Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999996 (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) chr20:62194030G>CN/A show variant in all transcripts   IGV
HGNC symbol HELZ2
Ensembl transcript ID ENST00000427522
Genbank transcript ID NM_033405
UniProt peptide Q9BYK8
alteration type single base exchange
alteration region CDS
DNA changes c.4438C>G
cDNA.4862C>G
g.11563C>G
AA changes Q1480E Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1480
frameshift no
known variant Reference ID: rs3810483
databasehomozygous (C/C)heterozygousallele carriers
1000G81310621875
ExAC100641263922703
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1670
2.1750.09
(flanking)-3.5770
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased11555wt: 0.2645 / mu: 0.2975 (marginal change - not scored)wt: GTATACCTGGGTGGCCCACGGGCAGACGCAGGACTGGGACC
mu: GTATACCTGGGTGGCCCACGGGCAGACGGAGGACTGGGACC		 acgg|GCAG
Donor gained115590.56mu: GGGCAGACGGAGGAC GCAG|acgg
distance from splice site 158
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1480GTYTWVAHGQTQDWDQERRADRQE
mutated  all conserved    1480GTYTWVAHGQTEDWDQERRADRQ
Ptroglodytes  all conserved  ENSPTRG00000013743  2040DTYTWVAHGQTEDWDQERRADRQ
Mmulatta  all conserved  ENSMMUG00000006070  1446AHGQTEDWDQERRADRQ
Fcatus  no alignment  ENSFCAG00000008926  n/a
Mmusculus  not conserved  ENSMUSG00000027580  2277NTYTWVAHGLSGDWDHELAGGDWDQENV
Ggallus  all conserved  ENSGALG00000006138  1968DTYTWVAHGLTEEFADDHKSDRS
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000012600  2201KYFTWVAHAVTTLCSDSPENSGN
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
15071507MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
18731873CONFLICTV -> A (in Ref. 2; BAE46995).might get lost (downstream of altered splice site)
20122016MOTIFLXXLL motif 4.might get lost (downstream of altered splice site)
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 6243 / 6243
position (AA) of stopcodon in wt / mu AA sequence 2081 / 2081
position of stopcodon in wt / mu cDNA 6667 / 6667
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 425 / 425
chromosome 20
strand -1
last intron/exon boundary 6543
theoretical NMD boundary in CDS 6068
length of CDS 6243
coding sequence (CDS) position 4438
cDNA position
(for ins/del: last normal base / first normal base)		 4862
gDNA position
(for ins/del: last normal base / first normal base)		 11563
chromosomal position
(for ins/del: last normal base / first normal base)		 62194030
