mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999997063 (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
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:228494790G>AN/A show variant in all transcripts IGV

HGNC symbol

OBSCN

Ensembl transcript ID

ENST00000284548

Genbank transcript ID

NM_052843

UniProt peptide

Q5VST9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.12115G>A
cDNA.12189G>A
g.98960G>A

AA changes

G4039R Score: 125 explain score(s)

position(s) of altered AA
if AA alteration in CDS

4039

frameshift

known variant

Reference ID: rs435776

database	homozygous (A/A)	heterozygous	allele carriers
1000G	247	851	1098
ExAC	11098	10571	21669

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.635	0
	0.358	0
(flanking)	0.113	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	98952	wt: 0.65 / mu: 0.78	wt: GCTGCTGGTACGCGG mu: GCTGCTGGTACGCAG	TGCT\|ggta
Donor marginally increased	98957	wt: 0.9796 / mu: 0.9810 (marginal change - not scored)	wt: TGGTACGCGGAGTGG mu: TGGTACGCAGAGTGG	GTAC\|gcgg
Donor marginally increased	98962	wt: 0.9954 / mu: 0.9971 (marginal change - not scored)	wt: CGCGGAGTGGAGCAG mu: CGCAGAGTGGAGCAG	CGGA\|gtgg
Donor gained	98960	0.81	mu: TACGCAGAGTGGAGC	CGCA\|gagt

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

4039

mutated

not conserved

4039

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000023096

1038

Fcatus

not conserved

ENSFCAG00000000673

4039

Mmusculus

not conserved

ENSMUSG00000061462

4267

Ggallus

not conserved

ENSGALG00000004754

4046

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000043309

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
3978	4062	DOMAIN	Ig-like 41.	lost
4050	4050	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4068	4160	DOMAIN	Ig-like 42.	might get lost (downstream of altered splice site)
4089	4089	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4141	4141	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4155	4155	CONFLICT	T -> TG (in Ref. 3; CAC85752).	might get lost (downstream of altered splice site)
4171	4239	DOMAIN	Ig-like 43.	might get lost (downstream of altered splice site)
4248	4337	DOMAIN	Ig-like 44.	might get lost (downstream of altered splice site)
4340	4427	DOMAIN	Ig-like 45.	might get lost (downstream of altered splice site)
4398	4401	COMPBIAS	Poly-Leu.	might get lost (downstream of altered splice site)
4430	4518	DOMAIN	Ig-like 46.	might get lost (downstream of altered splice site)
4453	4453	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4489	4489	CONFLICT	H -> Q (in Ref. 1; CAC44768).	might get lost (downstream of altered splice site)
4508	4508	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4523	4614	DOMAIN	Fibronectin type-III 3.	might get lost (downstream of altered splice site)
4624	4714	DOMAIN	Ig-like 47.	might get lost (downstream of altered splice site)
4846	4849	COMPBIAS	Poly-Gln.	might get lost (downstream of altered splice site)
4872	4901	DOMAIN	IQ.	might get lost (downstream of altered splice site)
4898	4989	DOMAIN	Ig-like 48.	might get lost (downstream of altered splice site)
4919	4919	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4959	4959	CONFLICT	T -> A (in Ref. 1; CAC44768).	might get lost (downstream of altered splice site)
4971	4971	DISULFID	By similarity.	might get lost (downstream of altered splice site)
5126	5215	DOMAIN	Ig-like 49.	might get lost (downstream of altered splice site)
5147	5147	DISULFID	By similarity.	might get lost (downstream of altered splice site)
5199	5199	DISULFID	By similarity.	might get lost (downstream of altered splice site)
5243	5243	CONFLICT	S -> ST (in Ref. 1; CAC85753).	might get lost (downstream of altered splice site)
5260	5349	DOMAIN	Ig-like 50.	might get lost (downstream of altered splice site)
5371	5467	DOMAIN	Ig-like 51.	might get lost (downstream of altered splice site)
5391	5391	CONFLICT	S -> F (in Ref. 4; BAB13465).	might get lost (downstream of altered splice site)
5499	5500	CONFLICT	LE -> FQ (in Ref. 1; CAC44768).	might get lost (downstream of altered splice site)
5601	5668	DOMAIN	SH3.	might get lost (downstream of altered splice site)
5604	5609	STRAND		might get lost (downstream of altered splice site)
5628	5636	STRAND		might get lost (downstream of altered splice site)
5639	5644	STRAND		might get lost (downstream of altered splice site)
5654	5657	STRAND		might get lost (downstream of altered splice site)
5659	5661	HELIX		might get lost (downstream of altered splice site)
5662	5665	STRAND		might get lost (downstream of altered splice site)
5693	5877	DOMAIN	DH.	might get lost (downstream of altered splice site)
5895	6004	DOMAIN	PH.	might get lost (downstream of altered splice site)
6014	6097	DOMAIN	Ig-like 52.	might get lost (downstream of altered splice site)
6035	6035	DISULFID	By similarity.	might get lost (downstream of altered splice site)
6038	6038	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
6040	6040	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
6087	6087	DISULFID	By similarity.	might get lost (downstream of altered splice site)
6108	6200	DOMAIN	Ig-like 53.	might get lost (downstream of altered splice site)
6115	6115	CONFLICT	R -> L (in Ref. 1; CAC44768).	might get lost (downstream of altered splice site)
6129	6129	DISULFID	By similarity.	might get lost (downstream of altered splice site)
6182	6182	DISULFID	By similarity.	might get lost (downstream of altered splice site)
6357	6445	DOMAIN	Ig-like 54.	might get lost (downstream of altered splice site)
6468	6721	DOMAIN	Protein kinase 1.	might get lost (downstream of altered splice site)
6474	6482	NP_BIND	ATP (By similarity).	might get lost (downstream of altered splice site)
6497	6497	BINDING	ATP (By similarity).	might get lost (downstream of altered splice site)
6570	6570	CONFLICT	Q -> E (in Ref. 3; CAJ76912).	might get lost (downstream of altered splice site)
6587	6587	ACT_SITE	Proton acceptor (By similarity).	might get lost (downstream of altered splice site)
6710	6711	CONFLICT	PS -> SG (in Ref. 3; CAJ76912).	might get lost (downstream of altered splice site)
6789	6796	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
6969	7117	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)
7463	7552	DOMAIN	Ig-like 55.	might get lost (downstream of altered splice site)
7484	7484	DISULFID	By similarity.	might get lost (downstream of altered splice site)
7536	7536	DISULFID	By similarity.	might get lost (downstream of altered splice site)
7557	7644	DOMAIN	Fibronectin type-III 4.	might get lost (downstream of altered splice site)
7671	7671	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
7672	7924	DOMAIN	Protein kinase 2.	might get lost (downstream of altered splice site)
7678	7686	NP_BIND	ATP (By similarity).	might get lost (downstream of altered splice site)
7701	7701	BINDING	ATP (By similarity).	might get lost (downstream of altered splice site)
7791	7791	ACT_SITE	Proton acceptor (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

