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 ENST00000360655
Genbank transcript ID NM_001111018
UniProt peptide Q8IVL1
alteration type single base exchange
alteration region CDS
DNA changes c.134G>A
cDNA.363G>A
g.481818G>A
AA changes R45K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 45
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      45YLAKSGHKRLIRDLQQDVTDGVLL
mutated  all conserved    45YLAKSGHKRLIKDLQQDVTDGVL
Ptroglodytes  all conserved  ENSPTRG00000003436  111YLAKSGHKRLIKDLQQDVTDGVL
Mmulatta  all conserved  ENSMMUG00000016942  111YLAKSGHKRLIKDLQQDVTDGVL
Fcatus  all conserved  ENSFCAG00000001793  108YLAKSGHKRLIKDLQQDVTDGVL
Mmusculus  all conserved  ENSMUSG00000052512  108YLAKSGHKRLIKDLQQDVTDGVL
Ggallus  all conserved  ENSGALG00000003999  108YLAKSGHKRLIKDLQQDVTDGVL
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 7098 / 7098
position (AA) of stopcodon in wt / mu AA sequence 2366 / 2366
position of stopcodon in wt / mu cDNA 7327 / 7327
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 230 / 230
chromosome 11
strand 1
last intron/exon boundary 7202
theoretical NMD boundary in CDS 6922
length of CDS 7098
coding sequence (CDS) position 134
cDNA position
(for ins/del: last normal base / first normal base)		 363
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 MESVSESSQQ QKRKPVIHGL EDQKRIYTDW ANHYLAKSGH KRLIRDLQQD VTDGVLLAQI
IQVVANEKIE DINGCPKNRS QMIENIDACL NFLAAKGINI QGLSAEEIRN GNLKAILGLF
FSLSRYKQQQ QQPQKQHLSS PLPPAVSQVA GAPSQCQAGT PQQQVPVTPQ APCQPHQPAP
HQQSKAQAEM QSRLPGPTAR VSAAGSEAKT RGGSTTANNR RSQSFNNYDK SKPVTSPPPP
PSSHEKEPLA SSASSHPGMS DNAPASLESG SSSTPTNCST SSAIPQPGAA TKPWRSKSLS
VKHSATVSML SVKPPGPEAP RPTPEAMKPA PNNQKSMLEK LKLFNSKGGS KAGEGPGSRD
TSCERLETLP SFEESEELEA ASRMLTTVGP ASSSPKIALK GIAQRTFSRA LTNKKSSLKG
NEKEKEKQQR EKDKEKSKDL AKRASVTERL DLKEEPKEDP SGAAVPEMPK KSSKIASFIP
KGGKLNSAKK EPMAPSHSGI PKPGMKSMPG KSPSAPAPSK EGERSRSGKL SSGLPQQKPQ
LDGRHSSSSS SLASSEGKGP GGTTLNHSIS SQTVSGSVGT TQTTGSNTVS VQLPQPQQQY
NHPNTATVAP FLYRSQTDTE GNVTAESSST GVSVEPSHFT KTGQPALEEL TGEDPEARRL
RTVKNIADLR QNLEETMSSL RGTQVTHSTL ETTFDTNVTT EMSGRSILSL TGRPTPLSWR
LGQSSPRLQA GDAPSMGNGY PPRANASRFI NTESGRYVYS APLRRQLASR GSSVCHVDVS
