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 CM063884)
  • known disease mutation: rs17612 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:116280877A>TN/A show variant in all transcripts   IGV
HGNC symbol CASQ2
Ensembl transcript ID ENST00000456138
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.30526T>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121434550
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs17612 (pathogenic for Ventricular tachycardia, catecholaminergic polymorphic, 2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM063884)

known disease mutation at this position, please check HGMD for details (HGMD ID CM063884)
known disease mutation at this position, please check HGMD for details (HGMD ID CM063884)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.4111
3.7581
(flanking)4.521
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 5282
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 174 / 174
chromosome 1
strand -1
last intron/exon boundary 975
theoretical NMD boundary in CDS 751
length of CDS 987
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)		 30526
chromosomal position
(for ins/del: last normal base / first normal base)		 116280877
original gDNA sequence snippet CATTGAAGACTACATCAAACTCATTGGCTTTTTCAAGAGTG
altered gDNA sequence snippet CATTGAAGACTACATCAAACACATTGGCTTTTTCAAGAGTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MKRTHLFIVG IYFLSSCRAE EGLNFPTYDG KDRVVSLSEK NFKQVLKKYD LLCLYYHEPV
SSDKVTQKQF QLKEIVLELV AQVLEHKAIG FVMVDAKKEA KLAKKLDYKA FEEAAEHFQP
YIKFFATFDK GVAKKLSLKM NEVDFYEPFM DEPIAIPNKP YTEEELVEFV KEHQRPTLRR
LRPEEMFETW EDDLNGIHIV AFAEKSDPDG YEFLEILKQV ARDNTDNPDL SILWIDPDDF
PLLVAYWEKT FKIDLFRPQI GVVNVTDADS VWMEIPDDDD LPTAEELEDW IEDVLSGKIN
TEDDDEDDDD DDNSDEEDND DSDDDDDE*
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