Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999983599510316 (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 ENST00000540292
Genbank transcript ID NM_001244963
UniProt peptide Q8IVL1
alteration type single base exchange
alteration region CDS
DNA changes c.119G>A
cDNA.119G>A
g.481818G>A
AA changes R40K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 40
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      40YLAKSGHKRLIRDLQQDVTDGVLL
mutated  all conserved    40YLAKSGHKRLIKDLQQDVTDGVL
Ptroglodytes  all conserved  ENSPTRG00000003436  109YLAKSGHKRLIKDLQQDVTDGVL
Mmulatta  all conserved  ENSMMUG00000016942  109YLAKSGHKRLIKDLQQDVTDGVL
Fcatus  all conserved  ENSFCAG00000001793  106YLAKSGHKRLIKDLQQDVTDGVL
Mmusculus  all conserved  ENSMUSG00000052512  106YLAKSGHKRLIKDLQQDVTDGVL
Ggallus  all conserved  ENSGALG00000003999  106YLAKSGHKRLIKDLQQDVTDGVL
Trubripes  all conserved  ENSTRUG00000015822  21YLAKSGHKRLIKDLQTDVTDGVL
Drerio  all conserved  ENSDARG00000073688  92YLAKSGHKRLIKDLQQDVSDGVL
Dmelanogaster  no alignment  FBgn0260966  n/a
Celegans  all identical  F45E10.1  30HLSKGSLSKSIRDISNDFRDYRL
Xtropicalis  all conserved  ENSXETG00000014194  105YLAKSGHKRLIKDLQQDVTDGVL
protein features
start (aa)end (aa)featuredetails 
85192DOMAINCH.might get lost (downstream of altered splice site)
90101HELIXmight get lost (downstream of altered splice site)
100100CONFLICTA -> T (in Ref. 2; BAC00854 and 3; CAD32471).might get lost (downstream of altered splice site)
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 7260 / 7260
position (AA) of stopcodon in wt / mu AA sequence 2420 / 2420
position of stopcodon in wt / mu cDNA 7260 / 7260
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 1 / 1
chromosome 11
strand 1
last intron/exon boundary 7135
theoretical NMD boundary in CDS 7084
length of CDS 7260
coding sequence (CDS) position 119
cDNA position
(for ins/del: last normal base / first normal base)		 119
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 MAIDLYCGLA CLWGIHEPRQ IYTDWANHYL AKSGHKRLIR DLQQDVTDGV LLAQIIQVVA
NEKIEDINGC PKNRSQMIEN IDACLNFLAA KGINIQGLSA EEIRNGNLKA ILGLFFSLSR
YKQQQQQPQK QHLSSPLPPA VSQVAGAPSQ CQAGTPQQQV PVTPQAPCQP HQPAPHQQSK
AQAEMQSSAS SKDSSQSKII RFTLGQKKIS RLPGPTARVS AAGSEAKTRG GSTTANNRRS
QSFNNYDKSK PVTSPPPPPS SHEKEPLASS ASSHPGMSDN APASLESGSS STPTNCSTSS
AIPQPGAATK PWRSKSLSVK HSATVSMLSV KPPGPEAPRP TPEAMKPAPN NQKSMLEKLK
LFNSKGGSKA GEGPGSRDTS CERLETLPSF EESEELEAAS RMLTTVGPAS SSPKIALKGI
