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

ENST00000298047

Genbank transcript ID

N/A

UniProt peptide

Q8TDW7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.10552G>T
cDNA.10569G>T
g.488650G>T

AA changes

V3518L Score: 32 explain score(s)

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

3518

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

3518

mutated

all conserved

3518

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
3447	3551	DOMAIN	Cadherin 32.	lost
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

13770 / 13770

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

4590 / 4590

position of stopcodon in wt / mu cDNA

13787 / 13787

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

18 / 18

chromosome

strand

last intron/exon boundary

13165

theoretical NMD boundary in CDS

13097

length of CDS

13770

coding sequence (CDS) position

10552

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

10569

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

MDIIMGHCVG TRPPACCLIL LLFKLLATVS QGLPGTGPLG FHFTHSIYNA TVYENSAART
YVNSQSRMGI TLIDLSWDIK YRIVSGDEEG FFKAEEVIIA DFCFLRIRTK GGNSAILNRE
IQDNYLLIVK GSVRGEDLEA WTKVNIQVLD 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

MDIIMGHCVG TRPPACCLIL LLFKLLATVS QGLPGTGPLG FHFTHSIYNA TVYENSAART
YVNSQSRMGI TLIDLSWDIK YRIVSGDEEG FFKAEEVIIA DFCFLRIRTK GGNSAILNRE
IQDNYLLIVK GSVRGEDLEA WTKVNIQVLD 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

1.13 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