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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000360655
Querying Taster for transcript #2: ENST00000396085
Querying Taster for transcript #3: ENST00000349880
Querying Taster for transcript #4: ENST00000396087
Querying Taster for transcript #5: ENST00000527559
Querying Taster for transcript #6: ENST00000540292
MT speed 0 s - this script 6.400478 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
NAV2polymorphism_automatic1.64004896839876e-05simple_aaeaffectedR45Ksingle base exchangers6483617show file
NAV2polymorphism_automatic1.64004896839876e-05simple_aaeaffectedR38Ksingle base exchangers6483617show file
NAV2polymorphism_automatic1.64004896839876e-05simple_aaeaffectedR40Ksingle base exchangers6483617show file
NAV2polymorphism_automatic2.7234331229975e-05simple_aaeaffectedR109Ksingle base exchangers6483617show file
NAV2polymorphism_automatic2.7234331229975e-05simple_aaeaffectedR109Ksingle base exchangers6483617show file
NAV2polymorphism_automatic2.7234331229975e-05simple_aaeaffectedR109Ksingle base exchangers6483617show file

Taster files

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 gained4818140.39mu: GTCTCATCAAGGATC CTCA|tcaa
Donor gained4818130.75mu: CGTCTCATCAAGGAT TCTC|atca
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 0.90 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: 0.999983599510316 (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 ENST00000527559
Genbank transcript ID NM_001244963
UniProt peptide Q8IVL1
alteration type single base exchange
alteration region CDS
DNA changes c.113G>A
cDNA.113G>A
g.481818G>A
AA changes R38K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 38
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 gained4818140.39mu: GTCTCATCAAGGATC CTCA|tcaa
Donor gained4818130.75mu: CGTCTCATCAAGGAT TCTC|atca
distance from splice site 59
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      38YLAKSGHKRLIRDLQQDVTDGVLL
mutated  all conserved    38YLAKSGHKRLIKDLQQDVTDGVL
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 7254 / 7254
position (AA) of stopcodon in wt / mu AA sequence 2418 / 2418
position of stopcodon in wt / mu cDNA 7254 / 7254
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 7129
theoretical NMD boundary in CDS 7078
length of CDS 7254
coding sequence (CDS) position 113
cDNA position
(for ins/del: last normal base / first normal base)		 113
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 MSVMLWRWEQ NNTTMKLQIY TDWANHYLAK SGHKRLIRDL QQDVTDGVLL AQIIQVVANE
