Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999998414677 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM960009)
  • known disease mutation: rs1628 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:7126518A>CN/A show variant in all transcripts   IGV
HGNC symbol ACADVL
Ensembl transcript ID ENST00000356839
Genbank transcript ID NM_000018
UniProt peptide P49748
alteration type single base exchange
alteration region CDS
DNA changes c.1144A>C
cDNA.1323A>C
g.6075A>C
AA changes K382Q Score: 53 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 382
frameshift no
known variant Reference ID: rs118204015
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs1628 (pathogenic for Very long chain acyl-CoA dehydrogenase deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960009)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960009)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960009)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.9391
4.6281
(flanking)4.6281
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased6070wt: 0.2181 / mu: 0.2302 (marginal change - not scored)wt: TCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGG
mu: TCACAACTTTGGGCTGATCCAGGAGCAGCTGGCACGGATGG		 tcca|GGAG
Donor marginally increased6068wt: 0.5193 / mu: 0.5512 (marginal change - not scored)wt: CTGATCCAGGAGAAG
mu: CTGATCCAGGAGCAG		 GATC|cagg
distance from splice site 39
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      382EKIHNFGLIQEKLARMVMLQYVTE
mutated  all conserved    382EKIHNFGLIQEQLARMVMLQYVT
Ptroglodytes  all identical  ENSPTRG00000008664  405EKIHNFGLIQEKLARMVMLQYVT
Mmulatta  all identical  ENSMMUG00000010538  402EKIHNFGLIQEKLARMVMLQYVT
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000018574  383DKIHNFGVIQEKLARMAILQYVT
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000013710  384EKVAHMAMLHYTT
Drerio  all identical  ENSDARG00000016687  387NKIHNYGAIQEKMARMAMLQYVT
Dmelanogaster  all identical  FBgn0034432  355QKLKNYGSIQEKLAQMNILQYAT
Celegans  all identical  E04F6.5  350KKLQEFGNIQEKLVEMISKLYAT
Xtropicalis  all identical  ENSXETG00000031271  179SKLHQFGIIQEKLARMAVLQYVT
protein features
start (aa)end (aa)featuredetails 
41482REGIONCatalytic.lost
377405HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1968 / 1968
position (AA) of stopcodon in wt / mu AA sequence 656 / 656
position of stopcodon in wt / mu cDNA 2147 / 2147
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 180 / 180
chromosome 17
strand 1
last intron/exon boundary 2007
theoretical NMD boundary in CDS 1777
length of CDS 1968
coding sequence (CDS) position 1144
cDNA position
(for ins/del: last normal base / first normal base)		 1323
gDNA position
(for ins/del: last normal base / first normal base)		 6075
chromosomal position
(for ins/del: last normal base / first normal base)		 7126518
original gDNA sequence snippet ACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATG
altered gDNA sequence snippet ACTTTGGGCTGATCCAGGAGCAGCTGGCACGGATGGTTATG
original cDNA sequence snippet ACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATG
altered cDNA sequence snippet ACTTTGGGCTGATCCAGGAGCAGCTGGCACGGATGGTTATG
wildtype AA sequence MQAARMAASL GRQLLRLGGG SSRLTALLGQ PRPGPARRPY AGGAAQLALD KSDSHPSDAL
TRKKPAKAES KSFAVGMFKG QLTTDQVFPY PSVLNEEQTQ FLKELVEPVS RFFEEVNDPA
KNDALEMVEE TTWQGLKELG AFGLQVPSEL GGVGLCNTQY ARLVEIVGMH DLGVGITLGA
HQSIGFKGIL LFGTKAQKEK YLPKLASGET VAAFCLTEPS SGSDAASIRT SAVPSPCGKY
YTLNGSKLWI SNGGLADIFT VFAKTPVTDP ATGAVKEKIT AFVVERGFGG ITHGPPEKKM
GIKASNTAEV FFDGVRVPSE NVLGEVGSGF KVAMHILNNG RFGMAAALAG TMRGIIAKAV
DHATNRTQFG EKIHNFGLIQ EKLARMVMLQ YVTESMAYMV SANMDQGATD FQIEAAISKI
FGSEAAWKVT DECIQIMGGM GFMKEPGVER VLRDLRIFRI FEGTNDILRL FVALQGCMDK
GKELSGLGSA LKNPFGNAGL LLGEAGKQLR RRAGLGSGLS LSGLVHPELS RSGELAVRAL
EQFATVVEAK LIKHKKGIVN EQFLLQRLAD GAIDLYAMVV VLSRASRSLS EGHPTAQHEK
MLCDTWCIEA AARIREGMAA LQSDPWQQEL YRNFKSISKA LVERGGVVTS NPLGF*
mutated AA sequence MQAARMAASL GRQLLRLGGG SSRLTALLGQ PRPGPARRPY AGGAAQLALD KSDSHPSDAL
TRKKPAKAES KSFAVGMFKG QLTTDQVFPY PSVLNEEQTQ FLKELVEPVS RFFEEVNDPA
KNDALEMVEE TTWQGLKELG AFGLQVPSEL GGVGLCNTQY ARLVEIVGMH DLGVGITLGA
HQSIGFKGIL LFGTKAQKEK YLPKLASGET VAAFCLTEPS SGSDAASIRT SAVPSPCGKY
YTLNGSKLWI SNGGLADIFT VFAKTPVTDP ATGAVKEKIT AFVVERGFGG ITHGPPEKKM
GIKASNTAEV FFDGVRVPSE NVLGEVGSGF KVAMHILNNG RFGMAAALAG TMRGIIAKAV
DHATNRTQFG EKIHNFGLIQ EQLARMVMLQ YVTESMAYMV SANMDQGATD FQIEAAISKI
FGSEAAWKVT DECIQIMGGM GFMKEPGVER VLRDLRIFRI FEGTNDILRL FVALQGCMDK
GKELSGLGSA LKNPFGNAGL LLGEAGKQLR RRAGLGSGLS LSGLVHPELS RSGELAVRAL
EQFATVVEAK LIKHKKGIVN EQFLLQRLAD GAIDLYAMVV VLSRASRSLS EGHPTAQHEK
MLCDTWCIEA AARIREGMAA LQSDPWQQEL YRNFKSISKA LVERGGVVTS NPLGF*
speed 0.89 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