Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999859676 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM010153)
  • known disease mutation at this position (HGMD CM1412405)
  • known disease mutation: rs1633 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:7127026G>AN/A show variant in all transcripts   IGV
HGNC symbol ACADVL
Ensembl transcript ID ENST00000543245
Genbank transcript ID NM_001270447
UniProt peptide P49748
alteration type single base exchange
alteration region CDS
DNA changes c.1315G>A
cDNA.1336G>A
g.6583G>A
AA changes A439T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 439
frameshift no
known variant Reference ID: rs118204018
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs1633 (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 CM010153)

known disease mutation at this position, please check HGMD for details (HGMD ID CM010153)
known disease mutation at this position, please check HGMD for details (HGMD ID CM1412405)

known disease mutation at this position, please check HGMD for details (HGMD ID CM010153)
known disease mutation at this position, please check HGMD for details (HGMD ID CM1412405)
known disease mutation at this position, please check HGMD for details (HGMD ID CM010153)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.4440.019
5.2821
(flanking)5.2821
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained65790.55mu: ATAGAGGCCACCATC AGAG|gcca
distance from splice site 24
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      439DQGATDFQIEAAISKIFGSEAAWK
mutated  not conserved    439DQGATDFQIEATISKIFGSEAAW
Ptroglodytes  all identical  ENSPTRG00000008664  439DQGATDFQIEAAISKIFGSEAAW
Mmulatta  not conserved  ENSMMUG00000010538  436ALGLSSQLGQTTTPSS
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000018574  417DQGFKDFQIEAAISKIFCSEAAW
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000013710  418DSGATEFQIEAAISKIFASEAAW
Drerio  all identical  ENSDARG00000016687  421DSGATEFQIEAAISKIFASEAAW
Dmelanogaster  all identical  FBgn0034432  389DAGSKDYHLEAAISKIY
Celegans  all identical  E04F6.5  384DRGIKEYQLEAAIGKVLA
Xtropicalis  all identical  ENSXETG00000031271  213DSGHKDFQIEAAISKIFGSEAAW
protein features
start (aa)end (aa)featuredetails 
41482REGIONCatalytic.lost
412437HELIXmight get lost (downstream of altered splice site)
435439NP_BINDFAD (By similarity).lost
439442HELIXlost
448455HELIXmight get lost (downstream of altered splice site)
456459HELIXmight get lost (downstream of altered splice site)
461463STRANDmight get lost (downstream of altered splice site)
462462ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
462463REGIONSubstrate binding.might get lost (downstream of altered splice site)
463463BINDINGSubstrate; via amide nitrogen (By similarity).might get lost (downstream of altered splice site)
464466NP_BINDFAD.might get lost (downstream of altered splice site)
465485HELIXmight get lost (downstream of altered splice site)
483516REGIONMembrane-anchoring (Probable).might get lost (downstream of altered splice site)
486488HELIXmight get lost (downstream of altered splice site)
522524TURNmight get lost (downstream of altered splice site)
527529HELIXmight get lost (downstream of altered splice site)
530554HELIXmight get lost (downstream of altered splice site)
555560HELIXmight get lost (downstream of altered splice site)
562591HELIXmight get lost (downstream of altered splice site)
596622HELIXmight get lost (downstream of altered splice site)
627644HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2037 / 2037
position (AA) of stopcodon in wt / mu AA sequence 679 / 679
position of stopcodon in wt / mu cDNA 2058 / 2058
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 22 / 22
chromosome 17
strand 1
last intron/exon boundary 1918
theoretical NMD boundary in CDS 1846
length of CDS 2037
coding sequence (CDS) position 1315
cDNA position
(for ins/del: last normal base / first normal base)		 1336
gDNA position
(for ins/del: last normal base / first normal base)		 6583
chromosomal position
(for ins/del: last normal base / first normal base)		 7127026
original gDNA sequence snippet CGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGC
altered gDNA sequence snippet CGGACTTCCAGATAGAGGCCACCATCAGCAAAATCTTTGGC
original cDNA sequence snippet CGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGC
altered cDNA sequence snippet CGGACTTCCAGATAGAGGCCACCATCAGCAAAATCTTTGGC
wildtype AA sequence MLGGLAAAAG TRIMGKEIEA EAQRPLRQTW RPGQPPAMTA KTMSSRLTAL LGQPRPGPAR
RPYAGGAAQL ALDKSDSHPS DALTRKKPAK AESKSFAVGM FKGQLTTDQV FPYPSVLNEE
QTQFLKELVE PVSRFFEEVN DPAKNDALEM VEETTWQGLK ELGAFGLQVP SELGGVGLCN
TQYARLVEIV GMHDLGVGIT LGAHQSIGFK GILLFGTKAQ KEKYLPKLAS GETVAAFCLT
EPSSGSDAAS IRTSAVPSPC GKYYTLNGSK LWISNGGLAD IFTVFAKTPV TDPATGAVKE
KITAFVVERG FGGITHGPPE KKMGIKASNT AEVFFDGVRV PSENVLGEVG SGFKVAMHIL
NNGRFGMAAA LAGTMRGIIA KAVDHATNRT QFGEKIHNFG LIQEKLARMV MLQYVTESMA
YMVSANMDQG ATDFQIEAAI SKIFGSEAAW KVTDECIQIM GGMGFMKEPG VERVLRDLRI
FRIFEGTNDI LRLFVALQGC MDKGKELSGL GSALKNPFGN AGLLLGEAGK QLRRRAGLGS
GLSLSGLVHP ELSRSGELAV RALEQFATVV EAKLIKHKKG IVNEQFLLQR LADGAIDLYA
MVVVLSRASR SLSEGHPTAQ HEKMLCDTWC IEAAARIREG MAALQSDPWQ QELYRNFKSI
SKALVERGGV VTSNPLGF*
mutated AA sequence MLGGLAAAAG TRIMGKEIEA EAQRPLRQTW RPGQPPAMTA KTMSSRLTAL LGQPRPGPAR
RPYAGGAAQL ALDKSDSHPS DALTRKKPAK AESKSFAVGM FKGQLTTDQV FPYPSVLNEE
QTQFLKELVE PVSRFFEEVN DPAKNDALEM VEETTWQGLK ELGAFGLQVP SELGGVGLCN
TQYARLVEIV GMHDLGVGIT LGAHQSIGFK GILLFGTKAQ KEKYLPKLAS GETVAAFCLT
EPSSGSDAAS IRTSAVPSPC GKYYTLNGSK LWISNGGLAD IFTVFAKTPV TDPATGAVKE
KITAFVVERG FGGITHGPPE KKMGIKASNT AEVFFDGVRV PSENVLGEVG SGFKVAMHIL
NNGRFGMAAA LAGTMRGIIA KAVDHATNRT QFGEKIHNFG LIQEKLARMV MLQYVTESMA
YMVSANMDQG ATDFQIEATI SKIFGSEAAW KVTDECIQIM GGMGFMKEPG VERVLRDLRI
FRIFEGTNDI LRLFVALQGC MDKGKELSGL GSALKNPFGN AGLLLGEAGK QLRRRAGLGS
GLSLSGLVHP ELSRSGELAV RALEQFATVV EAKLIKHKKG IVNEQFLLQR LADGAIDLYA
MVVVLSRASR SLSEGHPTAQ HEKMLCDTWC IEAAARIREG MAALQSDPWQ QELYRNFKSI
SKALVERGGV VTSNPLGF*
speed 1.20 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