original gDNA sequence snippet GGGTGGCCCACGGGCAGACGCAGGACTGGGACCAGGAGCGC
altered gDNA sequence snippet GGGTGGCCCACGGGCAGACGGAGGACTGGGACCAGGAGCGC
original cDNA sequence snippet GGGTGGCCCACGGGCAGACGCAGGACTGGGACCAGGAGCGC
altered cDNA sequence snippet GGGTGGCCCACGGGCAGACGGAGGACTGGGACCAGGAGCGC
wildtype AA sequence MSSSPSRSAA DIYIREYFHS HVSGGHPEAT PLRVMYTDRP LSQTDPVTLQ YCCLTDDRQA
FRPPTRAELA RHRVVVTTTS QARELRVPVG FFSHILIDEA AQMLECEALT PLAYASHGTR
LVLAGDHMQV TPRLFSVARA RAAEHTLLHR LFLCYQQETH EVARQSRLVF HENYRCTDAI
VSFISRHFYV AKGNPIHARG KVPPHPRHYP LMFCHVAGSP DRDMSMASWL NLAEIAQVVE
KVQEAYNTWP SCWGGREQRC ICVVSHGAQV SALRQELRRR DLGQVSVGSF EILPGRQFRV
VVLSTVHTCQ SLLSPGALAP EFFTDARVLN TVLTRAQSQL VVVGDAVALC SFGACGKLWE
SFIRECVERH SVCPEGLSME QVEQGVAQRR RWPPRGTQAG AAGNWEAAPE PVGDLAEEQA
AVVTAMVKAE PGDEALSPAS RDITATTAQT EAAAAPAGDA VKEDVVPGAC AAGAAAAAGV
ESTEAEDAEA DFWPWDGELN ADDAILRELL DESQKVMVTV GEDGLLDTVA RPESLQQARL
YENLPPAALR KLLHAEPERY RHCSFVPETF ERASAIPLDD ASSGPIQVRG RLDCGMAFAG
DEVLVQLLSG DKAPEGRLRG RVLGVLKRKR HELAFVCRMD TWDPRIMVPI NGSVTKIFVA
ELKDPSQVPI YSLRKGRLQR VGLERLTAEA RHSRLFWVQI VLWRQGFYYP LGIVREVLPE
ASTWEQGLRI LGLEYSLRVP PSDQATITKV LQKYHTELGR VAGRREDCRA FLTFTVDPQG
ACNLDDALSV RDLGPRCEVA VHITDVASFV PRDGVLDVEA RRQGAAFYAP GREPVPMLPA
SLCQDVLSLL PGRDRLAISL FLTMEKASGQ LKSLRFAPSV VQSDRQLSYE EAEEVIRQHP
GAGRELPARL DSVDACVVAA CYFSRLLRRH RLRSDCFYEQ PDEDGTLGFR AAHIMVKEYM
IQFNRLVAEF LVGSECTRTV TPLRWQPAPR SQQLKALCEK HGDRVPLSLH LGHHLHGGGG
SPPDTRLHLL ASLWKQVQFA ARTQDYEQMV DLVTTDDMHP FLAPAGRDLR KALERSAFGR
CARGHQQQGG HYSLQVDWYT WATSPIRRYL DVVLQRQILL ALGHGGSAYS ARDIDGLCQA
FSLQHALAQS YQRRARSLHL AVQLKAQPLD KLGFVVDVEA GSRCFRLLFP SNRETLPDPC
PVPYGSLQLA EHPHALAGRP GLRLLWRRRV YSAQGSSPPL PLPGTVPDPH TLAVETALWK
QLLELVELQR WPEAAALIQE KGEASQRREL VQVQRSHCGH FLEVARELGS GDTLQVQLGT
SLQHGFLVPS PQLWTVAPGF SLCLEHVERP GDCFSGRVYR APRDRYRDVD EYACVWEPFC
ALESATGAVA ENDSVTLQHL SVSWEASRTP QGQLQGAFRL EAAFLEENCA DINFSCCYLC
IRLEGLPAPT ASPRPGPSSL GPGLNVDPGT YTWVAHGQTQ DWDQERRADR QEAPRRVHLF
VHHMGMEKVP EEVLRPGTLF TVELLPKQLP DLRKEEAVRG LEEASPLVTS IALGRPVPQP
LCRVIPSRFL ERQTYNIPGG RHKLNPSQNV AVREALEKPF TVIQGPPGTG KTIVGLHIVF
WFHKSNQEQV QPGGPPRGEK RLGGPCILYC GPSNKSVDVL AGLLLRRMEL KPLRVYSEQA
EASEFPVPRV GSRKLLRKSP REGRPNQSLR SITLHHRIRQ APNPYSSEIK AFDTRLQRGE
LFSREDLVWY KKVLWEARKF ELDRHEVILC TCSCAASASL KILDVRQILV DEAGMATEPE
TLIPLVQFPQ AEKVVLLGDH KQLRPVVKNE RLQNLGLDRS LFERYHEDAH MLDTQYRMHE
GICAFPSVAF YKSKLKTWQG LRRPPSVLGH AGKESCPVIF GHVQGHERSL LVSTDEGNEN
SKANLEEVAE VVRITKQLTL GRTVEPQDIA VLTPYNAQAS EISKALRREG IAGVAVSSIT
