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 CM002427)
  • known disease mutation: rs5128 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:8757494A>GN/A show variant in all transcripts   IGV
HGNC symbol AICDA
Ensembl transcript ID ENST00000537228
Genbank transcript ID N/A
UniProt peptide Q9GZX7
alteration type single base exchange
alteration region intron
DNA changes g.7974T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs104894327
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs5128 (pathogenic for Hyper-IgM syndrome type 2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM002427)

known disease mutation at this position, please check HGMD for details (HGMD ID CM002427)
known disease mutation at this position, please check HGMD for details (HGMD ID CM002427)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.3681
2.9161
(flanking)4.4011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased7966wt: 0.35 / mu: 0.48wt: GAAGATTATTTTTACTGCTGGAATACTTTTGTAGAAAACCA
mu: GAAGATTATTTTTACTGCTGGAATACTTCTGTAGAAAACCA		 ctgg|AATA
Donor increased7978wt: 0.85 / mu: 0.95wt: TTTGTAGAAAACCAC
mu: TCTGTAGAAAACCAC		 TGTA|gaaa
Donor gained79750.61mu: ACTTCTGTAGAAAAC TTCT|gtag
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
183198REGIONNuclear export signal.might get lost (downstream of altered splice site)
193193MUTAGENF->A: Completely abolishes nuclear import; when associated with W-24 or D- 112. Little affect on nuclear import; when associated with A-10. Greatly impaired nuclear import; when associated with K-20 or G-50. Almost completely abolishes nuclear import; when associated with S-18 and V-19.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 101 / 101
chromosome 12
strand -1
last intron/exon boundary 614
theoretical NMD boundary in CDS 463
length of CDS 567
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)		 7974
chromosomal position
(for ins/del: last normal base / first normal base)		 8757494
original gDNA sequence snippet TTTTTACTGCTGGAATACTTTTGTAGAAAACCACGAAAGAA
altered gDNA sequence snippet TTTTTACTGCTGGAATACTTCTGTAGAAAACCACGAAAGAA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MDSLLMNRRK FLYQFKNVRW AKGRRETYLC YVVKRRDSAT SFSLDFGYLR NKNGCHVELL
FLRYISDWDL DPGRCYRVTW FTSWSPCYDC ARHVADFLRG NPNLSLRIFT ARLYFCEDRK
AEPEGLRRLH RAGVQIAIMT FKENHERTFK AWEGLHENSV RLSRQLRRIL LPLYEVDDLR
DAFRTLGL*
mutated AA sequence N/A
speed 0.74 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