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mutation t@sting |
documentation |
Prediction |
disease causing |
Model: without_aae, prob: 1 (classification due to ClinVar, 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) | chr6:131902466G>TN/A show variant in all transcripts IGV | |||||||||||||
| HGNC symbol | MED23 | |||||||||||||
| Ensembl transcript ID | ENST00000354577 | |||||||||||||
| Genbank transcript ID | NM_001270521 | |||||||||||||
| UniProt peptide | Q9ULK4 | |||||||||||||
| alteration type | single base exchange | |||||||||||||
| alteration region | intron | |||||||||||||
| DNA changes | g.46904C>A | |||||||||||||
| AA changes | N/A | |||||||||||||
| position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||
| frameshift | N/A | |||||||||||||
| known variant | Reference ID: rs104893943
Allele 'T' was neither found in ExAC nor 1000G. known disease mutation: rs2394 (pathogenic for Arginase deficiency) dbSNP NCBI variation viewer known disease mutation at this position, please check HGMD for details (HGMD ID CM950091) known disease mutation at this position, please check HGMD for details (HGMD ID CM950091) known disease mutation at this position, please check HGMD for details (HGMD ID CM950091) | |||||||||||||
| regulatory features | H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation | |||||||||||||
| phyloP / phastCons |
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| splice sites |
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| distance from splice site | 6383 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| conservation protein level for non-synonymous changes | N/A | |||||||||||||
| protein features | no protein features affected | |||||||||||||
| 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 | 157 / 157 | |||||||||||||
| chromosome | 6 | |||||||||||||
| strand | -1 | |||||||||||||
| last intron/exon boundary | 4252 | |||||||||||||
| theoretical NMD boundary in CDS | 4045 | |||||||||||||
| length of CDS | 4098 | |||||||||||||
| 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) | 46904 | |||||||||||||
| chromosomal position (for ins/del: last normal base / first normal base) | 131902466 | |||||||||||||
| original gDNA sequence snippet | CAGGTTGTCCATGCAAGTTTCCACTTGTGGTTGTCAGTGGA | |||||||||||||
| altered gDNA sequence snippet | CAGGTTGTCCATGCAAGTTTACACTTGTGGTTGTCAGTGGA | |||||||||||||
| original cDNA sequence snippet | N/A | |||||||||||||
| altered cDNA sequence snippet | N/A | |||||||||||||
| wildtype AA sequence | METQLQSIFE EVVKTEVIEE AFPGMFMDTP EDEKTKLISC LGAFRQFWGG LSQESHEQCI QWIVKFIHGQ HSPKRISFLY DCLAMAVETG LLPPRLVCES LINSDTLEWE RTQLWALTFK LVRKIIGGVD YKGVRDLLKV ILEKILTIPN TVSSAVVQQL LAAREVIAYI LERNACLLPA YFAVTEIRKL YPEGKLPHWL LGNLVSDFVD TFRPTARINS ICGRCSLLPV VNNSGAICNS WKLDPATLRF PLKGLLPYDK DLFEPQTALL RYVLEQPYSR DMVCNMLGLN KQTLNIAQHK QRCPVLEDQL VDLVVYAMER SETEEKFDDG GTSQLLWQHL SSQLIFFVLF QFASFPHMVL SLHQKLAGRG LIKGRDHLMW VLLQFISGSI QKNALADFLP VMKLFDLLYP EKEYIPVPDI NKPQSTHAFA MTCIWIHLNR KAQNDNSKLQ IPIPHSLRLH HEFLQQSLRN KSLQMNDYKI ALLCNAYSTN SECFTLPMGA LVETIYGNGI MRIPLPGTNC MASGSITPLP MNLLDSLTVH AKMSLIHSIA TRVIKLAHAK SSVALAPALV ETYSRLLVYM EIESLGIKGF ISQLLPTVFK SHAWGILHTL LEMFSYRMHH IQPHYRVQLL SHLHTLAAVA QTNQNQLHLC VESTALRLIT ALGSSEVQPQ FTRFLSDPKT VLSAESEELN RALILTLARA THVTDFFTGS DSIQGTWCKD ILQTIMSFTP HNWASHTLSC FPGPLQAFFK QNNVPQESRF NLKKNVEEEY RKWKSMSNEN DIITHFSMQG SPPLFLCLLW KMLLETDHIN QIGYRVLERI GARALVAHVR TFADFLVYEF STSAGGQQLN KCIEILNDMV WKYNIVTLDR LILCLAMRSH EGNEAQVCYF IIQLLLLKPN DFRNRVSDFV KENSPEHWLQ NDWHTKHMNY HKKYPEKLYF EGLAEQVDPP VQIQSPYLPI YFGNVCLRFL PVFDIVIHRF LELLPVSKSL ETLLDHLGGL YKFHDRPVTY LYNTLHYYEM HLRDRAFLKR KLVHAIIGSL KDNRPQGWCL SDTYLKCAMN AREENPWVPD DTYYCRLIGR LVDTMAGKSP GPFPNCDWRF NEFPNPAAHA LHVTCVELMA LAVSGKEVGN ALLNVVLKSQ PLVPRENITA WMNAIGLIIT ALPEPYWIVL HDRIVSVISS PSLTSETEWV GYPFRLFDFT ACHQSYSEMS CSYTLALAHA VWHHSSIGQL SLIPKFLTEV LLPIVKTEFQ LLYVYHLVGP FLQRFQQERT RCMIEIGVAF YDMLLNVDQC STHLNYMDPI CDFLYHMKYM FTGDSVKEQV EKIICNLKPA LKLRLRFITH ISKMEPAAVP PQAMNSGSPA PQSNQ* | |||||||||||||
| mutated AA sequence | N/A | |||||||||||||
| speed | 0.09 s | |||||||||||||