T
cDNA.1903C>T
g.15767C>T
AA changes R587C Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 587
frameshift no
known variant Reference ID: rs137853030
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs6506 (pathogenic for Short-rib thoracic dysplasia 3 with or without polydactyly|Short-rib polydactyly syndrome type III) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM091949)

known disease mutation at this position, please check HGMD for details (HGMD ID CM091949)
known disease mutation at this position, please check HGMD for details (HGMD ID CM091949)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.8110.767
3.6761
(flanking)5.6851
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 increased15760wt: 0.4727 / mu: 0.4781 (marginal change - not scored)wt: CGTTTGGTGATTCTTCTGAGAGAAGTTCGTCAGCTCTCTGC
mu: CGTTTGGTGATTCTTCTGAGAGAAGTTTGTCAGCTCTCTGC		 gaga|GAAG
Acc increased15757wt: 0.23 / mu: 0.33wt: GATCGTTTGGTGATTCTTCTGAGAGAAGTTCGTCAGCTCTC
mu: GATCGTTTGGTGATTCTTCTGAGAGAAGTTTGTCAGCTCTC		 tctg|AGAG
Donor marginally increased15758wt: 0.9987 / mu: 0.9988 (marginal change - not scored)wt: TTCTGAGAGAAGTTC
mu: TTCTGAGAGAAGTTT		 CTGA|gaga
distance from splice site 98
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      587SDRLVILLREVRQLSALGFVIPAK
mutated  not conserved    587SDRLVILLREVCQLSALGFVIPA
Ptroglodytes  all identical  ENSPTRG00000004224  587SDRLVILLREVRQLSALGFVIPA
Mmulatta  no alignment  ENSMMUG00000018308  n/a
Fcatus  no alignment  ENSFCAG00000000121  n/a
Mmusculus  all identical  ENSMUSG00000047193  587SDRLVILLREVRQLSALGFVIPA
Ggallus  all identical  ENSGALG00000017180  585SDRLVTLLREVRQLSALGFVIPA
Trubripes  all identical  ENSTRUG00000004354  585SDRLGSLVREVRQLTALGFTV
Drerio  no alignment  ENSDARG00000090725  n/a
Dmelanogaster  all identical  FBgn0023096  555NPKLVTFCQDVREFENL
Celegans  all identical  F18C12.1  547SDRLLRLLKEVRQLISLGFN
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
11650REGIONStem (By similarity).lost
594594CONFLICTF -> L (in Ref. 1; BAE17138).might get lost (downstream of altered splice site)
10741103COILEDPotential.might get lost (downstream of altered splice site)
11201120CONFLICTI -> N (in Ref. 4; AAB09728).might get lost (downstream of altered splice site)
11681168CONFLICTD -> V (in Ref. 4; AAB09728).might get lost (downstream of altered splice site)
16511875REGIONAAA 1 (By similarity).might get lost (downstream of altered splice site)