19863 / 19863

position (AA) of stopcodon in wt / mu AA sequence

6621 / 6621

position of stopcodon in wt / mu cDNA

19937 / 19937

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

75 / 75

chromosome

strand

last intron/exon boundary

18779

theoretical NMD boundary in CDS

18654

length of CDS

19863

coding sequence (CDS) position

12115

cDNA position
(for ins/del: last normal base / first normal base)

12189

gDNA position
(for ins/del: last normal base / first normal base)

98960

chromosomal position
(for ins/del: last normal base / first normal base)

228494790

original gDNA sequence snippet

CTGCAGAGCTGCTGGTACGCGGAGTGGAGCAGGAGGATGCG

altered gDNA sequence snippet

CTGCAGAGCTGCTGGTACGCAGAGTGGAGCAGGAGGATGCG

original cDNA sequence snippet

CTGCAGAGCTGCTGGTACGCGGAGTGGAGCAGGAGGATGCG

altered cDNA sequence snippet

CTGCAGAGCTGCTGGTACGCAGAGTGGAGCAGGAGGATGCG

wildtype AA sequence

MDQPQFSGAP RFLTRPKAFV VSVGKDATLS CQIVGNPTPQ VSWEKDQQPV AAGARFRLAQ
DGDLYRLTIL DLALGDSGQY VCRARNAIGE AFAAVGLQVD AEAACAEQAP HFLLRPTSIR
VREGSEATFR CRVGGSPRPA VSWSKDGRRL GEPDGPRVRV EELGEASALR IRAARPRDGG
TYEVRAENPL GAASAAAALV VDSDAADTAS RPGTSTAALL AHLQRRREAM RAEGAPASPP
STGTRTCTVT EGKHARLSCY VTGEPKPETV WKKDGQLVTE GRRHVVYEDA QENFVLKILF
CKQSDRGLYT CTASNLVGQT YSSVLVVVRE PAVPFKKRLQ DLEVREKESA TFLCEVPQPS
TEAAWFKEET RLWASAKYGI EEEGTERRLT VRNVSADDDA VYICETPEGS RTVAELAVQG
NLLRKLPRKT AVRVGDTAMF CVELAVPVGP VHWLRNQEEV VAGGRVAISA EGTRHTLTIS
QCCLEDVGQV AFMAGDCQTS TQFCVSAPRK PPLQPPVDPV VKARMESSVI LSWSPPPHGE
RPVTIDGYLV EKKKLGTYTW IRCHEAEWVA TPELTVADVA EEGNFQFRVS ALNSFGQSPY
LEFPGTVHLA PKLAVRTPLK AVQAVEGGEV TFSVDLTVAS AGEWFLDGQA LKASSVYEIH
CDRTRHTLTI REVPASLHGA QLKFVANGIE SSIRMEVRAA PGLTANKPPA AAAREVLARL
HEEAQLLAEL SDQAAAVTWL KDGRTLSPGP KYEVQASAGR RVLLVRDVAR DDAGLYECVS
RGGRIAYQLS VQGLARFLHK DMAGSCVDAV AGGPAQFECE TSEAHVHVHW YKDGMELGHS
GERFLQEDVG TRHRLVAATV TRQDEGTYSC RVGEDSVDFR LRVSEPKVVF AKEQLARRKL
QAEAGASATL SCEVAQAQTE VTWYKDGKKL SSSSKVCMEA TGCTRRLVVQ QAGQADAGEY
SCEAGGQRLS FHLDVKEPKV VFAKDQVAHS EVQAEAGASA TLSCEVAQAQ TEVMWYKDGK
