Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.000410728278129171 (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) chr20:62193445G>AN/A show variant in all transcripts   IGV
HGNC symbol HELZ2
Ensembl transcript ID ENST00000467148
Genbank transcript ID NM_001037335
UniProt peptide Q9BYK8
alteration type single base exchange
alteration region CDS
DNA changes c.6509C>T
cDNA.6579C>T
g.12148C>T
AA changes T2170M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2170
frameshift no
known variant Reference ID: rs3810481
databasehomozygous (A/A)heterozygousallele carriers
1000G205628833
ExAC26301523517865
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-5.5710.002
3.7460.997
(flanking)1.9861
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased12156wt: 0.59 / mu: 0.83wt: AGAAGCCTTTCACGGTCATTCAGGGCCCACCAGGTAGGGCC
mu: AGAAGCCTTTCATGGTCATTCAGGGCCCACCAGGTAGGGCC		 attc|AGGG
Acc increased12157wt: 0.31 / mu: 0.51wt: GAAGCCTTTCACGGTCATTCAGGGCCCACCAGGTAGGGCCC
mu: GAAGCCTTTCATGGTCATTCAGGGCCCACCAGGTAGGGCCC		 ttca|GGGC
Donor increased12153wt: 0.32 / mu: 0.38wt: CGGTCATTCAGGGCC
mu: TGGTCATTCAGGGCC		 GTCA|ttca
distance from splice site 21
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2170VAVREALEKPFTVIQGPPGTGKTI
mutated  not conserved    2170VREALEKPFMVIQGPPGTGKT
Ptroglodytes  all identical  ENSPTRG00000013743  2161VREALEKPFTVIQGPPGTGKT
Mmulatta  all identical  ENSMMUG00000006070  1567ALEKPLTVIQGPPGTGKT
Fcatus  no alignment  ENSFCAG00000008926  n/a
Mmusculus  all identical  ENSMUSG00000027580  2466RAVRSALQKQFTVIQGPPGTGKT
Ggallus  all identical  ENSGALG00000006138  2085KAVLNALTKPFTLIQGPPGTGKT
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000012600  2308KALEKALNGKFTIIQGPPGTGKT
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
21742181NP_BINDATP (Potential).might get lost (downstream of altered splice site)
22032203CONFLICTG -> S (in Ref. 2; BAE46995).might get lost (downstream of altered splice site)
22292233MOTIFLXXLL motif 5.might get lost (downstream of altered splice site)
23832383CONFLICTV -> A (in Ref. 2; BAE46995).might get lost (downstream of altered splice site)
26262626CONFLICTF -> L (in Ref. 2; BAE46995).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 7950 / 7950
