Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999936066885 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • 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 ENST00000372710
Genbank transcript ID NM_001048225
UniProt peptide Q9BQY9
alteration type single base exchange
alteration region CDS
DNA changes c.586A>G
cDNA.741A>G
g.3878A>G
AA changes M196V Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 196
frameshift no
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
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
speciesmatchgeneaaalignment
Human      196EDPPPTPQSSGMDNHLEELSLPVP
mutated  all conserved    196EDPPPTPQSSGVDNHLEELSLPV
Ptroglodytes  all conserved  ENSPTRG00000013544  94EDPPPTPQSSGVDNHLEELSLPV
Mmulatta  all conserved  ENSMMUG00000003409  193EDPPPTPQSSGVDNHLEELSLPV
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000017734  94EESSPAPQMSGVDDHPEELSLLV
Ggallus  not conserved  ENSGALG00000003921  99EEGSVSGPLTGADASQCQEEITLQV
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000074904  112SGEEGSLTSPLPDFGHADLEENGLQRSDLPL
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
204204CONFLICTP -> A (in Ref. 1; AAF67656).might get lost (downstream of altered splice site)
214222COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
215215MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
244247COMPBIASPoly-Glu.might get lost (downstream of altered splice site)
249249CONFLICTG -> D (in Ref. 2; BAA91235).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 792 / 792
position (AA) of stopcodon in wt / mu AA sequence 264 / 264
position of stopcodon in wt / mu cDNA 947 / 947
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 156 / 156
chromosome 20
strand 1
last intron/exon boundary 739
theoretical NMD boundary in CDS 533
length of CDS 792
coding sequence (CDS) position 586
cDNA position
(for ins/del: last normal base / first normal base)		 741
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 CAACCCCCCAGTCGTCTGGGATGGACAACCATTTGGAGGAG
altered cDNA sequence snippet CAACCCCCCAGTCGTCTGGGGTGGACAACCATTTGGAGGAG
wildtype AA sequence MESWALAVFP EYRVSLLWCL ELASPLWSLG QAPPLHETWF VGHTWFQGRG KRSPRAEVSR
PEPGAPLLGC WLQWGAPSPG PLCLLFRLCS CTCFAPLPAG ADMDPNPRAA LERQQLRLRE
RQKFFEDILQ PETEFVFPLS HLHLESQRPP IGSISSMEVN VDTLEQVELI DLGDPDAADV
FLPCEDPPPT PQSSGMDNHL EELSLPVPTS DRTTSRTSSS SSSDSSTNLH SPNPSDDGAD
TPLAQSDEEE ERGDGGAEPG ACS*
mutated AA sequence MESWALAVFP EYRVSLLWCL ELASPLWSLG QAPPLHETWF VGHTWFQGRG KRSPRAEVSR
PEPGAPLLGC WLQWGAPSPG PLCLLFRLCS CTCFAPLPAG ADMDPNPRAA LERQQLRLRE
RQKFFEDILQ PETEFVFPLS HLHLESQRPP IGSISSMEVN VDTLEQVELI DLGDPDAADV
FLPCEDPPPT PQSSGVDNHL EELSLPVPTS DRTTSRTSSS SSSDSSTNLH SPNPSDDGAD
TPLAQSDEEE ERGDGGAEPG ACS*
speed 1.19 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