AQRTFSRALT NKKSSLKGNE KEKEKQQREK DKEKSKDLAK RASVTERLDL KEEPKEDPSG
AAVPEMPKKS SKIASFIPKG GKLNSAKKEP MAPSHSGIPK PGMKSMPGKS PSAPAPSKEG
ERSRSGKLSS GLPQQKPQLD GRHSSSSSSL ASSEGKGPGG TTLNHSISSQ TVSGSVGTTQ
TTGSNTVSVQ LPQPQQQYNH PNTATVAPFL YRSQTDTEGN VTAESSSTGV SVEPSHFTKT
GQPALEELTG EDPEARRLRT VKNIADLRQN LEETMSSLRG TQVTHSTLET TFDTNVTTEM
SGRSILSLTG RPTPLSWRLG QSSPRLQAGD APSMGNGYPP RANASRFINT ESGRYVYSAP
LRRQLASRGS SVCHVDVSDK AGDEMDLEGI SMDAPGYMSD GDVLSKNIRT DDITSGYMTD
GGLGLYTRRL NRLPDGMAVV RETLQRNTSL GLGDADSWDD SSSVSSGISD TIDNLSTDDI
NTSSSISSYA NTPASSRKNL DVQTDAEKHS QVERNSLWSG DDVKKSDGGS DSGIKMEPGS
KWRRNPSDVS DESDKSTSGK KNPVISQTGS WRRGMTAQVG ITMPRTKPSA PAGALKTPGT
GKTDDAKVSE KGRLSPKASQ VKRSPSDAGR SSGDESKKPL PSSSRTPTAN ANSFGFKKQS
GSAAGLAMIT ASGVTVTSRS ATLGKIPKSS ALVSRSAGRK SSMDGAQNQD DGYLALSSRT
NLQYRSLPRP SKSNSRNGAG NRSSTSSIDS NISSKSAGLP VPKLREPSKT ALGSSLPGLV
NQTDKEKGIS SDNESVASCN SVKVNPAAQP VSSPAQTSLQ PGAKYPDVAS PTLRRLFGGK
PTKQVPIATA ENMKNSVVIS NPHATMTQQG NLDSPSGSGV LSSGSSSPLY SKNVDLNQSP
LASSPSSAHS APSNSLTWGT NASSSSAVSK DGLGFQSVSS LHTSCESIDI SLSSGGVPSH
NSSTGLIASS KDDSLTPFVR TNSVKTTLSE SPLSSPAASP KFCRSTLPRK QDSDPHLDRN
TLPKKGLRYT PTSQLRTQED AKEWLRSHSA GGLQDTAANS PFSSGSSVTS PSGTRFNFSQ
LASPTTVTQM SLSNPTMLRT HSLSNADGQY DPYTDSRFRN SSMSLDEKSR TMSRSGSFRD
GFEEESWEKS SVDNFVSRLH SSLHFSLPLF HHARYELVHG SSLSLVSSTS SVYSTPEEKC
QSEIRKLRRE LDASQEKVSA LTTQLTANAH LVAAFEQSLG NMTIRLQSLT MTAEQKDSEL
NELRKTIELL KKQNAAAQAA INGVINTPEL NCKGNGTAQS ADLRIRRQHS SDSVSSINSA
TSHSSVGSNI ESDSKKKKRK NWVNELRSSF KQAFGKKKSP KSASSHSDIE EMTDSSLPSS
PKLPHNGSTG STPLLRNSHS NSLISECMDS EAETVMQLRN ELRDKEMKLT DIRLEALSSA
HQLDQLREAM NRMQSEIEKL KAENDRLKSE SQGSGCSRAP SQVSISASPR QSMGLSQHSL
NLTESTSLDM LLDDTGECSA RKEGGRHVKI VVSFQEEMKW KEDSRPHLFL IGCIGVSGKT
KWDVLDGVVR RLFKEYIIHV DPVSQLGLNS DSVLGYSIGE IKRSNTSETP ELLPCGYLVG
ENTTISVTVK GLAENSLDSL VFESLIPKPI LQRYVSLLIE HRRIILSGPS GTGKTYLANR
LSEYIVLREG RELTDGVIAT FNVDHKSSKE LRQYLSNLAD QCNSENNAVD MPLVIILDNL
HHVSSLGEIF NGLLNCKYHK CPYIIGTMNQ ATSSTPNLQL HHNFRWVLCA NHTEPVKGFL
GRFLRRKLME TEISGRVRNM ELVKIIDWIP KVWHHLNRFL EAHSSSDVTI GPRLFLSCPI
DVDGSRVWFT DLWNYSIIPY LLEAVREGLQ LYGRRAPWED PAKWVMDTYP WAASPQQHEW
PPLLQLRPED VGFDGYSMPR EGSTSKQMPP SDAEGDPLMN MLMRLQEAAN YSSPQSYDSD
SNSNSHHDDI LDSSLESTL*
mutated AA sequence MAIDLYCGLA CLWGIHEPRQ IYTDWANHYL AKSGHKRLIK DLQQDVTDGV LLAQIIQVVA
NEKIEDINGC PKNRSQMIEN IDACLNFLAA KGINIQGLSA EEIRNGNLKA ILGLFFSLSR
YKQQQQQPQK QHLSSPLPPA VSQVAGAPSQ CQAGTPQQQV PVTPQAPCQP HQPAPHQQSK
AQAEMQSSAS SKDSSQSKII RFTLGQKKIS RLPGPTARVS AAGSEAKTRG GSTTANNRRS
