Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999991 (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) chr5:96086334G>CN/A show variant in all transcripts   IGV
HGNC symbol CAST
Ensembl transcript ID ENST00000511049
Genbank transcript ID N/A
UniProt peptide P20810
alteration type single base exchange
alteration region CDS
DNA changes c.1181G>C
cDNA.1418G>C
g.220810G>C
AA changes C394S Score: 112 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 394
frameshift no
known variant Reference ID: rs754615
databasehomozygous (C/C)heterozygousallele carriers
1000G2499731222
ExAC72651823725502
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9030.006
1.1160.006
(flanking)0.0140.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased220802wt: 0.48 / mu: 0.63wt: TCGGAGGCTGTGTGT
mu: TCGGAGGCTGTGTCT		 GGAG|gctg
distance from splice site 44
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      394AAAPAPVSEAVCRTSMCSIQSAPP
mutated  not conserved    394AAAPAPVSEAVSRTSMCSIQSAP
Ptroglodytes  not conserved  ENSPTRG00000017093  386ATAPAPVAEAVSQTSMCSIQSAP
Mmulatta  not conserved  ENSMMUG00000002062  408AAAPAPVAEAVSRTSMCSIQSAP
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021585  454DTSQTPPGETVPRASMCSIRSAP
Ggallus  not conserved  ENSGALG00000014682  373ASTKTAKDEVVPRATACSVQSSA
Trubripes  not conserved  ENSTRUG00000014934  266SAGAASKLEGKSKSKSRSKKQQP
Drerio  not conserved  ENSDARG00000058693  469KHAAVPEKTKDIPKTKADALSSDFVAPAHSAP
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000013262  628KKAEKEVVAASSATVKAA
protein features
start (aa)end (aa)featuredetails 
446499REPEATInhibitory domain 3.might get lost (downstream of altered splice site)
467467CONFLICTR -> L (in Ref. 10; AAC50136).might get lost (downstream of altered splice site)
486488CONFLICTVKD -> GKE (in Ref. 10; AAC50136).might get lost (downstream of altered splice site)
543543CONFLICTV -> L (in Ref. 10; AAC50136).might get lost (downstream of altered splice site)
562562CONFLICTMissing (in Ref. 13; AAB60371).might get lost (downstream of altered splice site)
583636REPEATInhibitory domain 4.might get lost (downstream of altered splice site)
629629MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
651651CONFLICTI -> V (in Ref. 14; AAD09102).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2082 / 2082
position (AA) of stopcodon in wt / mu AA sequence 694 / 694
position of stopcodon in wt / mu cDNA 2319 / 2319
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 238 / 238
chromosome 5
strand 1
last intron/exon boundary 2343
theoretical NMD boundary in CDS 2055
length of CDS 2082
coding sequence (CDS) position 1181
cDNA position
(for ins/del: last normal base / first normal base)		 1418
gDNA position
(for ins/del: last normal base / first normal base)		 220810
chromosomal position
(for ins/del: last normal base / first normal base)		 96086334
original gDNA sequence snippet TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA
altered gDNA sequence snippet TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA
original cDNA sequence snippet TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA
altered cDNA sequence snippet TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA
wildtype AA sequence MEGPHLPNKK KHKKQAVKTE PEKKSQSTKL SVVHEKKSQE GKPKEHTEPK SLPKQASDTG
SNDAHNKKAV SRSAEQQPSE KSTEPKTKPQ DMISAGGESV AGITAISGKP GDKKKEKKSL
TPAVPVESKP DKPSGKSGMD AALDDLIDTL GGPEETEEEN TTYTGPEVSD PMSSTYIEEL
GKREVTIPPK YRELLAKKEG ITGPPADSSK PIGPDDAIDA LSSDFTCGSP TAAGKKTEKE
ESTEVLKAQS AGTVRSAAPP QEKKRKVEKD TMSDQALEAL SASLGTRQAE PELDLRSIKE
VDEAKAKEEK LEKCGEDDET IPSEYRLKPA TDKDGKPLLP EPEEKPKPRS ESELIDELSE
DFDRSECKEK PSKPTEKTEE SKAAAPAPVS EAVCRTSMCS IQSAPPEPAT LKGTVPDDAV
EALADSLGKK EADPEDGKPV MDKVKEKAKE EDREKLGEKE ETIPPDYRLE EVKDKDGKPL
LPKESKEQLP PMSEDFLLDA LSEDFSGPQN ASSLKFEDAK LAAAISEVVS QTPASTTQAG
APPRDTSSDK DLDDALDKLS DSLGQRQPDP DENKPMEDKV KEKAKAEHRD KLGERDDTIP
PEYRHLLDDN GQDKPVKPPT KKSEDSKKPA DDQDPIDALS GDLDSCPSTT ETSQNTAKDK
CKKAASSSKA PKNGGKAKDS AKTTEETSKP KDD*
mutated AA sequence MEGPHLPNKK KHKKQAVKTE PEKKSQSTKL SVVHEKKSQE GKPKEHTEPK SLPKQASDTG
SNDAHNKKAV SRSAEQQPSE KSTEPKTKPQ DMISAGGESV AGITAISGKP GDKKKEKKSL
TPAVPVESKP DKPSGKSGMD AALDDLIDTL GGPEETEEEN TTYTGPEVSD PMSSTYIEEL
GKREVTIPPK YRELLAKKEG ITGPPADSSK PIGPDDAIDA LSSDFTCGSP TAAGKKTEKE
ESTEVLKAQS AGTVRSAAPP QEKKRKVEKD TMSDQALEAL SASLGTRQAE PELDLRSIKE
VDEAKAKEEK LEKCGEDDET IPSEYRLKPA TDKDGKPLLP EPEEKPKPRS ESELIDELSE
DFDRSECKEK PSKPTEKTEE SKAAAPAPVS EAVSRTSMCS IQSAPPEPAT LKGTVPDDAV
EALADSLGKK EADPEDGKPV MDKVKEKAKE EDREKLGEKE ETIPPDYRLE EVKDKDGKPL
LPKESKEQLP PMSEDFLLDA LSEDFSGPQN ASSLKFEDAK LAAAISEVVS QTPASTTQAG
APPRDTSSDK DLDDALDKLS DSLGQRQPDP DENKPMEDKV KEKAKAEHRD KLGERDDTIP
PEYRHLLDDN GQDKPVKPPT KKSEDSKKPA DDQDPIDALS GDLDSCPSTT ETSQNTAKDK
CKKAASSSKA PKNGGKAKDS AKTTEETSKP KDD*
speed 1.11 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