mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.998518313564237 (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)

chr11:92573911G>TN/A show variant in all transcripts IGV

HGNC symbol

FAT3

Ensembl transcript ID

ENST00000525166

Genbank transcript ID

N/A

UniProt peptide

Q8TDW7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.10102G>T
cDNA.10124G>T
g.488650G>T

AA changes

V3368L Score: 32 explain score(s)

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

3368

frameshift

known variant

Reference ID: rs10765565

database	homozygous (T/T)	heterozygous	allele carriers
1000G	304	1012	1316
ExAC	8848	15071	23919

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.593	0.322
	0.48	0.463
(flanking)	3.178	0.975

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
Acc increased	488658	wt: 0.41 / mu: 0.72	wt: TCTCTGGAATACGTGTTGTGTGTCCAGGTATGGCATCGCAC mu: TCTCTGGAATACTTGTTGTGTGTCCAGGTATGGCATCGCAC	gtgt\|GTCC
Donor marginally increased	488651	wt: 0.7586 / mu: 0.7825 (marginal change - not scored)	wt: ATACGTGTTGTGTGT mu: ATACTTGTTGTGTGT	ACGT\|gttg
Acc gained	488656	0.71	mu: AGTCTCTGGAATACTTGTTGTGTGTCCAGGTATGGCATCGC	ttgt\|GTGT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

3368

mutated

all conserved

3368

Ptroglodytes

all identical

ENSPTRG00000004168

3518

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000074505

3513

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all identical

FBgn0261574

3571

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000017133

2295

protein features

start (aa)	end (aa)	feature	details
33	4154	TOPO_DOM	Extracellular (Potential).	lost
3342	3446	DOMAIN	Cadherin 31.	lost
3447	3551	DOMAIN	Cadherin 32.	might get lost (downstream of altered splice site)
3450	3450	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3552	3653	DOMAIN	Cadherin 33.	might get lost (downstream of altered splice site)
3619	3619	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3742	3742	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3795	3833	DOMAIN	EGF-like 1.	might get lost (downstream of altered splice site)
3799	3799	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3804	3804	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3810	3810	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3822	3822	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3824	3824	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3832	3832	DISULFID	By similarity.	might get lost (downstream of altered splice site)
3835	4018	DOMAIN	Laminin G-like.	might get lost (downstream of altered splice site)
3927	3927	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
3985	3985	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4018	4018	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4021	4058	DOMAIN	EGF-like 2.	might get lost (downstream of altered splice site)
4025	4025	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4030	4030	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4036	4036	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4046	4046	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4048	4048	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4057	4057	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4060	4096	DOMAIN	EGF-like 3.	might get lost (downstream of altered splice site)
4064	4064	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4069	4069	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4075	4075	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4084	4084	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4086	4086	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4095	4095	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4098	4134	DOMAIN	EGF-like 4; calcium-binding (Potential).	might get lost (downstream of altered splice site)
4102	4102	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4107	4107	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4113	4113	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4122	4122	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4124	4124	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4133	4133	DISULFID	By similarity.	might get lost (downstream of altered splice site)
4155	4175	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
4176	4589	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
4438	4509	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

