|
|
mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 0.999999097025886 (classification due to TGP/ExAC, real probability is shown anyway) (explain) | ||||||||||||
| Summary |
|
hyperlink | ||||||||||||
| analysed issue | analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| name of alteration | no title | |||||||||||||
| alteration (phys. location) | chr19:14829749C>TN/A show variant in all transcripts IGV | |||||||||||||
| HGNC symbol | ZNF333 | |||||||||||||
| Ensembl transcript ID | ENST00000540689 | |||||||||||||
| Genbank transcript ID | N/A | |||||||||||||
| UniProt peptide | N/A | |||||||||||||
| alteration type | single base exchange | |||||||||||||
| alteration region | intron | |||||||||||||
| DNA changes | g.29137C>T | |||||||||||||
| AA changes | N/A | |||||||||||||
| position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||
| frameshift | N/A | |||||||||||||
| known variant | Reference ID: rs3764626
| |||||||||||||
| regulatory features | ZNF274, Transcription Factor, ZNF274 Transcription Factor Binding H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation Gene Associated, Regulatory Feature, Gene associated regulatory feature H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation | |||||||||||||
| phyloP / phastCons |
| |||||||||||||
| splice sites | no abrogation of potential splice sites | |||||||||||||
| distance from splice site | 1204 | |||||||||||||
| 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 | 124 / 124 | |||||||||||||
| chromosome | 19 | |||||||||||||
| strand | 1 | |||||||||||||
| last intron/exon boundary | 1024 | |||||||||||||
| theoretical NMD boundary in CDS | 850 | |||||||||||||
| length of CDS | 912 | |||||||||||||
| 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) | 29137 | |||||||||||||
| chromosomal position (for ins/del: last normal base / first normal base) | 14829749 | |||||||||||||
| original gDNA sequence snippet | GGAGAAACTGTATGAGTGCGCGACTTGCGGTCAGGTCTTGA | |||||||||||||
| altered gDNA sequence snippet | GGAGAAACTGTATGAGTGCGTGACTTGCGGTCAGGTCTTGA | |||||||||||||
| original cDNA sequence snippet | N/A | |||||||||||||
| altered cDNA sequence snippet | N/A | |||||||||||||
| wildtype AA sequence | MESVTFEDVA VEFIQEWALL DSARRSLCKY RMLDQCRTLA SRGTPPCKPS CVSQLGQRAE PKATERGILR ATGVAWESQL KPEELPSMQD LLEEASSRDM QMGPGLFLRM QLVPSIEERE TPLTREDRPA LQEPPWSLGC TGLKAAMQIQ RVVIPVPTLG HRNPWVARDS AVPARDPAWL QEDKVEEEAM APGLPTACSQ EPVTFADVAV VFTPEEWVFL DSTQRSLYRD VMLENYRNLA SVADQLCKPN ALSYLEERGE QWTTDRGVLS DTCAEPQCQP QEAIPSQDTF TEILSIDVKG PPN* | |||||||||||||
| mutated AA sequence | N/A | |||||||||||||
| speed | 0.86 s | |||||||||||||