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mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 1.3868373172375e-12 (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) | chr16:66432423T>CN/A show variant in all transcripts IGV | |||||||||||||
| HGNC symbol | CDH5 | |||||||||||||
| Ensembl transcript ID | ENST00000539168 | |||||||||||||
| Genbank transcript ID | N/A | |||||||||||||
| UniProt peptide | N/A | |||||||||||||
| alteration type | single base exchange | |||||||||||||
| alteration region | 5'UTR | |||||||||||||
| DNA changes | cDNA.701T>C g.31891T>C | |||||||||||||
| AA changes | N/A | |||||||||||||
| position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||
| frameshift | N/A | |||||||||||||
| known variant | Reference ID: rs1049970
known disease mutation at this position, please check HGMD for details (HGMD ID CM1212658) | |||||||||||||
| 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 | 42 | |||||||||||||
| Kozak consensus sequence altered? | no | |||||||||||||
| 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 | 835 / 835 | |||||||||||||
| chromosome | 16 | |||||||||||||
| strand | 1 | |||||||||||||
| last intron/exon boundary | 989 | |||||||||||||
| theoretical NMD boundary in CDS | 104 | |||||||||||||
| length of CDS | 672 | |||||||||||||
| coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position (for ins/del: last normal base / first normal base) | 701 | |||||||||||||
| gDNA position (for ins/del: last normal base / first normal base) | 31891 | |||||||||||||
| chromosomal position (for ins/del: last normal base / first normal base) | 66432423 | |||||||||||||
| original gDNA sequence snippet | AAACGTGAAGTTCAAATTCATCTTGAATACTGAGAACAACT | |||||||||||||
| altered gDNA sequence snippet | AAACGTGAAGTTCAAATTCACCTTGAATACTGAGAACAACT | |||||||||||||
| original cDNA sequence snippet | AAACGTGAAGTTCAAATTCATCTTGAATACTGAGAACAACT | |||||||||||||
| altered cDNA sequence snippet | AAACGTGAAGTTCAAATTCACCTTGAATACTGAGAACAACT | |||||||||||||
| wildtype AA sequence | MPSRTGTSTL TVAVCKCNEQ GEFTFCEDMA AQVGVSIQAV VAILLCILTI TVITLLIFLR RRLRKQARAH GKSVPEIHEQ LVTYDEEGGG EMDTTSYDVS VLNSVRRGGA KPPRPALDAR PSLYAQVQKP PRHAPGAHGG PGEMAAMIEV KKDEADHDGD GPPYDTLHIY GYEGSESIAE SLSSLGTDSS DSDVDYDFLN DWGPRFKMLA ELYGSDPREE LLY* | |||||||||||||
| mutated AA sequence | N/A | |||||||||||||
| speed | 0.62 s | |||||||||||||