Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999998328017291 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:228509427A>GN/A show variant in all transcripts   IGV
HGNC symbol OBSCN
Ensembl transcript ID ENST00000366707
Genbank transcript ID N/A
UniProt peptide Q5VST9
alteration type single base exchange
alteration region CDS
DNA changes c.7787A>G
cDNA.16474A>G
g.113597A>G
AA changes D2596G Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS
2596
frameshift no
known variant Reference ID: rs373610
databasehomozygous (G/G)heterozygousallele carriers
1000G12269772203
ExAC28901-250353866
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.5990.96
0.2250.118
(flanking)-0.1350.019
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 increased113587wt: 0.8180 / mu: 0.8378 (marginal change - not scored)wt: GCACCTGCTCTCTGCTGATCACTGGCCTGGACCGTGCTGAT
mu: GCACCTGCTCTCTGCTGATCACTGGCCTGGGCCGTGCTGAT
 atca|CTGG
Acc marginally increased113590wt: 0.9539 / mu: 0.9699 (marginal change - not scored)wt: CCTGCTCTCTGCTGATCACTGGCCTGGACCGTGCTGATGCT
mu: CCTGCTCTCTGCTGATCACTGGCCTGGGCCGTGCTGATGCT
 actg|GCCT
distance from splice site 383
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2596DGTCSLLITGLDRADAGCYTCQVS
mutated  not conserved    2596DGTCSLLITGLGRADAGCYTCQV
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000023096  1960DGTCSLLITGLGHADAGHYTCQV
Fcatus  not conserved  ENSFCAG00000000673  4959CLLVTGLGRADAGRYTCQV
Mmusculus  not conserved  ENSMUSG00000061462  5191DGTCSLLVTGLAPTDSGRYTCQV
Ggallus  all identical  ENSGALG00000004754  4968DGTCSLIITGLDRKDAGKYT
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000043309  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
25642643DOMAINIg-like 25.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 16809 / 16809
position (AA) of stopcodon in wt / mu AA sequence 5603 / 5603
position of stopcodon in wt / mu cDNA 25496 / 25496
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 8688 / 8688
chromosome 1
strand 1
last intron/exon boundary 25319
theoretical NMD boundary in CDS 16581
length of CDS 16809
coding sequence (CDS) position 7787
cDNA position