KLSSSLKVHV EAKGCRRRLV VQQAGKTDAG DYSCEARGQR VSFRLHITEP KMMFAKEQSV
HNEVQAEAGA SAMLSCEVAQ AQTEVTWYKD GKKLSSSSKV GMEVKGCTRR LVLPQAGKAD
AGEYSCEAGG QRVSFHLHIT EPKGVFAKEQ SVHNEVQAEA GTTAMLSCEV AQPQTEVTWY
KDGKKLSSSS KVRMEVKGCT RRLVVQQVGK ADAGEYSCEA GGQRVSFQLH ITEPKAVFAK
EQLVHNEVRT EAGASATLSC EVAQAQTEVT WYKDGKKLSS SSKVRIEAAG CMRQLVVQQA
GQADAGEYTC EAGGQRLSFH LDVSEPKAVF AKEQLAHRKV QAEAGAIATL SCEVAQAQTE
VTWYKDGKKL SSSSKVRMEA VGCTRRLVVQ QACQADTGEY SCEAGGQRLS FSLDVAEPKV
VFAKEQPVHR EVQAQAGAST TLSCEVAQAQ TEVMWYKDGK KLSFSSKVRM EAVGCTRRLV
VQQAGQAVAG EYSCEAGSQR LSFHLHVAEP KAVFAKEQPA SREVQAEAGT SATLSCEVAQ
AQTEVTWYKD GKKLSSSSKV RMEAVGCTRR LVVQEAGQAD AGEYSCKAGD QRLSFHLHVA
EPKVVFAKEQ PAHREVQAEA GASATLSCEV AQAQTEVTWY KDGKKLSSSS KVRVEAVGCT
RRLVVQQAGQ AEAGEYSCEA GGQQLSFRLQ VAELEPQISE RPCRREPLVV KEHEDIILTA
TLATPSAATV TWLKDGVEIR RSKRHETASQ GDTHTLTVHG AQVLDSAIYS CRVGAEGQDF
PVQVEEVAAK FCRLLEPVCG ELGGTVTLAC ELSPACAEVV WRCGNTQLRV GKRFQMVAEG
PVRSLTVLGL RAEDAGEYVC ESRDDHTSAQ LTVSVPRVVK FMSGLSTVVA EEGGEATFQC
VVSPSDVAVV WFRDGALLQP SEKFAISQSG ASHSLTISDL VLEDAGQITV EAEGASSSAA
LRVREAPVLF KKKLEPQTVE ERSSVTLEVE LTRPWPELRW TRNATALAPG KNVEIHAEGA
RHRLVLHNVG FADRGFFGCE TPDDKTQAKL TVEMRQVRLV RGLQAVEARE QGTATMEVQL
SHADVDGSWT RDGLRFQQGP TCHLAVRGPM HTLTLSGLRP EDSGLMVFKA EGVHTSARLV
VTELPVSFSR PLQDVVTTEK EKVTLECELS RPNVDVRWLK DGVELRAGKT MAIAAQGACR
SLTIYRCEFA DQGVYVCDAH DAQSSASVKV QGRTYTLIYR RVLAEDAGEI QFVAENAESR
AQLRVKELPV TLVRPLRDKI AMEKHRGVLE CQVSRASAQV RWFKGSQELQ PGPKYELVSD
GLYRKLIISD VHAEDEDTYT CDAGDVKTSA QFFVEEQSIT IVRGLQDVTV MEPAPAWFEC
ETSIPSVRPP KWLLGKTVLQ AGGNVGLEQE GTVHRLMLRR TCSTMTGPVH FTVGKSRSSA
RLVVSDIPVV LTRPLEPKTG RELQSVVLSC DFRPAPKAVQ WYKDDTPLSP SEKFKMSLEG
QMAELRILRL MPADAGVYRC QAGSAHSSTE VTVEAREVTV TGPLQDAEAT EEGWASFSCE
LSHEDEEVEW SLNGMPLYND SFHEISHKGR RHTLVLKSIQ RADAGIVRAS SLKVSTSARL
EVRVKPVVFL KALDDLSAEE RGTLALQCEV SDPEAHVVWR KDGVQLGPSD KYDFLHTAGT
RGLVVHDVSP EDAGLYTCHV GSEETRARVR VHDLHVGITK RLKTMEVLEG ESCSFECVLS
HESASDPAMW TVGGKTVGSS SRFQATRQGR KYILVVREAA PSDAGEVVFS VRGLTSKASL
IVRERPAAII KPLEDQWVAP GEDVELRCEL SRAGTPVHWL KDRKAIRKSQ KYDVVCEGTM