13320 / 13320

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

4440 / 4440

position of stopcodon in wt / mu cDNA

13342 / 13342

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

23 / 23

chromosome

strand

last intron/exon boundary

12720

theoretical NMD boundary in CDS

12647

length of CDS

13320

coding sequence (CDS) position

10102

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

10124

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

488650

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

92573911

original gDNA sequence snippet

ACACAGAGTCTCTGGAATACGTGTTGTGTGTCCAGGTATGG

altered gDNA sequence snippet

ACACAGAGTCTCTGGAATACTTGTTGTGTGTCCAGGTATGG

original cDNA sequence snippet

ACACAGAGTCTCTGGAATACGTGTTGTGTGTCCAGGCAAAG

altered cDNA sequence snippet

ACACAGAGTCTCTGGAATACTTGTTGTGTGTCCAGGCAAAG

wildtype AA sequence

MNDLRPLFSP TTYSVTIAES TPLRTSVAQV TATDADIGSN GEFYYYFKNK VDLFSVHPTS
GVISLSGRLN YDEKNRYDLE ILAVDRGMKL YGNNGVSSTA KLYVHIERIN EHAPTIHVVT
HVPFSLEKEP TYAVVTVDDL DDGANGEIES VSIVAGDPLD QFFLAKEGKW LNEYKIKERK
QIDWESFPYG YNLTLQAKDK GSPQKCSALK AVYIGNPTRD TVPIRFEKEV YDVSISEFSP
PGVVVAIVKL SPEPIDVEYK LSPGEDAVYF KINPRSGLIV TARPLNTVKK EVYKLEVTNK
EGDLKAQVTI SIEDANDHTP EFQQPLYDAY VNESVPVGTS VLTVSASDKD KGENGYITYS
IASLNLLPFV INQFTGVIST TEELDFESSP EIYRFIVRAS DWGSPYRHES EVNVTIRIGN
VNDNSPLFEK VACQGVISYD FPVGGHITAV SAIDIDELEL VKYKIISGNE LGFFYLNPDS
GVLQLKKSLT NSGIKNGNFA LRITATDGEN LADPMSINIS VLHGKVSSKS FSCRETRVAQ
KLAEKLLIKA KANGKLNLED GFLDFYSINR QGPYFDKSFP SDVAVKEDLP VGANILKIKA
YDADSGFNGK VLFTISDGNT DSCFNIDMET GQLKVLMPMD REHTDLYLLN ITIYDLGNPQ
KSSWRLLTIN VEDANDNSPV FIQDSYSVNI LESSGIGTEI IQVEARDKDL GSNGEVTYSV
LTDTQQFAIN SSTGIVYVAD QLDRESKANY SLKIEARDKA ESGQQLFSVV TLKVFLDDVN
DCSPAFIPSS YSVKVLEDLP VGTVIAWLET HDPDLGLGGQ VRYSLVNDYN GRFEIDKASG
AIRLSKELDY EKQQFYNLTV RAKDKGRPVS LSSVSFVEVE VVDVNENLHT PYFPDFAVVG
SVKENSRIGT SVLQVTARDE DSGRDGEIQY SIRDGSGLGR FSIDDESGVI TAADILDRET
