Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1      (explain)
Summary
  • known as potential disease variant: rs5357 (probable pathogenic)
  • known disease mutation at this position (HGMD CM063826)
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:134131680C>TN/A show variant in all transcripts   IGV
HGNC symbol ACAD8
Ensembl transcript ID ENST00000543332
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region 3'UTR
DNA changes cDNA.992C>T
g.8292C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121908420
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known as potential disease variant: rs5357 (probable 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 CM063826)

known disease mutation at this position, please check HGMD for details (HGMD ID CM063826)
known disease mutation at this position, please check HGMD for details (HGMD ID CM063826)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
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)-4.6420
1.740.938
(flanking)6.1851
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change occurs after stopcodon (at aa 272)
effectgDNA positionscoredetection sequence  exon-intron border
Donor gained82850.89mu: CTGGTGGCCGCGTGG GGTG|gccg
distance from splice site 105
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal signal is predicted to be ok
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 168 / 168
chromosome 11
strand 1
last intron/exon boundary 1097
theoretical NMD boundary in CDS 879
length of CDS 681
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 992
gDNA position
(for ins/del: last normal base / first normal base)		 8292
chromosomal position
(for ins/del: last normal base / first normal base)		 134131680
original gDNA sequence snippet CAACAAGGCTGGTGGCCGCGCGGCTGATGGTCCGCAATGCA
altered gDNA sequence snippet CAACAAGGCTGGTGGCCGCGTGGCTGATGGTCCGCAATGCA
original cDNA sequence snippet CAACAAGGCTGGTGGCCGCGCGGCTGATGGTCCGCAATGCA
altered cDNA sequence snippet CAACAAGGCTGGTGGCCGCGTGGCTGATGGTCCGCAATGCA
wildtype AA sequence MKSRKNFKKW PLTLLPERWL QIWQSGTRSM CAWMIDSFGN EEQRHKFCPP LCTMEKFASY
CLTEPGSGSD AASLLTSAKK QGDHYILNGS KAFISGAGES DIYVVMCRTG GPGPKGISCI
VVEKGTPGLS FGKKEKKVGW NSQPTRAVIF EDCAVPVANR IGSEGQGFLI AVRGLNGGRI
NIASCSLGAA HASVILTRDH LNVRKQFGEP LASNQKKQET LKLWIT*
mutated AA sequence N/A
speed 1.12 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