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 ENST00000396085
Genbank transcript ID NM_182964
UniProt peptide Q8IVL1
alteration type single base exchange
alteration region CDS
DNA changes c.326G>A
cDNA.687G>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 7299 / 7299
position (AA) of stopcodon in wt / mu AA sequence 2433 / 2433
position of stopcodon in wt / mu cDNA 7660 / 7660
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 362 / 362
chromosome 11
strand 1
last intron/exon boundary 7535
theoretical NMD boundary in CDS 7123
length of CDS 7299
coding sequence (CDS) position 326
cDNA position
(for ins/del: last normal base / first normal base)		 687
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 QAEMQSRLPG PTARVSAAGS EAKTRGGSTT ANNRRSQSFN NYDKSKPVTS
PPPPPSSHEK EPLASSASSH PGMSDNAPAS LESGSSSTPT NCSTSSAIPQ PGAATKPWRS
KSLSVKHSAT VSMLSVKPPG PEAPRPTPEA MKPAPNNQKS MLEKLKLFNS KGGSKAGEGP
GSRDTSCERL ETLPSFEESE ELEAASRMLT TVGPASSSPK IALKGIAQRT FSRALTNKKS
SLKGNEKEKE KQQREKDKEK SKDLAKRASV TERLDLKEEP KEDPSGAAVP EMPKKSSKIA
SFIPKGGKLN SAKKEPMAPS HSGIPKPGMK SMPGKSPSAP APSKEGERSR SGKLSSGLPQ
QKPQLDGRHS SSSSSLASSE GKGPGGTTLN HSISSQTVSG SVGTTQTTGS NTVSVQLPQP
QQQYNHPNTA TVAPFLYRSQ TDTEGNVTAE SSSTGVSVEP SHFTKTGQPA LEELTGEDPE
ARRLRTVKNI ADLRQNLEET MSSLRGTQVT HSTLETTFDT NVTTEMSGRS ILSLTGRPTP
LSWRLGQSSP RLQAGDAPSM GNGYPPRANA SRFINTESGR YVYSAPLRRQ LASRGSSVCH
VDVSDKAGDE MDLEGISMDA PGYMSDGDVL SKNIRTDDIT SGYMTDGGLG LYTRRLNRLP
DGMAVVRETL QRNTSLGLGD ADSWDDSSSV SSGISDTIDN LSTDDINTSS SISSYANTPA
SSRKNLDVQT DAEKHSQVER NSLWSGDDVK KSDGGSDSGI KMEPGSKWRR NPSDVSDESD
KSTSGKKNPV ISQTGSWRRG MTAQVGITMP RTKPSAPAGA LKTPGTGKTD DAKVSEKGRL
SPKASQVKRS PSDAGRSSGD ESKKPLPSSS RTPTANANSF GFKKQSGSAA GLAMITASGV
TVTSRSATLG KIPKSSALVS RSAGRKSSMD GAQNQDDGYL ALSSRTNLQY RSLPRPSKSN
SRNGAGNRSS TSSIDSNISS KSAGLPVPKL REPSKTALGS SLPGLVNQTD KEKGISSDNE
SVASCNSVKV NPAAQPVSSP AQTSLQPGAK YPDVASPTLR RLFGGKPTKQ VPIATAENMK
NSVVISNPHA TMTQQGNLDS PSGSGVLSSG SSSPLYSKNV DLNQSPLASS PSSAHSAPSN
SLTWGTNASS SSAVSKDGLG FQSVSSLHTS CESIDISLSS GGVPSHNSST GLIASSKDDS
LTPFVRTNSV KTTLSESPLS SPAASPKFCR STLPRKQDSD PHLDRNTLPK KGLRYTPTSQ
LRTQEDAKEW LRSHSAGGLQ DTAANSPFSS GSSVTSPSGT RFNFSQLASP TTVTQMSLSN
PTMLRTHSLS NADGQYDPYT DSRFRNSSMS LDEKSRTMSR SGSFRDGFEE VHGSSLSLVS
STSSVYSTPE EKCQSEIRKL RRELDASQEK VSALTTQLTA NAHLVAAFEQ SLGNMTIRLQ
SLTMTAEQKD SELNELRKTI ELLKKQNAAA QAAINGVINT PELNCKGNGT AQSADLRIRR
QHSSDSVSSI NSATSHSSVG SNIESDSKKK KRKNWVNELR SSFKQAFGKK KSPKSASSHS
DIEEMTDSSL PSSPKLPHNG STGSTPLLRN SHSNSLISEC MDSEAETVMQ LRNELRDKEM
KLTDIRLEAL SSAHQLDQLR EAMNRMQSEI EKLKAENDRL KSESQGSGCS RAPSQVSISA
SPRQSMGLSQ HSLNLTESTS LDMLLDDTGE CSARKEGGRH VKIVVSFQEE MKWKEDSRPH
LFLIGCIGVS GKTKWDVLDG VVRRLFKEYI IHVDPVSQLG LNSDSVLGYS IGEIKRSNTS
ETPELLPCGY LVGENTTISV TVKGLAENSL DSLVFESLIP KPILQRYVSL LIEHRRIILS
GPSGTGKTYL ANRLSEYIVL REGRELTDGV IATFNVDHKS SKELRQYLSN LADQCNSENN
