Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 3 transcript(s)...
Querying Taster for transcript #1: ENST00000525166
Querying Taster for transcript #2: ENST00000298047
Querying Taster for transcript #3: ENST00000409404
MT speed 0 s - this script 4.376096 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FAT3polymorphism_automatic0.00148168643576296simple_aaeaffectedV3368Lsingle base exchangers10765565show file
FAT3polymorphism_automatic0.00148168643576296simple_aaeaffectedV3518Lsingle base exchangers10765565show file
FAT3polymorphism_automatic0.00148168643576296simple_aaeaffectedV3518Lsingle base exchangers10765565show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

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 no
known variant Reference ID: rs10765565
databasehomozygous (T/T)heterozygousallele carriers
1000G30410121316
ExAC88481507123919
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5930.322
0.480.463
(flanking)3.1780.975
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased488658wt: 0.41 / mu: 0.72wt: TCTCTGGAATACGTGTTGTGTGTCCAGGTATGGCATCGCAC
mu: TCTCTGGAATACTTGTTGTGTGTCCAGGTATGGCATCGCAC		 gtgt|GTCC
Donor marginally increased488651wt: 0.7586 / mu: 0.7825 (marginal change - not scored)wt: ATACGTGTTGTGTGT
mu: ATACTTGTTGTGTGT		 ACGT|gttg
Acc gained4886560.71mu: AGTCTCTGGAATACTTGTTGTGTGTCCAGGTATGGCATCGC ttgt|GTGT
distance from splice site 15
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      3368VVFQHTESLEYVLCVQAKDSGKPQ
mutated  all conserved    3368HTESLEYLLCVQAKDSGKP
Ptroglodytes  all identical  ENSPTRG00000004168  3518HTESLEYVLCVQAKDSGKP
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000074505  3513HMESPEYLLCIQAKDSGKP
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0261574  3571SRFNHNLQDEFVIQVRVFDNGTP
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000017133  2295VVFQHTISDEHLLCVQVKDSGKP
protein features
start (aa)end (aa)featuredetails 
334154TOPO_DOMExtracellular (Potential).lost
33423446DOMAINCadherin 31.lost
34473551DOMAINCadherin 32.might get lost (downstream of altered splice site)
34503450CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
35523653DOMAINCadherin 33.might get lost (downstream of altered splice site)
36193619CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
37423742CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
37953833DOMAINEGF-like 1.might get lost (downstream of altered splice site)
37993799DISULFIDBy similarity.might get lost (downstream of altered splice site)
38043804DISULFIDBy similarity.might get lost (downstream of altered splice site)
38103810DISULFIDBy similarity.might get lost (downstream of altered splice site)
38223822DISULFIDBy similarity.might get lost (downstream of altered splice site)
38243824DISULFIDBy similarity.might get lost (downstream of altered splice site)
38323832DISULFIDBy similarity.might get lost (downstream of altered splice site)
38354018DOMAINLaminin G-like.might get lost (downstream of altered splice site)
39273927CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
39853985DISULFIDBy similarity.might get lost (downstream of altered splice site)
40184018DISULFIDBy similarity.might get lost (downstream of altered splice site)
40214058DOMAINEGF-like 2.might get lost (downstream of altered splice site)
40254025DISULFIDBy similarity.might get lost (downstream of altered splice site)
40304030DISULFIDBy similarity.might get lost (downstream of altered splice site)
40364036DISULFIDBy similarity.might get lost (downstream of altered splice site)
40464046DISULFIDBy similarity.might get lost (downstream of altered splice site)
40484048DISULFIDBy similarity.might get lost (downstream of altered splice site)
40574057DISULFIDBy similarity.might get lost (downstream of altered splice site)
40604096DOMAINEGF-like 3.might get lost (downstream of altered splice site)
40644064DISULFIDBy similarity.might get lost (downstream of altered splice site)
40694069DISULFIDBy similarity.might get lost (downstream of altered splice site)
40754075DISULFIDBy similarity.might get lost (downstream of altered splice site)
40844084DISULFIDBy similarity.might get lost (downstream of altered splice site)
40864086DISULFIDBy similarity.might get lost (downstream of altered splice site)
40954095DISULFIDBy similarity.might get lost (downstream of altered splice site)
40984134DOMAINEGF-like 4; calcium-binding (Potential).might get lost (downstream of altered splice site)
41024102DISULFIDBy similarity.might get lost (downstream of altered splice site)
41074107DISULFIDBy similarity.might get lost (downstream of altered splice site)
41134113DISULFIDBy similarity.might get lost (downstream of altered splice site)
41224122DISULFIDBy similarity.might get lost (downstream of altered splice site)
41244124DISULFIDBy similarity.might get lost (downstream of altered splice site)
41334133DISULFIDBy similarity.might get lost (downstream of altered splice site)
41554175TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
41764589TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