MGSYWLTVYA TDRGVVPLYS TIEVYIEVED VNDNAPLTSE PIYYPVVMEN SPKDVSVIQI
QAEDPDSSSN EKLTYRITSG NPQNFFAINI KTGLITTTSR KLDREQQAEH FLEVTVTDGG
PSPKQSTIWV VVQVLDENDN KPQFPEKVYQ IKLPERDRKK RGEPIYRAFA FDRDEGPNAE
ISYSIVDGND DGKFFIDPKT GMVSSRKQFT AGSYDILTIK AVDNGRPQKS STARLHIEWI
KKPPPSPIPL TFDEPFYNFT VMESDRVTEI VGVVSVQPAN TPLWFDIVGG NFDSAFDAEK
GVGTIVIAKP LDAEQRSIYN MSVEVTDGTN VAVTQVFIKV LDNNDNGPEF SQPNYDVTIS
EDVLPDTEIL QIEATDRDEK HKLSYTVHSS IDSISMRKFR IDPSTGVLYT AERLDHEAQD
KHILNIMVRD QEFPYRRNLA RVIVNVEDAN DHSPYFTNPL YEASVFESAA LGSAVLQVTA
LDKDKGENAE LIYTIEAGNT GNMFKIEPVL GIITICKEPD MTTMGQFVLS IKVTDQGSPP
MSATAIVRIS VTMSDNSHPK FIHKDYQAEV NENVDIGTSV ILISAISQST LIYEVKDGDI
NGIFTINPYS GVITTQKALD YERTSSYQLI IQATNMAGMA SNATVNIQIV DENDNAPVFL
FSQYSGSLSE AAPINSIVRS LDNSPLVIRA TDADSNRNAL LVYQIVESTA KKFFTVDSST
GAIRTIANLD HETIAHFHFH VHVRDSGSPQ LTAESPVEVN IEVTDVNDNP PVFTQAVFET
ILLLPTYVGV EVLKVSATDP DSEVPPELTY SLMEGSLDHF LIDSNSGVLT IKNNNLSKDH
YMLIVKVSDG KFYSTSMVTI MVKEAMDSGL HFTQSFYSTS ISENNTNITK VAIVNAVGNR
LNEPLKYSIL NPGNKFKIKS TSGVIQTTGV PFDREEQELY ELVVEASREL DHLRVARVVV
RVNIEDINDN SPVFVGLPYY AAVQVDAEPG TLIYQVTAID KDKGPNGEVT YVLQDDYGHF
EINPNSGNVI LKEAFNSDLS NIEYGVTILA KDGGKPSLST SVELPITIVN KAMPVFDKPF
YTASVNEDIR MNTPILSINA TSPEGQGIIY IIIDGDPFKQ FNIDFDTGVL KVVSPLDYEV
TSAYKLTIRA SDALTGARAE VTVDLLVNDV NDNPPIFDQP TYNTTLSEAS LIGTPVLQVV
SIDADSENNK MVHYQIVQDT YNSTDYFHID SSSGLILTAR MLDHELVQHC TLKVRSIDSG
FPSLSSEVLV HIYISDVNDN PPVFNQLIYE SYVSELAPRG HFVTCVQASD ADSSDFDRLE
YSILSGNDRT SFLMDSKSGV ITLSNHRKQR MEPLYSLNVS VSDGLFTSTA QVHIRVLGAN
LYSPAFSQST YVAEVRENVA AGTKVIHVRA TDGDPGTYGQ ISYAIINDFA KDRFLIDSNG
QVITTERLDR ENPLEGDVSI FVRALDGGGR TTFCTVRVIV VDENDNAPQF MTVEYRASVR
ADVGRGHLVT QVQAIDPDDG ANSRITYSLY SEASVSVADL LEIDPDNGWM VTKGNFNQLK
NTVLSFFVKA VDGGIPVKHS LIPVYIHVLP PETFLPSFTQ SQYSFTIAED TAIGSTVDTL
RILPSQNVWF STVNGERPEN NKGGIFVIEQ ETGTIKLDKR LDRETSPAFH FKVAATIPLD
KVDIVFTVDV DIKVLDLNDN KPVFETSSYD TIIMEGMPVG TKLTQVRAID MDWGANGQVT