(for ins/del: last normal base / first normal base)
16474
gDNA position
(for ins/del: last normal base / first normal base)
113597
chromosomal position
(for ins/del: last normal base / first normal base)
228509427
original gDNA sequence snippet TCTGCTGATCACTGGCCTGGACCGTGCTGATGCTGGCTGCT
altered gDNA sequence snippet TCTGCTGATCACTGGCCTGGGCCGTGCTGATGCTGGCTGCT
original cDNA sequence snippet TCTGCTGATCACTGGCCTGGACCGTGCTGATGCTGGCTGCT
altered cDNA sequence snippet TCTGCTGATCACTGGCCTGGGCCGTGCTGATGCTGGCTGCT
wildtype AA sequence MLVIRGASLK DAGEYTCEVE ASKSTASLHV EEKANCFTEE LTNLQVEEKG TAVFTCKTEH
PAATVTWRKG LLELRASGKH QPSQEGLTLR LTISALEKAD SDTYTCDIGQ AQSRAQLLVQ
GRRVHIIEDL EDVDVQEGSS ATFRCRISPA NYEPVHWFLD KTPLHANELN EIDAQPGGYH
VLTLRQLALK DSGTIYFEAG DQRASAALRV TEKPSVFSRE LTDATITEGE DLTLVCETST
CDIPVCWTKD GKTLRGSARC QLSHEGHRAQ LLITGATLQD SGRYKCEAGG ACSSSIVRVH
ARPVRFQEAL KDLEVLEGGA ATLRCVLSSV AAPVKWCYGN NVLRPGDKYS LRQEGAMLEL
VVRNLRPQDS GRYSCSFGDQ TTSATLTVTA LPAQFIGKLR NKEATEGATA TLRCELSKAA
PVEWRKGSET LRDGDRYCLR QDGAMCELQI RGLAMVDAAE YSCVCGEERT SASLTIRPMP
AHFIGRLRHQ ESIEGATATL RCELSKAAPV EWRKGRESLR DGDRHSLRQD GAVCELQICG
LAVADAGEYS CVCGEERTSA TLTVKALPAK FTEGLRNEEA VEGATAMLWC ELSKVAPVEW
RKGPENLRDG DRYILRQEGT RCELQICGLA MADAGEYLCV CGQERTSATL TIRALPARFI
EDVKNQEARE GATAVLQCEL NSAAPVEWRK GSETLRDGDR YSLRQDGTKC ELQIRGLAMA
DTGEYSCVCG QERTSAMLTV RALPIKFTEG LRNEEATEGA TAVLRCELSK MAPVEWWKGH
ETLRDGDRHS LRQDGARCEL QIRGLVAEDA GEYLCMCGKE RTSAMLTVRA MPSKFIEGLR
NEEATEGDTA TLWCELSKAA PVEWRKGHET LRDGDRHSLR QDGSRCELQI RGLAVVDAGE
YSCVCGQERT SATLTVRALP ARFIEDVKNQ EAREGATAVL QCELSKAAPV EWRKGSETLR
GGDRYSLRQD GTRCELQIHG LSVADTGEYS CVCGQERTSA TLTVRALPAR FTQDLKTKEA
SEGATATLQC ELSKVAPVEW KKGPETLRDG GRYSLKQDGT RCELQIHDLS VADAGEYSCM
CGQERTSATL TVRALPARFT EGLRNEEAME GATATLQCEL SKAAPVEWRK GLEALRDGDK
YSLRQDGAVC ELQIHGLAMA DNGVYSCVCG QERTSATLTV RALPARFIED MRNQKATEGA
TVTLQCKLRK AAPVEWRKGP NTLKDGDRYS LKQDGTSCEL QIRGLVIADA GEYSCICEQE
RTSATLTVRA LPARFIEDVR NHEATEGATA VLQCELSKAA PVEWRKGSET LRDGDRYSLR
QDGTRCELQI RGLAVEDTGE YLCVCGQERT SATLTVRALP ARFIDNMTNQ EAREGATATL
HCELSKVAPV EWRKGPETLR DGDRHSLRQD GTRCELQIRG LSVADAGEYS CVCGQERTSA
TLTIREATEG ATAMLQCELS KVAPVEWRKG PETLRDGDRY NLRQDGTRCE LQIHGLSVAD