position (AA) of stopcodon in wt / mu AA sequence 2650 / 2650
position of stopcodon in wt / mu cDNA 8020 / 8020
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 71 / 71
chromosome 20
strand -1
last intron/exon boundary 7896
theoretical NMD boundary in CDS 7775
length of CDS 7950
coding sequence (CDS) position 6509
cDNA position
(for ins/del: last normal base / first normal base)		 6579
gDNA position
(for ins/del: last normal base / first normal base)		 12148
chromosomal position
(for ins/del: last normal base / first normal base)		 62193445
original gDNA sequence snippet GGCTCTGGAGAAGCCTTTCACGGTCATTCAGGGCCCACCAG
altered gDNA sequence snippet GGCTCTGGAGAAGCCTTTCATGGTCATTCAGGGCCCACCAG
original cDNA sequence snippet GGCTCTGGAGAAGCCTTTCACGGTCATTCAGGGCCCACCAG
altered cDNA sequence snippet GGCTCTGGAGAAGCCTTTCATGGTCATTCAGGGCCCACCAG
wildtype AA sequence MAVWEAEQLG GLQRGDLLTP PAPDGDGRTA PLGQPPGAQL YCPACLVTCH SQEAFENHCA
SSEHAQMVAF DQALPWEHRS PPPGLSKFEL CPKPDLCEYG DACTKAHSAQ ELQEWVRRTQ
AVELRGQAAW QDGLVPYQER LLAEYQRSSS EVLVLAETLD GVRVTCNQPL MYQAQERKTQ
YSWTFAVHSE EPLLHVALLK QEPGADFSLV APGLPPGRLY ARGERFRVPS STADFQVGVR
VQAASFGTFE QWVVFDFGRR PVLLQKLGLQ LGQGRRPGPC RNLALGHPEE MERWHTGNRH
VVPGVERTAE QTALMAKYKG PALALEFNRS SVASGPISPT NYRQRMHQFL YEEEAAQQQL
VAKLTLRGQV FLKTALQTPA LNMLFAPPGA LYAEVPVPSS LMPDTDQGFL LGRAVSTALV
APVPAPDNTV FEVRLERRAS SEQALWLLLP ARCCLALGLQ PEARLVLEVQ FQIDPMTFRL
WHQAVDTLPE EQLVVPDLPT CALPRPWSVP PLRRGNRKQE LAVALIAGWG PGDGRRVPPL
LIYGPFGTGK TYTLAMASLE VIRRPETKVL ICTHTNSAAD IYIREYFHSH VSGGHPEATP
LRVMYTDRPL SQTDPVTLQY CCLTDDRQAF RPPTRAELAR HRVVVTTTSQ ARELRVPVGF
FSHILIDEAA QMLECEALTP LAYASHGTRL VLAGDHMQVT PRLFSVARAR AAEHTLLHRL
FLCYQQETHE VARQSRLVFH ENYRCTDAIV SFISRHFYVA KGNPIHARGK VPPHPRHYPL
MFCHVAGSPD RDMSMASWLN LAEIAQVVEK VQEAYNTWPS CWGGREQRCI CVVSHGAQVS
ALRQELRRRD LGQVSVGSFE ILPGRQFRVV VLSTVHTCQS LLSPGALAPE FFTDARVLNT
VLTRAQSQLV VVGDAVALCS FGACGKLWES FIRECVERHS VCPEGLSMEQ VEQGVAQRRR
WPPRGTQAGA AGNWEAAPEP VGDLAEEQAA VVTAMVKAEP GDEALSPASR DITATTAQTE
AAAAPAGDAV KEDVVPGACA AGAAAAAGVE STEAEDAEAD FWPWDGELNA DDAILRELLD
ESQKVMVTVG EDGLLDTVAR PESLQQARLY ENLPPAALRK LLHAEPERYR HCSFVPETFE
RASAIPLDDA SSGPIQVRGR LDCGMAFAGD EVLVQLLSGD KAPEGRLRGR VLGVLKRKRH
ELAFVCRMDT WDPRIMVPIN GSVTKIFVAE LKDPSQVPIY SLRKGRLQRV GLERLTAEAR
