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 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      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 0.75 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