DKAGDEMDLE GISMDAPGYM SDGDVLSKNI RTDDITSGYM TDGGLGLYTR RLNRLPDGMA
VVRETLQRNT SLGLGDADSW DDSSSVSSGI SDTIDNLSTD DINTSSSISS YANTPASSRK
NLDVQTDAEK HSQVERNSLW SGDDVKKSDG GSDSGIKMEP GSKWRRNPSD VSDESDKSTS
GKKNPVISQT GSWRRGMTAQ VGITMPRTKP SAPAGALKTP GTGKTDDAKV SEKGRLSPKA
SQVKRSPSDA GRSSGDESKK PLPSSSRTPT ANANSFGFKK QSGSAAGLAM ITASGVTVTS
RSATLGKIPK SSALVSRSAG RKSSMDGAQN QDDGYLALSS RTNLQYRSLP RPSKSNSRNG
AGNRSSTSSI DSNISSKSAG LPVPKLREPS KTALGSSLPG LVNQTDKEKG ISSDNESVAS
CNSVKVNPAA QPVSSPAQTS LQPGAKYPDV ASPTLRRLFG GKPTKQVPIA TAENMKNSVV
ISNPHATMTQ QGNLDSPSGS GVLSSGSSSP LYSKNVDLNQ SPLASSPSSA HSAPSNSLTW
GTNASSSSAV SKDGLGFQSV SSLHTSCESI DISLSSGGVP SHNSSTGLIA SSKDDSLTPF
VRTNSVKTTL SESPLSSPAA SPKFCRSTLP RKQDSDPHLD RNTLPKKGLR YTPTSQLRTQ
EDAKEWLRSH SAGGLQDTAA NSPFSSGSSV TSPSGTRFNF SQLASPTTVT QMSLSNPTML
RTHSLSNADG QYDPYTDSRF RNSSMSLDEK SRTMSRSGSF RDGFEEVHGS SLSLVSSTSS
VYSTPEEKCQ SEIRKLRREL DASQEKVSAL TTQLTANAHL VAAFEQSLGN MTIRLQSLTM
TAEQKDSELN ELRKTIELLK KQNAAAQAAI NGVINTPELN CKGNGTAQSA DLRIRRQHSS
DSVSSINSAT SHSSVGSNIE SDSKKKKRKN WLRSSFKQAF GKKKSPKSAS SHSDIEEMTD
SSLPSSPKLP HNGSTGSTPL LRNSHSNSLI SECMDSEAET VMQLRNELRD KEMKLTDIRL
EALSSAHQLD QLREAMNRMQ SEIEKLKAEN DRLKSESQGS GCSRAPSQVS ISASPRQSMG
LSQHSLNLTE STSLDMLLDD TGECSARKEG GRHVKIVVSF QEEMKWKEDS RPHLFLIGCI
GVSGKTKWDV LDGVVRRLFK EYIIHVDPVS QLGLNSDSVL GYSIGEIKRS NTSETPELLP
CGYLVGENTT ISVTVKGLAE NSLDSLVFES LIPKPILQRY VSLLIEHRRI ILSGPSGTGK
TYLANRLSEY IVLREGRELT DGVIATFNVD HKSSKELRQY LSNLADQCNS ENNAVDMPLV
IILDNLHHVS SLGEIFNGLL NCKYHKCPYI IGTMNQATSS TPNLQLHHNF RWVLCANHTE
PVKGFLGRFL RRKLMETEIS GRVRNMELVK IIDWIPKVWH HLNRFLEAHS SSDVTIGPRL
FLSCPIDVDG SRVWFTDLWN YSIIPYLLEA VREGLQLYGR RAPWEDPAKW VMDTYPWAAS
PQQHEWPPLL QLRPEDVGFD GYSMPREGST SKQMPPSDAE GDPLMNMLMR LQEAANYSSP
QSYDSDSNSN SHHDDILDSS LESTL*
mutated AA sequence MESVSESSQQ QKRKPVIHGL EDQKRIYTDW ANHYLAKSGH KRLIKDLQQD VTDGVLLAQI
IQVVANEKIE DINGCPKNRS QMIENIDACL NFLAAKGINI QGLSAEEIRN GNLKAILGLF
FSLSRYKQQQ QQPQKQHLSS PLPPAVSQVA GAPSQCQAGT PQQQVPVTPQ APCQPHQPAP
HQQSKAQAEM QSRLPGPTAR VSAAGSEAKT RGGSTTANNR RSQSFNNYDK SKPVTSPPPP
PSSHEKEPLA SSASSHPGMS DNAPASLESG SSSTPTNCST SSAIPQPGAA TKPWRSKSLS
VKHSATVSML SVKPPGPEAP RPTPEAMKPA PNNQKSMLEK LKLFNSKGGS KAGEGPGSRD
TSCERLETLP SFEESEELEA ASRMLTTVGP ASSSPKIALK GIAQRTFSRA LTNKKSSLKG
