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mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 0.812157630728796 (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) | chr6:160113872A>GN/A show variant in all transcripts IGV | |||||||||||||
| HGNC symbol | SOD2 | |||||||||||||
| Ensembl transcript ID | ENST00000546087 | |||||||||||||
| Genbank transcript ID | N/A | |||||||||||||
| UniProt peptide | N/A | |||||||||||||
| alteration type | single base exchange | |||||||||||||
| alteration region | 5'UTR | |||||||||||||
| DNA changes | cDNA.1737T>C g.69690T>C | |||||||||||||
| AA changes | N/A | |||||||||||||
| position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||
| frameshift | N/A | |||||||||||||
| known variant | Reference ID: rs4880
known disease mutation at this position, please check HGMD for details (HGMD ID CM962694) | |||||||||||||
| regulatory features | Promoter Associated, Regulatory Feature, Promoter like regulatory feature H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation Max, Transcription Factor, Max TF binding H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation E2F6, Transcription Factor, E2F6 Transcription Factor Binding PolII, Polymerase, RNA Polymerase II H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation Cmyc, Transcription Factor, Cmyc TF binding H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation H3K18ac, Histone, Histone 3 Lysine 18 Acetylation H3K79me2, Histone, Histone 3 Lysine 79 di-methylation H3K9ac, Histone, Histone 3 Lysine 9 Acetylation Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding H3K27ac, Histone, Histone 3 Lysine 27 Acetylation H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation TAF1, Transcription Factor, TAF1 Transcription Factor Binding H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation DNase1, Open Chromatin, DNase1 Hypersensitive Site | |||||||||||||
| phyloP / phastCons |
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| splice sites | no abrogation of potential splice sites | |||||||||||||
| distance from splice site | 24 | |||||||||||||
| 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 | 1829 / 1829 | |||||||||||||
| chromosome | 6 | |||||||||||||
| strand | -1 | |||||||||||||
| last intron/exon boundary | 2379 | |||||||||||||
| theoretical NMD boundary in CDS | 500 | |||||||||||||
| length of CDS | 531 | |||||||||||||
| coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position (for ins/del: last normal base / first normal base) | 1737 | |||||||||||||
| gDNA position (for ins/del: last normal base / first normal base) | 69690 | |||||||||||||
| chromosomal position (for ins/del: last normal base / first normal base) | 160113872 | |||||||||||||
| original gDNA sequence snippet | CAGCAGGCAGCTGGCTCCGGTTTTGGGGTATCTGGGCTCCA | |||||||||||||
| altered gDNA sequence snippet | CAGCAGGCAGCTGGCTCCGGCTTTGGGGTATCTGGGCTCCA | |||||||||||||
| original cDNA sequence snippet | CAGCAGGCAGCTGGCTCCGGTTTTGGGGTATCTGGGCTCCA | |||||||||||||
| altered cDNA sequence snippet | CAGCAGGCAGCTGGCTCCGGCTTTGGGGTATCTGGGCTCCA | |||||||||||||
| wildtype AA sequence | MQLHHSKHHA AYVNNLNVTE EKYQEALAKG DVTAQIALQP ALKFNGGGHI NHSIFWTNLS PNGGGEPKGE LLEAIKRDFG SFDKFKEKLT AASVGVQGSG WGWLGFNKER GHLQIAACPN QDPLQGTTGL IPLLGIDVWE HAYYLQYKNV RPDYLKAIWN VINWENVTER YMACKK* | |||||||||||||
| mutated AA sequence | N/A | |||||||||||||
| speed | 0.83 s | |||||||||||||