QSFNNYDKSK PVTSPPPPPS SHEKEPLASS ASSHPGMSDN APASLESGSS STPTNCSTSS
AIPQPGAATK PWRSKSLSVK HSATVSMLSV KPPGPEAPRP TPEAMKPAPN NQKSMLEKLK
LFNSKGGSKA GEGPGSRDTS CERLETLPSF EESEELEAAS RMLTTVGPAS SSPKIALKGI
AQRTFSRALT NKKSSLKGNE KEKEKQQREK DKEKSKDLAK RASVTERLDL KEEPKEDPSG
AAVPEMPKKS SKIASFIPKG GKLNSAKKEP MAPSHSGIPK PGMKSMPGKS PSAPAPSKEG
ERSRSGKLSS GLPQQKPQLD GRHSSSSSSL ASSEGKGPGG TTLNHSISSQ TVSGSVGTTQ
TTGSNTVSVQ LPQPQQQYNH PNTATVAPFL YRSQTDTEGN VTAESSSTGV SVEPSHFTKT
GQPALEELTG EDPEARRLRT VKNIADLRQN LEETMSSLRG TQVTHSTLET TFDTNVTTEM
SGRSILSLTG RPTPLSWRLG QSSPRLQAGD APSMGNGYPP RANASRFINT ESGRYVYSAP
LRRQLASRGS SVCHVDVSDK AGDEMDLEGI SMDAPGYMSD GDVLSKNIRT DDITSGYMTD
GGLGLYTRRL NRLPDGMAVV RETLQRNTSL GLGDADSWDD SSSVSSGISD TIDNLSTDDI
NTSSSISSYA NTPASSRKNL DVQTDAEKHS QVERNSLWSG DDVKKSDGGS DSGIKMEPGS
KWRRNPSDVS DESDKSTSGK KNPVISQTGS WRRGMTAQVG ITMPRTKPSA PAGALKTPGT
GKTDDAKVSE KGRLSPKASQ VKRSPSDAGR SSGDESKKPL PSSSRTPTAN ANSFGFKKQS
GSAAGLAMIT ASGVTVTSRS ATLGKIPKSS ALVSRSAGRK SSMDGAQNQD DGYLALSSRT
NLQYRSLPRP SKSNSRNGAG NRSSTSSIDS NISSKSAGLP VPKLREPSKT ALGSSLPGLV
NQTDKEKGIS SDNESVASCN SVKVNPAAQP VSSPAQTSLQ PGAKYPDVAS PTLRRLFGGK
PTKQVPIATA ENMKNSVVIS NPHATMTQQG NLDSPSGSGV LSSGSSSPLY SKNVDLNQSP
LASSPSSAHS APSNSLTWGT NASSSSAVSK DGLGFQSVSS LHTSCESIDI SLSSGGVPSH
NSSTGLIASS KDDSLTPFVR TNSVKTTLSE SPLSSPAASP KFCRSTLPRK QDSDPHLDRN
TLPKKGLRYT PTSQLRTQED AKEWLRSHSA GGLQDTAANS PFSSGSSVTS PSGTRFNFSQ
LASPTTVTQM SLSNPTMLRT HSLSNADGQY DPYTDSRFRN SSMSLDEKSR TMSRSGSFRD
GFEEESWEKS SVDNFVSRLH SSLHFSLPLF HHARYELVHG SSLSLVSSTS SVYSTPEEKC
QSEIRKLRRE LDASQEKVSA LTTQLTANAH LVAAFEQSLG NMTIRLQSLT MTAEQKDSEL
NELRKTIELL KKQNAAAQAA INGVINTPEL NCKGNGTAQS ADLRIRRQHS SDSVSSINSA
TSHSSVGSNI ESDSKKKKRK NWVNELRSSF KQAFGKKKSP KSASSHSDIE EMTDSSLPSS
PKLPHNGSTG STPLLRNSHS NSLISECMDS EAETVMQLRN ELRDKEMKLT DIRLEALSSA
HQLDQLREAM NRMQSEIEKL KAENDRLKSE SQGSGCSRAP SQVSISASPR QSMGLSQHSL
NLTESTSLDM LLDDTGECSA RKEGGRHVKI VVSFQEEMKW KEDSRPHLFL IGCIGVSGKT
KWDVLDGVVR RLFKEYIIHV DPVSQLGLNS DSVLGYSIGE IKRSNTSETP ELLPCGYLVG
ENTTISVTVK GLAENSLDSL VFESLIPKPI LQRYVSLLIE HRRIILSGPS GTGKTYLANR
LSEYIVLREG RELTDGVIAT FNVDHKSSKE LRQYLSNLAD QCNSENNAVD MPLVIILDNL
HHVSSLGEIF NGLLNCKYHK CPYIIGTMNQ ATSSTPNLQL HHNFRWVLCA NHTEPVKGFL
GRFLRRKLME TEISGRVRNM ELVKIIDWIP KVWHHLNRFL EAHSSSDVTI GPRLFLSCPI
DVDGSRVWFT DLWNYSIIPY LLEAVREGLQ LYGRRAPWED PAKWVMDTYP WAASPQQHEW
PPLLQLRPED VGFDGYSMPR EGSTSKQMPP SDAEGDPLMN MLMRLQEAAN YSSPQSYDSD
SNSNSHHDDI LDSSLESTL*
speed 0.29 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