YSLHSDSQPE KVMEAFNIDS NTGWISTLKD LDHETDPTFT FSVVASDLGE AFSLSSTALV
SVRVTDINDN APVFAQEVYR GNVKESDPPG EVVAVLSTWD RDTSDVNRQV SYHITGGNPR
GRFALGLVQS EWKVYVKRPL DREEQDIYFL NITATDGLFV TQAMVEVSVS DVNDNSPVCD
QVAYTALLPE DIPSNKIILK VSAKDADIGS NGYIRYSLYG SGNSEFFLDP ESGELKTLAL
LDRERIPVYS LMAKATDGGG RFCQSNIHLI LEDVNDNPPV FSSDHYNTCV YENTATKALL
TRVQAVDPDI GINRKVVYSL ADSAGGVFSI DSSSGIIILE QPLDREQQSS YNISVRATDQ
SPGQSLSSLT TVTITVLDIN DNPPVFERRD YLVTVPEDTS PGTQVLAVFA TSKDIGTNAE
ITYLIRSGNE QGKFKINPKT GGISVSEVLD YELCKRFYLV VEAKDGGTPA LSAVATVNIN
LTDVNDNPPK FSQDVYSAVI SEDALVGDSV ILLIAEDVDS QPNGQIHFSI VNGDRDNEFT
VDPVLGLVKV KKKLDRERVS GYSLLVQAVD SGIPAMSSTA TVNIDISDVN DNSPVFTPAN
YTAVIQENKP VGTSILQLVV TDRDSFHNGP PFSFSILSGN EEEEFVLDPH GILRSAVVFQ
HTESLEYVLC VQAKDSGKPQ QVSHTYIRVR VIEESTHKPT AIPLEIFIVT MEDDFPGGVI
GKIHATDQDM YDVLTFALKS EQKSLFKVNS HDGKIIALGG LDSGKYVLNV SVSDGRFQVP
IDVVVHVEQL VHEMLQNTVT IRFENVSPED FVGLHMHGFR RTLRNAVLTQ KQDSLRIISI
QPVAGTNQLD MLFAVEMHSS EFYKPAYLIQ KLSNARRHLE NIMRISAILE KNCSGLDCQE
QHCEQGLSLD SHALMTYSTA RISFVCPRFY RNVRCTCNGG LCPGSNDPCV EKPCPGDMQC
VSYEASRRPF LCQCPPGKLG ECSGHTSLSF AGNSYIKYRL SENSKEEDFK LALRLRTLQS
NGIIMYTRAN PCIILKIVDG KLWFQLDCGS GPGILGISGR AVNDGSWHSV FLELNRNFTS
LSLDDSYVER RRAPLYFQTL STESSIYFGA LVQADNIRSL TDTRVTQVLS GFQGCLDSVI
LNNNELPLQN KRSSFAEVVG LTELKLGCVL YPDACKRSPC QHGGSCTGLP SGGYQCTCLS
QFTGRNCESE ITACFPNPCR NGGSCDPIGN TFICNCKAGL TGVTCEEDIN ECEREECENG
GSCVNVFGSF LCNCTPGYVG QYCGLRPVVV PNIQAGHSYV GKEELIGIAV VLFVIFILVV
LFIVFRKKVF RKNYSRNNIT LVQDPATAAL LNKSNGIPFR NLRGSGDGRN VYQEVGPPQV
PVRPMAYTPC FQSDSRSNLD KIVDGLGGEH QEMTTFHPES PRILTARRGV VVCSVAPNLP
AVSPCRSDCD SIRKNGWDAG TENKGVDDPG EVTCFAGSNK GSNSEVQSLS SFQSDSGDDN
ASIVTVIQLV NNVVDTIENE VSVMDQGQNY NRAYHWDTSD WMPGARLSDI EEVPNYENQD
GGSAHQGSTR ELESDYYLGG YDIDSEYPPP HEEEFLSQDQ LPPPLPEDFP DQYEALPPSQ
PVSLASTLSP DCRRRPQFHP SQYLPPHPFP NETDLVGPPA SCEFSTFAVS MNQGTEPTGP
ADSVSLSLHN SRGTSSSDVS ANCGFDDSEV AMSDYESVGE LSLASLHIPF VETQHQTQV*