TGEYSCVCGQ EKTSATLTVK APQPVFREPL QSLQAEEGST ATLQCELSEP TATVVWSKGG
LQLQANGRRE PRLQGCTAEL VLQDLQREDT GEYTCTCGSQ ATSATLTVTA APVRFLRELQ
HQEVDEGGTA HLCCELSRAG ASVEWRKGSL QLFPCAKYQM VQDGAAAELL VRGVEQEDAG
DYTCDTGHTQ SMASLSVRVP RPKFKTRLQS LEQETGDIAR LCCQLSDAES GAVVQWLKEG
VELHAGPKYE MRSQGATREL LIHQLEAKDT GEYACVTGGQ KTAASLRVTE PEVTIVRGLV
DAEVTADEDV EFSCEVSRAG ATGVQWCLQG LPLQSNEVTE VAVRDGRIHT LRLKGVTPED
AGTVSFHLGN HASSAQLTVR APEVTILEPL QDVQLSEGQD ASFQCRLSRA SGQEARWALG
GVPLQANEMN DITVEQGTLH LLTLHKVTLE DAGTVSFHVG TCSSEAQLKV TAKNTVVRGL
ENVEALEGGE ALFECQLSQP EVAAHTWLLD DEPVHTSENA EVVFFENGLR HLLLLKNLRP
QDSCRVTFLA GDMVTSAFLT VRGWRLEILE PLKNAAVRAG AQACFTCTLS EAVPVGEASW
YINGAAVQPD DSDWTVTADG SHHALLLRSA QPHHAGEVTF ACRDAVASAR LTVLGLPDPP
EDAEVVARSS HTVTLSWAAP MSDGGGGLCG YRVEVKEGAT GQWRLCHELV PGPECVVDGL
APGETYRFRV AAVGPVGAGE PVHLPQTVRL AEPPKPVPPQ PSAPESRQVA AGEDVSLELE
VVAEAGEVIW HKGMERIQPG GRFEVVSQGR QQMLVIKGFT AEDQGEYHCG LAQGSICPAA
ATFQVALSPA SVDEAPQPSL PPEAAQEGDL HLLWEALARK RRMSREPTLD SISELPEEDG
RSQRLPQEAE EVAPDLSEGY STADELARTG DADLSHTSSD DESRAGTPSL VTYLKKAGRP
GTSPLASKVG APAAPSVKPQ QQQEPLAAVR PPLGDLSTKD LGDPSMDKAA VKIQAAFKGY
KVRKEMKQQE GPMFSHTFGD TEAQVGDALR LECVVASKAD VRARWLKDGV ELTDGRHHHI
DQLGDGTCSL LITGLDRADA GCYTCQVSNK FGQVTHSACV VVSGSESEAE SSSGGELDDA
FRRAARRLHR LFRTKSPAEV SDEELFLSAD EGPAEPEEPA DWQTYREDEH FICIRFEALT
EARQAVTRFQ EMFATLGIGV EIKLVEQGPR RVEMCISKET PAPVVPPEPL PSLLTSDAAP
VFLTELQNQE VQDGYPVSFD CVVTGQPMPS VRWFKDGKLL EEDDHYMINE DQQGGHQLII
TAVVPADMGV YRCLAENSMG VSSTKAELRV DLTSTDYDTA ADATESSSYF SAQGYLSSRE
QEGTESTTDE GQLPQVVEEL RDLQVAPGTR LAKFQLKVKG YPAPRLYWFK DGQPLTASAH
IRMTDKKILH TLEIISVTRE DSGQYAAYIS NAMGAAYSSA RLLVRGPDEP EEKPASDVHE
QLVPPRMLER FTPKKVKKGS SITFSVKVEG RPVPTVHWLR EEAERGVLWI GPDTPGYTVA
SSAQQHSLVL LDVGRQHQGT YTCIASNAAG QALCSASLHV SGLPKVEEQE KVKEALISTF
LQGTTQAISA QGLETASFAD LGGQRKEEPL AAKEALGHLS LAEVGTEEFL QKLTSQITEM
VSAKITQAKL QVPGGDSDED SKTPSASPRH GRSRPSSSIQ ESSSESEDGD ARGEIFDIYV
VTADYLPLGA EQDAITLREG QYVEVLDAAH PLRWLVRTKP TKSSPSRQGW VSPAYLDRRL
KLSPEWGAAE APEFPGEAVS EDEYKARLSS VIQELLSSEQ AFVEELQFLQ SHHLQHLERC
PHVPIAVAGQ KAVIFRNVRD IGRFHSSFLQ ELQQCDTDDD VAMCFIKNQA AFEQYLEFLV
GRVQAESVVV STAIQEFYKK YAEEALLAGD PSQPPPPPLQ HYLEQPVERV QRYQALLKEL
