Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999652757322094 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
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 ENST00000544040
Genbank transcript ID N/A
UniProt peptide Q14839
alteration type single base exchange
alteration region CDS
DNA changes c.396G>T
cDNA.599G>T
g.5496G>T
AA changes E132D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 132
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      132SKSKRKEEEEEEDDDDDSKEPKSS
mutated  all conserved    132SKSKRKEEEEEDDDDDDSKEPKS
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  128ASKRREPEEEEDEDDDDSEPKS
Dmelanogaster  not conserved  FBgn0262519  133SASSGMPSVED----------
Celegans  not conserved  T14G8.1  78GK---KSSKKKNNC
Xtropicalis  all conserved  ENSXETG00000018961  107SKAKRGPVAKKKKCSVCLKEP
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5718 / 5718
position (AA) of stopcodon in wt / mu AA sequence 1906 / 1906
position of stopcodon in wt / mu cDNA 5921 / 5921
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 204 / 204
chromosome 12
strand -1
last intron/exon boundary 5904
theoretical NMD boundary in CDS 5650
length of CDS 5718
coding sequence (CDS) position 396
cDNA position
(for ins/del: last normal base / first normal base)		 599
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 PHPENEEDPE EDLSETETPK LKKKKKPKKP
RDPKIPKSKR QKKELGDSSG EGPEFVEEEE EVALRSDSEG SDYTPGKKKK KKLGPKKEKK
SKSKRKEEEE EEDDDDDSKE PKSSAQLLED WGMEDIDHVF SEEDYRTLTN YKAFSQFVRP
LIAAKNPKIA VSKMMMVLGA KWREFSTNNP FKGSSGASVA AAAAAAVAVV ESMVTATEVA
PPPPPVEVPI RKAKTKEGKG PNARRKPKGS PRVPDAKKPK PKKVAPLKIK LGGFGSKRKR
SSSEDDDLDV ESDFDDASIN SYSVSDGSTS RSSRSRKKLR TTKKKKKGEE EVTAVDGYET
DHQDYCEVCQ QGGEIILCDT CPRAYHMVCL DPDMEKAPEG KWSCPHCEKE GIQWEAKEDN
SEGEEILEEV GGDLEEEDDH HMEFCRVCKD GGELLCCDTC PSSYHIHCLN PPLPEIPNGE
WLCPRCTCPA LKGKVQKILI WKWGQPPSPT PVPRPPDADP NTPSPKPLEG RPERQFFVKW
QGMSYWHCSW VSELQLELHC QVMFRNYQRK NDMDEPPSGD FGGDEEKSRK RKNKDPKFAE
MEERFYRYGI KPEWMMIHRI LNHSVDKKGH VHYLIKWRDL PYDQASWESE DVEIQDYDLF
KQSYWNHREL MRGEEGRPGK KLKKVKLRKL ERPPETPTVD PTVKYERQPE YLDATGGTLH
PYQMEGLNWL RFSWAQGTDT ILADEMGLGK TVQTAVFLYS LYKEGHSKGP FLVSAPLSTI
INWEREFEMW APDMYVVTYV GDKDSRAIIR ENEFSFEDNA IRGGKKASRM KKEASVKFHV
LLTSYELITI DMAILGSIDW ACLIVDEAHR LKNNQSKFFR VLNGYSLQHK LLLTGTPLQN
NLEELFHLLN FLTPERFHNL EGFLEEFADI AKEDQIKKLH DMLGPHMLRR LKADVFKNMP
SKTELIVRVE LSPMQKKYYK YILTRNFEAL NARGGGNQVS LLNVVMDLKK CCNHPYLFPV
AAMEAPKMPN GMYDGSALIR ASGKLLLLQK MLKNLKEGGH RVLIFSQMTK MLDLLEDFLE
HEGYKYERID GGITGNMRQE AIDRFNAPGA QQFCFLLSTR AGGLGINLAT ADTVIIYDSD
WNPHNDIQAF SRAHRIGQNK KVMIYRFVTR ASVEERITQV AKKKMMLTHL VVRPGLGSKT
GSMSKQELDD ILKFGTEELF KDEATDGGGD NKEGEDSSVI HYDDKAIERL LDRNQDETED
TELQGMNEYL SSFKVAQYVV REEEMGEEEE VEREIIKQEE SVDPDYWEKL LRHHYEQQQE