KIEDINGCPK NRSQMIENID ACLNFLAAKG INIQGLSAEE IRNGNLKAIL GLFFSLSRYK
QQQQQPQKQH LSSPLPPAVS QVAGAPSQCQ AGTPQQQVPV TPQAPCQPHQ PAPHQQSKAQ
AEMQSSASSK DSSQSKIIRF TLGQKKISRL PGPTARVSAA GSEAKTRGGS TTANNRRSQS
FNNYDKSKPV TSPPPPPSSH EKEPLASSAS SHPGMSDNAP ASLESGSSST PTNCSTSSAI
PQPGAATKPW RSKSLSVKHS ATVSMLSVKP PGPEAPRPTP EAMKPAPNNQ KSMLEKLKLF
NSKGGSKAGE GPGSRDTSCE RLETLPSFEE SEELEAASRM LTTVGPASSS PKIALKGIAQ
RTFSRALTNK KSSLKGNEKE KEKQQREKDK EKSKDLAKRA SVTERLDLKE EPKEDPSGAA
VPEMPKKSSK IASFIPKGGK LNSAKKEPMA PSHSGIPKPG MKSMPGKSPS APAPSKEGER
SRSGKLSSGL PQQKPQLDGR HSSSSSSLAS SEGKGPGGTT LNHSISSQTV SGSVGTTQTT
GSNTVSVQLP QPQQQYNHPN TATVAPFLYR SQTDTEGNVT AESSSTGVSV EPSHFTKTGQ
PALEELTGED PEARRLRTVK NIADLRQNLE ETMSSLRGTQ VTHSTLETTF DTNVTTEMSG
RSILSLTGRP TPLSWRLGQS SPRLQAGDAP SMGNGYPPRA NASRFINTES GRYVYSAPLR
RQLASRGSSV CHVDVSDKAG DEMDLEGISM DAPGYMSDGD VLSKNIRTDD ITSGYMTDGG
LGLYTRRLNR LPDGMAVVRE TLQRNTSLGL GDADSWDDSS SVSSGISDTI DNLSTDDINT
SSSISSYANT PASSRKNLDV QTDAEKHSQV ERNSLWSGDD VKKSDGGSDS GIKMEPGSKW
RRNPSDVSDE SDKSTSGKKN PVISQTGSWR RGMTAQVGIT MPRTKPSAPA GALKTPGTGK
TDDAKVSEKG RLSPKASQVK RSPSDAGRSS GDESKKPLPS SSRTPTANAN SFGFKKQSGS
AAGLAMITAS GVTVTSRSAT LGKIPKSSAL VSRSAGRKSS MDGAQNQDDG YLALSSRTNL
QYRSLPRPSK SNSRNGAGNR SSTSSIDSNI SSKSAGLPVP KLREPSKTAL GSSLPGLVNQ
TDKEKGISSD NESVASCNSV KVNPAAQPVS SPAQTSLQPG AKYPDVASPT LRRLFGGKPT
KQVPIATAEN MKNSVVISNP HATMTQQGNL DSPSGSGVLS SGSSSPLYSK NVDLNQSPLA
SSPSSAHSAP SNSLTWGTNA SSSSAVSKDG LGFQSVSSLH TSCESIDISL SSGGVPSHNS
STGLIASSKD DSLTPFVRTN SVKTTLSESP LSSPAASPKF CRSTLPRKQD SDPHLDRNTL
PKKGLRYTPT SQLRTQEDAK EWLRSHSAGG LQDTAANSPF SSGSSVTSPS GTRFNFSQLA
SPTTVTQMSL SNPTMLRTHS LSNADGQYDP YTDSRFRNSS MSLDEKSRTM SRSGSFRDGF
EEESWEKSSV DNFVSRLHSS LHFSLPLFHH ARYELVHGSS LSLVSSTSSV YSTPEEKCQS
EIRKLRRELD ASQEKVSALT TQLTANAHLV AAFEQSLGNM TIRLQSLTMT AEQKDSELNE
LRKTIELLKK QNAAAQAAIN GVINTPELNC KGNGTAQSAD LRIRRQHSSD SVSSINSATS
HSSVGSNIES DSKKKKRKNW VNELRSSFKQ AFGKKKSPKS ASSHSDIEEM TDSSLPSSPK
LPHNGSTGST PLLRNSHSNS LISECMDSEA ETVMQLRNEL RDKEMKLTDI RLEALSSAHQ
LDQLREAMNR MQSEIEKLKA ENDRLKSESQ GSGCSRAPSQ VSISASPRQS MGLSQHSLNL
TESTSLDMLL DDTGECSARK EGGRHVKIVV SFQEEMKWKE DSRPHLFLIG CIGVSGKTKW
DVLDGVVRRL FKEYIIHVDP VSQLGLNSDS VLGYSIGEIK RSNTSETPEL LPCGYLVGEN
TTISVTVKGL AENSLDSLVF ESLIPKPILQ RYVSLLIEHR RIILSGPSGT GKTYLANRLS
EYIVLREGRE LTDGVIATFN VDHKSSKELR QYLSNLADQC NSENNAVDMP LVIILDNLHH
VSSLGEIFNG LLNCKYHKCP YIIGTMNQAT SSTPNLQLHH NFRWVLCANH TEPVKGFLGR
FLRRKLMETE ISGRVRNMEL VKIIDWIPKV WHHLNRFLEA HSSSDVTIGP RLFLSCPIDV
