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mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 3.42815702036121e-09 (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) | chr16:29908433C>GN/A show variant in all transcripts IGV | |||||||||||||
| HGNC symbol | SEZ6L2 | |||||||||||||
| Ensembl transcript ID | ENST00000350527 | |||||||||||||
| Genbank transcript ID | NM_001243332 | |||||||||||||
| UniProt peptide | N/A | |||||||||||||
| alteration type | single base exchange | |||||||||||||
| alteration region | intron | |||||||||||||
| DNA changes | g.2436G>C | |||||||||||||
| AA changes | N/A | |||||||||||||
| position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||
| frameshift | N/A | |||||||||||||
| known variant | Reference ID: rs11649499
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| 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 | 201 | |||||||||||||
| 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 | 72 / 72 | |||||||||||||
| chromosome | 16 | |||||||||||||
| strand | -1 | |||||||||||||
| last intron/exon boundary | 2604 | |||||||||||||
| theoretical NMD boundary in CDS | 2482 | |||||||||||||
| length of CDS | 2562 | |||||||||||||
| 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) | 2436 | |||||||||||||
| chromosomal position (for ins/del: last normal base / first normal base) | 29908433 | |||||||||||||
| original gDNA sequence snippet | CACTGTCCCAGGATCTGATCGGGACCCCACGCTAGCCACCC | |||||||||||||
| altered gDNA sequence snippet | CACTGTCCCAGGATCTGATCCGGACCCCACGCTAGCCACCC | |||||||||||||
| original cDNA sequence snippet | N/A | |||||||||||||
| altered cDNA sequence snippet | N/A | |||||||||||||
| wildtype AA sequence | MGTPRAQHPP PPQLLFLILL SCPWIQGLPL KEEEILPEPG SETPTVASEA LAELLHGALL RRGPEMGYLP GPPLGPEGGE EETTTTIITT TTVTTTVTSP VLCNNNISEG EGYVESPDLG SPVSRTLGLL DCTYSIHVYP GYGIEIQVQT LNLSQEEELL VLAGGGSPGL APRLLANSSM LGEGQVLRSP TNRLLLHFQS PRVPRGGGFR IHYQAYLLSC GFPPRPAHGD VSVTDLHPGG TATFHCDSGY QLQGEETLIC LNGTRPSWNG ETPSCMASCG GTIHNATLGR IVSPEPGGAV GPNLTCRWVI EAAEGRRLHL HFERVSLDED NDRLMVRSGG SPLSPVIYDS DMDDVPERGL ISDAQSLYVE LLSETPANPL LLSLRFEAFE EDRCFAPFLA HGNVTTTDPE YRPGALATFS CLPGYALEPP GPPNAIECVD PTEPHWNDTE PACKAMCGGE LSEPAGVVLS PDWPQSYSPG QDCVWGVHVQ EEKRILLQVE ILNVREGDML TLFDGDGPSA RVLAQLRGPQ PRRRLLSSGP DLTLQFQAPP GPPNPGLGQG FVLHFKEVPR NDTCPELPPP EWGWRTASHG DLIRGTVLTY QCEPGYELLG SDILTCQWDL SWSAAPPACQ KIMTCADPGE IANGHRTASD AGFPVGSHVQ YRCLPGYSLE GAAMLTCYSR DTGTPKWSDR VPKCALKYEP CLNPGVPENG YQTLYKHHYQ AGESLRFFCY EGFELIGEVT ITCVPGHPSQ WTSQPPLCKV AYEELLDNRK LEVTQTTDPS RQLEGGNLAL AILLPLGLVI VLGSGVYIYY TKLQGKSLFG FSGSHSYSPI TVESDFSNPL YEAGDTREYE VSI* | |||||||||||||
| mutated AA sequence | N/A | |||||||||||||
| speed | 0.81 s | |||||||||||||