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mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: simple_aae, prob: 0.999999999999101 (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) | chr3:73111368T>CN/A show variant in all transcripts IGV | |||||||||||||
| HGNC symbol | EBLN2 | |||||||||||||
| Ensembl transcript ID | ENST00000533473 | |||||||||||||
| Genbank transcript ID | NM_018029 | |||||||||||||
| UniProt peptide | Q6P2I7 | |||||||||||||
| alteration type | single base exchange | |||||||||||||
| alteration region | CDS | |||||||||||||
| DNA changes | c.136T>C cDNA.559T>C g.559T>C | |||||||||||||
| AA changes | S46P Score: 74 explain score(s) | |||||||||||||
| position(s) of altered AA if AA alteration in CDS | 46 | |||||||||||||
| frameshift | no | |||||||||||||
| known variant | Reference ID: rs2231924
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| regulatory features | H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation | |||||||||||||
| phyloP / phastCons |
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| splice sites | no abrogation of potential splice sites | |||||||||||||
| distance from splice site | 559 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| conservation protein level for non-synonymous changes | ||||||||||||||
| protein features | no protein features affected | |||||||||||||
| length of protein | normal | |||||||||||||
| AA sequence altered | yes | |||||||||||||
| position of stopcodon in wt / mu CDS | 819 / 819 | |||||||||||||
| position (AA) of stopcodon in wt / mu AA sequence | 273 / 273 | |||||||||||||
| position of stopcodon in wt / mu cDNA | 1242 / 1242 | |||||||||||||
| 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 | 424 / 424 | |||||||||||||
| chromosome | 3 | |||||||||||||
| strand | 1 | |||||||||||||
| last intron/exon boundary | 1 | |||||||||||||
| theoretical NMD boundary in CDS | cannot be calculated, too little distance between start ATG and last intron/exon boundary | |||||||||||||
| length of CDS | 819 | |||||||||||||
| coding sequence (CDS) position | 136 | |||||||||||||
| cDNA position (for ins/del: last normal base / first normal base) | 559 | |||||||||||||
| gDNA position (for ins/del: last normal base / first normal base) | 559 | |||||||||||||
| chromosomal position (for ins/del: last normal base / first normal base) | 73111368 | |||||||||||||
| original gDNA sequence snippet | AATTAAGTCGGAACCAATTTTCCACAATGTCTCATCTAAGA | |||||||||||||
| altered gDNA sequence snippet | AATTAAGTCGGAACCAATTTCCCACAATGTCTCATCTAAGA | |||||||||||||
| original cDNA sequence snippet | AATTAAGTCGGAACCAATTTTCCACAATGTCTCATCTAAGA | |||||||||||||
| altered cDNA sequence snippet | AATTAAGTCGGAACCAATTTCCCACAATGTCTCATCTAAGA | |||||||||||||
| wildtype AA sequence | MGYFLKLYAY VNSHSLFVWV CDRSYKRSFR PMILNKIKEL SRNQFSTMSH LRKDSQPSSP GDDAMDRSGL PDLQGRFELS GKNRQYPLDA LEPQPSIGDI KDIKKAAKSM LDPAHKSHFH PVTPSLVFLC FIFDGLHQAL LSVGVSKRSN TVVGNENEER GTPYASRFKD MPNFIALEKS SVLRHCCDLL IGIAAGSSDK ICTSSLQVQR RFKAMMASIG RLSHGESADL LISCNAESAI GWISSRPWVG ELMFTLLFGD FESPLHKLRK SS* | |||||||||||||
| mutated AA sequence | MGYFLKLYAY VNSHSLFVWV CDRSYKRSFR PMILNKIKEL SRNQFPTMSH LRKDSQPSSP GDDAMDRSGL PDLQGRFELS GKNRQYPLDA LEPQPSIGDI KDIKKAAKSM LDPAHKSHFH PVTPSLVFLC FIFDGLHQAL LSVGVSKRSN TVVGNENEER GTPYASRFKD MPNFIALEKS SVLRHCCDLL IGIAAGSSDK ICTSSLQVQR RFKAMMASIG RLSHGESADL LISCNAESAI GWISSRPWVG ELMFTLLFGD FESPLHKLRK SS* | |||||||||||||
| speed | 0.97 s | |||||||||||||