Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999913376464669 (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
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:6711147C>AN/A show variant in all transcripts   IGV
HGNC symbol CHD4
Ensembl transcript ID ENST00000544484
Genbank transcript ID N/A
UniProt peptide Q14839
alteration type single base exchange
alteration region CDS
DNA changes c.408G>T
cDNA.555G>T
g.5496G>T
AA changes E136D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 136
frameshift no
known variant Reference ID: rs1639122
databasehomozygous (A/A)heterozygousallele carriers
1000G8909901880
ExAC81501646724617
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.9250.964
-1.4890.204
(flanking)4.6210.998
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      136SKSKRKEEEEEEDDDDDSKEPKSS
mutated  all conserved    136SKSKRKEEEEEDDDDDDSKEPKS
Ptroglodytes  no homologue    
Mmulatta  all conserved  ENSMMUG00000018685  139SKSKRKEEEEEDDDDDDSKEPKS
Fcatus  all conserved  ENSFCAG00000006877  105SKSKRKEEEEEDDDDDDSKEPKS
Mmusculus  all identical  ENSMUSG00000063870  139SKSKRKEEEEEEDEDDDSKEPKS
Ggallus  all identical  ENSGALG00000013565  109SKAKRKEEEDEEEEDDDSKEPKS
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000063535  126AASKRREPEEEEDEDDDDSEPKS
Dmelanogaster  not conserved  FBgn0262519  128VED------------
Celegans  not conserved  T14G8.1  78GK---KSSKKKNNC
Xtropicalis  all conserved  ENSXETG00000018961  107SKAKRGPVAKKKKCSVCL
protein features
start (aa)end (aa)featuredetails 
134138COMPBIASPoly-Glu.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5814 / 5814
position (AA) of stopcodon in wt / mu AA sequence 1938 / 1938
position of stopcodon in wt / mu cDNA 5961 / 5961
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 148 / 148
chromosome 12
strand -1
last intron/exon boundary 5944
theoretical NMD boundary in CDS 5746
length of CDS 5814
coding sequence (CDS) position 408
cDNA position
(for ins/del: last normal base / first normal base)		 555
gDNA position
(for ins/del: last normal base / first normal base)		 5496
chromosomal position
(for ins/del: last normal base / first normal base)		 6711147
original gDNA sequence snippet AAGGAGGAGGAGGAGGAGGAGGATGATGATGATGATTCAAA
altered gDNA sequence snippet AAGGAGGAGGAGGAGGAGGATGATGATGATGATGATTCAAA