HSRLFWVQIV LWRQGFYYPL GIVREVLPEA STWEQGLRIL GLEYSLRVPP SDQATITKVL
QKYHTELGRV AGRREDCRAF LTFTVDPQGA CNLDDALSVR DLGPRCEVAV HITDVASFVP
RDGVLDVEAR RQGAAFYAPG REPVPMLPAS LCQDVLSLLP GRDRLAISLF LTMEKASGQL
KSLRFAPSVV QSDRQLSYEE AEEVIRQHPG AGRELPARLD SVDACVVAAC YFSRLLRRHR
LRSDCFYEQP DEDGTLGFRA AHIMVKEYMI QFNRLVAEFL VGSECTRTVT PLRWQPAPRS
QQLKALCEKH GDRVPLSLHL GHHLHGGGGS PPDTRLHLLA SLWKQVQFAA RTQDYEQMVD
LVTTDDMHPF LAPAGRDLRK ALERSAFGRC ARGHQQQGGH YSLQVDWYTW ATSPIRRYLD
VVLQRQILLA LGHGGSAYSA RDIDGLCQAF SLQHALAQSY QRRARSLHLA VQLKAQPLDK
LGFVVDVEAG SRCFRLLFPS NRETLPDPCP VPYGSLQLAE HPHALAGRPG LRLLWRRRVY
SAQGSSPPLP LPGTVPDPHT LAVETALWKQ LLELVELQRW PEAAALIQEK GEASQRRELV
QVQRSHCGHF LEVARELGSG DTLQVQLGTS LQHGFLVPSP QLWTVAPGFS LCLEHVERPG
DCFSGRVYRA PRDRYRDVDE YACVWEPFCA LESATGAVAE NDSVTLQHLS VSWEASRTPQ
GQLQGAFRLE AAFLEENCAD INFSCCYLCI RLEGLPAPTA SPRPGPSSLG PGLNVDPGTY
TWVAHGQTQD WDQERRADRQ EAPRRVHLFV HHMGMEKVPE EVLRPGTLFT VELLPKQLPD
LRKEEAVRGL EEASPLVTSI ALGRPVPQPL CRVIPSRFLE RQTYNIPGGR HKLNPSQNVA
VREALEKPFT VIQGPPGTGK TIVGLHIVFW FHKSNQEQVQ PGGPPRGEKR LGGPCILYCG
PSNKSVDVLA GLLLRRMELK PLRVYSEQAE ASEFPVPRVG SRKLLRKSPR EGRPNQSLRS
ITLHHRIRQA PNPYSSEIKA FDTRLQRGEL FSREDLVWYK KVLWEARKFE LDRHEVILCT
CSCAASASLK ILDVRQILVD EAGMATEPET LIPLVQFPQA EKVVLLGDHK QLRPVVKNER
LQNLGLDRSL FERYHEDAHM LDTQYRMHEG ICAFPSVAFY KSKLKTWQGL RRPPSVLGHA
GKESCPVIFG HVQGHERSLL VSTDEGNENS KANLEEVAEV VRITKQLTLG RTVEPQDIAV
LTPYNAQASE ISKALRREGI AGVAVSSITK SQGSEWRYVL VSTVRTCAKS DLDQRPTKSW
LKKFLGFVVD PNQVNVAVTR AQEGLCLIGD HLLLRCCPLW RSLLDFCEAQ QTLVPAGQVR
VCRRPTMPS*
mutated AA sequence MAVWEAEQLG GLQRGDLLTP PAPDGDGRTA PLGQPPGAQL YCPACLVTCH SQEAFENHCA
SSEHAQMVAF DQALPWEHRS PPPGLSKFEL CPKPDLCEYG DACTKAHSAQ ELQEWVRRTQ
AVELRGQAAW QDGLVPYQER LLAEYQRSSS EVLVLAETLD GVRVTCNQPL MYQAQERKTQ
YSWTFAVHSE EPLLHVALLK QEPGADFSLV APGLPPGRLY ARGERFRVPS STADFQVGVR
VQAASFGTFE QWVVFDFGRR PVLLQKLGLQ LGQGRRPGPC RNLALGHPEE MERWHTGNRH
VVPGVERTAE QTALMAKYKG PALALEFNRS SVASGPISPT NYRQRMHQFL YEEEAAQQQL
VAKLTLRGQV FLKTALQTPA LNMLFAPPGA LYAEVPVPSS LMPDTDQGFL LGRAVSTALV
APVPAPDNTV FEVRLERRAS SEQALWLLLP ARCCLALGLQ PEARLVLEVQ FQIDPMTFRL
WHQAVDTLPE EQLVVPDLPT CALPRPWSVP PLRRGNRKQE LAVALIAGWG PGDGRRVPPL
LIYGPFGTGK TYTLAMASLE VIRRPETKVL ICTHTNSAAD IYIREYFHSH VSGGHPEATP
LRVMYTDRPL SQTDPVTLQY CCLTDDRQAF RPPTRAELAR HRVVVTTTSQ ARELRVPVGF
