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 CM970060)
  • known disease mutation: rs1980 (pathogenic)
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:43251552G>AN/A show variant in all transcripts   IGV
HGNC symbol PKIG
Ensembl transcript ID ENST00000372887
Genbank transcript ID N/A
UniProt peptide Q9Y2B9
alteration type single base exchange
alteration region intron
DNA changes g.91127G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121908729
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs1980 (pathogenic for Severe combined immunodeficiency due to ADA deficiency|Partial adenosine deaminase deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM970060)

known disease mutation at this position, please check HGMD for details (HGMD ID CM970060)
known disease mutation at this position, please check HGMD for details (HGMD ID CM970060)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.2840.02
5.4681
(flanking)1.9441
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased91130wt: 0.65 / mu: 0.74wt: CGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGT
mu: CGTGTCCCAGCCGCTCTATCTTGAGTATGTCCACAGCCTGT		 gtct|TGAG
Donor marginally increased91128wt: 0.9169 / mu: 0.9294 (marginal change - not scored)wt: CTCTGTCTTGAGTAT
mu: CTCTATCTTGAGTAT		 CTGT|cttg
Donor increased91118wt: 0.23 / mu: 0.28wt: GTCCCAGCCGCTCTG
mu: GTCCCAGCCGCTCTA		 CCCA|gccg
Donor increased91132wt: 0.26 / mu: 0.51wt: GTCTTGAGTATGTCC
mu: ATCTTGAGTATGTCC		 CTTG|agta
distance from splice site 1022
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features no protein features affected
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 304 / 304
chromosome 20
strand 1
last intron/exon boundary 455
theoretical NMD boundary in CDS 101
length of CDS 195
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)		 91127
chromosomal position
(for ins/del: last normal base / first normal base)		 43251552
original gDNA sequence snippet AGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCC
altered gDNA sequence snippet AGCCGTGTCCCAGCCGCTCTATCTTGAGTATGTCCACAGCC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MMEVESSYSD FISCDRTGRR NAVPDIQGDS EAVSVRKLAG DMGELALEGA EMDLTMLPWL
VSNS*
mutated AA sequence N/A
speed 0.48 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