16891696NP_BINDATP (Potential).might get lost (downstream of altered splice site)
17841784CONFLICTN -> H (in Ref. 6; CAB06054).might get lost (downstream of altered splice site)
18641864CONFLICTW -> Y (in Ref. 6; CAB06054).might get lost (downstream of altered splice site)
18661867CONFLICTLR -> FS (in Ref. 6; CAB06054).might get lost (downstream of altered splice site)
19301930CONFLICTE -> K (in Ref. 1; BAE46899).might get lost (downstream of altered splice site)
19382161REGIONAAA 2 (By similarity).might get lost (downstream of altered splice site)
19791986NP_BINDATP (Potential).might get lost (downstream of altered splice site)
22512505REGIONAAA 3 (By similarity).might get lost (downstream of altered splice site)
22912298NP_BINDATP (Potential).might get lost (downstream of altered splice site)
26172863REGIONAAA 4 (By similarity).might get lost (downstream of altered splice site)
26552662NP_BINDATP (Potential).might get lost (downstream of altered splice site)
28813169REGIONStalk (By similarity).might get lost (downstream of altered splice site)
28972982COILEDPotential.might get lost (downstream of altered splice site)
30953095CONFLICTA -> V (in Ref. 7; CAD98012).might get lost (downstream of altered splice site)
31093200COILEDPotential.might get lost (downstream of altered splice site)
32443473REGIONAAA 5 (By similarity).might get lost (downstream of altered splice site)
34083442COILEDPotential.might get lost (downstream of altered splice site)
36653665CONFLICTL -> P (in Ref. 7; CAD98012).might get lost (downstream of altered splice site)
36903905REGIONAAA 6 (By similarity).might get lost (downstream of altered splice site)
42584258CONFLICTC -> R (in Ref. 3; BAB13905).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 12924 / 12924
position (AA) of stopcodon in wt / mu AA sequence 4308 / 4308
position of stopcodon in wt / mu cDNA 13068 / 13068
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 145 / 145
chromosome 11
strand 1
last intron/exon boundary 12910
theoretical NMD boundary in CDS 12715
length of CDS 12924
coding sequence (CDS) position 1759
cDNA position
(for ins/del: last normal base / first normal base)		 1903
gDNA position
(for ins/del: last normal base / first normal base)		 15767
chromosomal position
(for ins/del: last normal base / first normal base)		 102995926
original gDNA sequence snippet TGATTCTTCTGAGAGAAGTTCGTCAGCTCTCTGCACTTGGC
altered gDNA sequence snippet TGATTCTTCTGAGAGAAGTTTGTCAGCTCTCTGCACTTGGC
