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 CM002057)
  • known disease mutation: rs6617 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:74531952C>TN/A show variant in all transcripts   IGV
HGNC symbol BBOF1
Ensembl transcript ID ENST00000553773
Genbank transcript ID N/A
UniProt peptide Q8ND07
alteration type single base exchange
alteration region intron
DNA changes g.45897C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS
N/A
frameshift N/A
known variant Reference ID: rs72552258
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs6617 (pathogenic for Methylmalonate semialdehyde dehydrogenase deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM002057)

known disease mutation at this position, please check HGMD for details (HGMD ID CM002057)
known disease mutation at this position, please check HGMD for details (HGMD ID CM002057)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.2891
6.2891
(flanking)0.7131
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased45905wt: 0.47 / mu: 0.78wt: AGATGGCAGTTCCATTTCCATATGGGTTGTTATTTACAATC
mu: AGATGGCAGTTCTATTTCCATATGGGTTGTTATTTACAATC
 ccat|ATGG
Acc increased45907wt: 0.70 / mu: 0.81wt: ATGGCAGTTCCATTTCCATATGGGTTGTTATTTACAATCTG
mu: ATGGCAGTTCTATTTCCATATGGGTTGTTATTTACAATCTG
 atat|GGGT
distance from splice site 7991
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
N/A
protein features
start (aa)end (aa)featuredetails 
271361COILEDPotential.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 627 / 627
chromosome 14
strand 1
last intron/exon boundary 1640
theoretical NMD boundary in CDS 963
length of CDS 798
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)
45897
chromosomal position
(for ins/del: last normal base / first normal base)
74531952
original gDNA sequence snippet GGTGGTGAAGATGGCAGTTCCATTTCCATATGGGTTGTTAT
altered gDNA sequence snippet GGTGGTGAAGATGGCAGTTCTATTTCCATATGGGTTGTTAT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MQLVQQRSQI QTLQKKVVNL ETALSYMTKE FESEVLKLQQ HAMIENQAGQ VEIDKLQHLL
QMKDREMNRV KKLAKNILDE RTEVERFFLD ALHQVKQQIL ISRKHYKQIA QAAFNLKMRA
ACTGRTEYPK IRTFDGREHS TNSVNQDLLE AEKWTHIEGN VDIGDLTWEQ KEKVLRLLFA
KMNGCPSRKY NQSSRPPVPD YVVSDSGETK EFGDESKLQD KIFITQQIAI SDSSGEVVLP
TIPKEPQESD TSTQKPSDEN FSTSY*
mutated AA sequence N/A
speed 0.19 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