original cDNA sequence snippet AAGGAGGAGGAGGAGGAGGAGGATGATGATGATGATTCAAA
altered cDNA sequence snippet AAGGAGGAGGAGGAGGAGGATGATGATGATGATGATTCAAA
wildtype AA sequence MASGLGSPSP CSAGSEEEDM DALLNNSLPP PHPEDPEEDL SETETPKLKK KKKPKKPRDP
KIPKSKRQKK ERMLLCRQLG DSSGEGPEFV EEEEEVALRS DSEGSDYTPG KKKKKKLGPK
KEKKSKSKRK EEEEEEDDDD DSKEPKSSAQ LLEDWGMEDI DHVFSEEDYR TLTNYKAFSQ
FVRPLIAAKN PKIAVSKMMM VLGAKWREFS TNNPFKGSSG ASVAAAAAAA VAVVESMVTA
TEVAPPPPPV EVPIRKAKTK EGKGPNARRK PKGSPRVPDA KKPKPKKVAP LKIKLGGFGS
KRKRSSSEDD DLDVESDFDD ASINSYSVSD GSTSRSSRSR KKLRTTKKKK KGEEEVTAVD
GYETDHQDYC EVCQQGGEII LCDTCPRAYH MVCLDPDMEK APEGKWSCPH CEKEGIQWEA
KEDNSEGEEI LEEVGGDLEE EDDHHMEFCR VCKDGGELLC CDTCPSSYHI HCLNPPLPEI
PNGEWLCPRC TCPALKGKVQ KILIWKWGQP PSPTPVPRPP DADPNTPSPK PLEGRPERQF
FVKWQGMSYW HCSWVSELQL ELHCQVMFRN YQRKNDMDEP PSGDFGGDEE KSRKRKNKDP
KFAEMEERFY RYGIKPEWMM IHRILNHSVD KKGHVHYLIK WRDLPYDQAS WESEDVEIQD
YDLFKQSYWN HRELMRGEEG RPGKKLKKVK LRKLERPPET PTVDPTVKYE RQPEYLDATG
GTLHPYQMEG LNWLRFSWAQ GTDTILADEM GLGKTVQTAV FLYSLYKEGH SKGPFLVSAP
LSTIINWERE FEMWAPDMYV VTYVGDKDSR AIIRENEFSF EDNAIRGGKK ASRMKKEASV
KFHVLLTSYE LITIDMAILG SIDWACLIVD EAHRLKNNQS KFFRVLNGYS LQHKLLLTGT
PLQNNLEELF HLLNFLTPER FHNLEGFLEE FADIAKEDQI KKLHDMLGPH MLRRLKADVF
KNMPSKTELI VRVELSPMQK KYYKYILTRN FEALNARGGG NQVSLLNVVM DLKKCCNHPY
LFPVAAMEAP KMPNGMYDGS ALIRASGKLL LLQKMLKNLK EGGHRVLIFS QMTKMLDLLE
DFLEHEGYKY ERIDGGITGN MRQEAIDRFN APGAQQFCFL LSTRAGGLGI NLATADTVII
YDSDWNPHND IQAFSRAHRI GQNKKVMIYR FVTRASVEER ITQVAKKKMM LTHLVVRPGL
GSKTGSMSKQ ELDDILKFGT EELFKDEATD GGGDNKEGED SSVIHYDDKA IERLLDRNQD
ETEDTELQGM NEYLSSFKVA QYVVREEEMG EEEEVEREII KQEESVDPDY WEKLLRHHYE
QQQEDLARNL GKGKRIRKQV NYNDGSQEDR GVCGRPRPPP MGRSTRAVGP AHLPSLPPDW
QDDQSDNQSD YSVASEEGDE DFDERSEAPR RPSRKGLRND KDKPLPPLLA RVGGNIEVLG
FNARQRKAFL NAIMRYGMPP QDAFTTQWLV RDLRGKSEKE FKAYVSLFMR HLCEPGADGA
ETFADGVPRE GLSRQHVLTR IGVMSLIRKK VQEFEHVNGR WSMPELAEVE ENKKMSQPGS
PSPKTPTPST PGDTQPNTPA PVPPAEDGIK IEENSLKEEE SIEGEKEVKS TAPETAIECT
QAPAPASEDE KVVVEPPEGE EKVEKAEVKE RTEEPMETEP KGAADVEKVE EKSAIDLTPI
VVEDKEEKKE EEEKKEVMLQ NGETPKDLND EKQKKNIKQR FMFNIADGGF TELHSLWQNE
ERAATVTKKT YEIWHRRHDY WLLAGIINHG YARWQDIQND PRYAILNEPF KGEMNRGNFL
EIKNKFLARR FKLLEQALVI EEQLRRAAYL NMSEDPSHPS MALNTRFAEV ECLAESHQHL