original cDNA sequence snippet TGATTCTTCTGAGAGAAGTTCGTCAGCTCTCTGCACTTGGC
altered cDNA sequence snippet TGATTCTTCTGAGAGAAGTTTGTCAGCTCTCTGCACTTGGC
wildtype AA sequence MANGTADVRK LFIFTTTQNY FGLMSELWDQ PLLCNCLEIN NFLDDGNQML LRVQRSDAGI
SFSNTIEFGD TKDKVLVFFK LRPEVITDEN LHDNILVSSM LESPISSLYQ AVRQVFAPML
LKDQEWSRNF DPKLQNLLSE LEAGLGIVLR RSDTNLTKLK FKEDDTRGIL TPSDEFQFWI
EQAHRGNKQI SKERANYFKE LFETIAREFY NLDSLSLLEV VDLVETTQDV VDDVWRQTEH
DHYPESRMLH LLDIIGGSFG RFVQKKLGTL NLWEDPYYLV KESLKAGISI CEQWVIVCNH
LTGQVWQRYV PHPWKNEKYF PETLDKLGKR LEEVLAIRTI HEKFLYFLPA SEEKIICLTR
VFEPFTGLNP VQYNPYTEPL WKAAVSQYEK IIAPAEQKIA GKLKNYISEI QDSPQQLLQA
FLKYKELVKR PTISKELMLE RETLLARLVD SIKDFRLDFE NRCRGIPGDA SGPLSGKNLS
EVVNSIVWVR QLELKVDDTI KIAEALLSDL PGFRCFHQSA KDLLDQLKLY EQEQFDDWSR
DIQSGLSDSR SGLCIEASSR IMELDSNDGL LKVHYSDRLV ILLREVRQLS ALGFVIPAKI
QQVANIAQKF CKQAIILKQV AHFYNSIDQQ MIQSQRPMML QSALAFEQII KNSKAGSGGK
SQITWDNPKE LEGYIQKLQN AAERLATENR KLRKWHTTFC EKVVVLMNID LLRQQQRWKD
GLQELRTGLA TVEAQGFQAS DMHAWKQHWN HQLYKALEHQ YQMGLEALNE NLPEINIDLT
YKQGRLQFRP PFEEIRAKYY REMKRFIGIP NQFKGVGEAG DESIFSIMID RNASGFLTIF
SKAEDLFRRL SAVLHQHKEW IVIGQVDMEA LVEKHLFTVH DWEKNFKALK IKGKEVERLP
SAVKVDCLNI NCNPVKTVID DLIQKLFDLL VLSLKKSIQA HLHEIDTFVT EAMEVLTIMP
QSVEEIGDAN LQYSKLQERK PEILPLFQEA EDKNRLLRTV AGGGLETISN LKAKWDKFEL
MMESHQLMIK DQIEVMKGNV KSRLQIYYQE LEKFKARWDQ LKPGDDVIET GQHNTLDKSA
KLIKEKKIEF DDLEVTRKKL VDDCHHFRLE EPNFSLASSI SKDIESCAQI WAFYEEFQQG
FQEMANEDWI TFRTKTYLFE EFLMNWHDRL RKVEEHSVMT VKLQSEVDKY KIVIPILKYV
RGEHLSPDHW LDLFRLLGLP RGTSLEKLLF GDLLRVADTI VAKAADLKDL NSRAQGEVTI
REALRELDLW GVGAVFTLID YEDSQSRTMK LIKDWKDIVN QVGDNRCLLQ SLKDSPYYKG
FEDKVSIWER KLAELDEYLQ NLNHIQRKWV YLEPIFGRGA LPKEQTRFNR VDEDFRSIMT
DIKKDNRVTT LTTHAGIRNS LLTILDQLQR CQKSLNEFLE EKRSAFPRFY FIGDDDLLEI
LGQSTNPSVI QSHLKKLFAG INSVCFDEKS KHITAMKSLE GEVVPFKNKV PLSNNVETWL
NDLALEMKKT LEQLLKECVT TGRSSQGAVD PSLFPSQILC LAEQIKFTED VENAIKDHSL
HQIETQLVNK LEQYTNIDTS SEDPGNTESG ILELKLKALI LDIIHNIDVV KQLNQIQVHT
TEDWAWKKQL RFYMKSDHTC CVQMVDSEFQ YTYEYQGNAS KLVYTPLTDK CYLTLTQAMK
MGLGGNPYGP AGTGKTESVK ALGGLLGRQV LVFNCDEGID VKSMGRIFVG LVKCGAWGCF
DEFNRLEESV LSAVSMQIQT IQDALKNHRT VCELLGKEVE VNSNSGIFIT MNPAGKGYGG
RQKLPDNLKQ LFRPVAMSHP DNELIAEVIL YSEGFKDAKV LSRKLVAIFN LSRELLTPQQ
HYDWGLRALK TVLRGSGNLL RQLNKSGTTQ NANESHIVVQ ALRLNTMSKF TFTDCTRFDA
LIKDVFPGIE LKEVEYDELS AALKQVFEEA NYEIIPNQIK KALELYEQLC QRMGVVIVGP
SGAGKSTLWR MLRAALCKTG KVVKQYTMNP KAMPRYQLLG HIDMDTREWS DGVLTNSARQ
