mutation t@sting |
documentation |
Prediction |
disease causing |
Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain) | ||||||||||||
Summary |
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hyperlink | ||||||||||||
analysed issue | analysis result | |||||||||||||
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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 |
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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 | 0.75 s | |||||||||||||