Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999936582879      (explain)
Summary
  • amino acid sequence changed
  • known as potential disease variant: rs5357 (probable pathogenic)
  • known disease mutation at this position (HGMD CM063826)
  • protein features (might be) affected
  • 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 ENST00000281182
Genbank transcript ID NM_014384
UniProt peptide Q9UKU7
alteration type single base exchange
alteration region CDS
DNA changes c.988C>T
cDNA.1094C>T
g.8292C>T
AA changes R330W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 330
frameshift no
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
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained82850.89mu: CTGGTGGCCGCGTGG GGTG|gccg
distance from splice site 49
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      330LADMATRLVAARLMVRNAAVALQE
mutated  not conserved    330LADMATRLVAAWLMVRNAAVALQ
Ptroglodytes  all identical  ENSPTRG00000004496  330LADMATRLVAARLMVRNAAVALQ
Mmulatta  all identical  ENSMMUG00000007107  330LADMATRLVAARLMIRNAAVALQ
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031969  328LADMATKLVASRLMIRTAAVALQ
Ggallus  all identical  ENSGALG00000001557  327ARLVVRNAARALQ
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000042658  332SRLLVRQAALALQ
Dmelanogaster  no homologue    
Celegans  all identical  F28A10.6  318LAELATKLYTSRLIVRNAAEQLD
Xtropicalis  all identical  ENSXETG00000008327  331VTARLIVRHAAQALQ
protein features
start (aa)end (aa)featuredetails 
313341HELIXlost
347372HELIXmight get lost (downstream of altered splice site)
371375NP_BINDFAD; shared with dimeric partner.might get lost (downstream of altered splice site)
373378HELIXmight get lost (downstream of altered splice site)
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 988
cDNA position
(for ins/del: last normal base / first normal base)		 1094
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 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 DMATRLVAAW LMVRNAAVAL QEERKDAVAL CSMAKLFATD
ECFAICNQAL QMHGGYGYLK DYAVQQYVRD SRVHQILEGS NEVMRILISR SLLQE*
speed 1.25 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