VVREPQDVSS WIICDGDIDP EWIESLNSVL DDNRLLTMPS GERIQFGPNV NFVFETHDLS
CASPATISRM GMIFLSDEET DLNSLIKSWL RNQPAEYRNN LENWIGDYFE KALQWVLKQN
DYVVETSLVG TVMNGLSHLH GCRDHDEFII NLIRGLGGNL NMKSRLEFTK EVFHWARESP
PDFHKPMDTY YDSTRGRLAT YVLKKPEDLT ADDFSNGLTL PVIQTPDMQR GLDYFKPWLS
SDTKQPFILV GPEGCGKGML LRYAFSQLRS TQIATVHCSA QTTSRHLLQK LSQTCMVIST
NTGRVYRPKD CERLVLYLKD INLPKLDKWG TSTLVAFLQQ VLTYQGFYDE NLEWVGLENI
QIVASMSAGG RLGRHKLTTR FTSIVRLCSI DYPEREQLQT IYGAYLEPVL HKNLKNHSIW
GSSSKIYLLA GSMVQVYEQV RAKFTVDDYS HYFFTPCILT QWVLGLFRYD LEGGSSNHPL
DYVLEIVAYE ARRLFRDKIV GAKELHLFDI ILTSVFQGDW GSDILDNMSD SFYVTWGARH
NSGARAAPGQ PLPPHGKPLG KLNSTDLKDV IKKGLIHYGR DNQNLDILLF HEVLEYMSRI
DRVLSFPGGS LLLAGRSGVG RRTITSLVSH MHGAVLFSPK ISRGYELKQF KNDLKHVLQL
AGIEAQQVVL LLEDYQFVHP TFLEMINSLL SSGEVPGLYT LEELEPLLLP LKDQASQDGF
FGPVFNYFTY RIQQNLHIVL IMDSANSNFM INCESNPALH KKCQVLWMEG WSNSSMKKIP
EMLFSETGGG EKYNDKKRKE EKKKNSVDPD FLKSFLLIHE SCKAYGATPS RYMTFLHVYS
AISSSKKKEL LKRQSHLQAG VSKLNEAKAL VDELNRKAGE QSVLLKTKQD EADAALQMIT
VSMQDASEQK TELERLKHRI AEEVVKIEER KNKIDDELKE VQPLVNEAKL AVGNIKPESL
SEIRSLRMPP DVIRDILEGV LRLMGIFDTS WVSMKSFLAK RGVREDIATF DARNISKEIR
ESVEELLFKN KGSFDPKNAK RASTAAAPLA AWVKANIQYS HVLERIHPLE TEQAGLESNL
KKTEDRKRKL EELLNSVGQK VSELKEKFQS RTSEAAKLEA EVSKAQETIK AAEVLINQLD
REHKRWNAQV VEITEELATL PKRAQLAAAF ITYLSAAPES LRKTCLEEWT KSAGLEKFDL
RRFLCTESEQ LIWKSEGLPS DDLSIENALV ILQSRVCPFL IDPSSQATEW LKTHLKDSRL
EVINQQDSNF ITALELAVRF GKTLIIQEMD GVEPVLYPLL RRDLVAQGPR YVVQIGDKII
DYNEEFRLFL STRNPNPFIP PDAASIVTEV NFTTTRSGLR GQLLALTIQH EKPDLEEQKT
KLLQQEEDKK IQLAKLEESL LETLATSQGN ILENKDLIES LNQTKASSAL IQESLKESYK
LQISLDQERD AYLPLAESAS KMYFIISDLS KINNMYRFSL AAFLRLFQRA LQNKQDSENT
EQRIQSLISS LQHMVYEYIC RCLFKADQLM FALHFVRGMH PELFQENEWD TFTGVVVGDM
LRKADSQQKI RDQLPSWIDQ ERSWAVATLK IALPSLYQTL CFEDAALWRT YYNNSMCEQE
FPSILAKKVS LFQQILVVQA LRPDRLQSAM ALFACKTLGL KEVSPLPLNL KRLYKETLEI
EPILIIISPG ADPSQELQEL ANAERSGECY HQVAMGQGQA DLAIQMLKEC ARNGDWLCLK
NLHLVVSWLP VLEKELNTLQ PKDTFRLWLT AEVHPNFTPI LLQSSLKITY ESPPGLKKNL
MRTYESWTPE QISKKDNTHR AHALFSLAWF HAACQERRNY IPQGWTKFYE FSLSDLRAGY
NIIDRLFDGA KDVQWEFVHG LLENAIYGGR IDNYFDLRVL QSYLKQFFNS SVIDVFNQRN
KKSIFPYSVS LPQSCSILDY RAVIEKIPED DKPSFFGLPA NIARSSQRMI SSQVISQLRI
LGRSITAGSK FDREIWSNEL SPVLNLWKKL NQNSNLIHQK VPPPNDRQGS PILSFIILEQ
FNAIRLVQSV HQSLAALSKV IRGTTLLSSE VQKLASALLN QKCPLAWQSK WEGPEDPLQY
LRGLVARALA IQNWVDKAEK QALLSETLDL SELFHPDTFL NALRQETARA VGRSVDSLKF
VASWKGRLQE AKLQIKISGL LLEGCSFDGN QLSENQLDSP SVSSVLPCFM GWIPQDACGP