DGSRVWFTDL WNYSIIPYLL EAVREGLQLY GRRAPWEDPA KWVMDTYPWA ASPQQHEWPP
LLQLRPEDVG FDGYSMPREG STSKQMPPSD AEGDPLMNML MRLQEAANYS SPQSYDSDSN
SNSHHDDILD SSLESTL*
mutated AA sequence MSVMLWRWEQ NNTTMKLQIY TDWANHYLAK SGHKRLIKDL QQDVTDGVLL AQIIQVVANE
KIEDINGCPK NRSQMIENID ACLNFLAAKG INIQGLSAEE IRNGNLKAIL GLFFSLSRYK
QQQQQPQKQH LSSPLPPAVS QVAGAPSQCQ AGTPQQQVPV TPQAPCQPHQ PAPHQQSKAQ
AEMQSSASSK DSSQSKIIRF TLGQKKISRL PGPTARVSAA GSEAKTRGGS TTANNRRSQS
FNNYDKSKPV TSPPPPPSSH EKEPLASSAS SHPGMSDNAP ASLESGSSST PTNCSTSSAI
PQPGAATKPW RSKSLSVKHS ATVSMLSVKP PGPEAPRPTP EAMKPAPNNQ KSMLEKLKLF
NSKGGSKAGE GPGSRDTSCE RLETLPSFEE SEELEAASRM LTTVGPASSS PKIALKGIAQ
RTFSRALTNK KSSLKGNEKE KEKQQREKDK EKSKDLAKRA SVTERLDLKE EPKEDPSGAA
VPEMPKKSSK IASFIPKGGK LNSAKKEPMA PSHSGIPKPG MKSMPGKSPS APAPSKEGER
SRSGKLSSGL PQQKPQLDGR HSSSSSSLAS SEGKGPGGTT LNHSISSQTV SGSVGTTQTT
GSNTVSVQLP QPQQQYNHPN TATVAPFLYR SQTDTEGNVT AESSSTGVSV EPSHFTKTGQ
PALEELTGED PEARRLRTVK NIADLRQNLE ETMSSLRGTQ VTHSTLETTF DTNVTTEMSG
RSILSLTGRP TPLSWRLGQS SPRLQAGDAP SMGNGYPPRA NASRFINTES GRYVYSAPLR
RQLASRGSSV CHVDVSDKAG DEMDLEGISM DAPGYMSDGD VLSKNIRTDD ITSGYMTDGG
LGLYTRRLNR LPDGMAVVRE TLQRNTSLGL GDADSWDDSS SVSSGISDTI DNLSTDDINT
SSSISSYANT PASSRKNLDV QTDAEKHSQV ERNSLWSGDD VKKSDGGSDS GIKMEPGSKW
RRNPSDVSDE SDKSTSGKKN PVISQTGSWR RGMTAQVGIT MPRTKPSAPA GALKTPGTGK
TDDAKVSEKG RLSPKASQVK RSPSDAGRSS GDESKKPLPS SSRTPTANAN SFGFKKQSGS
AAGLAMITAS GVTVTSRSAT LGKIPKSSAL VSRSAGRKSS MDGAQNQDDG YLALSSRTNL
QYRSLPRPSK SNSRNGAGNR SSTSSIDSNI SSKSAGLPVP KLREPSKTAL GSSLPGLVNQ
TDKEKGISSD NESVASCNSV KVNPAAQPVS SPAQTSLQPG AKYPDVASPT LRRLFGGKPT
KQVPIATAEN MKNSVVISNP HATMTQQGNL DSPSGSGVLS SGSSSPLYSK NVDLNQSPLA
SSPSSAHSAP SNSLTWGTNA SSSSAVSKDG LGFQSVSSLH TSCESIDISL SSGGVPSHNS
STGLIASSKD DSLTPFVRTN SVKTTLSESP LSSPAASPKF CRSTLPRKQD SDPHLDRNTL
PKKGLRYTPT SQLRTQEDAK EWLRSHSAGG LQDTAANSPF SSGSSVTSPS GTRFNFSQLA
SPTTVTQMSL SNPTMLRTHS LSNADGQYDP YTDSRFRNSS MSLDEKSRTM SRSGSFRDGF
EEESWEKSSV DNFVSRLHSS LHFSLPLFHH ARYELVHGSS LSLVSSTSSV YSTPEEKCQS
EIRKLRRELD ASQEKVSALT TQLTANAHLV AAFEQSLGNM TIRLQSLTMT AEQKDSELNE
LRKTIELLKK QNAAAQAAIN GVINTPELNC KGNGTAQSAD LRIRRQHSSD SVSSINSATS
HSSVGSNIES DSKKKKRKNW VNELRSSFKQ AFGKKKSPKS ASSHSDIEEM TDSSLPSSPK
LPHNGSTGST PLLRNSHSNS LISECMDSEA ETVMQLRNEL RDKEMKLTDI RLEALSSAHQ
LDQLREAMNR MQSEIEKLKA ENDRLKSESQ GSGCSRAPSQ VSISASPRQS MGLSQHSLNL
TESTSLDMLL DDTGECSARK EGGRHVKIVV SFQEEMKWKE DSRPHLFLIG CIGVSGKTKW
DVLDGVVRRL FKEYIIHVDP VSQLGLNSDS VLGYSIGEIK RSNTSETPEL LPCGYLVGEN
TTISVTVKGL AENSLDSLVF ESLIPKPILQ RYVSLLIEHR RIILSGPSGT GKTYLANRLS
