mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 6.48016442681246e-15 (classification due to TGP/ExAC, 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) | chr10:72535007C>TN/A show variant in all transcripts IGV | ||||||||||||||||
HGNC symbol | TBATA | ||||||||||||||||
Ensembl transcript ID | ENST00000456372 | ||||||||||||||||
Genbank transcript ID | N/A | ||||||||||||||||
UniProt peptide | Q96M53 | ||||||||||||||||
alteration type | single base exchange | ||||||||||||||||
alteration region | intron | ||||||||||||||||
DNA changes | g.10151G>A | ||||||||||||||||
AA changes | N/A | ||||||||||||||||
position(s) of altered AA if AA alteration in CDS | N/A | ||||||||||||||||
frameshift | N/A | ||||||||||||||||
known variant | Reference ID: rs2254174
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regulatory features | DNase1, Open Chromatin, DNase1 Hypersensitive Site H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation | ||||||||||||||||
phyloP / phastCons |
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splice sites |
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distance from splice site | 894 | ||||||||||||||||
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 | 1 / 1 | ||||||||||||||||
chromosome | 10 | ||||||||||||||||
strand | -1 | ||||||||||||||||
last intron/exon boundary | 691 | ||||||||||||||||
theoretical NMD boundary in CDS | 640 | ||||||||||||||||
length of CDS | 753 | ||||||||||||||||
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) | 10151 | ||||||||||||||||
chromosomal position (for ins/del: last normal base / first normal base) | 72535007 | ||||||||||||||||
original gDNA sequence snippet | GGTCCTGGAGCTCCTGTGTCGGATCCTGGAAACAGACTTGC | ||||||||||||||||
altered gDNA sequence snippet | GGTCCTGGAGCTCCTGTGTCAGATCCTGGAAACAGACTTGC | ||||||||||||||||
original cDNA sequence snippet | N/A | ||||||||||||||||
altered cDNA sequence snippet | N/A | ||||||||||||||||
wildtype AA sequence | MATDVQLADY PLMSPKAELK LEKKSGRKPR SPRDSGPQKE LVIPGIVDFE RIRRALRTPK PQTPGTYCFG RLSHHSFFSR HHPHPQHVTH IQDLTGKPVC VVRDFPAPLP ESTVFSGCQM GIPTISVPIG DPQSNRNPQL SSEAWKKELK ELASRVAFLT KEDELKKKEK EQKEEPLREQ GAKYSAETGR LIPASTRAVG RRRSHQGQQS QSSSRHEGVQ AFLLQDQELL KKTSLWDSCR QQWLSSFPSP * | ||||||||||||||||
mutated AA sequence | N/A | ||||||||||||||||
speed | 0.87 s | ||||||||||||||||