Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99997276566877 (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) chr11:19854088G>AN/A show variant in all transcripts   IGV
HGNC symbol NAV2
Ensembl transcript ID ENST00000396087
Genbank transcript ID N/A
UniProt peptide Q8IVL1
alteration type single base exchange
alteration region CDS
DNA changes c.326G>A
cDNA.425G>A
g.481818G>A
AA changes R109K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 109
frameshift no
known variant Reference ID: rs6483617
databasehomozygous (A/A)heterozygousallele carriers
1000G48110701551
ExAC80891658924678
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.3941
2.6391
(flanking)3.4371
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained4818130.75mu: CGTCTCATCAAGGAT TCTC|atca
Donor gained4818140.39mu: GTCTCATCAAGGATC CTCA|tcaa
distance from splice site 59
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      109YLAKSGHKRLIRDLQQDVTDGVLL
mutated  all conserved    109YLAKSGHKRLIKDLQQDVTDGVL
Ptroglodytes  all conserved  ENSPTRG00000003436  109YLAKSGHKRLIKDLQQDVTDGVL
Mmulatta  all conserved  ENSMMUG00000016942  109YLAKSGHKRLIKDLQQDVTDGVL
Fcatus  all conserved  ENSFCAG00000001793  109YLAKSGHKRLIKDLQQDVTDGVL
Mmusculus  all conserved  ENSMUSG00000052512  109YLAKSGHKRLIKDLQQDVTDGVL
Ggallus  all conserved  ENSGALG00000003999  109YLAKSGHKRLIKDLQQDVTDGVL
Trubripes  all conserved  ENSTRUG00000015822  21YLAKSGHKRLIKDLQTDVTDGVL
Drerio  all conserved  ENSDARG00000073688  93YLAKSGHKRLIKDLQQDVSDGVL
Dmelanogaster  no alignment  FBgn0260966  n/a
Celegans  all identical  F45E10.1  30HLSKGSLSKSIRDISNDFRDYRL
Xtropicalis  all conserved  ENSXETG00000014194  108YLAKSGHKRLIKDLQQDVTDGVL
protein features
start (aa)end (aa)featuredetails 
85192DOMAINCH.lost
111114HELIXmight get lost (downstream of altered splice site)
115118STRANDmight get lost (downstream of altered splice site)
119128HELIXmight get lost (downstream of altered splice site)
145159HELIXmight get lost (downstream of altered splice site)
169174HELIXmight get lost (downstream of altered splice site)
177191HELIXmight get lost (downstream of altered splice site)
192255COMPBIASGln-rich.might get lost (downstream of altered splice site)
259259CONFLICTS -> P (in Ref. 1; AAL96479/AAL96480 and 4; BAA92657).might get lost (downstream of altered splice site)
282282CONFLICTP -> S (in Ref. 3; CAD32471).might get lost (downstream of altered splice site)
324328COMPBIASPoly-Pro.might get lost (downstream of altered splice site)
498531COILEDPotential.might get lost (downstream of altered splice site)
633638COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
743771COILEDPotential.might get lost (downstream of altered splice site)
