Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999999901757 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM073994)
  • known disease mutation: rs1501 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:73949550T>CN/A show variant in all transcripts   IGV
HGNC symbol ACOX1
Ensembl transcript ID ENST00000539791
Genbank transcript ID N/A
UniProt peptide Q15067
alteration type single base exchange
alteration region CDS
DNA changes c.926A>G
cDNA.981A>G
g.25966A>G
AA changes Q309R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 309
frameshift no
known variant Reference ID: rs118204092
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs1501 (pathogenic for Peroxisomal acyl-CoA oxidase deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM073994)

known disease mutation at this position, please check HGMD for details (HGMD ID CM073994)
known disease mutation at this position, please check HGMD for details (HGMD ID CM073994)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.3781
4.9691
(flanking)61
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 19
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      309TIAIRYSAVRHQSEIKPGEPEPQI
mutated  all conserved    309IRYSAVRHRSEIKPGEPEPQ
Ptroglodytes  all identical  ENSPTRG00000009665  309IRYSAVRHQSEIKPGEPEPQ
Mmulatta  all identical  ENSMMUG00000014172  309IRYSAVRHQSEIKPGEPEPQ
Fcatus  all identical  ENSFCAG00000005765  310AIRYSAVRHQSELKPGEPEPQ
Mmusculus  all identical  ENSMUSG00000020777  309IRYSAVRRQSEIKRSEPEPQ
Ggallus  all identical  ENSGALG00000002159  310IRYSAVRHQSELKPGAPEPQ
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000014727  309IRYSAVRHQSELRPGEPEPQ
Dmelanogaster  all identical  FBgn0027572  322TIATRYSAVRRQSPIDPNQPEPQ
Celegans  all identical  F59F4.1  319ATRYAAVRRQGEITPGKGEVQ
Xtropicalis  all identical  ENSXETG00000012601  322IRYSAVRHQSEIRAGEPEPQ
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1983 / 1983
position (AA) of stopcodon in wt / mu AA sequence 661 / 661
position of stopcodon in wt / mu cDNA 2038 / 2038
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 56 / 56
chromosome 17
strand -1
last intron/exon boundary 2511
theoretical NMD boundary in CDS 2405
length of CDS 1983
coding sequence (CDS) position 926
cDNA position
(for ins/del: last normal base / first normal base)		 981
gDNA position
(for ins/del: last normal base / first normal base)		 25966
chromosomal position
(for ins/del: last normal base / first normal base)		 73949550
original gDNA sequence snippet ATACAGCGCTGTGAGGCACCAGTCTGAAATCAAGCCAGGGT
altered gDNA sequence snippet ATACAGCGCTGTGAGGCACCGGTCTGAAATCAAGCCAGGGT
original cDNA sequence snippet ATACAGCGCTGTGAGGCACCAGTCTGAAATCAAGCCAGGTG
altered cDNA sequence snippet ATACAGCGCTGTGAGGCACCGGTCTGAAATCAAGCCAGGTG
wildtype AA sequence MNPDLRRERD SASFNPELLT HILDGSPEKT RRRREIENMI LNDPDFQHED LNFLTRSQRY
EVAVRKSAIM VKKMREFGIA DPDEIMWFKN FVHRGRPEPL DLHLGMFLPT LLHQATAEQQ
ERFFMPAWNL EIIGTYAQTE MGHGTHLRGL ETTATYDPET QEFILNSPTV TSIKWWPGGL
GKTSNHAIVL AQLITKGKCY GLHAFIVPIR EIGTHKPLPG ITVGDIGPKF GYDEIDNGYL
KMDNHRIPRE NMLMKYAQVK PDGTYVKPLS NKLTYGTMVF VRSFLVGEAA RALSKACTIA
IRYSAVRHQS EIKPGEPEPQ ILDFQTQQYK LFPLLATAYA FQFVGAYMKE TYHRINEGIG
QGDLSELPEL HALTAGLKAF TSWTANTGIE ACRMACGGHG YSHCSGLPNI YVNFTPSCTF
EGENTVMMLQ TARFLMKSYD QVHSGKLVCG MVSYLNDLPS QRIQPQQVAV WPTMVDINSP
ESLTEAYKLR AARLVEIAAK NLQKEVIHRK SKEVAWNLTS VDLVRASEAH CHYVVVKLFS
EKLLKIQDKA IQAVLRSLCL LYSLYGISQN AGDFLQGSIM TEPQITQVNQ RVKELLTLIR
SDAVALVDAF DFQDVTLGSV LGRYDGNVYE NLFEWAKNSP LNKAEVHESY KHLKSLQSKL
*
mutated AA sequence MNPDLRRERD SASFNPELLT HILDGSPEKT RRRREIENMI LNDPDFQHED LNFLTRSQRY
EVAVRKSAIM VKKMREFGIA DPDEIMWFKN FVHRGRPEPL DLHLGMFLPT LLHQATAEQQ
ERFFMPAWNL EIIGTYAQTE MGHGTHLRGL ETTATYDPET QEFILNSPTV TSIKWWPGGL
GKTSNHAIVL AQLITKGKCY GLHAFIVPIR EIGTHKPLPG ITVGDIGPKF GYDEIDNGYL
KMDNHRIPRE NMLMKYAQVK PDGTYVKPLS NKLTYGTMVF VRSFLVGEAA RALSKACTIA
IRYSAVRHRS EIKPGEPEPQ ILDFQTQQYK LFPLLATAYA FQFVGAYMKE TYHRINEGIG
QGDLSELPEL HALTAGLKAF TSWTANTGIE ACRMACGGHG YSHCSGLPNI YVNFTPSCTF
EGENTVMMLQ TARFLMKSYD QVHSGKLVCG MVSYLNDLPS QRIQPQQVAV WPTMVDINSP
ESLTEAYKLR AARLVEIAAK NLQKEVIHRK SKEVAWNLTS VDLVRASEAH CHYVVVKLFS
EKLLKIQDKA IQAVLRSLCL LYSLYGISQN AGDFLQGSIM TEPQITQVNQ RVKELLTLIR
SDAVALVDAF DFQDVTLGSV LGRYDGNVYE NLFEWAKNSP LNKAEVHESY KHLKSLQSKL
*
speed 1.01 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