FSHILIDEAA QMLECEALTP LAYASHGTRL VLAGDHMQVT PRLFSVARAR AAEHTLLHRL
FLCYQQETHE VARQSRLVFH ENYRCTDAIV SFISRHFYVA KGNPIHARGK VPPHPRHYPL
MFCHVAGSPD RDMSMASWLN LAEIAQVVEK VQEAYNTWPS CWGGREQRCI CVVSHGAQVS
ALRQELRRRD LGQVSVGSFE ILPGRQFRVV VLSTVHTCQS LLSPGALAPE FFTDARVLNT
VLTRAQSQLV VVGDAVALCS FGACGKLWES FIRECVERHS VCPEGLSMEQ VEQGVAQRRR
WPPRGTQAGA AGNWEAAPEP VGDLAEEQAA VVTAMVKAEP GDEALSPASR DITATTAQTE
AAAAPAGDAV KEDVVPGACA AGAAAAAGVE STEAEDAEAD FWPWDGELNA DDAILRELLD
ESQKVMVTVG EDGLLDTVAR PESLQQARLY ENLPPAALRK LLHAEPERYR HCSFVPETFE
RASAIPLDDA SSGPIQVRGR LDCGMAFAGD EVLVQLLSGD KAPEGRLRGR VLGVLKRKRH
ELAFVCRMDT WDPRIMVPIN GSVTKIFVAE LKDPSQVPIY SLRKGRLQRV GLERLTAEAR
HSRLFWVQIV LWRQGFYYPL GIVREVLPEA STWEQGLRIL GLEYSLRVPP SDQATITKVL
QKYHTELGRV AGRREDCRAF LTFTVDPQGA CNLDDALSVR DLGPRCEVAV HITDVASFVP
RDGVLDVEAR RQGAAFYAPG REPVPMLPAS LCQDVLSLLP GRDRLAISLF LTMEKASGQL
KSLRFAPSVV QSDRQLSYEE AEEVIRQHPG AGRELPARLD SVDACVVAAC YFSRLLRRHR
LRSDCFYEQP DEDGTLGFRA AHIMVKEYMI QFNRLVAEFL VGSECTRTVT PLRWQPAPRS
QQLKALCEKH GDRVPLSLHL GHHLHGGGGS PPDTRLHLLA SLWKQVQFAA RTQDYEQMVD
LVTTDDMHPF LAPAGRDLRK ALERSAFGRC ARGHQQQGGH YSLQVDWYTW ATSPIRRYLD
VVLQRQILLA LGHGGSAYSA RDIDGLCQAF SLQHALAQSY QRRARSLHLA VQLKAQPLDK
LGFVVDVEAG SRCFRLLFPS NRETLPDPCP VPYGSLQLAE HPHALAGRPG LRLLWRRRVY
SAQGSSPPLP LPGTVPDPHT LAVETALWKQ LLELVELQRW PEAAALIQEK GEASQRRELV
QVQRSHCGHF LEVARELGSG DTLQVQLGTS LQHGFLVPSP QLWTVAPGFS LCLEHVERPG
DCFSGRVYRA PRDRYRDVDE YACVWEPFCA LESATGAVAE NDSVTLQHLS VSWEASRTPQ
GQLQGAFRLE AAFLEENCAD INFSCCYLCI RLEGLPAPTA SPRPGPSSLG PGLNVDPGTY
TWVAHGQTQD WDQERRADRQ EAPRRVHLFV HHMGMEKVPE EVLRPGTLFT VELLPKQLPD
LRKEEAVRGL EEASPLVTSI ALGRPVPQPL CRVIPSRFLE RQTYNIPGGR HKLNPSQNVA
VREALEKPFM VIQGPPGTGK TIVGLHIVFW FHKSNQEQVQ PGGPPRGEKR LGGPCILYCG
PSNKSVDVLA GLLLRRMELK PLRVYSEQAE ASEFPVPRVG SRKLLRKSPR EGRPNQSLRS
ITLHHRIRQA PNPYSSEIKA FDTRLQRGEL FSREDLVWYK KVLWEARKFE LDRHEVILCT
CSCAASASLK ILDVRQILVD EAGMATEPET LIPLVQFPQA EKVVLLGDHK QLRPVVKNER
LQNLGLDRSL FERYHEDAHM LDTQYRMHEG ICAFPSVAFY KSKLKTWQGL RRPPSVLGHA
GKESCPVIFG HVQGHERSLL VSTDEGNENS KANLEEVAEV VRITKQLTLG RTVEPQDIAV
LTPYNAQASE ISKALRREGI AGVAVSSITK SQGSEWRYVL VSTVRTCAKS DLDQRPTKSW
LKKFLGFVVD PNQVNVAVTR AQEGLCLIGD HLLLRCCPLW RSLLDFCEAQ QTLVPAGQVR
VCRRPTMPS*
speed 0.30 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