10461046CONFLICTT -> M (in Ref. 7; BAB85038).might get lost (downstream of altered splice site)
11731173CONFLICTG -> D (in Ref. 7; BAB85038).might get lost (downstream of altered splice site)
13631683COMPBIASSer-rich.might get lost (downstream of altered splice site)
14801480MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14841484MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14881488MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16861773COILEDPotential.might get lost (downstream of altered splice site)
17031703MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18241829COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
18451845CONFLICTMissing (in Ref. 8; AAH16054).might get lost (downstream of altered splice site)
18971964COILEDPotential.might get lost (downstream of altered splice site)
19391939CONFLICTM -> V (in Ref. 7; BAB85038).might get lost (downstream of altered splice site)
19771977MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
20122012CONFLICTE -> G (in Ref. 7; BAA91965).might get lost (downstream of altered splice site)
20532053CONFLICTV -> A (in Ref. 7; BAA91723).might get lost (downstream of altered splice site)
20752075CONFLICTL -> V (in Ref. 7; BAB85038).might get lost (downstream of altered splice site)
21572164NP_BINDATP (Potential).might get lost (downstream of altered splice site)
22962296CONFLICTK -> E (in Ref. 7; BAA91965).might get lost (downstream of altered splice site)
22992299CONFLICTE -> K (in Ref. 7; BAB85038).might get lost (downstream of altered splice site)
23952395CONFLICTM -> V (in Ref. 7; BAA91723).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 7467 / 7467
position (AA) of stopcodon in wt / mu AA sequence 2489 / 2489
position of stopcodon in wt / mu cDNA 7566 / 7566
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 100 / 100
chromosome 11
strand 1
last intron/exon boundary 7441
theoretical NMD boundary in CDS 7291
length of CDS 7467
coding sequence (CDS) position 326
cDNA position
(for ins/del: last normal base / first normal base)		 425
gDNA position
(for ins/del: last normal base / first normal base)		 481818
chromosomal position
(for ins/del: last normal base / first normal base)		 19854088
original gDNA sequence snippet CGGCCACAAGCGTCTCATCAGGGATCTCCAGCAAGATGTGA
altered gDNA sequence snippet CGGCCACAAGCGTCTCATCAAGGATCTCCAGCAAGATGTGA
original cDNA sequence snippet CGGCCACAAGCGTCTCATCAGGGATCTCCAGCAAGATGTGA
altered cDNA sequence snippet CGGCCACAAGCGTCTCATCAAGGATCTCCAGCAAGATGTGA
wildtype AA sequence MPAILVASKM KSGLPKPVHS AAPILHVPPA RAGPQPCYLK LGSKVEVSKT TYPSQIPLKS
QVLQGLQEPA GEGLPLRKSG SVENGFDTQI YTDWANHYLA KSGHKRLIRD LQQDVTDGVL
LAQIIQVVAN EKIEDINGCP KNRSQMIENI DACLNFLAAK GINIQGLSAE EIRNGNLKAI
