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 ENST00000538781
Genbank transcript ID N/A
UniProt peptide Q15067
alteration type single base exchange
alteration region CDS
DNA changes c.722A>G
cDNA.1142A>G
g.25966A>G
AA changes Q241R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 241
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      241TIAIRYSAVRHQSEIKPGEPEPQI
mutated  all conserved    241RSEIKPGEPEPQ
Ptroglodytes  all identical  ENSPTRG00000009665  309TIAIRYSAVRHQSEIKPGEPEPQ
Mmulatta  all identical  ENSMMUG00000014172  309TIAIRYSAVRHQSEIKPGEPEPQ
Fcatus  all identical  ENSFCAG00000005765  310TIAIRYSAVRHQSELKPGEPEPQ
Mmusculus  all identical  ENSMUSG00000020777  309TIAIRYSAVRRQSEIKRSEPEPQ
Ggallus  all identical  ENSGALG00000002159  310TIAIRYSAVRHQSELKPGAPEPQ
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000014727  309TIAIRYSAVRHQSELRPGEPEPQ
Dmelanogaster  all identical  FBgn0027572  322TIATRYSAVRRQSPIDPNQPEPQ
Celegans  all identical  F59F4.1  319TIATRYAAVRRQGEITPGKGEVQ
Xtropicalis  all identical  ENSXETG00000012601  322TIAIRYSAVRHQSEIRAGEPEPQ
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1779 / 1779
position (AA) of stopcodon in wt / mu AA sequence 593 / 593
position of stopcodon in wt / mu cDNA 2199 / 2199
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 421 / 421
chromosome 17
strand -1
last intron/exon boundary 2152
theoretical NMD boundary in CDS 1681
length of CDS 1779
coding sequence (CDS) position 722
cDNA position
(for ins/del: last normal base / first normal base)		 1142
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 MAAFIQRTPD NWHLRPDGNG PRFVHRGRPE PLDLHLGMFL PTLLHQATAE QQERFFMPAW
NLEIIGTYAQ TEMGHGTHLR GLETTATYDP ETQEFILNSP TVTSIKWWPG GLGKTSNHAI
VLAQLITKGK CYGLHAFIVP IREIGTHKPL PGITVGDIGP KFGYDEIDNG YLKMDNHRIP
RENMLMKYAQ VKPDGTYVKP LSNKLTYGTM VFVRSFLVGE AARALSKACT IAIRYSAVRH
QSEIKPGEPE PQILDFQTQQ YKLFPLLATA YAFQFVGAYM KETYHRINEG IGQGDLSELP
ELHALTAGLK AFTSWTANTG IEACRMACGG HGYSHCSGLP NIYVNFTPSC TFEGENTVMM
LQTARFLMKS YDQVHSGKLV CGMVSYLNDL PSQRIQPQQV AVWPTMVDIN SPESLTEAYK
LRAARLVEIA AKNLQKEVIH RKSKEVAWNL TSVDLVRASE AHCHYVVVKL FSEKLLKIQD
KAIQAVLRSL CLLYSLYGIS QNAGDFLQGS IMTEPQITQV NQRVKELLTL IRSDAVALVD
AFDFQDVTLG SVLGRYDGNV YENLFEWAKN SPLNKAEVHE SYKHLKSLQS KL*
mutated AA sequence MAAFIQRTPD NWHLRPDGNG PRFVHRGRPE PLDLHLGMFL PTLLHQATAE QQERFFMPAW
NLEIIGTYAQ TEMGHGTHLR GLETTATYDP ETQEFILNSP TVTSIKWWPG GLGKTSNHAI
VLAQLITKGK CYGLHAFIVP IREIGTHKPL PGITVGDIGP KFGYDEIDNG YLKMDNHRIP
RENMLMKYAQ VKPDGTYVKP LSNKLTYGTM VFVRSFLVGE AARALSKACT IAIRYSAVRH
RSEIKPGEPE PQILDFQTQQ YKLFPLLATA YAFQFVGAYM KETYHRINEG IGQGDLSELP
ELHALTAGLK AFTSWTANTG IEACRMACGG HGYSHCSGLP NIYVNFTPSC TFEGENTVMM
LQTARFLMKS YDQVHSGKLV CGMVSYLNDL PSQRIQPQQV AVWPTMVDIN SPESLTEAYK
LRAARLVEIA AKNLQKEVIH RKSKEVAWNL TSVDLVRASE AHCHYVVVKL FSEKLLKIQD
KAIQAVLRSL CLLYSLYGIS QNAGDFLQGS IMTEPQITQV NQRVKELLTL IRSDAVALVD
AFDFQDVTLG SVLGRYDGNV YENLFEWAKN SPLNKAEVHE SYKHLKSLQS KL*
speed 1.40 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