Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999864489154 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CD031829)
  • known disease mutation at this position (HGMD CM960484)
  • known disease mutation: rs8787 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:47256335A>GN/A show variant in all transcripts   IGV
HGNC symbol DDB2
Ensembl transcript ID ENST00000378603
Genbank transcript ID N/A
UniProt peptide Q92466
alteration type single base exchange
alteration region CDS
DNA changes c.538A>G
cDNA.733A>G
g.19843A>G
AA changes K180E Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 180
frameshift no
known variant Reference ID: rs121434639
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs8787 (pathogenic for Xeroderma pigmentosum, group E) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CD031829)

known disease mutation at this position, please check HGMD for details (HGMD ID CD031829)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960484)

known disease mutation at this position, please check HGMD for details (HGMD ID CD031829)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960484)
known disease mutation at this position, please check HGMD for details (HGMD ID CD031829)

known disease mutation at this position, please check HGMD for details (HGMD ID CD031829)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960484)
known disease mutation at this position, please check HGMD for details (HGMD ID CD031829)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960484)
regulatory features CBP, Transcription Factor, CBP Transcription Factor Binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)4.0261
5.0541
(flanking)3.5021
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained198420.88mu: AAAAAGGAAGTGACG AAAG|gaag
Donor gained198370.60mu: TGCACAAAAAGGAAG CACA|aaaa
distance from splice site 28
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      180KELWNLRMHKKKVTHVALNPCCDW
mutated  all conserved    180KELWNLRMHKKEVTHVALNPCCD
Ptroglodytes  all identical  ENSPTRG00000003558  244MHKKKVTHVALNPCCD
Mmulatta  all identical  ENSMMUG00000022964  244MHKKKVTHVALNPCCD
Fcatus  all identical  ENSFCAG00000002526  244MHKKKVTHVALNPCCD
Mmusculus  all identical  ENSMUSG00000002109  244HKKKVAHVALNPCCD
Ggallus  all identical  ENSGALG00000008218  264EEIWKLKLHKKKVTHVEFNSRCE
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000041140  253HEIFKEKLHKAKVTHAEFNPRCD
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000003980  253KEIWKLRLHKKKVTHVEFNPRCD
protein features
start (aa)end (aa)featuredetails 
154195REPEATWD 2.lost
177179STRANDmight get lost (downstream of altered splice site)
181185STRANDmight get lost (downstream of altered splice site)
186188TURNmight get lost (downstream of altered splice site)
190195STRANDmight get lost (downstream of altered splice site)
207210STRANDmight get lost (downstream of altered splice site)
211214TURNmight get lost (downstream of altered splice site)
215219STRANDmight get lost (downstream of altered splice site)
221232STRANDmight get lost (downstream of altered splice site)
240280REPEATWD 3.might get lost (downstream of altered splice site)
241243STRANDmight get lost (downstream of altered splice site)
245250STRANDmight get lost (downstream of altered splice site)
255262STRANDmight get lost (downstream of altered splice site)
256274MOTIFDWD box.might get lost (downstream of altered splice site)
258258MUTAGENL->A: Impairs interaction with DDB1.might get lost (downstream of altered splice site)
262262MUTAGENS->A: Impairs interaction with DDB1.might get lost (downstream of altered splice site)
