Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 2.61789142422279e-10 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:44038574A>GN/A show variant in all transcripts   IGV
HGNC symbol DBNDD2
Ensembl transcript ID ENST00000372717
Genbank transcript ID NM_001048224
UniProt peptide N/A
alteration type single base exchange
alteration region 3'UTR
DNA changes cDNA.531A>G
g.3878A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs1127497
databasehomozygous (G/G)heterozygousallele carriers
1000G15097942303
ExAC648531699654
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1850.973
0.470.967
(flanking)0.9760.964
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
splice site change occurs after stopcodon (at aa 125)
effectgDNA positionscoredetection sequence  exon-intron border
Acceptor lost3875sequence motif lost- wt: gcag|GGAT
 mu: gcag.GGGT
Acc marginally increased3868wt: 0.2593 / mu: 0.3432 (marginal change - not scored)wt: GGCCTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCA
mu: GGCCTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCA		 tctc|TGGG
Acc marginally decreased3875wt: 0.9190 / mu: 0.9181 (marginal change - not scored)wt: CCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATTTGGAG
mu: CCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATTTGGAG		 gcag|GGAT
Acc marginally increased3871wt: 0.9964 / mu: 0.9969 (marginal change - not scored)wt: CTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATTT
mu: CTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATTT		 ctgg|GCAG
Acc marginally increased3870wt: 0.9835 / mu: 0.9879 (marginal change - not scored)wt: CCTGACCAGCTTTTCTCTCTGGGCAGGGATGGACAACCATT
mu: CCTGACCAGCTTTTCTCTCTGGGCAGGGGTGGACAACCATT		 tctg|GGCA
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 signal is predicted to be ok
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 154 / 154
chromosome 20
strand 1
last intron/exon boundary 529
theoretical NMD boundary in CDS 325
length of CDS 339
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 531
gDNA position
(for ins/del: last normal base / first normal base)		 3878
chromosomal position
(for ins/del: last normal base / first normal base)		 44038574
original gDNA sequence snippet GCTTTTCTCTCTGGGCAGGGATGGACAACCATTTGGAGGAG
altered gDNA sequence snippet GCTTTTCTCTCTGGGCAGGGGTGGACAACCATTTGGAGGAG
original cDNA sequence snippet GGCTGGGGAAGTACACAAGGATGGACAACCATTTGGAGGAG
altered cDNA sequence snippet GGCTGGGGAAGTACACAAGGGTGGACAACCATTTGGAGGAG
wildtype AA sequence MDPNPRAALE RQQLRLRERQ KFFEDILQPE TEFVFPLSHL HLESQRPPIG SISSMEVNVD
TLEQVELIDL GDPDAADVFL PCEDPPPTPQ SSGMPLCFGD FSASQPEPDV RL*
mutated AA sequence N/A
speed 0.80 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