AMLVIRGASL KDAGEYTCEV EASKSTASLH VEEKANCFTE ELTNLQVEEK GTAVFTCKTE
HPAATVTWRK GLLELRASGK HQPSQEGLTL RLTISALEKA DSDTYTCDIG QAQSRAQLLV
QGRRVHIIED LEDVDVQEGS SATFRCRISP ANYEPVHWFL DKTPLHANEL NEIDAQPGGY
HVLTLRQLAL KDSGTIYFEA GDQRASAALR VTEKPSVFSR ELTDATITEG EDLTLVCETS
TCDIPVCWTK DGKTLRGSAR CQLSHEGHRA QLLITGATLQ DSGRYKCEAG GACSSSIVRV
HARPVRFQEA LKDLEVLEGG AATLRCVLSS VAAPVKWCYG NNVLRPGDKY SLRQEGAMLE
LVVRNLRPQD SGRYSCSFGD QTTSATLTVT ALPAQFIGKL RNKEATEGAT ATLRCELSKA
APVEWRKGSE TLRDGDRYCL RQDGAMCELQ IRGLAMVDAA EYSCVCGEER TSASLTIRPM
PAHFIGRLRH QESIEGATAT LRCELSKAAP VEWRKGRESL RDGDRHSLRQ DGAVCELQIC
GLAVADAGEY SCVCGEERTS ATLTVKALPA KFTEGLRNEE AVEGATAMLW CELSKVAPVE
WRKGPENLRD GDRYILRQEG TRCELQICGL AMADAGEYLC VCGQERTSAT LTIRALPARF
IEDVKNQEAR EGATAVLQCE LNSAAPVEWR KGSETLRDGD RYSLRQDGTK CELQIRGLAM
ADTGEYSCVC GQERTSAMLT VRALPIKFTE GLRNEEATEG ATAVLRCELS KMAPVEWWKG
HETLRDGDRH SLRQDGARCE LQIRGLVAED AGEYLCMCGK ERTSAMLTVR AMPSKFIEGL
RNEEATEGDT ATLWCELSKA APVEWRKGHE TLRDGDRHSL RQDGSRCELQ IRGLAVVDAG
EYSCVCGQER TSATLTVRAL PARFIEDVKN QEAREGATAV LQCELSKAAP VEWRKGSETL
RGGDRYSLRQ DGTRCELQIH GLSVADTGEY SCVCGQERTS ATLTVRAPQP VFREPLQSLQ
AEEGSTATLQ CELSEPTATV VWSKGGLQLQ ANGRREPRLQ GCTAELVLQD LQREDTGEYT
CTCGSQATSA TLTVTAAPVR FLRELQHQEV DEGGTAHLCC ELSRAGASVE WRKGSLQLFP
CAKYQMVQDG AAAELLVRGV EQEDAGDYTC DTGHTQSMAS LSVRVPRPKF KTRLQSLEQE
TGDIARLCCQ LSDAESGAVV QWLKEGVELH AGPKYEMRSQ GATRELLIHQ LEAKDTGEYA
CVTGGQKTAA SLRVTEPEVT IVRGLVDAEV TADEDVEFSC EVSRAGATGV QWCLQGLPLQ
SNEVTEVAVR DGRIHTLRLK GVTPEDAGTV SFHLGNHASS AQLTVRAPEV TILEPLQDVQ
LSEGQDASFQ CRLSRASGQE ARWALGGVPL QANEMNDITV EQGTLHLLTL HKVTLEDAGT
VSFHVGTCSS EAQLKVTAKN TVVRGLENVE ALEGGEALFE CQLSQPEVAA HTWLLDDEPV
HTSENAEVVF FENGLRHLLL LKNLRPQDSC RVTFLAGDMV TSAFLTVRGW RLEILEPLKN
AAVRAGAQAC FTCTLSEAVP VGEASWYING AAVQPDDSDW TVTADGSHHA LLLRSAQPHH
AGEVTFACRD AVASARLTVL GLPDPPEDAE VVARSSHTVT LSWAAPMSDG GGGLCGYRVE
VKEGATGQWR LCHELVPGPE CVVDGLAPGE TYRFRVAAVG PVGAGEPVHL PQTVRLAEPP
KPVPPQPSAP ESRQVAAGED VSLELEVVAE AGEVIWHKGM ERIQPGGRFE VVSQGRQQML
VIKGFTAEDQ GEYHCGLAQG SICPAAATFQ VALSPASVDE APQPSLPPEA AQEGDLHLLW