IRNKARNRQN CALLEQAYAV VSALPQRAEN KLHVSLMENY PGTLQALGEP IRQGHFIVWE
GAPGARMPWK GHNRHVFLFR NHLVICKPRR DSRTDTVSYV FRNMMKLSSI DLNDQVEGDD
RAFEVWQERE DSVRKYLLQA RTAIIKSSWV KEICGIQQRL ALPVWRPPDF EEELADCTAE
LGETVKLACR VTGTPKPVIS WYKDGKAVQV DPHHILIEDP DGSCALILDS LTGVDSGQYM
CFAASAAGNC STLGKILVQV PPRFVNKVRA SPFVEGEDAQ FTCTIEGAPY PQIRWYKDGA
LLTTGNKFQT LSEPRSGLLV LVIRAASKED LGLYECELVN RLGSARASAE LRIQSPMLQA
QEQCHREQLV AAVEDTTLER ADQEVTSVLK RLLGPKAPGP STGDLTGPGP CPRGAPALQE
TGSQPPVTGT SEAPAVPPRV PQPLLHEGPE QEPEAIARAQ EWTVPIRMEG AAWPGAGTGE
LLWDVHSHVV RETTQRTYTY QAIDTHTARP PSMQVTIEDV QAQTGGTAQF EAIIEGDPQP
SVTWYKDSVQ LVDSTRLSQQ QEGTTYSLVL RHVASKDAGV YTCLAQNTGG QVLCKAELLV
LGGDNEPDSE KQSHRRKLHS FYEVKEEIGR GVFGFVKRVQ HKGNKILCAA KFIPLRSRTR
AQAYRERDIL AALSHPLVTG LLDQFETRKT LILILELCSS EELLDRLYRK GVVTEAEVKV
YIQQLVEGLH YLHSHGVLHL DIKPSNILMV HPAREDIKIC DFGFAQNITP AELQFSQYGS
PEFVSPEIIQ QNPVSEASDI WAMGVISYLS LTCSSPFAGE SDRATLLNVL EGRVSWSSPM
AAHLSEDAKD FIKATLQRAP QARPSAAQCL SHPWFLKSMP AEEAHFINTK QLKFLLARSR
WQRSLMSYKS ILVMRSIPEL LRGPPDSPSL GVARHLCRDT GGSSSSSSSS DNELAPFARA
KSLPPSPVTH SPLLHPRGFL RPSASLPEEA EASERSTEAP APPASPEGAG PPAAQGCVPR
HSVIRSLFYH QAGESPEHGA LAPGSRRHPA RRRHLLKGGY IAGALPGLRE PLMEHRVLEE
EAAREEQATL LAKAPSFETA LRLPASGTHL APGHSHSLEH DSPSTPRPSS EACGEAQRLP
SAPSGGAPIR DMGHPQGSKQ LPSTGGHPGT AQPERPSPDS PWGQPAPFCH PKQGSAPQEG
CSPHPAVAPC PPGSFPPGSC KEAPLVPSSP FLGQPQAPPA PAKASPPLDS KMGPGDISLP
GRPKPGPCSS PGSASQASSS QVSSLRVGSS QVGTEPGPSL DAEGWTQEAE DLSDSTPTLQ
RPQEQATMRK FSLGGRGGYA GVAGYGTFAF GGDAGGMLGQ GPMWARIAWA VSQSEEEEQE
EARAESQSEE QQEARAESPL PQVSARPVPE VGRAPTRSSP EPTPWEDIGQ VSLVQIRDLS
GDAEAADTIS LDISEVDPAY LNLSDLYDIK YLPFEFMIFR KVPKSAQPEP PSPMAEEELA
EFPEPTWPWP GELGPHAGLE ITEESEDVDA LLAEAAVGRK RKWSSPSRSL FHFPGRHLPL
DEPAELGLRE RVKASVEHIS RILKGRPEGL EKEGPPRKKP GLASFRLSGL KSWDRAPTFL
RELSDETVVL GQSVTLACQV SAQPAAQATW SKDGAPLESS SRVLISATLK NFQLLTILVV
VAEDLGVYTC SVSNALGTVT TTGVLRKAER PSSSPCPDIG EVYADGVLLV WKPVESYGPV
TYIVQCSLEG GSWTTLASDI FDCCYLTSKL SRGGTYTFRT ACVSKAGMGP YSSPSEQVLL
GGPSHLASEE ESQGRSAQPL PSTKTFAFQT QIQRGRFSVV RQCWEKASGR ALAAKIIPYH
PKDKTAVLRE YEALKGLRHP HLAQLHAAYL SPRHLVLILE LCSGPELLPC LAERASYSES