KSQGSEWRYV LVSTVRTCAK SDLDQRPTKS WLKKFLGFVV DPNQVNVAVT RAQEGLCLIG
DHLLLRCCPL WRSLLDFCEA QQTLVPAGQV RVCRRPTMPS *
mutated AA sequence MSSSPSRSAA DIYIREYFHS HVSGGHPEAT PLRVMYTDRP LSQTDPVTLQ YCCLTDDRQA
FRPPTRAELA RHRVVVTTTS QARELRVPVG FFSHILIDEA AQMLECEALT PLAYASHGTR
LVLAGDHMQV TPRLFSVARA RAAEHTLLHR LFLCYQQETH EVARQSRLVF HENYRCTDAI
VSFISRHFYV AKGNPIHARG KVPPHPRHYP LMFCHVAGSP DRDMSMASWL NLAEIAQVVE
KVQEAYNTWP SCWGGREQRC ICVVSHGAQV SALRQELRRR DLGQVSVGSF EILPGRQFRV
VVLSTVHTCQ SLLSPGALAP EFFTDARVLN TVLTRAQSQL VVVGDAVALC SFGACGKLWE
SFIRECVERH SVCPEGLSME QVEQGVAQRR RWPPRGTQAG AAGNWEAAPE PVGDLAEEQA
AVVTAMVKAE PGDEALSPAS RDITATTAQT EAAAAPAGDA VKEDVVPGAC AAGAAAAAGV
ESTEAEDAEA DFWPWDGELN ADDAILRELL DESQKVMVTV GEDGLLDTVA RPESLQQARL
YENLPPAALR KLLHAEPERY RHCSFVPETF ERASAIPLDD ASSGPIQVRG RLDCGMAFAG
DEVLVQLLSG DKAPEGRLRG RVLGVLKRKR HELAFVCRMD TWDPRIMVPI NGSVTKIFVA
ELKDPSQVPI YSLRKGRLQR VGLERLTAEA RHSRLFWVQI VLWRQGFYYP LGIVREVLPE
ASTWEQGLRI LGLEYSLRVP PSDQATITKV LQKYHTELGR VAGRREDCRA FLTFTVDPQG
ACNLDDALSV RDLGPRCEVA VHITDVASFV PRDGVLDVEA RRQGAAFYAP GREPVPMLPA
SLCQDVLSLL PGRDRLAISL FLTMEKASGQ LKSLRFAPSV VQSDRQLSYE EAEEVIRQHP
GAGRELPARL DSVDACVVAA CYFSRLLRRH RLRSDCFYEQ PDEDGTLGFR AAHIMVKEYM
IQFNRLVAEF LVGSECTRTV TPLRWQPAPR SQQLKALCEK HGDRVPLSLH LGHHLHGGGG
SPPDTRLHLL ASLWKQVQFA ARTQDYEQMV DLVTTDDMHP FLAPAGRDLR KALERSAFGR
CARGHQQQGG HYSLQVDWYT WATSPIRRYL DVVLQRQILL ALGHGGSAYS ARDIDGLCQA
FSLQHALAQS YQRRARSLHL AVQLKAQPLD KLGFVVDVEA GSRCFRLLFP SNRETLPDPC
PVPYGSLQLA EHPHALAGRP GLRLLWRRRV YSAQGSSPPL PLPGTVPDPH TLAVETALWK
QLLELVELQR WPEAAALIQE KGEASQRREL VQVQRSHCGH FLEVARELGS GDTLQVQLGT
SLQHGFLVPS PQLWTVAPGF SLCLEHVERP GDCFSGRVYR APRDRYRDVD EYACVWEPFC
ALESATGAVA ENDSVTLQHL SVSWEASRTP QGQLQGAFRL EAAFLEENCA DINFSCCYLC
IRLEGLPAPT ASPRPGPSSL GPGLNVDPGT YTWVAHGQTE DWDQERRADR QEAPRRVHLF
VHHMGMEKVP EEVLRPGTLF TVELLPKQLP DLRKEEAVRG LEEASPLVTS IALGRPVPQP
LCRVIPSRFL ERQTYNIPGG RHKLNPSQNV AVREALEKPF TVIQGPPGTG KTIVGLHIVF
WFHKSNQEQV QPGGPPRGEK RLGGPCILYC GPSNKSVDVL AGLLLRRMEL KPLRVYSEQA
EASEFPVPRV GSRKLLRKSP REGRPNQSLR SITLHHRIRQ APNPYSSEIK AFDTRLQRGE
LFSREDLVWY KKVLWEARKF ELDRHEVILC TCSCAASASL KILDVRQILV DEAGMATEPE
TLIPLVQFPQ AEKVVLLGDH KQLRPVVKNE RLQNLGLDRS LFERYHEDAH MLDTQYRMHE
GICAFPSVAF YKSKLKTWQG LRRPPSVLGH AGKESCPVIF GHVQGHERSL LVSTDEGNEN
SKANLEEVAE VVRITKQLTL GRTVEPQDIA VLTPYNAQAS EISKALRREG IAGVAVSSIT
KSQGSEWRYV LVSTVRTCAK SDLDQRPTKS WLKKFLGFVV DPNQVNVAVT RAQEGLCLIG
DHLLLRCCPL WRSLLDFCEA QQTLVPAGQV RVCRRPTMPS *
speed 0.92 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