SKESMAGNKP ANAVLHKVLK QLEELLSDMK ADVTRLPATI ARIPPVAVRL QMSERNILSR
LANRAPEPTP QQVAQQQ*
mutated AA sequence MASGLGSPSP CSAGSEEEDM DALLNNSLPP PHPEDPEEDL SETETPKLKK KKKPKKPRDP
KIPKSKRQKK ERMLLCRQLG DSSGEGPEFV EEEEEVALRS DSEGSDYTPG KKKKKKLGPK
KEKKSKSKRK EEEEEDDDDD DSKEPKSSAQ LLEDWGMEDI DHVFSEEDYR TLTNYKAFSQ
FVRPLIAAKN PKIAVSKMMM VLGAKWREFS TNNPFKGSSG ASVAAAAAAA VAVVESMVTA
TEVAPPPPPV EVPIRKAKTK EGKGPNARRK PKGSPRVPDA KKPKPKKVAP LKIKLGGFGS
KRKRSSSEDD DLDVESDFDD ASINSYSVSD GSTSRSSRSR KKLRTTKKKK KGEEEVTAVD
GYETDHQDYC EVCQQGGEII LCDTCPRAYH MVCLDPDMEK APEGKWSCPH CEKEGIQWEA
KEDNSEGEEI LEEVGGDLEE EDDHHMEFCR VCKDGGELLC CDTCPSSYHI HCLNPPLPEI
PNGEWLCPRC TCPALKGKVQ KILIWKWGQP PSPTPVPRPP DADPNTPSPK PLEGRPERQF
FVKWQGMSYW HCSWVSELQL ELHCQVMFRN YQRKNDMDEP PSGDFGGDEE KSRKRKNKDP
KFAEMEERFY RYGIKPEWMM IHRILNHSVD KKGHVHYLIK WRDLPYDQAS WESEDVEIQD
YDLFKQSYWN HRELMRGEEG RPGKKLKKVK LRKLERPPET PTVDPTVKYE RQPEYLDATG
GTLHPYQMEG LNWLRFSWAQ GTDTILADEM GLGKTVQTAV FLYSLYKEGH SKGPFLVSAP
LSTIINWERE FEMWAPDMYV VTYVGDKDSR AIIRENEFSF EDNAIRGGKK ASRMKKEASV
KFHVLLTSYE LITIDMAILG SIDWACLIVD EAHRLKNNQS KFFRVLNGYS LQHKLLLTGT
PLQNNLEELF HLLNFLTPER FHNLEGFLEE FADIAKEDQI KKLHDMLGPH MLRRLKADVF
KNMPSKTELI VRVELSPMQK KYYKYILTRN FEALNARGGG NQVSLLNVVM DLKKCCNHPY
LFPVAAMEAP KMPNGMYDGS ALIRASGKLL LLQKMLKNLK EGGHRVLIFS QMTKMLDLLE
DFLEHEGYKY ERIDGGITGN MRQEAIDRFN APGAQQFCFL LSTRAGGLGI NLATADTVII
YDSDWNPHND IQAFSRAHRI GQNKKVMIYR FVTRASVEER ITQVAKKKMM LTHLVVRPGL
GSKTGSMSKQ ELDDILKFGT EELFKDEATD GGGDNKEGED SSVIHYDDKA IERLLDRNQD
ETEDTELQGM NEYLSSFKVA QYVVREEEMG EEEEVEREII KQEESVDPDY WEKLLRHHYE
QQQEDLARNL GKGKRIRKQV NYNDGSQEDR GVCGRPRPPP MGRSTRAVGP AHLPSLPPDW
QDDQSDNQSD YSVASEEGDE DFDERSEAPR RPSRKGLRND KDKPLPPLLA RVGGNIEVLG
FNARQRKAFL NAIMRYGMPP QDAFTTQWLV RDLRGKSEKE FKAYVSLFMR HLCEPGADGA
ETFADGVPRE GLSRQHVLTR IGVMSLIRKK VQEFEHVNGR WSMPELAEVE ENKKMSQPGS
PSPKTPTPST PGDTQPNTPA PVPPAEDGIK IEENSLKEEE SIEGEKEVKS TAPETAIECT
QAPAPASEDE KVVVEPPEGE EKVEKAEVKE RTEEPMETEP KGAADVEKVE EKSAIDLTPI
VVEDKEEKKE EEEKKEVMLQ NGETPKDLND EKQKKNIKQR FMFNIADGGF TELHSLWQNE
ERAATVTKKT YEIWHRRHDY WLLAGIINHG YARWQDIQND PRYAILNEPF KGEMNRGNFL
EIKNKFLARR FKLLEQALVI EEQLRRAAYL NMSEDPSHPS MALNTRFAEV ECLAESHQHL
SKESMAGNKP ANAVLHKVLK QLEELLSDMK ADVTRLPATI ARIPPVAVRL QMSERNILSR
LANRAPEPTP QQVAQQQ*
speed 0.82 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