YSPDECISLP VYTSAERDRV VTNIDVPCGG NQDQWIQCGA ALFLKNQ*
mutated AA sequence MANGTADVRK LFIFTTTQNY FGLMSELWDQ PLLCNCLEIN NFLDDGNQML LRVQRSDAGI
SFSNTIEFGD TKDKVLVFFK LRPEVITDEN LHDNILVSSM LESPISSLYQ AVRQVFAPML
LKDQEWSRNF DPKLQNLLSE LEAGLGIVLR RSDTNLTKLK FKEDDTRGIL TPSDEFQFWI
EQAHRGNKQI SKERANYFKE LFETIAREFY NLDSLSLLEV VDLVETTQDV VDDVWRQTEH
DHYPESRMLH LLDIIGGSFG RFVQKKLGTL NLWEDPYYLV KESLKAGISI CEQWVIVCNH
LTGQVWQRYV PHPWKNEKYF PETLDKLGKR LEEVLAIRTI HEKFLYFLPA SEEKIICLTR
VFEPFTGLNP VQYNPYTEPL WKAAVSQYEK IIAPAEQKIA GKLKNYISEI QDSPQQLLQA
FLKYKELVKR PTISKELMLE RETLLARLVD SIKDFRLDFE NRCRGIPGDA SGPLSGKNLS
EVVNSIVWVR QLELKVDDTI KIAEALLSDL PGFRCFHQSA KDLLDQLKLY EQEQFDDWSR
DIQSGLSDSR SGLCIEASSR IMELDSNDGL LKVHYSDRLV ILLREVCQLS ALGFVIPAKI
QQVANIAQKF CKQAIILKQV AHFYNSIDQQ MIQSQRPMML QSALAFEQII KNSKAGSGGK
SQITWDNPKE LEGYIQKLQN AAERLATENR KLRKWHTTFC EKVVVLMNID LLRQQQRWKD
GLQELRTGLA TVEAQGFQAS DMHAWKQHWN HQLYKALEHQ YQMGLEALNE NLPEINIDLT
YKQGRLQFRP PFEEIRAKYY REMKRFIGIP NQFKGVGEAG DESIFSIMID RNASGFLTIF
SKAEDLFRRL SAVLHQHKEW IVIGQVDMEA LVEKHLFTVH DWEKNFKALK IKGKEVERLP
SAVKVDCLNI NCNPVKTVID DLIQKLFDLL VLSLKKSIQA HLHEIDTFVT EAMEVLTIMP
QSVEEIGDAN LQYSKLQERK PEILPLFQEA EDKNRLLRTV AGGGLETISN LKAKWDKFEL
MMESHQLMIK DQIEVMKGNV KSRLQIYYQE LEKFKARWDQ LKPGDDVIET GQHNTLDKSA
KLIKEKKIEF DDLEVTRKKL VDDCHHFRLE EPNFSLASSI SKDIESCAQI WAFYEEFQQG
FQEMANEDWI TFRTKTYLFE EFLMNWHDRL RKVEEHSVMT VKLQSEVDKY KIVIPILKYV
RGEHLSPDHW LDLFRLLGLP RGTSLEKLLF GDLLRVADTI VAKAADLKDL NSRAQGEVTI
REALRELDLW GVGAVFTLID YEDSQSRTMK LIKDWKDIVN QVGDNRCLLQ SLKDSPYYKG
FEDKVSIWER KLAELDEYLQ NLNHIQRKWV YLEPIFGRGA LPKEQTRFNR VDEDFRSIMT
DIKKDNRVTT LTTHAGIRNS LLTILDQLQR CQKSLNEFLE EKRSAFPRFY FIGDDDLLEI
LGQSTNPSVI QSHLKKLFAG INSVCFDEKS KHITAMKSLE GEVVPFKNKV PLSNNVETWL
NDLALEMKKT LEQLLKECVT TGRSSQGAVD PSLFPSQILC LAEQIKFTED VENAIKDHSL
HQIETQLVNK LEQYTNIDTS SEDPGNTESG ILELKLKALI LDIIHNIDVV KQLNQIQVHT
TEDWAWKKQL RFYMKSDHTC CVQMVDSEFQ YTYEYQGNAS KLVYTPLTDK CYLTLTQAMK
MGLGGNPYGP AGTGKTESVK ALGGLLGRQV LVFNCDEGID VKSMGRIFVG LVKCGAWGCF
DEFNRLEESV LSAVSMQIQT IQDALKNHRT VCELLGKEVE VNSNSGIFIT MNPAGKGYGG
RQKLPDNLKQ LFRPVAMSHP DNELIAEVIL YSEGFKDAKV LSRKLVAIFN LSRELLTPQQ
HYDWGLRALK TVLRGSGNLL RQLNKSGTTQ NANESHIVVQ ALRLNTMSKF TFTDCTRFDA
LIKDVFPGIE LKEVEYDELS AALKQVFEEA NYEIIPNQIK KALELYEQLC QRMGVVIVGP
SGAGKSTLWR MLRAALCKTG KVVKQYTMNP KAMPRYQLLG HIDMDTREWS DGVLTNSARQ
VVREPQDVSS WIICDGDIDP EWIESLNSVL DDNRLLTMPS GERIQFGPNV NFVFETHDLS
CASPATISRM GMIFLSDEET DLNSLIKSWL RNQPAEYRNN LENWIGDYFE KALQWVLKQN
