Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM012896)
  • known disease mutation: rs4426 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:32984782G>AN/A show variant in all transcripts   IGV
HGNC symbol APTX
Ensembl transcript ID ENST00000436040
Genbank transcript ID N/A
UniProt peptide Q7Z2E3
alteration type single base exchange
alteration region intron
DNA changes g.40385C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121908131
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC033

known disease mutation: rs4426 (pathogenic for Ataxia-oculomotor apraxia type 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012896)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012896)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012896)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.4810.01
4.0660.998
(flanking)4.0661
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased40387wt: 0.21 / mu: 0.28wt: ACCATTGGCTGGTCTTACCGTGGACCTCCATTTCCAGTCTG
mu: ACCATTGGCTGGTCTTACTGTGGACCTCCATTTCCAGTCTG		 ccgt|GGAC
distance from splice site 1187
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
182287DOMAINHIT.might get lost (downstream of altered splice site)
272276MOTIFHistidine triad motif.might get lost (downstream of altered splice site)
274274ACT_SITETele-AMP-histidine intermediate (Probable).might get lost (downstream of altered splice site)
274274MUTAGENH->A: Abolishes enzyme activity.might get lost (downstream of altered splice site)
331353ZN_FINGC2H2-type.might get lost (downstream of altered splice site)
333333MUTAGENC->A: Abolishes DNA-binding and enzyme activity; when associated with A-336.might get lost (downstream of altered splice site)
336336MUTAGENC->A: Abolishes DNA-binding and enzyme activity; when associated with A-333.might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 198 / 198
chromosome 9
strand -1
last intron/exon boundary 845
theoretical NMD boundary in CDS 597
length of CDS 579
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 40385
chromosomal position
(for ins/del: last normal base / first normal base)		 32984782
original gDNA sequence snippet TTACCATTGGCTGGTCTTACCGTGGACCTCCATTTCCAGTC
altered gDNA sequence snippet TTACCATTGGCTGGTCTTACTGTGGACCTCCATTTCCAGTC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MMRVCWLVRQ DSRHQRIRLP HLEAVVIGRG PETKITDKKC SRQQVQLKAE CNKGYVKVKQ
VGVNPTSIDS VVIGKDQEVK LQPGQVLHMV NELYPYIVEF EEEAKNPGLE THRKRKRSGN
SDSIERDAAQ EAEAGTGLEP GSNSGQCSVP LKKGKDAPIK KESLGHWSQG LKISMQDPKM
QPCTSSCDQP GF*
mutated AA sequence N/A
speed 0.67 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