Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999997194315408 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CD168148)
  • known disease mutation at this position (HGMD CM051449)
  • known disease mutation: rs8159 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:74185328G>TN/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 CDS
DNA changes c.499G>T
cDNA.584G>T
g.31376G>T
AA changes D167Y Score: 160 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 167
frameshift no
known variant Reference ID: rs104893633
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8159 (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 CD168148)

known disease mutation at this position, please check HGMD for details (HGMD ID CD168148)
known disease mutation at this position, please check HGMD for details (HGMD ID CM051449)

known disease mutation at this position, please check HGMD for details (HGMD ID CD168148)
known disease mutation at this position, please check HGMD for details (HGMD ID CM051449)
known disease mutation at this position, please check HGMD for details (HGMD ID CM051449)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5320.884
4.3850.996
(flanking)2.0670.995
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased31384wt: 0.50 / mu: 0.89wt: GATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGA
mu: GATGTCAATGATTATTTTTCTGAGGAAGTAACCAAACAAGA		 ttct|GAGG
Acc increased31386wt: 0.58 / mu: 0.90wt: TGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAG
mu: TGTCAATGATTATTTTTCTGAGGAAGTAACCAAACAAGAAG		 ctga|GGAA
Acc gained313850.39mu: ATGTCAATGATTATTTTTCTGAGGAAGTAACCAAACAAGAA tctg|AGGA
distance from splice site 45
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      167NIPVLVLDVNDDFSEEVTKQEDLM
mutated  not conserved    167NIPVLVLDVNDYFSEEVTKQEDL
Ptroglodytes  all identical  ENSPTRG00000012074  255NIPVLVLDVNDDFSEEVTKQEDL
Mmulatta  all identical  ENSMMUG00000017830  255NIPVLVLDVNDDFSEEVTKQEDL
Fcatus  all identical  ENSFCAG00000012099  255NIPVLVLDVNDDFSEEETKQEEL
Mmusculus  all identical  ENSMUSG00000014554  255HVPVLVLDVTEDFSENAARQEEL
Ggallus  all identical  ENSGALG00000022134  111HAPVLVLDVEGDFEHDAAAQDAL
Trubripes  not conserved  ENSTRUG00000012499  244NIPVLELDASAAFQSDPVVQEQF
Drerio  not conserved  ENSDARG00000075395  247KVPVLVLDAEVAFEQNPEVQDCL
Dmelanogaster  no alignment  FBgn0022338  n/a
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000019642  239NIPVLLLDVEEDFENNSAAGDDL
protein features
start (aa)end (aa)featuredetails 
163179HELIXlost
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 normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 570 / 570
position (AA) of stopcodon in wt / mu AA sequence 190 / 190
position of stopcodon in wt / mu cDNA 655 / 655
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 499
cDNA position
(for ins/del: last normal base / first normal base)		 584
gDNA position
(for ins/del: last normal base / first normal base)		 31376
chromosomal position
(for ins/del: last normal base / first normal base)		 74185328
original gDNA sequence snippet TGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACC
altered gDNA sequence snippet TGGTGTTGGATGTCAATGATTATTTTTCTGAGGAAGTAACC
original cDNA sequence snippet TGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACC
altered cDNA sequence snippet TGGTGTTGGATGTCAATGATTATTTTTCTGAGGAAGTAACC
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 MAAGRLFLSR LRAPFSSMAK SPLEGVSSSR GLHAGRGPRR LSIEGNIAVG KSTFVKLLTK
TYPEWHVATE PVATWQNIQA AGTQKACTAQ SLGNLLDMMY REPARWSYTF QTFSFLSRLK
VQLEPFPEKL LQARKPVQIF ERSVYSDRLH FEALMNIPVL VLDVNDYFSE EVTKQEDLMR
EVNTFVKNL*
speed 0.12 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