Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999998404707      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM024497)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:134131232G>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.905G>A
cDNA.1011G>A
g.7844G>A
AA changes R302Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 302
frameshift no
known variant Reference ID: rs121908422
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC055

known disease mutation at this position, please check HGMD for details (HGMD ID CM024497)

known disease mutation at this position, please check HGMD for details (HGMD ID CM024497)
known disease mutation at this position, please check HGMD for details (HGMD ID CM024497)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.7991
5.5831
(flanking)-1.2620.306
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased7842wt: 0.9345 / mu: 0.9522 (marginal change - not scored)wt: AATGTCCGGAAGCAG
mu: AATGTCCAGAAGCAG		 TGTC|cgga
Donor gained78440.45mu: TGTCCAGAAGCAGTT TCCA|gaag
Donor gained78390.66mu: CTCAATGTCCAGAAG CAAT|gtcc
distance from splice site 35
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      302SVILTRDHLNVRKQFGEPLASNQY
mutated  all conserved    302VQKQFGEPLASNQ
Ptroglodytes  all identical  ENSPTRG00000004496  302VRKQFGEPLASNQ
Mmulatta  all identical  ENSMMUG00000007107  302VRKQFGEPLASNQ
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031969  300VRKQFGAPLARSQ
Ggallus  all identical  ENSGALG00000001557  299SVLLAQEHLTVRKQFGEPLASNQ
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000042658  304SVLLARDHMCVRKQFGETLANSQ
Dmelanogaster  no homologue    
Celegans  all identical  F28A10.6  290SMDLAIEHLKYRKQFGKSLADFQ
Xtropicalis  all identical  ENSXETG00000008327  301SVLLARDHLGVRKQFGEPLSHNQ
protein features
start (aa)end (aa)featuredetails 
265301HELIXmight get lost (downstream of altered splice site)
302302BINDINGFAD; shared with dimeric partner.lost
309311HELIXmight get lost (downstream of altered splice site)
312313NP_BINDFAD; shared with dimeric partner.might get lost (downstream of altered splice site)
313341HELIXmight get lost (downstream of altered splice site)
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 905
cDNA position
(for ins/del: last normal base / first normal base)		 1011
gDNA position
(for ins/del: last normal base / first normal base)		 7844
chromosomal position
(for ins/del: last normal base / first normal base)		 134131232
original gDNA sequence snippet CCGAGACCACCTCAATGTCCGGAAGCAGTTTGGAGAGCCTC
altered gDNA sequence snippet CCGAGACCACCTCAATGTCCAGAAGCAGTTTGGAGAGCCTC
original cDNA sequence snippet CCGAGACCACCTCAATGTCCGGAAGCAGTTTGGAGAGCCTC
altered cDNA sequence snippet CCGAGACCACCTCAATGTCCAGAAGCAGTTTGGAGAGCCTC
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
VQKQFGEPLA SNQYLQFTLA DMATRLVAAR LMVRNAAVAL QEERKDAVAL CSMAKLFATD
ECFAICNQAL QMHGGYGYLK DYAVQQYVRD SRVHQILEGS NEVMRILISR SLLQE*
speed 1.02 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