Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1      (explain)
Summary
  • known as potential disease variant: rs3045 (probable pathogenic)
  • known disease mutation at this position (HGMD CD044777)
  • known disease mutation at this position (HGMD CM020266)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:108205715A>GN/A show variant in all transcripts   IGV
HGNC symbol C11orf65
Ensembl transcript ID ENST00000525729
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.132544T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs28942103
Allele 'G' was neither found in ExAC nor 1000G.
known as potential disease variant: rs3045 (probable pathogenic for Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia variant) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CD044777)

known disease mutation at this position, please check HGMD for details (HGMD ID CD044777)
known disease mutation at this position, please check HGMD for details (HGMD ID CM020266)

known disease mutation at this position, please check HGMD for details (HGMD ID CD044777)
known disease mutation at this position, please check HGMD for details (HGMD ID CM020266)
known disease mutation at this position, please check HGMD for details (HGMD ID CD044777)

known disease mutation at this position, please check HGMD for details (HGMD ID CD044777)
known disease mutation at this position, please check HGMD for details (HGMD ID CM020266)
known disease mutation at this position, please check HGMD for details (HGMD ID CD044777)
known disease mutation at this position, please check HGMD for details (HGMD ID CM020266)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.1011
5.1011
(flanking)1.3540.996
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 25917
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 N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 71 / 71
chromosome 11
strand -1
last intron/exon boundary 711
theoretical NMD boundary in CDS 590
length of CDS 741
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)		 132544
chromosomal position
(for ins/del: last normal base / first normal base)		 108205715
original gDNA sequence snippet GTATAGTCACCAGATTTCCATATTCTCCTGTGTGGTCCACC
altered gDNA sequence snippet GTATAGTCACCAGATTTCCACATTCTCCTGTGTGGTCCACC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MPWKEESEFT KQDKAARVIQ QAWKSFLVKF PPDIYYKIFT HRPIEDLCAN SPRNYAKLPA
KHTSHNKNDH LQEEDHSGWY HRIENNGWRP VSDTFWLSTD GMVVEDKKES EFHFSKLKRR
QDLEKKRKLR KIEWMRQMYY SGSLEAKSTH HETLGLIHTA TKGLIRAFED GGIDSVMEWE
VDEVLNWTNT LNFDEYIASW KEIATSNSSA NFKGIFFRIL FSIKMEYEEF LSSPTPANVN
TILPQW*
mutated AA sequence N/A
speed 1.00 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