EALARKRRMS REPTLDSISE LPEEDGRSQR LPQEAEEVAP DLSEGYSTAD ELARTGDADL
SHTSSDDESR AGTPSLVTYL KKAGRPGTSP LASKVGAPAA PSVKPQQQQE PLAAVRPPLG
DLSTKDLGDP SMDKAAVKIQ AAFKGYKVRK EMKQQEGPMF SHTFGDTEAQ VGDALRLECV
VASKADVRAR WLKDGVELTD GRHHHIDQLG DGTCSLLITG LDRADAGCYT CQVSNKFGQV
THSACVVVSG SESEAESSSG GELDDAFRRA ARRLHRLFRT KSPAEVSDEE LFLSADEGPA
EPEEPADWQT YREDEHFICI RFEALTEARQ AVTRFQEMFA TLGIGVEIKL VEQGPRRVEM
CISKETPAPV VPPEPLPSLL TSDAAPVFLT ELQNQEVQDG YPVSFDCVVT GQPMPSVRWF
KDGKLLEEDD HYMINEDQQG GHQLIITAVV PADMGVYRCL AENSMGVSST KAELRVDLTS
TDYDTAADAT ESSSYFSAQG YLSSREQEGT ESTTDEGQLP QVVEELRDLQ VAPGTRLAKF
QLKVKGYPAP RLYWFKDGQP LTASAHIRMT DKKILHTLEI ISVTREDSGQ YAAYISNAMG
AAYSSARLLV RGPDEPEEKP ASDVHEQLVP PRMLERFTPK KVKKGSSITF SVKVEGRPVP
TVHWLREEAE RGVLWIGPDT PGYTVASSAQ QHSLVLLDVG RQHQGTYTCI ASNAAGQALC
SASLHVSGLP KVEEQEKVKE ALISTFLQGT TQAISAQGLE TASFADLGGQ RKEEPLAAKE
ALGHLSLAEV GTEEFLQKLT SQITEMVSAK ITQAKLQVPG GDSDEDSKTP SASPRHGRSR
PSSSIQESSS ESEDGDARGE IFDIYVVTAD YLPLGAEQDA ITLREGQYVE VLDAAHPLRW
LVRTKPTKSS PSRQGWVSPA YLDRRLKLSP EWGAAEAPEF PGEAVSEDEY KARLSSVIQE
LLSSEQAFVE ELQFLQSHHL QHLERCPHVP IAVAGQKAVI FRNVRDIGRF HSSFLQELQQ
CDTDDDVAMC FIKNQAAFEQ YLEFLVGRVQ AESVVVSTAI QEFYKKYAEE ALLAGDPSQP
PPPPLQHYLE QPVERVQRYQ ALLKELIRNK ARNRQNCALL EQAYAVVSAL PQRAENKLHV
SLMENYPGTL QALGEPIRQG HFIVWEGAPG ARMPWKGHNR HVFLFRNHLV ICKPRRDSRT
DTVSYVFRNM MKLSSIDLND QVEGDDRAFE VWQEREDSVR KYLLQARTAI IKSSWVKEIC
GIQQRLALPV WRPPDFEEEL ADCTAELGET VKLACRVTGT PKPVISWYKD GKAVQVDPHH
ILIEDPDGSC ALILDSLTGV DSGQYMCFAA SAAGNCSTLG KILVQVPPRF VNKVRASPFV
EGEDAQFTCT IEGAPYPQIR WYKDGALLTT GNKFQTLSEP RSGLLVLVIR AASKEDLGLY
ECELVNRLGS ARASAELRIQ SPMLQAQEQC HREQLVAAVE VTEQETKVPK KTVIIEETIT
TVVKSPRGQR RSPSKSPSRS PSRCSASPLR PGLLAPDLLY LPGAGQPRRP EAEPGQKPVV
PTLYVTEAEA HSPALPGLSG PQPKWVEVEE TIEVRVKKMG PQGVSPTTEV PRSSSGHLFT
LPGATPGGDP NSNNSNNKLL AQEAWAQGTA MVGVREPLVF RVDARGSVDW AASGMGSLEE
EGTMEEAGEE EGEDGDAFVT EESQDTHSLG DRDPKILTHN GRMLTLADLE DYVPGEGETF
HCGGPGPGAP DDPPCEVSVI QREIGEPTVG QPVLLSVGHA LGPRGPLGLF RPEPRGASPP
GPQVRSLEGT SFLLREAPAR PVGSAPWTQS FCTRIRRSAD SGQSSFTTEL STQTVNFGTV
GETVTLHICP DRDGDEAAQP *