264264MUTAGEND->A: Impairs interaction with DDB1.might get lost (downstream of altered splice site)
269269MUTAGENI->A: Impairs interaction with DDB1.might get lost (downstream of altered splice site)
269271STRANDmight get lost (downstream of altered splice site)
270270MUTAGENW->A: Impairs interaction with DDB1.might get lost (downstream of altered splice site)
272272MUTAGENL->A: Impairs interaction with DDB1.might get lost (downstream of altered splice site)
272274TURNmight get lost (downstream of altered splice site)
273273MUTAGENR->A: Impairs interaction with DDB1.might get lost (downstream of altered splice site)
277279STRANDmight get lost (downstream of altered splice site)
278278MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
282286STRANDmight get lost (downstream of altered splice site)
286325REPEATWD 4.might get lost (downstream of altered splice site)
291293STRANDmight get lost (downstream of altered splice site)
300310STRANDmight get lost (downstream of altered splice site)
312326STRANDmight get lost (downstream of altered splice site)
335337STRANDmight get lost (downstream of altered splice site)
346349STRANDmight get lost (downstream of altered splice site)
350350MUTAGENL->P: Impairs interaction with DDB1.might get lost (downstream of altered splice site)
351354STRANDmight get lost (downstream of altered splice site)
364366STRANDmight get lost (downstream of altered splice site)
372375STRANDmight get lost (downstream of altered splice site)
377379STRANDmight get lost (downstream of altered splice site)
382386STRANDmight get lost (downstream of altered splice site)
389391TURNmight get lost (downstream of altered splice site)
389426REPEATWD 5.might get lost (downstream of altered splice site)
397400STRANDmight get lost (downstream of altered splice site)
407410STRANDmight get lost (downstream of altered splice site)
412417STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1092 / 1092
position (AA) of stopcodon in wt / mu AA sequence 364 / 364
position of stopcodon in wt / mu cDNA 1287 / 1287
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 196 / 196
chromosome 11
strand 1
last intron/exon boundary 1238
theoretical NMD boundary in CDS 992
length of CDS 1092
coding sequence (CDS) position 538
cDNA position
(for ins/del: last normal base / first normal base)		 733
gDNA position
(for ins/del: last normal base / first normal base)		 19843
chromosomal position
(for ins/del: last normal base / first normal base)		 47256335
original gDNA sequence snippet ATCTCAGAATGCACAAAAAGAAAGTGACGCATGTGGCCCTG
altered gDNA sequence snippet ATCTCAGAATGCACAAAAAGGAAGTGACGCATGTGGCCCTG
original cDNA sequence snippet ATCTCAGAATGCACAAAAAGAAAGTGACGCATGTGGCCCTG
altered cDNA sequence snippet ATCTCAGAATGCACAAAAAGGAAGTGACGCATGTGGCCCTG
wildtype AA sequence MAPKKRPETQ KTSEIVLRPR NKRSRSPLEL EPEAKKLCAK GSGPSRRCDS DCLWVGLAGP
QILPPCRSIV RTLHQHKLGR ASWPSVQQIG AGGSITGLKF NPLNTNQFYA SSMEGTTRLQ
DFKGNILRVF ASSDTINIWF CSLDVSASSR MVVTGDNVGN VILLNMDGKE LWNLRMHKKK
VTHVALNPCC DWFLATASVD QTVKIWDLRQ VRGKASFLYS LPHRHPVNAA CFSPDGARLL
TTDQKSEIRV YSASQWDCPL GLIPHPHRHF QHLTPIKAAW HPRYNLIVVG RYPDPNFKSC
TPYELRTIDV FDGNSGKMMC QLYDPESSGI SSLNEFNPMG DTLASAMGYH ILIWSQEEAR
TRK*
mutated AA sequence MAPKKRPETQ KTSEIVLRPR NKRSRSPLEL EPEAKKLCAK GSGPSRRCDS DCLWVGLAGP
QILPPCRSIV RTLHQHKLGR ASWPSVQQIG AGGSITGLKF NPLNTNQFYA SSMEGTTRLQ
DFKGNILRVF ASSDTINIWF CSLDVSASSR MVVTGDNVGN VILLNMDGKE LWNLRMHKKE
VTHVALNPCC DWFLATASVD QTVKIWDLRQ VRGKASFLYS LPHRHPVNAA CFSPDGARLL
TTDQKSEIRV YSASQWDCPL GLIPHPHRHF QHLTPIKAAW HPRYNLIVVG RYPDPNFKSC
TPYELRTIDV FDGNSGKMMC QLYDPESSGI SSLNEFNPMG DTLASAMGYH ILIWSQEEAR
TRK*
speed 0.94 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