Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 0.999999983186033 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM087750)
  • known disease mutation: rs18082 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:21162132G>AN/A show variant in all transcripts   IGV
HGNC symbol RNASE4
Ensembl transcript ID ENST00000397995
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.9874G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121909544
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs18082 (pathogenic for Amyotrophic lateral sclerosis type 9) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM087750)

known disease mutation at this position, please check HGMD for details (HGMD ID CM087750)
known disease mutation at this position, please check HGMD for details (HGMD ID CM087750)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1710.986
0.8570.993
(flanking)0.6070.995
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 5382
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 132 / 132
chromosome 14
strand 1
last intron/exon boundary 115
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 444
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)		 9874
chromosomal position
(for ins/del: last normal base / first normal base)		 21162132
original gDNA sequence snippet CTTGTGAAAATGGCTTACCTGTCCACTTGGATCAGTCAATT
altered gDNA sequence snippet CTTGTGAAAATGGCTTACCTATCCACTTGGATCAGTCAATT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MALQRTHSLL LLLLLTLLGL GLVQPSYGQD GMYQRFLRQH VHPEETGGSD RYCNLMMQRR
KMTLYHCKRF NTFIHEDIWN IRSICSTTNI QCKNGKMNCH EGVVKVTDCR DTGSSRAPNC
RYRAIASTRR VVIACEGNPQ VPVHFDG*
mutated AA sequence N/A
speed 0.80 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