mutated AA sequence

MDQPQFSGAP RFLTRPKAFV VSVGKDATLS CQIVGNPTPQ VSWEKDQQPV AAGARFRLAQ
DGDLYRLTIL DLALGDSGQY VCRARNAIGE AFAAVGLQVD AEAACAEQAP HFLLRPTSIR
VREGSEATFR CRVGGSPRPA VSWSKDGRRL GEPDGPRVRV EELGEASALR IRAARPRDGG
TYEVRAENPL GAASAAAALV VDSDAADTAS RPGTSTAALL AHLQRRREAM RAEGAPASPP
STGTRTCTVT EGKHARLSCY VTGEPKPETV WKKDGQLVTE GRRHVVYEDA QENFVLKILF
CKQSDRGLYT CTASNLVGQT YSSVLVVVRE PAVPFKKRLQ DLEVREKESA TFLCEVPQPS
TEAAWFKEET RLWASAKYGI EEEGTERRLT VRNVSADDDA VYICETPEGS RTVAELAVQG
NLLRKLPRKT AVRVGDTAMF CVELAVPVGP VHWLRNQEEV VAGGRVAISA EGTRHTLTIS
QCCLEDVGQV AFMAGDCQTS TQFCVSAPRK PPLQPPVDPV VKARMESSVI LSWSPPPHGE
RPVTIDGYLV EKKKLGTYTW IRCHEAEWVA TPELTVADVA EEGNFQFRVS ALNSFGQSPY
LEFPGTVHLA PKLAVRTPLK AVQAVEGGEV TFSVDLTVAS AGEWFLDGQA LKASSVYEIH
CDRTRHTLTI REVPASLHGA QLKFVANGIE SSIRMEVRAA PGLTANKPPA AAAREVLARL
HEEAQLLAEL SDQAAAVTWL KDGRTLSPGP KYEVQASAGR RVLLVRDVAR DDAGLYECVS
RGGRIAYQLS VQGLARFLHK DMAGSCVDAV AGGPAQFECE TSEAHVHVHW YKDGMELGHS
GERFLQEDVG TRHRLVAATV TRQDEGTYSC RVGEDSVDFR LRVSEPKVVF AKEQLARRKL
QAEAGASATL SCEVAQAQTE VTWYKDGKKL SSSSKVCMEA TGCTRRLVVQ QAGQADAGEY
SCEAGGQRLS FHLDVKEPKV VFAKDQVAHS EVQAEAGASA TLSCEVAQAQ TEVMWYKDGK
KLSSSLKVHV EAKGCRRRLV VQQAGKTDAG DYSCEARGQR VSFRLHITEP KMMFAKEQSV
HNEVQAEAGA SAMLSCEVAQ AQTEVTWYKD GKKLSSSSKV GMEVKGCTRR LVLPQAGKAD
AGEYSCEAGG QRVSFHLHIT EPKGVFAKEQ SVHNEVQAEA GTTAMLSCEV AQPQTEVTWY
KDGKKLSSSS KVRMEVKGCT RRLVVQQVGK ADAGEYSCEA GGQRVSFQLH ITEPKAVFAK
EQLVHNEVRT EAGASATLSC EVAQAQTEVT WYKDGKKLSS SSKVRIEAAG CMRQLVVQQA
GQADAGEYTC EAGGQRLSFH LDVSEPKAVF AKEQLAHRKV QAEAGAIATL SCEVAQAQTE
VTWYKDGKKL SSSSKVRMEA VGCTRRLVVQ QACQADTGEY SCEAGGQRLS FSLDVAEPKV
VFAKEQPVHR EVQAQAGAST TLSCEVAQAQ TEVMWYKDGK KLSFSSKVRM EAVGCTRRLV
VQQAGQAVAG EYSCEAGSQR LSFHLHVAEP KAVFAKEQPA SREVQAEAGT SATLSCEVAQ
AQTEVTWYKD GKKLSSSSKV RMEAVGCTRR LVVQEAGQAD AGEYSCKAGD QRLSFHLHVA
EPKVVFAKEQ PAHREVQAEA GASATLSCEV AQAQTEVTWY KDGKKLSSSS KVRVEAVGCT
RRLVVQQAGQ AEAGEYSCEA GGQQLSFRLQ VAELEPQISE RPCRREPLVV KEHEDIILTA
TLATPSAATV TWLKDGVEIR RSKRHETASQ GDTHTLTVHG AQVLDSAIYS CRVGAEGQDF
PVQVEEVAAK FCRLLEPVCG ELGGTVTLAC ELSPACAEVV WRCGNTQLRV GKRFQMVAEG
PVRSLTVLGL RAEDAGEYVC ESRDDHTSAQ LTVSVPRVVK FMSGLSTVVA EEGGEATFQC
VVSPSDVAVV WFRDGALLQP SEKFAISQSG ASHSLTISDL VLEDAGQITV EAEGASSSAA
LRVREAPVLF KKKLEPQTVE ERSSVTLEVE LTRPWPELRW TRNATALAPG KNVEIHAEGA
RHRLVLHNVG FADRGFFGCE TPDDKTQAKL TVEMRQVRLV RGLQAVEARE QGTATMEVQL
SHADVDGSWT RDGLRFQQGP TCHLAVRGPM HTLTLSGLRP EDSGLMVFKA EGVHTSARLV
VTELPVSFSR PLQDVVTTEK EKVTLECELS RPNVDVRWLK DGVELRAGKT MAIAAQGACR