LGLFFSLSRY KQQQQQPQKQ HLSSPLPPAV SQVAGAPSQC QAGTPQQQVP VTPQAPCQPH
QPAPHQQSKA QAEMQSSASS KDSSQSKIIR FTLGQKKISR LPGPTARVSA AGSEAKTRGG
STTANNRRSQ SFNNYDKSKP VTSPPPPPSS HEKEPLASSA SSHPGMSDNA PASLESGSSS
TPTNCSTSSA IPQPGAATKP WRSKSLSVKH SATVSMLSVK PPGPEAPRPT PEAMKPAPNN
QKSMLEKLKL FNSKGGSKAG EGPGSRDTSC ERLETLPSFE ESEELEAASR MLTTVGPASS
SPKIALKGIA QRTFSRALTN KKSSLKGNEK EKEKQQREKD KEKSKDLAKR ASVTERLDLK
EEPKEDPSGA AVPEMPKKSS KIASFIPKGG KLNSAKKEPM APSHSGIPKP GMKSMPGKSP
SAPAPSKEGE RSRSGKLSSG LPQQKPQLDG RHSSSSSSLA SSEGKGPGGT TLNHSISSQT
VSGSVGTTQT TGSNTVSVQL PQPQQQYNHP NTATVAPFLY RSQTDTEGNV TAESSSTGVS
VEPSHFTKTG QPALEELTGE DPEARRLRTV KNIADLRQNL EETMSSLRGT QVTHSTLETT
FDTNVTTEMS GRSILSLTGR PTPLSWRLGQ SSPRLQAGDA PSMGNGYPPR ANASRFINTE
SGRYVYSAPL RRQLASRGSS VCHVDVSDKA GDEMDLEGIS MDAPGYMSDG DVLSKNIRTD
DITSGYMTDG GLGLYTRRLN RLPDGMAVVR ETLQRNTSLG LGDADSWDDS SSVSSGISDT
IDNLSTDDIN TSSSISSYAN TPASSRKNLD VQTDAEKHSQ VERNSLWSGD DVKKSDGGSD
SGIKMEPGSK WRRNPSDVSD ESDKSTSGKK NPVISQTGSW RRGMTAQVGI TMPRTKPSAP
AGALKTPGTG KTDDAKVSEK GRLSPKASQV KRSPSDAGRS SGDESKKPLP SSSRTPTANA
NSFGFKKQSG SAAGLAMITA SGVTVTSRSA TLGKIPKSSA LVSRSAGRKS SMDGAQNQDD
GYLALSSRTN LQYRSLPRPS KSNSRNGAGN RSSTSSIDSN ISSKSAGLPV PKLREPSKTA
LGSSLPGLVN QTDKEKGISS DNESVASCNS VKVNPAAQPV SSPAQTSLQP GAKYPDVASP
TLRRLFGGKP TKQVPIATAE NMKNSVVISN PHATMTQQGN LDSPSGSGVL SSGSSSPLYS
KNVDLNQSPL ASSPSSAHSA PSNSLTWGTN ASSSSAVSKD GLGFQSVSSL HTSCESIDIS
LSSGGVPSHN SSTGLIASSK DDSLTPFVRT NSVKTTLSES PLSSPAASPK FCRSTLPRKQ
DSDPHLDRNT LPKKGLRYTP TSQLRTQEDA KEWLRSHSAG GLQDTAANSP FSSGSSVTSP
SGTRFNFSQL ASPTTVTQMS LSNPTMLRTH SLSNADGQYD PYTDSRFRNS SMSLDEKSRT
MSRSGSFRDG FEEESWEKSS VDNFVSRLHS SLHFSLPLFH HARYELVHGS SLSLVSSTSS
VYSTPEEKCQ SEIRKLRREL DASQEKVSAL TTQLTANAHL VAAFEQSLGN MTIRLQSLTM
TAEQKDSELN ELRKTIELLK KQNAAAQAAI NGVINTPELN CKGNGTAQSA DLRIRRQHSS
DSVSSINSAT SHSSVGSNIE SDSKKKKRKN WVNELRSSFK QAFGKKKSPK SASSHSDIEE
MTDSSLPSSP KLPHNGSTGS TPLLRNSHSN SLISECMDSE AETVMQLRNE LRDKEMKLTD
IRLEALSSAH QLDQLREAMN RMQSEIEKLK AENDRLKSES QGSGCSRAPS QVSISASPRQ
SMGLSQHSLN LTESTSLDML LDDTGECSAR KEGGRHVKIV VSFQEEMKWK EDSRPHLFLI
GCIGVSGKTK WDVLDGVVRR LFKEYIIHVD PVSQLGLNSD SVLGYSIGEI KRSNTSETPE
LLPCGYLVGE NTTISVTVKG LAENSLDSLV FESLIPKPIL QRYVSLLIEH RRIILSGPSG
TGKTYLANRL SEYIVLREGR ELTDGVIATF NVDHKSSKEL RQYLSNLADQ CNSENNAVDM
PLVIILDNLH HVSSLGEIFN GLLNCKYHKC PYIIGTMNQA TSSTPNLQLH HNFRWVLCAN
HTEPVKGFLG RFLRRKLMET EISGRVRNME LVKIIDWIPK VWHHLNRFLE AHSSSDVTIG
PRLFLSCPID VDGSRVWFTD LWNYSIIPYL LEAVREGLQL YGRRAPWEDP AKWVMDTYPW
AASPQQHEWP PLLQLRPEDV GFDGYSMPRE GSTSKQMPPS DAEGDPLMNM LMRLQEAANY
SSPQSYDSDS NSNSHHDDIL DSSLESTL*
mutated AA sequence MPAILVASKM KSGLPKPVHS AAPILHVPPA RAGPQPCYLK LGSKVEVSKT TYPSQIPLKS
QVLQGLQEPA GEGLPLRKSG SVENGFDTQI YTDWANHYLA KSGHKRLIKD LQQDVTDGVL
