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mutation t@sting |
documentation |
Prediction |
disease causing |
Model: without_aae, prob: 1 (explain) | ||||||||||||
| Summary |
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hyperlink | ||||||||||||
| analysed issue | analysis result | |||||||||||||
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| name of alteration | no title | |||||||||||||
| alteration (phys. location) | chr15:43507389C>TN/A show variant in all transcripts IGV | |||||||||||||
| HGNC symbol | EPB42 | |||||||||||||
| Ensembl transcript ID | ENST00000540029 | |||||||||||||
| Genbank transcript ID | N/A | |||||||||||||
| UniProt peptide | N/A | |||||||||||||
| alteration type | single base exchange | |||||||||||||
| alteration region | intron | |||||||||||||
| DNA changes | g.6093G>A | |||||||||||||
| AA changes | N/A | |||||||||||||
| position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||
| frameshift | N/A | |||||||||||||
| known variant | Reference ID: rs104894487
known disease mutation at this position, please check HGMD for details (HGMD ID CM920241) known disease mutation at this position, please check HGMD for details (HGMD ID CM920241) known disease mutation at this position, please check HGMD for details (HGMD ID CM920241) | |||||||||||||
| 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 |
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| distance from splice site | 1077 | |||||||||||||
| 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 | 185 / 185 | |||||||||||||
| chromosome | 15 | |||||||||||||
| strand | -1 | |||||||||||||
| last intron/exon boundary | 1864 | |||||||||||||
| theoretical NMD boundary in CDS | 1629 | |||||||||||||
| length of CDS | 1842 | |||||||||||||
| 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) | 6093 | |||||||||||||
| chromosomal position (for ins/del: last normal base / first normal base) | 43507389 | |||||||||||||
| original gDNA sequence snippet | CTGTGACCACACCTGCGGACGCTGTCATTGGCCACTACTCG | |||||||||||||
| altered gDNA sequence snippet | CTGTGACCACACCTGCGGACACTGTCATTGGCCACTACTCG | |||||||||||||
| original cDNA sequence snippet | N/A | |||||||||||||
| altered cDNA sequence snippet | N/A | |||||||||||||
| wildtype AA sequence | MGQALGIKSC DFQAARNNEE HHTKALSSRR LFVRRGQPFT IILYFRAPVR AFLPALKKVA LTAQTEDAVF LKNEAQRMEY LLNQNGLIYL GTADCIQAES WDFGQFEGDV IDLSLRLLSK DKQVEKWSQP VHVARVLGAL LHFLKEQRVL PTPQTQATQE GALLNKRRGS VPILRQWLTG RGRPVYDGQA WVLAAVACTV LRCLGIPARV VTTFASAQGT GGRLLIDEYY NEEGLQNGEG QRGRIWIFQT STECWMTRPA LPQGYDGWQI LHPSAPNGGG VLGSCDLVPV RAVKEGTLGL TPAVSDLFAA INASCVVWKC CEDGTLELTD SNTKYVGNNI STKGVGSDRC EDITQNYKYP EGSLQEKEVL ERVEKEKMER EKDNGIRPPS LETASPLYLL LKAPSSLPLR GDAQISVTLV NHSEQEKAVQ LAIGVQAVHY NGVLAAKLWR KKLHLTLSAN LEKIITIGLF FSNFERNPPE NTFLRLTAMA THSESNLSCF AQEDIAICRP HLAIKMPEKA EQYQPLTASV SLQNSLDAPM EDCVISILGR GLIHRERSYR FRSVWPENTM CAKFQFTPTH VGLQRLTVEV DCNMFQNLTN YKSVTVVAPE LSA* | |||||||||||||
| mutated AA sequence | N/A | |||||||||||||
| speed | 0.38 s | |||||||||||||