Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 0.999999999999739 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM900014)
  • known disease mutation: rs469 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:104184181G>CN/A show variant in all transcripts   IGV
HGNC symbol ALDOB
Ensembl transcript ID ENST00000374853
Genbank transcript ID N/A
UniProt peptide P05062
alteration type single base exchange
alteration region intron
DNA changes g.13925C>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs78340951
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC01414

known disease mutation: rs469 (pathogenic for Hereditary fructosuria|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM900014)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900014)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900014)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
FOXA1, Transcription Factor, FOXA1 Transcription Factor Binding
FOXA2, Transcription Factor, FOXA2 Transcription Factor Binding
HNF4A, Transcription Factor, HNF4A Transcription Factor Binding
Non-Gene Associated, Regulatory Feature, Non-Gene associated regulatory feature
RXRA, Transcription Factor, RXRA Transcription Factor Binding
SP1, Transcription Factor, SP1 Transcription Factor Binding
p300, Transcription Factor, p300 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9840.183
0.620.485
(flanking)4.9241
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased13915wt: 0.73 / mu: 0.81wt: CTCCTCTCTCATATTTGTCTTCTAGGCTAACTGCCAGGCGG
mu: CTCCTCTCTCATATTTGTCTTCTAGGCTAAGTGCCAGGCGG		 tctt|CTAG
Acc marginally increased13917wt: 0.9767 / mu: 0.9821 (marginal change - not scored)wt: CCTCTCTCATATTTGTCTTCTAGGCTAACTGCCAGGCGGCC
mu: CCTCTCTCATATTTGTCTTCTAGGCTAAGTGCCAGGCGGCC		 ttct|AGGC
Acc marginally increased13918wt: 0.9803 / mu: 0.9828 (marginal change - not scored)wt: CTCTCTCATATTTGTCTTCTAGGCTAACTGCCAGGCGGCCA
mu: CTCTCTCATATTTGTCTTCTAGGCTAAGTGCCAGGCGGCCA		 tcta|GGCT
Acc increased13924wt: 0.83 / mu: 0.96wt: CATATTTGTCTTCTAGGCTAACTGCCAGGCGGCCAAAGGAC
mu: CATATTTGTCTTCTAGGCTAAGTGCCAGGCGGCCAAAGGAC		 ctaa|CTGC
Donor marginally increased13926wt: 0.8915 / mu: 0.9018 (marginal change - not scored)wt: CTAACTGCCAGGCGG
mu: CTAAGTGCCAGGCGG		 AACT|gcca
Donor marginally increased13919wt: 0.9613 / mu: 0.9973 (marginal change - not scored)wt: TTCTAGGCTAACTGC
mu: TTCTAGGCTAAGTGC		 CTAG|gcta
distance from splice site 82
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
199219HELIXmight get lost (downstream of altered splice site)
224226HELIXmight get lost (downstream of altered splice site)
230230ACT_SITESchiff-base intermediate with dihydroxyacetone-P.might get lost (downstream of altered splice site)
246260HELIXmight get lost (downstream of altered splice site)
250250CONFLICTA -> D (in Ref. 9; CAA25072).might get lost (downstream of altered splice site)
267271STRANDmight get lost (downstream of altered splice site)
277289HELIXmight get lost (downstream of altered splice site)
278278CONFLICTE -> D (in Ref. 4; BAA00125).might get lost (downstream of altered splice site)
290292STRANDmight get lost (downstream of altered splice site)
296303STRANDmight get lost (downstream of altered splice site)
304306HELIXmight get lost (downstream of altered splice site)
308314HELIXmight get lost (downstream of altered splice site)
309309CONFLICTS -> V (in Ref. 3; no nucleotide entry).might get lost (downstream of altered splice site)
318320HELIXmight get lost (downstream of altered splice site)
321338HELIXmight get lost (downstream of altered splice site)
339341TURNmight get lost (downstream of altered splice site)
348348CONFLICTS -> C (in Ref. 4; BAA00125).might get lost (downstream of altered splice site)
351354HELIXmight get lost (downstream of altered splice site)
364364SITENecessary for preference for fructose 1,6-bisphosphate over fructose 1- phosphate.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 77 / 77
chromosome 9
strand -1
last intron/exon boundary 718
theoretical NMD boundary in CDS 591
length of CDS 672
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)		 13925
chromosomal position
(for ins/del: last normal base / first normal base)		 104184181
original gDNA sequence snippet ATATTTGTCTTCTAGGCTAACTGCCAGGCGGCCAAAGGACA
altered gDNA sequence snippet ATATTTGTCTTCTAGGCTAAGTGCCAGGCGGCCAAAGGACA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MAHRFPALTQ EQKKDSQGKL FRNILKEKGI VVGIKLDQGG APLAGTNKET TIQGLDGLSE
RCAQYKKDGV DFGKWRAVLR IADQCPSSLA IQENANALAR YASICQQNGL VPIVEPEVIP
DGDHDLEHCQ YVTEKVLAAV YKALNDHHVY LEGTLLKPNM VTAGHACTKK YTPEQVAMAT
VTALHRTVPA AVPGICFLSG GMSEEDATLN LNAIPTRVQC PPA*
mutated AA sequence N/A
speed 0.71 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