44384509COMPBIASPro-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 11
strand 1
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 0.94 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

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 no
known variant Reference ID: rs10765565
databasehomozygous (T/T)heterozygousallele carriers
1000G30410121316
ExAC88481507123919
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5930.322
0.480.463
(flanking)3.1780.975
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased488658wt: 0.41 / mu: 0.72wt: TCTCTGGAATACGTGTTGTGTGTCCAGGTATGGCATCGCAC
mu: TCTCTGGAATACTTGTTGTGTGTCCAGGTATGGCATCGCAC		 gtgt|GTCC
Donor marginally increased488651wt: 0.7586 / mu: 0.7825 (marginal change - not scored)wt: ATACGTGTTGTGTGT
mu: ATACTTGTTGTGTGT		 ACGT|gttg
Acc gained4886560.71mu: AGTCTCTGGAATACTTGTTGTGTGTCCAGGTATGGCATCGC ttgt|GTGT
distance from splice site 15
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      3518VVFQHTESLEYVLCVQAKDSGKPQ
mutated  all conserved    3518VVFQHTESLEYLLCVQAKDSGKP
Ptroglodytes  all identical  ENSPTRG00000004168  3518VVFQHTESLEYVLCVQAKDSGKP
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000074505  3513VVFRHMESPEYLLCIQAKDSGKP
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0261574  3571SRFNHNLQDEFVIQVRVFDNGTP
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000017133  2295VVFQHTISDEHLLCVQVKDSGKP
protein features
start (aa)end (aa)featuredetails 
334154TOPO_DOMExtracellular (Potential).lost
34473551DOMAINCadherin 32.lost
35523653DOMAINCadherin 33.might get lost (downstream of altered splice site)
36193619CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
37423742CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
37953833DOMAINEGF-like 1.might get lost (downstream of altered splice site)
37993799DISULFIDBy similarity.might get lost (downstream of altered splice site)
38043804DISULFIDBy similarity.might get lost (downstream of altered splice site)
38103810DISULFIDBy similarity.might get lost (downstream of altered splice site)
38223822DISULFIDBy similarity.might get lost (downstream of altered splice site)
38243824DISULFIDBy similarity.might get lost (downstream of altered splice site)
38323832DISULFIDBy similarity.might get lost (downstream of altered splice site)
38354018DOMAINLaminin G-like.might get lost (downstream of altered splice site)
39273927CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
39853985DISULFIDBy similarity.might get lost (downstream of altered splice site)
40184018DISULFIDBy similarity.might get lost (downstream of altered splice site)
40214058DOMAINEGF-like 2.might get lost (downstream of altered splice site)
40254025DISULFIDBy similarity.might get lost (downstream of altered splice site)
40304030DISULFIDBy similarity.might get lost (downstream of altered splice site)
40364036DISULFIDBy similarity.might get lost (downstream of altered splice site)
40464046DISULFIDBy similarity.might get lost (downstream of altered splice site)
40484048DISULFIDBy similarity.might get lost (downstream of altered splice site)
40574057DISULFIDBy similarity.might get lost (downstream of altered splice site)
40604096DOMAINEGF-like 3.might get lost (downstream of altered splice site)
40644064DISULFIDBy similarity.might get lost (downstream of altered splice site)
40694069DISULFIDBy similarity.might get lost (downstream of altered splice site)
40754075DISULFIDBy similarity.might get lost (downstream of altered splice site)
40844084DISULFIDBy similarity.might get lost (downstream of altered splice site)
40864086DISULFIDBy similarity.might get lost (downstream of altered splice site)
40954095DISULFIDBy similarity.might get lost (downstream of altered splice site)
40984134DOMAINEGF-like 4; calcium-binding (Potential).might get lost (downstream of altered splice site)
41024102DISULFIDBy similarity.might get lost (downstream of altered splice site)
41074107DISULFIDBy similarity.might get lost (downstream of altered splice site)
41134113DISULFIDBy similarity.might get lost (downstream of altered splice site)
41224122DISULFIDBy similarity.might get lost (downstream of altered splice site)
41244124DISULFIDBy similarity.might get lost (downstream of altered splice site)
41334133DISULFIDBy similarity.might get lost (downstream of altered splice site)
41554175TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
41764589TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
44384509COMPBIASPro-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 11
strand 1
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 1.03 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

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 ENST00000409404
Genbank transcript ID NM_001008781
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 no
known variant Reference ID: rs10765565
databasehomozygous (T/T)heterozygousallele carriers
1000G30410121316
ExAC88481507123919
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5930.322
0.480.463