mutated AA sequence

MNDLRPLFSP TTYSVTIAES TPLRTSVAQV TATDADIGSN GEFYYYFKNK VDLFSVHPTS
GVISLSGRLN YDEKNRYDLE ILAVDRGMKL YGNNGVSSTA KLYVHIERIN EHAPTIHVVT
HVPFSLEKEP TYAVVTVDDL DDGANGEIES VSIVAGDPLD QFFLAKEGKW LNEYKIKERK
QIDWESFPYG YNLTLQAKDK GSPQKCSALK AVYIGNPTRD TVPIRFEKEV YDVSISEFSP
PGVVVAIVKL SPEPIDVEYK LSPGEDAVYF KINPRSGLIV TARPLNTVKK EVYKLEVTNK
EGDLKAQVTI SIEDANDHTP EFQQPLYDAY VNESVPVGTS VLTVSASDKD KGENGYITYS
IASLNLLPFV INQFTGVIST TEELDFESSP EIYRFIVRAS DWGSPYRHES EVNVTIRIGN
VNDNSPLFEK VACQGVISYD FPVGGHITAV SAIDIDELEL VKYKIISGNE LGFFYLNPDS
GVLQLKKSLT NSGIKNGNFA LRITATDGEN LADPMSINIS VLHGKVSSKS FSCRETRVAQ
KLAEKLLIKA KANGKLNLED GFLDFYSINR QGPYFDKSFP SDVAVKEDLP VGANILKIKA
YDADSGFNGK VLFTISDGNT DSCFNIDMET GQLKVLMPMD REHTDLYLLN ITIYDLGNPQ
KSSWRLLTIN VEDANDNSPV FIQDSYSVNI LESSGIGTEI IQVEARDKDL GSNGEVTYSV
LTDTQQFAIN SSTGIVYVAD QLDRESKANY SLKIEARDKA ESGQQLFSVV TLKVFLDDVN
DCSPAFIPSS YSVKVLEDLP VGTVIAWLET HDPDLGLGGQ VRYSLVNDYN GRFEIDKASG
AIRLSKELDY EKQQFYNLTV RAKDKGRPVS LSSVSFVEVE VVDVNENLHT PYFPDFAVVG
SVKENSRIGT SVLQVTARDE DSGRDGEIQY SIRDGSGLGR FSIDDESGVI TAADILDRET
MGSYWLTVYA TDRGVVPLYS TIEVYIEVED VNDNAPLTSE PIYYPVVMEN SPKDVSVIQI
QAEDPDSSSN EKLTYRITSG NPQNFFAINI KTGLITTTSR KLDREQQAEH FLEVTVTDGG
PSPKQSTIWV VVQVLDENDN KPQFPEKVYQ IKLPERDRKK RGEPIYRAFA FDRDEGPNAE
ISYSIVDGND DGKFFIDPKT GMVSSRKQFT AGSYDILTIK AVDNGRPQKS STARLHIEWI
KKPPPSPIPL TFDEPFYNFT VMESDRVTEI VGVVSVQPAN TPLWFDIVGG NFDSAFDAEK
GVGTIVIAKP LDAEQRSIYN MSVEVTDGTN VAVTQVFIKV LDNNDNGPEF SQPNYDVTIS
EDVLPDTEIL QIEATDRDEK HKLSYTVHSS IDSISMRKFR IDPSTGVLYT AERLDHEAQD
KHILNIMVRD QEFPYRRNLA RVIVNVEDAN DHSPYFTNPL YEASVFESAA LGSAVLQVTA
LDKDKGENAE LIYTIEAGNT GNMFKIEPVL GIITICKEPD MTTMGQFVLS IKVTDQGSPP
MSATAIVRIS VTMSDNSHPK FIHKDYQAEV NENVDIGTSV ILISAISQST LIYEVKDGDI
NGIFTINPYS GVITTQKALD YERTSSYQLI IQATNMAGMA SNATVNIQIV DENDNAPVFL
FSQYSGSLSE AAPINSIVRS LDNSPLVIRA TDADSNRNAL LVYQIVESTA KKFFTVDSST
GAIRTIANLD HETIAHFHFH VHVRDSGSPQ LTAESPVEVN IEVTDVNDNP PVFTQAVFET
ILLLPTYVGV EVLKVSATDP DSEVPPELTY SLMEGSLDHF LIDSNSGVLT IKNNNLSKDH
YMLIVKVSDG KFYSTSMVTI MVKEAMDSGL HFTQSFYSTS ISENNTNITK VAIVNAVGNR
LNEPLKYSIL NPGNKFKIKS TSGVIQTTGV PFDREEQELY ELVVEASREL DHLRVARVVV
RVNIEDINDN SPVFVGLPYY AAVQVDAEPG TLIYQVTAID KDKGPNGEVT YVLQDDYGHF
EINPNSGNVI LKEAFNSDLS NIEYGVTILA KDGGKPSLST SVELPITIVN KAMPVFDKPF
YTASVNEDIR MNTPILSINA TSPEGQGIIY IIIDGDPFKQ FNIDFDTGVL KVVSPLDYEV
TSAYKLTIRA SDALTGARAE VTVDLLVNDV NDNPPIFDQP TYNTTLSEAS LIGTPVLQVV
SIDADSENNK MVHYQIVQDT YNSTDYFHID SSSGLILTAR MLDHELVQHC TLKVRSIDSG