EYIVLREGRE LTDGVIATFN VDHKSSKELR QYLSNLADQC NSENNAVDMP LVIILDNLHH
VSSLGEIFNG LLNCKYHKCP YIIGTMNQAT SSTPNLQLHH NFRWVLCANH TEPVKGFLGR
FLRRKLMETE ISGRVRNMEL VKIIDWIPKV WHHLNRFLEA HSSSDVTIGP RLFLSCPIDV
DGSRVWFTDL WNYSIIPYLL EAVREGLQLY GRRAPWEDPA KWVMDTYPWA ASPQQHEWPP
LLQLRPEDVG FDGYSMPREG STSKQMPPSD AEGDPLMNML MRLQEAANYS SPQSYDSDSN
SNSHHDDILD SSLESTL*
speed 0.85 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: 0.999983599510316 (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 gained4818140.39mu: GTCTCATCAAGGATC CTCA|tcaa
Donor gained4818130.75mu: CGTCTCATCAAGGAT TCTC|atca
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 0.85 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: 0.99997276566877 (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 gained4818140.39mu: GTCTCATCAAGGATC CTCA|tcaa
Donor gained4818130.75mu: CGTCTCATCAAGGAT TCTC|atca
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 0.97 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: 0.99997276566877 (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 ENST00000349880
Genbank transcript ID NM_145117
UniProt peptide Q8IVL1
alteration type single base exchange
alteration region CDS
DNA changes c.326G>A
cDNA.656G>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 gained4818140.39mu: GTCTCATCAAGGATC CTCA|tcaa
Donor gained4818130.75mu: CGTCTCATCAAGGAT TCTC|atca
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 7290 / 7290
position (AA) of stopcodon in wt / mu AA sequence 2430 / 2430
position of stopcodon in wt / mu cDNA 7620 / 7620
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 331 / 331
chromosome 11
strand 1
last intron/exon boundary 7495
theoretical NMD boundary in CDS 7114
length of CDS 7290
coding sequence (CDS) position 326
cDNA position
(for ins/del: last normal base / first normal base)		 656
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 KRKNWLRSSF 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 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 KRKNWLRSSF 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 0.57 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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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 gained4818140.39mu: GTCTCATCAAGGATC CTCA|tcaa
Donor gained4818130.75mu: CGTCTCATCAAGGAT TCTC|atca
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 0.81 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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