(flanking)3.1780.975
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased488658wt: 0.41 / mu: 0.72wt: TCTCTGGAATACGTGTTGTGTGTCCAGGTATGGCATCGCAC
mu: TCTCTGGAATACTTGTTGTGTGTCCAGGTATGGCATCGCAC		 gtgt|GTCC
Donor marginally increased488651wt: 0.7586 / mu: 0.7825 (marginal change - not scored)wt: ATACGTGTTGTGTGT
mu: ATACTTGTTGTGTGT		 ACGT|gttg
Acc gained4886560.71mu: AGTCTCTGGAATACTTGTTGTGTGTCCAGGTATGGCATCGC ttgt|GTGT
distance from splice site 15
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      3518VVFQHTESLEYVLCVQAKDSGKPQ
mutated  all conserved    3518VVFQHTESLEYLLCVQAKDSGKP
Ptroglodytes  all identical  ENSPTRG00000004168  3518VVFQHTESLEYVLCVQAKDSGKP
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000074505  3513VVFRHMESPEYLLCIQAKDSGKP
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0261574  3571SRFNHNLQDEFVIQVRVFDNGTP
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000017133  2295VVFQHTISDEHLLCVQVKDSGKP
protein features
start (aa)end (aa)featuredetails 
334154TOPO_DOMExtracellular (Potential).lost
34473551DOMAINCadherin 32.lost
35523653DOMAINCadherin 33.might get lost (downstream of altered splice site)
36193619CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
37423742CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
37953833DOMAINEGF-like 1.might get lost (downstream of altered splice site)
37993799DISULFIDBy similarity.might get lost (downstream of altered splice site)
38043804DISULFIDBy similarity.might get lost (downstream of altered splice site)
38103810DISULFIDBy similarity.might get lost (downstream of altered splice site)
38223822DISULFIDBy similarity.might get lost (downstream of altered splice site)
38243824DISULFIDBy similarity.might get lost (downstream of altered splice site)
38323832DISULFIDBy similarity.might get lost (downstream of altered splice site)
38354018DOMAINLaminin G-like.might get lost (downstream of altered splice site)
39273927CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
39853985DISULFIDBy similarity.might get lost (downstream of altered splice site)
40184018DISULFIDBy similarity.might get lost (downstream of altered splice site)
40214058DOMAINEGF-like 2.might get lost (downstream of altered splice site)
40254025DISULFIDBy similarity.might get lost (downstream of altered splice site)
40304030DISULFIDBy similarity.might get lost (downstream of altered splice site)
40364036DISULFIDBy similarity.might get lost (downstream of altered splice site)
40464046DISULFIDBy similarity.might get lost (downstream of altered splice site)
40484048DISULFIDBy similarity.might get lost (downstream of altered splice site)
40574057DISULFIDBy similarity.might get lost (downstream of altered splice site)
40604096DOMAINEGF-like 3.might get lost (downstream of altered splice site)
40644064DISULFIDBy similarity.might get lost (downstream of altered splice site)
40694069DISULFIDBy similarity.might get lost (downstream of altered splice site)
40754075DISULFIDBy similarity.might get lost (downstream of altered splice site)
40844084DISULFIDBy similarity.might get lost (downstream of altered splice site)
40864086DISULFIDBy similarity.might get lost (downstream of altered splice site)
40954095DISULFIDBy similarity.might get lost (downstream of altered splice site)
40984134DOMAINEGF-like 4; calcium-binding (Potential).might get lost (downstream of altered splice site)
41024102DISULFIDBy similarity.might get lost (downstream of altered splice site)
41074107DISULFIDBy similarity.might get lost (downstream of altered splice site)
41134113DISULFIDBy similarity.might get lost (downstream of altered splice site)
41224122DISULFIDBy similarity.might get lost (downstream of altered splice site)
41244124DISULFIDBy similarity.might get lost (downstream of altered splice site)
41334133DISULFIDBy similarity.might get lost (downstream of altered splice site)
41554175TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
41764589TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
44384509COMPBIASPro-rich.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 13674 / 13674
position (AA) of stopcodon in wt / mu AA sequence 4558 / 4558
position of stopcodon in wt / mu cDNA 13691 / 13691
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 11
strand 1
last intron/exon boundary 13069
theoretical NMD boundary in CDS 13001
length of CDS 13674
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 AYHWDTSDWM PGARLSDIEE VPNYENQDGG
SAHQGSTREL ESDYYLGGYD IDSEYPPPHE EEFLSQDQLP PPLPEDFPDQ YEALPPSQPV
SLASTLSPDC RRRPQFHPSQ YLPPHPFPNE TDLVGPPASC EFSTFAVSMN QGTEPTGPAD
SVSLSLHNSR GTSSSDVSAN CGFDDSEVAM SDYESVGELS LASLHIPFVE TQHQTQV*
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 AYHWDTSDWM PGARLSDIEE VPNYENQDGG
SAHQGSTREL ESDYYLGGYD IDSEYPPPHE EEFLSQDQLP PPLPEDFPDQ YEALPPSQPV
SLASTLSPDC RRRPQFHPSQ YLPPHPFPNE TDLVGPPASC EFSTFAVSMN QGTEPTGPAD
SVSLSLHNSR GTSSSDVSAN CGFDDSEVAM SDYESVGELS LASLHIPFVE TQHQTQV*
speed 1.27 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
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