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 CM024769)
  • known disease mutation: rs8158 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:74184339G>AN/A show variant in all transcripts   IGV
HGNC symbol DGUOK
Ensembl transcript ID ENST00000348222
Genbank transcript ID NM_080918
UniProt peptide Q16854
alteration type single base exchange
alteration region intron
DNA changes g.30387G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs104893632
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs8158 (pathogenic for Mitochondrial DNA-depletion syndrome 3, hepatocerebral) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM024769)

known disease mutation at this position, please check HGMD for details (HGMD ID CM024769)
known disease mutation at this position, please check HGMD for details (HGMD ID CM024769)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1230.99
4.5081
(flanking)3.7341
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased30389wt: 0.76 / mu: 0.86wt: CACGAAGCCTGGCTT
mu: CACAAAGCCTGGCTT		 CGAA|gcct
Donor marginally increased30384wt: 0.9314 / mu: 0.9547 (marginal change - not scored)wt: GCCAACACGAAGCCT
mu: GCCAACACAAAGCCT		 CAAC|acga
Donor gained303830.92mu: GGCCAACACAAAGCC CCAA|caca
distance from splice site 934
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
144149HELIXmight get lost (downstream of altered splice site)
151157HELIXmight get lost (downstream of altered splice site)
159159CONFLICTG -> D (in Ref. 5; CAA66054).might get lost (downstream of altered splice site)
163179HELIXmight get lost (downstream of altered splice site)
181184HELIXmight get lost (downstream of altered splice site)
188193STRANDmight get lost (downstream of altered splice site)
196205HELIXmight get lost (downstream of altered splice site)
206208NP_BINDATP.might get lost (downstream of altered splice site)
209213TURNmight get lost (downstream of altered splice site)
211211BINDINGSubstrate.might get lost (downstream of altered splice site)
212212CONFLICTK -> E (in Ref. 5; CAA66054).might get lost (downstream of altered splice site)
216230HELIXmight get lost (downstream of altered splice site)
242244HELIXmight get lost (downstream of altered splice site)
247251STRANDmight get lost (downstream of altered splice site)
256258TURNmight get lost (downstream of altered splice site)
260275HELIXmight get lost (downstream of altered splice site)
275275MOD_RESN6-acetyllysine.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 86 / 86
chromosome 2
strand 1
last intron/exon boundary 629
theoretical NMD boundary in CDS 493
length of CDS 570
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)		 30387
chromosomal position
(for ins/del: last normal base / first normal base)		 74184339
original gDNA sequence snippet AGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAG
altered gDNA sequence snippet AGCAGCTGCATGGCCAACACAAAGCCTGGCTTATTCACAAG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MAAGRLFLSR LRAPFSSMAK SPLEGVSSSR GLHAGRGPRR LSIEGNIAVG KSTFVKLLTK
TYPEWHVATE PVATWQNIQA AGTQKACTAQ SLGNLLDMMY REPARWSYTF QTFSFLSRLK
VQLEPFPEKL LQARKPVQIF ERSVYSDRLH FEALMNIPVL VLDVNDDFSE EVTKQEDLMR
EVNTFVKNL*
mutated AA sequence N/A
speed 1.02 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