NEKEKEKQQR EKDKEKSKDL AKRASVTERL DLKEEPKEDP SGAAVPEMPK KSSKIASFIP
KGGKLNSAKK EPMAPSHSGI PKPGMKSMPG KSPSAPAPSK EGERSRSGKL SSGLPQQKPQ
LDGRHSSSSS SLASSEGKGP GGTTLNHSIS SQTVSGSVGT TQTTGSNTVS VQLPQPQQQY
NHPNTATVAP FLYRSQTDTE GNVTAESSST GVSVEPSHFT KTGQPALEEL TGEDPEARRL
RTVKNIADLR QNLEETMSSL RGTQVTHSTL ETTFDTNVTT EMSGRSILSL TGRPTPLSWR
LGQSSPRLQA GDAPSMGNGY PPRANASRFI NTESGRYVYS APLRRQLASR GSSVCHVDVS
DKAGDEMDLE GISMDAPGYM SDGDVLSKNI RTDDITSGYM TDGGLGLYTR RLNRLPDGMA
VVRETLQRNT SLGLGDADSW DDSSSVSSGI SDTIDNLSTD DINTSSSISS YANTPASSRK
NLDVQTDAEK HSQVERNSLW SGDDVKKSDG GSDSGIKMEP GSKWRRNPSD VSDESDKSTS
GKKNPVISQT GSWRRGMTAQ VGITMPRTKP SAPAGALKTP GTGKTDDAKV SEKGRLSPKA
SQVKRSPSDA GRSSGDESKK PLPSSSRTPT ANANSFGFKK QSGSAAGLAM ITASGVTVTS
RSATLGKIPK SSALVSRSAG RKSSMDGAQN QDDGYLALSS RTNLQYRSLP RPSKSNSRNG
AGNRSSTSSI DSNISSKSAG LPVPKLREPS KTALGSSLPG LVNQTDKEKG ISSDNESVAS
CNSVKVNPAA QPVSSPAQTS LQPGAKYPDV ASPTLRRLFG GKPTKQVPIA TAENMKNSVV
ISNPHATMTQ QGNLDSPSGS GVLSSGSSSP LYSKNVDLNQ SPLASSPSSA HSAPSNSLTW
GTNASSSSAV SKDGLGFQSV SSLHTSCESI DISLSSGGVP SHNSSTGLIA SSKDDSLTPF
VRTNSVKTTL SESPLSSPAA SPKFCRSTLP RKQDSDPHLD RNTLPKKGLR YTPTSQLRTQ
EDAKEWLRSH SAGGLQDTAA NSPFSSGSSV TSPSGTRFNF SQLASPTTVT QMSLSNPTML
RTHSLSNADG QYDPYTDSRF RNSSMSLDEK SRTMSRSGSF RDGFEEVHGS SLSLVSSTSS
VYSTPEEKCQ SEIRKLRREL DASQEKVSAL TTQLTANAHL VAAFEQSLGN MTIRLQSLTM
TAEQKDSELN ELRKTIELLK KQNAAAQAAI NGVINTPELN CKGNGTAQSA DLRIRRQHSS
DSVSSINSAT SHSSVGSNIE SDSKKKKRKN WLRSSFKQAF GKKKSPKSAS SHSDIEEMTD
SSLPSSPKLP HNGSTGSTPL LRNSHSNSLI SECMDSEAET VMQLRNELRD KEMKLTDIRL
EALSSAHQLD QLREAMNRMQ SEIEKLKAEN DRLKSESQGS GCSRAPSQVS ISASPRQSMG
LSQHSLNLTE STSLDMLLDD TGECSARKEG GRHVKIVVSF QEEMKWKEDS RPHLFLIGCI
GVSGKTKWDV LDGVVRRLFK EYIIHVDPVS QLGLNSDSVL GYSIGEIKRS NTSETPELLP
CGYLVGENTT ISVTVKGLAE NSLDSLVFES LIPKPILQRY VSLLIEHRRI ILSGPSGTGK
TYLANRLSEY IVLREGRELT DGVIATFNVD HKSSKELRQY LSNLADQCNS ENNAVDMPLV
IILDNLHHVS SLGEIFNGLL NCKYHKCPYI IGTMNQATSS TPNLQLHHNF RWVLCANHTE
PVKGFLGRFL RRKLMETEIS GRVRNMELVK IIDWIPKVWH HLNRFLEAHS SSDVTIGPRL
FLSCPIDVDG SRVWFTDLWN YSIIPYLLEA VREGLQLYGR RAPWEDPAKW VMDTYPWAAS
PQQHEWPPLL QLRPEDVGFD GYSMPREGST SKQMPPSDAE GDPLMNMLMR LQEAANYSSP
QSYDSDSNSN SHHDDILDSS LESTL*
speed 0.35 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