SLTIYRCEFA DQGVYVCDAH DAQSSASVKV QGRTYTLIYR RVLAEDAGEI QFVAENAESR
AQLRVKELPV TLVRPLRDKI AMEKHRGVLE CQVSRASAQV RWFKGSQELQ PGPKYELVSD
GLYRKLIISD VHAEDEDTYT CDAGDVKTSA QFFVEEQSIT IVRGLQDVTV MEPAPAWFEC
ETSIPSVRPP KWLLGKTVLQ AGGNVGLEQE GTVHRLMLRR TCSTMTGPVH FTVGKSRSSA
RLVVSDIPVV LTRPLEPKTG RELQSVVLSC DFRPAPKAVQ WYKDDTPLSP SEKFKMSLEG
QMAELRILRL MPADAGVYRC QAGSAHSSTE VTVEAREVTV TGPLQDAEAT EEGWASFSCE
LSHEDEEVEW SLNGMPLYND SFHEISHKGR RHTLVLKSIQ RADAGIVRAS SLKVSTSARL
EVRVKPVVFL KALDDLSAEE RGTLALQCEV SDPEAHVVWR KDGVQLGPSD KYDFLHTAGT
RGLVVHDVSP EDAGLYTCHV GSEETRARVR VHDLHVGITK RLKTMEVLEG ESCSFECVLS
HESASDPAMW TVGGKTVGSS SRFQATRQGR KYILVVREAA PSDAGEVVFS VRGLTSKASL
IVRERPAAII KPLEDQWVAP GEDVELRCEL SRAGTPVHWL KDRKAIRKSQ KYDVVCEGTM
AMLVIRGASL KDAGEYTCEV EASKSTASLH VEEKANCFTE ELTNLQVEEK GTAVFTCKTE
HPAATVTWRK GLLELRASGK HQPSQEGLTL RLTISALEKA DSDTYTCDIG QAQSRAQLLV
QGRRVHIIED LEDVDVQEGS SATFRCRISP ANYEPVHWFL DKTPLHANEL NEIDAQPGGY
HVLTLRQLAL KDSGTIYFEA GDQRASAALR VTEKPSVFSR ELTDATITEG EDLTLVCETS
TCDIPVCWTK DGKTLRGSAR CQLSHEGHRA QLLITGATLQ DSGRYKCEAG GACSSSIVRV
HARPVRFQEA LKDLEVLEGG AATLRCVLSS VAAPVKWCYG NNVLRPGDKY SLRQEGAMLE
LVVRNLRPQD SGRYSCSFGD QTTSATLTVT ALPAQFIGKL RNKEATEGAT ATLRCELSKA
APVEWRKGSE TLRDGDRYCL RQDGAMCELQ IRGLAMVDAA EYSCVCGEER TSASLTIRPM
PAHFIGRLRH QESIEGATAT LRCELSKAAP VEWRKGRESL RDGDRHSLRQ DGAVCELQIC
GLAVADAGEY SCVCGEERTS ATLTVKALPA KFTEGLRNEE AVEGATAMLW CELSKVAPVE
WRKGPENLRD GDRYILRQEG TRCELQICGL AMADAGEYLC VCGQERTSAT LTIRALPARF
IEDVKNQEAR EGATAVLQCE LNSAAPVEWR KGSETLRDGD RYSLRQDGTK CELQIRGLAM
ADTGEYSCVC GQERTSAMLT VRALPIKFTE GLRNEEATEG ATAVLRCELS KMAPVEWWKG
HETLRDGDRH SLRQDGARCE LQIRGLVAED AGEYLCMCGK ERTSAMLTVR AMPSKFIEGL
RNEEATEGDT ATLWCELSKA APVEWRKGHE TLRDGDRHSL RQDGSRCELQ IRGLAVVDAG
EYSCVCGQER TSATLTVRAL PARFIEDVKN QEAREGATAV LQCELSKAAP VEWRKGSETL
RGGDRYSLRQ DGTRCELQIH GLSVADTGEY SCVCGQERTS ATLTVRAPQP VFREPLQSLQ
AEEGSTATLQ CELSEPTATV VWSKGGLQLQ ANGRREPRLQ GCTAELVLQD LQREDTGEYT
CTCGSQATSA TLTVTAAPVR FLRELQHQEV DEGGTAHLCC ELSRAGASVE WRKGSLQLFP
CAKYQMVQDG AAAELLVRRV EQEDAGDYTC DTGHTQSMAS LSVRVPRPKF KTRLQSLEQE
TGDIARLCCQ LSDAESGAVV QWLKEGVELH AGPKYEMRSQ GATRELLIHQ LEAKDTGEYA
CVTGGQKTAA SLRVTEPEVT IVRGLVDAEV TADEDVEFSC EVSRAGATGV QWCLQGLPLQ
SNEVTEVAVR DGRIHTLRLK GVTPEDAGTV SFHLGNHASS AQLTVRAPEV TILEPLQDVQ
LSEGQDASFQ CRLSRASGQE ARWALGGVPL QANEMNDITV EQGTLHLLTL HKVTLEDAGT
VSFHVGTCSS EAQLKVTAKN TVVRGLENVE ALEGGEALFE CQLSQPEVAA HTWLLDDEPV
HTSENAEVVF FENGLRHLLL LKNLRPQDSC RVTFLAGDMV TSAFLTVRGW RLEILEPLKN
