Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999999998621 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM070642)
  • known disease mutation: rs5356 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:134132450G>AN/A show variant in all transcripts   IGV
HGNC symbol ACAD8
Ensembl transcript ID ENST00000281182
Genbank transcript ID NM_014384
UniProt peptide Q9UKU7
alteration type single base exchange
alteration region CDS
DNA changes c.1129G>A
cDNA.1235G>A
g.9062G>A
AA changes G377S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 377
frameshift no
known variant Reference ID: rs121908419
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC01010

known disease mutation: rs5356 (pathogenic for Deficiency of isobutyryl-CoA dehydrogenase|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM070642)

known disease mutation at this position, please check HGMD for details (HGMD ID CM070642)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070642)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4880.828
6.2161
(flanking)6.2161
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased9067wt: 0.80 / mu: 0.94wt: GGCTACCTGAAGGAT
mu: AGCTACCTGAAGGAT		 CTAC|ctga
Donor increased9062wt: 0.38 / mu: 0.90wt: GCTACGGCTACCTGA
mu: GCTACAGCTACCTGA		 TACG|gcta
distance from splice site 37
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      377CNQALQMHGGYGYLKDYAVQQYVR
mutated  not conserved    377CNQALQMHGGYSYLKDYAVQQYV
Ptroglodytes  all identical  ENSPTRG00000004496  377CNQALQMHGGYGYLKDYAVQQYV
Mmulatta  all identical  ENSMMUG00000007107  377CNQALQMHGGYGYLKDYAVQQYM
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031969  375CNQALQMHGGYGYLKDYAVQQYM
Ggallus  all identical  ENSGALG00000001557  374CNQALQMHGGYGYLKDYAVQQFV
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000042658  379CNQALQIHGGYGYLKDYAVQQYV
Dmelanogaster  no homologue    
Celegans  all identical  F28A10.6  365GYGFLKDYPVQQYL
Xtropicalis  all identical  ENSXETG00000008327  378CNQALQMHGGYGYLKDYAVQQ
protein features
start (aa)end (aa)featuredetails 
373378HELIXlost
384393HELIXmight get lost (downstream of altered splice site)
394396TURNmight get lost (downstream of altered splice site)
397399STRANDmight get lost (downstream of altered splice site)
398398ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
399399BINDINGSubstrate; via amide nitrogen.might get lost (downstream of altered splice site)
400402NP_BINDFAD.might get lost (downstream of altered splice site)
401414HELIXmight get lost (downstream of altered splice site)
410410BINDINGSubstrate.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1248 / 1248
position (AA) of stopcodon in wt / mu AA sequence 416 / 416
position of stopcodon in wt / mu cDNA 1354 / 1354
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 107 / 107
chromosome 11
strand 1
last intron/exon boundary 1302
theoretical NMD boundary in CDS 1145
length of CDS 1248
coding sequence (CDS) position 1129
cDNA position
(for ins/del: last normal base / first normal base)		 1235
gDNA position
(for ins/del: last normal base / first normal base)		 9062
chromosomal position
(for ins/del: last normal base / first normal base)		 134132450
original gDNA sequence snippet TGCAGATGCACGGGGGCTACGGCTACCTGAAGGATTACGCT
altered gDNA sequence snippet TGCAGATGCACGGGGGCTACAGCTACCTGAAGGATTACGCT
original cDNA sequence snippet TGCAGATGCACGGGGGCTACGGCTACCTGAAGGATTACGCT
altered cDNA sequence snippet TGCAGATGCACGGGGGCTACAGCTACCTGAAGGATTACGCT
wildtype AA sequence MLWSGCRRFG ARLGCLPGGL RVLVQTGHRS LTSCIDPSMG LNEEQKEFQK VAFDFAAREM
APNMAEWDQK ELFPVDVMRK AAQLGFGGVY IQTDVGGSGL SRLDTSVIFE ALATGCTSTT
AYISIHNMCA WMIDSFGNEE QRHKFCPPLC TMEKFASYCL TEPGSGSDAA SLLTSAKKQG
DHYILNGSKA FISGAGESDI YVVMCRTGGP GPKGISCIVV EKGTPGLSFG KKEKKVGWNS
QPTRAVIFED CAVPVANRIG SEGQGFLIAV RGLNGGRINI ASCSLGAAHA SVILTRDHLN
VRKQFGEPLA SNQYLQFTLA DMATRLVAAR LMVRNAAVAL QEERKDAVAL CSMAKLFATD
ECFAICNQAL QMHGGYGYLK DYAVQQYVRD SRVHQILEGS NEVMRILISR SLLQE*
mutated AA sequence MLWSGCRRFG ARLGCLPGGL RVLVQTGHRS LTSCIDPSMG LNEEQKEFQK VAFDFAAREM
APNMAEWDQK ELFPVDVMRK AAQLGFGGVY IQTDVGGSGL SRLDTSVIFE ALATGCTSTT
AYISIHNMCA WMIDSFGNEE QRHKFCPPLC TMEKFASYCL TEPGSGSDAA SLLTSAKKQG
DHYILNGSKA FISGAGESDI YVVMCRTGGP GPKGISCIVV EKGTPGLSFG KKEKKVGWNS
QPTRAVIFED CAVPVANRIG SEGQGFLIAV RGLNGGRINI ASCSLGAAHA SVILTRDHLN
VRKQFGEPLA SNQYLQFTLA DMATRLVAAR LMVRNAAVAL QEERKDAVAL CSMAKLFATD
ECFAICNQAL QMHGGYSYLK DYAVQQYVRD SRVHQILEGS NEVMRILISR SLLQE*
speed 1.08 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