DLARNLGKGK RIRKQVNYND GSQEDRDWQD DQSDNQSDYS VASEEGDEDF DERSEAPRRP
SRKGLRNDKD KPLPPLLARV GGNIEVLGFN ARQRKAFLNA IMRYGMPPQD AFTTQWLVRD
LRGKSEKEFK AYVSLFMRHL CEPGADGAET FADGVPREGL SRQHVLTRIG VMSLIRKKVQ
EFEHVNGRWS MPELAEVEEN KKMSQPGSPS PKTPTPSTPG DTQPNTPAPV PPAEDGIKIE
ENSLKEEESI EGEKEVKSTA PETAIECTQA PAPASEDEKV VVEPPEGEEK VEKAEVKERT
EEPMETEPKG AADVEKVEEK SAIDLTPIVV EDKEEKKEEE EKKEVMLQNG ETPKDLNDEK
QKKNIKQRFM FNIADGGFTE LHSLWQNEER AATVTKKTYE IWHRRHDYWL LAGIINHGYA
RWQDIQNDPR YAILNEPFKG EMNRGNFLEI KNKFLARRFK LLEQALVIEE QLRRAAYLNM
SEDPSHPSMA LNTRFAEVEC LAESHQHLSK ESMAGNKPAN AVLHKVLKQL EELLSDMKAD
VTRLPATIAR IPPVAVRLQM SERNILSRLA NRAPEPTPQQ VAQQQ*
mutated AA sequence MASGLGSPSP CSAGSEEEDM DALLNNSLPP PHPENEEDPE EDLSETETPK LKKKKKPKKP
RDPKIPKSKR QKKELGDSSG EGPEFVEEEE EVALRSDSEG SDYTPGKKKK KKLGPKKEKK
SKSKRKEEEE EDDDDDDSKE PKSSAQLLED WGMEDIDHVF SEEDYRTLTN YKAFSQFVRP
LIAAKNPKIA VSKMMMVLGA KWREFSTNNP FKGSSGASVA AAAAAAVAVV ESMVTATEVA
PPPPPVEVPI RKAKTKEGKG PNARRKPKGS PRVPDAKKPK PKKVAPLKIK LGGFGSKRKR
SSSEDDDLDV ESDFDDASIN SYSVSDGSTS RSSRSRKKLR TTKKKKKGEE EVTAVDGYET
DHQDYCEVCQ QGGEIILCDT CPRAYHMVCL DPDMEKAPEG KWSCPHCEKE GIQWEAKEDN
SEGEEILEEV GGDLEEEDDH HMEFCRVCKD GGELLCCDTC PSSYHIHCLN PPLPEIPNGE
WLCPRCTCPA LKGKVQKILI WKWGQPPSPT PVPRPPDADP NTPSPKPLEG RPERQFFVKW
QGMSYWHCSW VSELQLELHC QVMFRNYQRK NDMDEPPSGD FGGDEEKSRK RKNKDPKFAE
MEERFYRYGI KPEWMMIHRI LNHSVDKKGH VHYLIKWRDL PYDQASWESE DVEIQDYDLF
KQSYWNHREL MRGEEGRPGK KLKKVKLRKL ERPPETPTVD PTVKYERQPE YLDATGGTLH
PYQMEGLNWL RFSWAQGTDT ILADEMGLGK TVQTAVFLYS LYKEGHSKGP FLVSAPLSTI
INWEREFEMW APDMYVVTYV GDKDSRAIIR ENEFSFEDNA IRGGKKASRM KKEASVKFHV
LLTSYELITI DMAILGSIDW ACLIVDEAHR LKNNQSKFFR VLNGYSLQHK LLLTGTPLQN
NLEELFHLLN FLTPERFHNL EGFLEEFADI AKEDQIKKLH DMLGPHMLRR LKADVFKNMP
SKTELIVRVE LSPMQKKYYK YILTRNFEAL NARGGGNQVS LLNVVMDLKK CCNHPYLFPV
AAMEAPKMPN GMYDGSALIR ASGKLLLLQK MLKNLKEGGH RVLIFSQMTK MLDLLEDFLE
HEGYKYERID GGITGNMRQE AIDRFNAPGA QQFCFLLSTR AGGLGINLAT ADTVIIYDSD
WNPHNDIQAF SRAHRIGQNK KVMIYRFVTR ASVEERITQV AKKKMMLTHL VVRPGLGSKT
GSMSKQELDD ILKFGTEELF KDEATDGGGD NKEGEDSSVI HYDDKAIERL LDRNQDETED
TELQGMNEYL SSFKVAQYVV REEEMGEEEE VEREIIKQEE SVDPDYWEKL LRHHYEQQQE
DLARNLGKGK RIRKQVNYND GSQEDRDWQD DQSDNQSDYS VASEEGDEDF DERSEAPRRP
SRKGLRNDKD KPLPPLLARV GGNIEVLGFN ARQRKAFLNA IMRYGMPPQD AFTTQWLVRD
LRGKSEKEFK AYVSLFMRHL CEPGADGAET FADGVPREGL SRQHVLTRIG VMSLIRKKVQ
EFEHVNGRWS MPELAEVEEN KKMSQPGSPS PKTPTPSTPG DTQPNTPAPV PPAEDGIKIE
ENSLKEEESI EGEKEVKSTA PETAIECTQA PAPASEDEKV VVEPPEGEEK VEKAEVKERT
EEPMETEPKG AADVEKVEEK SAIDLTPIVV EDKEEKKEEE EKKEVMLQNG ETPKDLNDEK
QKKNIKQRFM FNIADGGFTE LHSLWQNEER AATVTKKTYE IWHRRHDYWL LAGIINHGYA
RWQDIQNDPR YAILNEPFKG EMNRGNFLEI KNKFLARRFK LLEQALVIEE QLRRAAYLNM
SEDPSHPSMA LNTRFAEVEC LAESHQHLSK ESMAGNKPAN AVLHKVLKQL EELLSDMKAD
VTRLPATIAR IPPVAVRLQM SERNILSRLA NRAPEPTPQQ VAQQQ*
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