EVKDYLWQML SATQYLHNQH ILHLDLRSEN MIITEYNLLK VVDLGNAQSL SQEKVLPSDK
FKDYLETMAP ELLEGQGAVP QTDIWAIGVT AFIMLSAEYP VSSEGARDLQ RGLRKGLVRL
SRCYAGLSGG AVAFLRSTLC AQPWGRPCAS SCLQCPWLTE EGPACSRPAP VTFPTARLRV
FVRNREKRRA LLYKRHNLAQ VR*
mutated AA sequence MLVIRGASLK DAGEYTCEVE ASKSTASLHV EEKANCFTEE LTNLQVEEKG TAVFTCKTEH
PAATVTWRKG LLELRASGKH QPSQEGLTLR LTISALEKAD SDTYTCDIGQ AQSRAQLLVQ
GRRVHIIEDL EDVDVQEGSS ATFRCRISPA NYEPVHWFLD KTPLHANELN EIDAQPGGYH
VLTLRQLALK DSGTIYFEAG DQRASAALRV TEKPSVFSRE LTDATITEGE DLTLVCETST
CDIPVCWTKD GKTLRGSARC QLSHEGHRAQ LLITGATLQD SGRYKCEAGG ACSSSIVRVH
ARPVRFQEAL KDLEVLEGGA ATLRCVLSSV AAPVKWCYGN NVLRPGDKYS LRQEGAMLEL
VVRNLRPQDS GRYSCSFGDQ TTSATLTVTA LPAQFIGKLR NKEATEGATA TLRCELSKAA
PVEWRKGSET LRDGDRYCLR QDGAMCELQI RGLAMVDAAE YSCVCGEERT SASLTIRPMP
AHFIGRLRHQ ESIEGATATL RCELSKAAPV EWRKGRESLR DGDRHSLRQD GAVCELQICG
LAVADAGEYS CVCGEERTSA TLTVKALPAK FTEGLRNEEA VEGATAMLWC ELSKVAPVEW
RKGPENLRDG DRYILRQEGT RCELQICGLA MADAGEYLCV CGQERTSATL TIRALPARFI
EDVKNQEARE GATAVLQCEL NSAAPVEWRK GSETLRDGDR YSLRQDGTKC ELQIRGLAMA
DTGEYSCVCG QERTSAMLTV RALPIKFTEG LRNEEATEGA TAVLRCELSK MAPVEWWKGH
ETLRDGDRHS LRQDGARCEL QIRGLVAEDA GEYLCMCGKE RTSAMLTVRA MPSKFIEGLR
NEEATEGDTA TLWCELSKAA PVEWRKGHET LRDGDRHSLR QDGSRCELQI RGLAVVDAGE
YSCVCGQERT SATLTVRALP ARFIEDVKNQ EAREGATAVL QCELSKAAPV EWRKGSETLR
GGDRYSLRQD GTRCELQIHG LSVADTGEYS CVCGQERTSA TLTVRALPAR FTQDLKTKEA
SEGATATLQC ELSKVAPVEW KKGPETLRDG GRYSLKQDGT RCELQIHDLS VADAGEYSCM
CGQERTSATL TVRALPARFT EGLRNEEAME GATATLQCEL SKAAPVEWRK GLEALRDGDK
YSLRQDGAVC ELQIHGLAMA DNGVYSCVCG QERTSATLTV RALPARFIED MRNQKATEGA
TVTLQCKLRK AAPVEWRKGP NTLKDGDRYS LKQDGTSCEL QIRGLVIADA GEYSCICEQE
RTSATLTVRA LPARFIEDVR NHEATEGATA VLQCELSKAA PVEWRKGSET LRDGDRYSLR
QDGTRCELQI RGLAVEDTGE YLCVCGQERT SATLTVRALP ARFIDNMTNQ EAREGATATL
HCELSKVAPV EWRKGPETLR DGDRHSLRQD GTRCELQIRG LSVADAGEYS CVCGQERTSA
TLTIREATEG ATAMLQCELS KVAPVEWRKG PETLRDGDRY NLRQDGTRCE LQIHGLSVAD
TGEYSCVCGQ EKTSATLTVK APQPVFREPL QSLQAEEGST ATLQCELSEP TATVVWSKGG
LQLQANGRRE PRLQGCTAEL VLQDLQREDT GEYTCTCGSQ ATSATLTVTA APVRFLRELQ
HQEVDEGGTA HLCCELSRAG ASVEWRKGSL QLFPCAKYQM VQDGAAAELL VRGVEQEDAG
DYTCDTGHTQ SMASLSVRVP RPKFKTRLQS LEQETGDIAR LCCQLSDAES GAVVQWLKEG