DYVVETSLVG TVMNGLSHLH GCRDHDEFII NLIRGLGGNL NMKSRLEFTK EVFHWARESP
PDFHKPMDTY YDSTRGRLAT YVLKKPEDLT ADDFSNGLTL PVIQTPDMQR GLDYFKPWLS
SDTKQPFILV GPEGCGKGML LRYAFSQLRS TQIATVHCSA QTTSRHLLQK LSQTCMVIST
NTGRVYRPKD CERLVLYLKD INLPKLDKWG TSTLVAFLQQ VLTYQGFYDE NLEWVGLENI
QIVASMSAGG RLGRHKLTTR FTSIVRLCSI DYPEREQLQT IYGAYLEPVL HKNLKNHSIW
GSSSKIYLLA GSMVQVYEQV RAKFTVDDYS HYFFTPCILT QWVLGLFRYD LEGGSSNHPL
DYVLEIVAYE ARRLFRDKIV GAKELHLFDI ILTSVFQGDW GSDILDNMSD SFYVTWGARH
NSGARAAPGQ PLPPHGKPLG KLNSTDLKDV IKKGLIHYGR DNQNLDILLF HEVLEYMSRI
DRVLSFPGGS LLLAGRSGVG RRTITSLVSH MHGAVLFSPK ISRGYELKQF KNDLKHVLQL
AGIEAQQVVL LLEDYQFVHP TFLEMINSLL SSGEVPGLYT LEELEPLLLP LKDQASQDGF
FGPVFNYFTY RIQQNLHIVL IMDSANSNFM INCESNPALH KKCQVLWMEG WSNSSMKKIP
EMLFSETGGG EKYNDKKRKE EKKKNSVDPD FLKSFLLIHE SCKAYGATPS RYMTFLHVYS
AISSSKKKEL LKRQSHLQAG VSKLNEAKAL VDELNRKAGE QSVLLKTKQD EADAALQMIT
VSMQDASEQK TELERLKHRI AEEVVKIEER KNKIDDELKE VQPLVNEAKL AVGNIKPESL
SEIRSLRMPP DVIRDILEGV LRLMGIFDTS WVSMKSFLAK RGVREDIATF DARNISKEIR
ESVEELLFKN KGSFDPKNAK RASTAAAPLA AWVKANIQYS HVLERIHPLE TEQAGLESNL
KKTEDRKRKL EELLNSVGQK VSELKEKFQS RTSEAAKLEA EVSKAQETIK AAEVLINQLD
REHKRWNAQV VEITEELATL PKRAQLAAAF ITYLSAAPES LRKTCLEEWT KSAGLEKFDL
RRFLCTESEQ LIWKSEGLPS DDLSIENALV ILQSRVCPFL IDPSSQATEW LKTHLKDSRL
EVINQQDSNF ITALELAVRF GKTLIIQEMD GVEPVLYPLL RRDLVAQGPR YVVQIGDKII
DYNEEFRLFL STRNPNPFIP PDAASIVTEV NFTTTRSGLR GQLLALTIQH EKPDLEEQKT
KLLQQEEDKK IQLAKLEESL LETLATSQGN ILENKDLIES LNQTKASSAL IQESLKESYK
LQISLDQERD AYLPLAESAS KMYFIISDLS KINNMYRFSL AAFLRLFQRA LQNKQDSENT
EQRIQSLISS LQHMVYEYIC RCLFKADQLM FALHFVRGMH PELFQENEWD TFTGVVVGDM
LRKADSQQKI RDQLPSWIDQ ERSWAVATLK IALPSLYQTL CFEDAALWRT YYNNSMCEQE
FPSILAKKVS LFQQILVVQA LRPDRLQSAM ALFACKTLGL KEVSPLPLNL KRLYKETLEI
EPILIIISPG ADPSQELQEL ANAERSGECY HQVAMGQGQA DLAIQMLKEC ARNGDWLCLK
NLHLVVSWLP VLEKELNTLQ PKDTFRLWLT AEVHPNFTPI LLQSSLKITY ESPPGLKKNL
MRTYESWTPE QISKKDNTHR AHALFSLAWF HAACQERRNY IPQGWTKFYE FSLSDLRAGY
NIIDRLFDGA KDVQWEFVHG LLENAIYGGR IDNYFDLRVL QSYLKQFFNS SVIDVFNQRN
KKSIFPYSVS LPQSCSILDY RAVIEKIPED DKPSFFGLPA NIARSSQRMI SSQVISQLRI
LGRSITAGSK FDREIWSNEL SPVLNLWKKL NQNSNLIHQK VPPPNDRQGS PILSFIILEQ
FNAIRLVQSV HQSLAALSKV IRGTTLLSSE VQKLASALLN QKCPLAWQSK WEGPEDPLQY
LRGLVARALA IQNWVDKAEK QALLSETLDL SELFHPDTFL NALRQETARA VGRSVDSLKF
VASWKGRLQE AKLQIKISGL LLEGCSFDGN QLSENQLDSP SVSSVLPCFM GWIPQDACGP
YSPDECISLP VYTSAERDRV VTNIDVPCGG NQDQWIQCGA ALFLKNQ*
speed 0.91 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