AVDMPLVIIL DNLHHVSSLG EIFNGLLNCK YHKCPYIIGT MNQATSSTPN LQLHHNFRWV
LCANHTEPVK GFLGRFLRRK LMETEISGRV RNMELVKIID WIPKVWHHLN RFLEAHSSSD
VTIGPRLFLS CPIDVDGSRV WFTDLWNYSI IPYLLEAVRE GLQLYGRRAP WEDPAKWVMD
TYPWAASPQQ HEWPPLLQLR PEDVGFDGYS MPREGSTSKQ MPPSDAEGDP LMNMLMRLQE
AANYSSPQSY DSDSNSNSHH DDILDSSLES TL*
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 QAEMQSRLPG PTARVSAAGS EAKTRGGSTT ANNRRSQSFN NYDKSKPVTS
PPPPPSSHEK EPLASSASSH PGMSDNAPAS LESGSSSTPT NCSTSSAIPQ PGAATKPWRS
KSLSVKHSAT VSMLSVKPPG PEAPRPTPEA MKPAPNNQKS MLEKLKLFNS KGGSKAGEGP
GSRDTSCERL ETLPSFEESE ELEAASRMLT TVGPASSSPK IALKGIAQRT FSRALTNKKS
SLKGNEKEKE KQQREKDKEK SKDLAKRASV TERLDLKEEP KEDPSGAAVP EMPKKSSKIA
SFIPKGGKLN SAKKEPMAPS HSGIPKPGMK SMPGKSPSAP APSKEGERSR SGKLSSGLPQ
QKPQLDGRHS SSSSSLASSE GKGPGGTTLN HSISSQTVSG SVGTTQTTGS NTVSVQLPQP
QQQYNHPNTA TVAPFLYRSQ TDTEGNVTAE SSSTGVSVEP SHFTKTGQPA LEELTGEDPE
ARRLRTVKNI ADLRQNLEET MSSLRGTQVT HSTLETTFDT NVTTEMSGRS ILSLTGRPTP
LSWRLGQSSP RLQAGDAPSM GNGYPPRANA SRFINTESGR YVYSAPLRRQ LASRGSSVCH
VDVSDKAGDE MDLEGISMDA PGYMSDGDVL SKNIRTDDIT SGYMTDGGLG LYTRRLNRLP
DGMAVVRETL QRNTSLGLGD ADSWDDSSSV SSGISDTIDN LSTDDINTSS SISSYANTPA
SSRKNLDVQT DAEKHSQVER NSLWSGDDVK KSDGGSDSGI KMEPGSKWRR NPSDVSDESD
KSTSGKKNPV ISQTGSWRRG MTAQVGITMP RTKPSAPAGA LKTPGTGKTD DAKVSEKGRL
SPKASQVKRS PSDAGRSSGD ESKKPLPSSS RTPTANANSF GFKKQSGSAA GLAMITASGV
TVTSRSATLG KIPKSSALVS RSAGRKSSMD GAQNQDDGYL ALSSRTNLQY RSLPRPSKSN
SRNGAGNRSS TSSIDSNISS KSAGLPVPKL REPSKTALGS SLPGLVNQTD KEKGISSDNE
SVASCNSVKV NPAAQPVSSP AQTSLQPGAK YPDVASPTLR RLFGGKPTKQ VPIATAENMK
NSVVISNPHA TMTQQGNLDS PSGSGVLSSG SSSPLYSKNV DLNQSPLASS PSSAHSAPSN
SLTWGTNASS SSAVSKDGLG FQSVSSLHTS CESIDISLSS GGVPSHNSST GLIASSKDDS
LTPFVRTNSV KTTLSESPLS SPAASPKFCR STLPRKQDSD PHLDRNTLPK KGLRYTPTSQ
LRTQEDAKEW LRSHSAGGLQ DTAANSPFSS GSSVTSPSGT RFNFSQLASP TTVTQMSLSN
PTMLRTHSLS NADGQYDPYT DSRFRNSSMS LDEKSRTMSR SGSFRDGFEE VHGSSLSLVS
STSSVYSTPE EKCQSEIRKL RRELDASQEK VSALTTQLTA NAHLVAAFEQ SLGNMTIRLQ
SLTMTAEQKD SELNELRKTI ELLKKQNAAA QAAINGVINT PELNCKGNGT AQSADLRIRR
QHSSDSVSSI NSATSHSSVG SNIESDSKKK KRKNWVNELR SSFKQAFGKK KSPKSASSHS
DIEEMTDSSL PSSPKLPHNG STGSTPLLRN SHSNSLISEC MDSEAETVMQ LRNELRDKEM
KLTDIRLEAL SSAHQLDQLR EAMNRMQSEI EKLKAENDRL KSESQGSGCS RAPSQVSISA
SPRQSMGLSQ HSLNLTESTS LDMLLDDTGE CSARKEGGRH VKIVVSFQEE MKWKEDSRPH
LFLIGCIGVS GKTKWDVLDG VVRRLFKEYI IHVDPVSQLG LNSDSVLGYS IGEIKRSNTS
ETPELLPCGY LVGENTTISV TVKGLAENSL DSLVFESLIP KPILQRYVSL LIEHRRIILS
GPSGTGKTYL ANRLSEYIVL REGRELTDGV IATFNVDHKS SKELRQYLSN LADQCNSENN
AVDMPLVIIL DNLHHVSSLG EIFNGLLNCK YHKCPYIIGT MNQATSSTPN LQLHHNFRWV
LCANHTEPVK GFLGRFLRRK LMETEISGRV RNMELVKIID WIPKVWHHLN RFLEAHSSSD
VTIGPRLFLS CPIDVDGSRV WFTDLWNYSI IPYLLEAVRE GLQLYGRRAP WEDPAKWVMD
TYPWAASPQQ HEWPPLLQLR PEDVGFDGYS MPREGSTSKQ MPPSDAEGDP LMNMLMRLQE
AANYSSPQSY DSDSNSNSHH DDILDSSLES TL*
speed 1.02 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