AAVRAGAQAC FTCTLSEAVP VGEASWYING AAVQPDDSDW TVTADGSHHA LLLRSAQPHH
AGEVTFACRD AVASARLTVL GLPDPPEDAE VVARSSHTVT LSWAAPMSDG GGGLCGYRVE
VKEGATGQWR LCHELVPGPE CVVDGLAPGE TYRFRVAAVG PVGAGEPVHL PQTVRLAEPP
KPVPPQPSAP ESRQVAAGED VSLELEVVAE AGEVIWHKGM ERIQPGGRFE VVSQGRQQML
VIKGFTAEDQ GEYHCGLAQG SICPAAATFQ VALSPASVDE APQPSLPPEA AQEGDLHLLW
EALARKRRMS REPTLDSISE LPEEDGRSQR LPQEAEEVAP DLSEGYSTAD ELARTGDADL
SHTSSDDESR AGTPSLVTYL KKAGRPGTSP LASKVGAPAA PSVKPQQQQE PLAAVRPPLG
DLSTKDLGDP SMDKAAVKIQ AAFKGYKVRK EMKQQEGPMF SHTFGDTEAQ VGDALRLECV
VASKADVRAR WLKDGVELTD GRHHHIDQLG DGTCSLLITG LDRADAGCYT CQVSNKFGQV
THSACVVVSG SESEAESSSG GELDDAFRRA ARRLHRLFRT KSPAEVSDEE LFLSADEGPA
EPEEPADWQT YREDEHFICI RFEALTEARQ AVTRFQEMFA TLGIGVEIKL VEQGPRRVEM
CISKETPAPV VPPEPLPSLL TSDAAPVFLT ELQNQEVQDG YPVSFDCVVT GQPMPSVRWF
KDGKLLEEDD HYMINEDQQG GHQLIITAVV PADMGVYRCL AENSMGVSST KAELRVDLTS
TDYDTAADAT ESSSYFSAQG YLSSREQEGT ESTTDEGQLP QVVEELRDLQ VAPGTRLAKF
QLKVKGYPAP RLYWFKDGQP LTASAHIRMT DKKILHTLEI ISVTREDSGQ YAAYISNAMG
AAYSSARLLV RGPDEPEEKP ASDVHEQLVP PRMLERFTPK KVKKGSSITF SVKVEGRPVP
TVHWLREEAE RGVLWIGPDT PGYTVASSAQ QHSLVLLDVG RQHQGTYTCI ASNAAGQALC
SASLHVSGLP KVEEQEKVKE ALISTFLQGT TQAISAQGLE TASFADLGGQ RKEEPLAAKE
ALGHLSLAEV GTEEFLQKLT SQITEMVSAK ITQAKLQVPG GDSDEDSKTP SASPRHGRSR
PSSSIQESSS ESEDGDARGE IFDIYVVTAD YLPLGAEQDA ITLREGQYVE VLDAAHPLRW
LVRTKPTKSS PSRQGWVSPA YLDRRLKLSP EWGAAEAPEF PGEAVSEDEY KARLSSVIQE
LLSSEQAFVE ELQFLQSHHL QHLERCPHVP IAVAGQKAVI FRNVRDIGRF HSSFLQELQQ
CDTDDDVAMC FIKNQAAFEQ YLEFLVGRVQ AESVVVSTAI QEFYKKYAEE ALLAGDPSQP
PPPPLQHYLE QPVERVQRYQ ALLKELIRNK ARNRQNCALL EQAYAVVSAL PQRAENKLHV
SLMENYPGTL QALGEPIRQG HFIVWEGAPG ARMPWKGHNR HVFLFRNHLV ICKPRRDSRT
DTVSYVFRNM MKLSSIDLND QVEGDDRAFE VWQEREDSVR KYLLQARTAI IKSSWVKEIC
GIQQRLALPV WRPPDFEEEL ADCTAELGET VKLACRVTGT PKPVISWYKD GKAVQVDPHH
ILIEDPDGSC ALILDSLTGV DSGQYMCFAA SAAGNCSTLG KILVQVPPRF VNKVRASPFV
EGEDAQFTCT IEGAPYPQIR WYKDGALLTT GNKFQTLSEP RSGLLVLVIR AASKEDLGLY
ECELVNRLGS ARASAELRIQ SPMLQAQEQC HREQLVAAVE VTEQETKVPK KTVIIEETIT
TVVKSPRGQR RSPSKSPSRS PSRCSASPLR PGLLAPDLLY LPGAGQPRRP EAEPGQKPVV
PTLYVTEAEA HSPALPGLSG PQPKWVEVEE TIEVRVKKMG PQGVSPTTEV PRSSSGHLFT
LPGATPGGDP NSNNSNNKLL AQEAWAQGTA MVGVREPLVF RVDARGSVDW AASGMGSLEE
EGTMEEAGEE EGEDGDAFVT EESQDTHSLG DRDPKILTHN GRMLTLADLE DYVPGEGETF
HCGGPGPGAP DDPPCEVSVI QREIGEPTVG QPVLLSVGHA LGPRGPLGLF RPEPRGASPP
GPQVRSLEGT SFLLREAPAR PVGSAPWTQS FCTRIRRSAD SGQSSFTTEL STQTVNFGTV
GETVTLHICP DRDGDEAAQP *

speed

0.57 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