VELHAGPKYE MRSQGATREL LIHQLEAKDT GEYACVTGGQ KTAASLRVTE PEVTIVRGLV
DAEVTADEDV EFSCEVSRAG ATGVQWCLQG LPLQSNEVTE VAVRDGRIHT LRLKGVTPED
AGTVSFHLGN HASSAQLTVR APEVTILEPL QDVQLSEGQD ASFQCRLSRA SGQEARWALG
GVPLQANEMN DITVEQGTLH LLTLHKVTLE DAGTVSFHVG TCSSEAQLKV TAKNTVVRGL
ENVEALEGGE ALFECQLSQP EVAAHTWLLD DEPVHTSENA EVVFFENGLR HLLLLKNLRP
QDSCRVTFLA GDMVTSAFLT VRGWRLEILE PLKNAAVRAG AQACFTCTLS EAVPVGEASW
YINGAAVQPD DSDWTVTADG SHHALLLRSA QPHHAGEVTF ACRDAVASAR LTVLGLPDPP
EDAEVVARSS HTVTLSWAAP MSDGGGGLCG YRVEVKEGAT GQWRLCHELV PGPECVVDGL
APGETYRFRV AAVGPVGAGE PVHLPQTVRL AEPPKPVPPQ PSAPESRQVA AGEDVSLELE
VVAEAGEVIW HKGMERIQPG GRFEVVSQGR QQMLVIKGFT AEDQGEYHCG LAQGSICPAA
ATFQVALSPA SVDEAPQPSL PPEAAQEGDL HLLWEALARK RRMSREPTLD SISELPEEDG
RSQRLPQEAE EVAPDLSEGY STADELARTG DADLSHTSSD DESRAGTPSL VTYLKKAGRP
GTSPLASKVG APAAPSVKPQ QQQEPLAAVR PPLGDLSTKD LGDPSMDKAA VKIQAAFKGY
KVRKEMKQQE GPMFSHTFGD TEAQVGDALR LECVVASKAD VRARWLKDGV ELTDGRHHHI
DQLGDGTCSL LITGLGRADA GCYTCQVSNK FGQVTHSACV VVSGSESEAE SSSGGELDDA
FRRAARRLHR LFRTKSPAEV SDEELFLSAD EGPAEPEEPA DWQTYREDEH FICIRFEALT
EARQAVTRFQ EMFATLGIGV EIKLVEQGPR RVEMCISKET PAPVVPPEPL PSLLTSDAAP
VFLTELQNQE VQDGYPVSFD CVVTGQPMPS VRWFKDGKLL EEDDHYMINE DQQGGHQLII
TAVVPADMGV YRCLAENSMG VSSTKAELRV DLTSTDYDTA ADATESSSYF SAQGYLSSRE
QEGTESTTDE GQLPQVVEEL RDLQVAPGTR LAKFQLKVKG YPAPRLYWFK DGQPLTASAH
IRMTDKKILH TLEIISVTRE DSGQYAAYIS NAMGAAYSSA RLLVRGPDEP EEKPASDVHE
QLVPPRMLER FTPKKVKKGS SITFSVKVEG RPVPTVHWLR EEAERGVLWI GPDTPGYTVA
SSAQQHSLVL LDVGRQHQGT YTCIASNAAG QALCSASLHV SGLPKVEEQE KVKEALISTF
LQGTTQAISA QGLETASFAD LGGQRKEEPL AAKEALGHLS LAEVGTEEFL QKLTSQITEM
VSAKITQAKL QVPGGDSDED SKTPSASPRH GRSRPSSSIQ ESSSESEDGD ARGEIFDIYV
VTADYLPLGA EQDAITLREG QYVEVLDAAH PLRWLVRTKP TKSSPSRQGW VSPAYLDRRL
KLSPEWGAAE APEFPGEAVS EDEYKARLSS VIQELLSSEQ AFVEELQFLQ SHHLQHLERC
PHVPIAVAGQ KAVIFRNVRD IGRFHSSFLQ ELQQCDTDDD VAMCFIKNQA AFEQYLEFLV
GRVQAESVVV STAIQEFYKK YAEEALLAGD PSQPPPPPLQ HYLEQPVERV QRYQALLKEL
IRNKARNRQN CALLEQAYAV VSALPQRAEN KLHVSLMENY PGTLQALGEP IRQGHFIVWE
GAPGARMPWK GHNRHVFLFR NHLVICKPRR DSRTDTVSYV FRNMMKLSSI DLNDQVEGDD
RAFEVWQERE DSVRKYLLQA RTAIIKSSWV KEICGIQQRL ALPVWRPPDF EEELADCTAE
LGETVKLACR VTGTPKPVIS WYKDGKAVQV DPHHILIEDP DGSCALILDS LTGVDSGQYM