LAQIIQVVAN EKIEDINGCP KNRSQMIENI DACLNFLAAK GINIQGLSAE EIRNGNLKAI
LGLFFSLSRY KQQQQQPQKQ HLSSPLPPAV SQVAGAPSQC QAGTPQQQVP VTPQAPCQPH
QPAPHQQSKA QAEMQSSASS KDSSQSKIIR FTLGQKKISR LPGPTARVSA AGSEAKTRGG
STTANNRRSQ SFNNYDKSKP VTSPPPPPSS HEKEPLASSA SSHPGMSDNA PASLESGSSS
TPTNCSTSSA IPQPGAATKP WRSKSLSVKH SATVSMLSVK PPGPEAPRPT PEAMKPAPNN
QKSMLEKLKL FNSKGGSKAG EGPGSRDTSC ERLETLPSFE ESEELEAASR MLTTVGPASS
SPKIALKGIA QRTFSRALTN KKSSLKGNEK EKEKQQREKD KEKSKDLAKR ASVTERLDLK
EEPKEDPSGA AVPEMPKKSS KIASFIPKGG KLNSAKKEPM APSHSGIPKP GMKSMPGKSP
SAPAPSKEGE RSRSGKLSSG LPQQKPQLDG RHSSSSSSLA SSEGKGPGGT TLNHSISSQT
VSGSVGTTQT TGSNTVSVQL PQPQQQYNHP NTATVAPFLY RSQTDTEGNV TAESSSTGVS
VEPSHFTKTG QPALEELTGE DPEARRLRTV KNIADLRQNL EETMSSLRGT QVTHSTLETT
FDTNVTTEMS GRSILSLTGR PTPLSWRLGQ SSPRLQAGDA PSMGNGYPPR ANASRFINTE
SGRYVYSAPL RRQLASRGSS VCHVDVSDKA GDEMDLEGIS MDAPGYMSDG DVLSKNIRTD
DITSGYMTDG GLGLYTRRLN RLPDGMAVVR ETLQRNTSLG LGDADSWDDS SSVSSGISDT
IDNLSTDDIN TSSSISSYAN TPASSRKNLD VQTDAEKHSQ VERNSLWSGD DVKKSDGGSD
SGIKMEPGSK WRRNPSDVSD ESDKSTSGKK NPVISQTGSW RRGMTAQVGI TMPRTKPSAP
AGALKTPGTG KTDDAKVSEK GRLSPKASQV KRSPSDAGRS SGDESKKPLP SSSRTPTANA
NSFGFKKQSG SAAGLAMITA SGVTVTSRSA TLGKIPKSSA LVSRSAGRKS SMDGAQNQDD
GYLALSSRTN LQYRSLPRPS KSNSRNGAGN RSSTSSIDSN ISSKSAGLPV PKLREPSKTA
LGSSLPGLVN QTDKEKGISS DNESVASCNS VKVNPAAQPV SSPAQTSLQP GAKYPDVASP
TLRRLFGGKP TKQVPIATAE NMKNSVVISN PHATMTQQGN LDSPSGSGVL SSGSSSPLYS
KNVDLNQSPL ASSPSSAHSA PSNSLTWGTN ASSSSAVSKD GLGFQSVSSL HTSCESIDIS
LSSGGVPSHN SSTGLIASSK DDSLTPFVRT NSVKTTLSES PLSSPAASPK FCRSTLPRKQ
DSDPHLDRNT LPKKGLRYTP TSQLRTQEDA KEWLRSHSAG GLQDTAANSP FSSGSSVTSP
SGTRFNFSQL ASPTTVTQMS LSNPTMLRTH SLSNADGQYD PYTDSRFRNS SMSLDEKSRT
MSRSGSFRDG FEEESWEKSS VDNFVSRLHS SLHFSLPLFH HARYELVHGS SLSLVSSTSS
VYSTPEEKCQ SEIRKLRREL DASQEKVSAL TTQLTANAHL VAAFEQSLGN MTIRLQSLTM
TAEQKDSELN ELRKTIELLK KQNAAAQAAI NGVINTPELN CKGNGTAQSA DLRIRRQHSS
DSVSSINSAT SHSSVGSNIE SDSKKKKRKN WVNELRSSFK QAFGKKKSPK SASSHSDIEE
MTDSSLPSSP KLPHNGSTGS TPLLRNSHSN SLISECMDSE AETVMQLRNE LRDKEMKLTD
IRLEALSSAH QLDQLREAMN RMQSEIEKLK AENDRLKSES QGSGCSRAPS QVSISASPRQ
SMGLSQHSLN LTESTSLDML LDDTGECSAR KEGGRHVKIV VSFQEEMKWK EDSRPHLFLI
GCIGVSGKTK WDVLDGVVRR LFKEYIIHVD PVSQLGLNSD SVLGYSIGEI KRSNTSETPE
LLPCGYLVGE NTTISVTVKG LAENSLDSLV FESLIPKPIL QRYVSLLIEH RRIILSGPSG
TGKTYLANRL SEYIVLREGR ELTDGVIATF NVDHKSSKEL RQYLSNLADQ CNSENNAVDM
PLVIILDNLH HVSSLGEIFN GLLNCKYHKC PYIIGTMNQA TSSTPNLQLH HNFRWVLCAN
HTEPVKGFLG RFLRRKLMET EISGRVRNME LVKIIDWIPK VWHHLNRFLE AHSSSDVTIG
PRLFLSCPID VDGSRVWFTD LWNYSIIPYL LEAVREGLQL YGRRAPWEDP AKWVMDTYPW
AASPQQHEWP PLLQLRPEDV GFDGYSMPRE GSTSKQMPPS DAEGDPLMNM LMRLQEAANY
SSPQSYDSDS NSNSHHDDIL DSSLESTL*
speed 0.63 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