FPSLSSEVLV HIYISDVNDN PPVFNQLIYE SYVSELAPRG HFVTCVQASD ADSSDFDRLE
YSILSGNDRT SFLMDSKSGV ITLSNHRKQR MEPLYSLNVS VSDGLFTSTA QVHIRVLGAN
LYSPAFSQST YVAEVRENVA AGTKVIHVRA TDGDPGTYGQ ISYAIINDFA KDRFLIDSNG
QVITTERLDR ENPLEGDVSI FVRALDGGGR TTFCTVRVIV VDENDNAPQF MTVEYRASVR
ADVGRGHLVT QVQAIDPDDG ANSRITYSLY SEASVSVADL LEIDPDNGWM VTKGNFNQLK
NTVLSFFVKA VDGGIPVKHS LIPVYIHVLP PETFLPSFTQ SQYSFTIAED TAIGSTVDTL
RILPSQNVWF STVNGERPEN NKGGIFVIEQ ETGTIKLDKR LDRETSPAFH FKVAATIPLD
KVDIVFTVDV DIKVLDLNDN KPVFETSSYD TIIMEGMPVG TKLTQVRAID MDWGANGQVT
YSLHSDSQPE KVMEAFNIDS NTGWISTLKD LDHETDPTFT FSVVASDLGE AFSLSSTALV
SVRVTDINDN APVFAQEVYR GNVKESDPPG EVVAVLSTWD RDTSDVNRQV SYHITGGNPR
GRFALGLVQS EWKVYVKRPL DREEQDIYFL NITATDGLFV TQAMVEVSVS DVNDNSPVCD
QVAYTALLPE DIPSNKIILK VSAKDADIGS NGYIRYSLYG SGNSEFFLDP ESGELKTLAL
LDRERIPVYS LMAKATDGGG RFCQSNIHLI LEDVNDNPPV FSSDHYNTCV YENTATKALL
TRVQAVDPDI GINRKVVYSL ADSAGGVFSI DSSSGIIILE QPLDREQQSS YNISVRATDQ
SPGQSLSSLT TVTITVLDIN DNPPVFERRD YLVTVPEDTS PGTQVLAVFA TSKDIGTNAE
ITYLIRSGNE QGKFKINPKT GGISVSEVLD YELCKRFYLV VEAKDGGTPA LSAVATVNIN
LTDVNDNPPK FSQDVYSAVI SEDALVGDSV ILLIAEDVDS QPNGQIHFSI VNGDRDNEFT
VDPVLGLVKV KKKLDRERVS GYSLLVQAVD SGIPAMSSTA TVNIDISDVN DNSPVFTPAN
YTAVIQENKP VGTSILQLVV TDRDSFHNGP PFSFSILSGN EEEEFVLDPH GILRSAVVFQ
HTESLEYLLC VQAKDSGKPQ QVSHTYIRVR VIEESTHKPT AIPLEIFIVT MEDDFPGGVI
GKIHATDQDM YDVLTFALKS EQKSLFKVNS HDGKIIALGG LDSGKYVLNV SVSDGRFQVP
IDVVVHVEQL VHEMLQNTVT IRFENVSPED FVGLHMHGFR RTLRNAVLTQ KQDSLRIISI
QPVAGTNQLD MLFAVEMHSS EFYKPAYLIQ KLSNARRHLE NIMRISAILE KNCSGLDCQE
QHCEQGLSLD SHALMTYSTA RISFVCPRFY RNVRCTCNGG LCPGSNDPCV EKPCPGDMQC
VSYEASRRPF LCQCPPGKLG ECSGHTSLSF AGNSYIKYRL SENSKEEDFK LALRLRTLQS
NGIIMYTRAN PCIILKIVDG KLWFQLDCGS GPGILGISGR AVNDGSWHSV FLELNRNFTS
LSLDDSYVER RRAPLYFQTL STESSIYFGA LVQADNIRSL TDTRVTQVLS GFQGCLDSVI
LNNNELPLQN KRSSFAEVVG LTELKLGCVL YPDACKRSPC QHGGSCTGLP SGGYQCTCLS
QFTGRNCESE ITACFPNPCR NGGSCDPIGN TFICNCKAGL TGVTCEEDIN ECEREECENG
GSCVNVFGSF LCNCTPGYVG QYCGLRPVVV PNIQAGHSYV GKEELIGIAV VLFVIFILVV
LFIVFRKKVF RKNYSRNNIT LVQDPATAAL LNKSNGIPFR NLRGSGDGRN VYQEVGPPQV
PVRPMAYTPC FQSDSRSNLD KIVDGLGGEH QEMTTFHPES PRILTARRGV VVCSVAPNLP
AVSPCRSDCD SIRKNGWDAG TENKGVDDPG EVTCFAGSNK GSNSEVQSLS SFQSDSGDDN
ASIVTVIQLV NNVVDTIENE VSVMDQGQNY NRAYHWDTSD WMPGARLSDI EEVPNYENQD
GGSAHQGSTR ELESDYYLGG YDIDSEYPPP HEEEFLSQDQ LPPPLPEDFP DQYEALPPSQ
PVSLASTLSP DCRRRPQFHP SQYLPPHPFP NETDLVGPPA SCEFSTFAVS MNQGTEPTGP
ADSVSLSLHN SRGTSSSDVS ANCGFDDSEV AMSDYESVGE LSLASLHIPF VETQHQTQV*

speed

1.10 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