CFAASAAGNC STLGKILVQV PPRFVNKVRA SPFVEGEDAQ FTCTIEGAPY PQIRWYKDGA
LLTTGNKFQT LSEPRSGLLV LVIRAASKED LGLYECELVN RLGSARASAE LRIQSPMLQA
QEQCHREQLV AAVEDTTLER ADQEVTSVLK RLLGPKAPGP STGDLTGPGP CPRGAPALQE
TGSQPPVTGT SEAPAVPPRV PQPLLHEGPE QEPEAIARAQ EWTVPIRMEG AAWPGAGTGE
LLWDVHSHVV RETTQRTYTY QAIDTHTARP PSMQVTIEDV QAQTGGTAQF EAIIEGDPQP
SVTWYKDSVQ LVDSTRLSQQ QEGTTYSLVL RHVASKDAGV YTCLAQNTGG QVLCKAELLV
LGGDNEPDSE KQSHRRKLHS FYEVKEEIGR GVFGFVKRVQ HKGNKILCAA KFIPLRSRTR
AQAYRERDIL AALSHPLVTG LLDQFETRKT LILILELCSS EELLDRLYRK GVVTEAEVKV
YIQQLVEGLH YLHSHGVLHL DIKPSNILMV HPAREDIKIC DFGFAQNITP AELQFSQYGS
PEFVSPEIIQ QNPVSEASDI WAMGVISYLS LTCSSPFAGE SDRATLLNVL EGRVSWSSPM
AAHLSEDAKD FIKATLQRAP QARPSAAQCL SHPWFLKSMP AEEAHFINTK QLKFLLARSR
WQRSLMSYKS ILVMRSIPEL LRGPPDSPSL GVARHLCRDT GGSSSSSSSS DNELAPFARA
KSLPPSPVTH SPLLHPRGFL RPSASLPEEA EASERSTEAP APPASPEGAG PPAAQGCVPR
HSVIRSLFYH QAGESPEHGA LAPGSRRHPA RRRHLLKGGY IAGALPGLRE PLMEHRVLEE
EAAREEQATL LAKAPSFETA LRLPASGTHL APGHSHSLEH DSPSTPRPSS EACGEAQRLP
SAPSGGAPIR DMGHPQGSKQ LPSTGGHPGT AQPERPSPDS PWGQPAPFCH PKQGSAPQEG
CSPHPAVAPC PPGSFPPGSC KEAPLVPSSP FLGQPQAPPA PAKASPPLDS KMGPGDISLP
GRPKPGPCSS PGSASQASSS QVSSLRVGSS QVGTEPGPSL DAEGWTQEAE DLSDSTPTLQ
RPQEQATMRK FSLGGRGGYA GVAGYGTFAF GGDAGGMLGQ GPMWARIAWA VSQSEEEEQE
EARAESQSEE QQEARAESPL PQVSARPVPE VGRAPTRSSP EPTPWEDIGQ VSLVQIRDLS
GDAEAADTIS LDISEVDPAY LNLSDLYDIK YLPFEFMIFR KVPKSAQPEP PSPMAEEELA
EFPEPTWPWP GELGPHAGLE ITEESEDVDA LLAEAAVGRK RKWSSPSRSL FHFPGRHLPL
DEPAELGLRE RVKASVEHIS RILKGRPEGL EKEGPPRKKP GLASFRLSGL KSWDRAPTFL
RELSDETVVL GQSVTLACQV SAQPAAQATW SKDGAPLESS SRVLISATLK NFQLLTILVV
VAEDLGVYTC SVSNALGTVT TTGVLRKAER PSSSPCPDIG EVYADGVLLV WKPVESYGPV
TYIVQCSLEG GSWTTLASDI FDCCYLTSKL SRGGTYTFRT ACVSKAGMGP YSSPSEQVLL
GGPSHLASEE ESQGRSAQPL PSTKTFAFQT QIQRGRFSVV RQCWEKASGR ALAAKIIPYH
PKDKTAVLRE YEALKGLRHP HLAQLHAAYL SPRHLVLILE LCSGPELLPC LAERASYSES
EVKDYLWQML SATQYLHNQH ILHLDLRSEN MIITEYNLLK VVDLGNAQSL SQEKVLPSDK
FKDYLETMAP ELLEGQGAVP QTDIWAIGVT AFIMLSAEYP VSSEGARDLQ RGLRKGLVRL
SRCYAGLSGG AVAFLRSTLC AQPWGRPCAS SCLQCPWLTE EGPACSRPAP VTFPTARLRV
FVRNREKRRA LLYKRHNLAQ VR*
speed 0.67 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