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mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 2.24769741181696e-37 (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) | chr9:73150918C>TN/A show variant in all transcripts IGV | |||||||||||||||||||||
| HGNC symbol | TRPM3 | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000377111 | |||||||||||||||||||||
| Genbank transcript ID | N/A | |||||||||||||||||||||
| UniProt peptide | Q9HCF6 | |||||||||||||||||||||
| alteration type | single base exchange | |||||||||||||||||||||
| alteration region | intron | |||||||||||||||||||||
| DNA changes | g.910903G>A | |||||||||||||||||||||
| AA changes | N/A | |||||||||||||||||||||
| position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||||||||||
| frameshift | N/A | |||||||||||||||||||||
| known variant | Reference ID: rs41287373
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| regulatory features | H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation | |||||||||||||||||||||
| phyloP / phastCons |
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| splice sites |
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| distance from splice site | 551 | |||||||||||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||||||||||
| conservation protein level for non-synonymous changes | N/A | |||||||||||||||||||||
| protein features |
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| 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 | 245 / 245 | |||||||||||||||||||||
| chromosome | 9 | |||||||||||||||||||||
| strand | -1 | |||||||||||||||||||||
| last intron/exon boundary | 4200 | |||||||||||||||||||||
| theoretical NMD boundary in CDS | 3905 | |||||||||||||||||||||
| length of CDS | 3978 | |||||||||||||||||||||
| 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) | 910903 | |||||||||||||||||||||
| chromosomal position (for ins/del: last normal base / first normal base) | 73150918 | |||||||||||||||||||||
| original gDNA sequence snippet | GGACAGCCTGTCCATGAGGAGACTGTCCAGAACATCGGCTT | |||||||||||||||||||||
| altered gDNA sequence snippet | GGACAGCCTGTCCATGAGGAAACTGTCCAGAACATCGGCTT | |||||||||||||||||||||
| original cDNA sequence snippet | N/A | |||||||||||||||||||||
| altered cDNA sequence snippet | N/A | |||||||||||||||||||||
| wildtype AA sequence | MPEPWGTVYF LGIAQVFSFL FSWWNLEGVM NQADAPRPLN WTIRKLCHAA FLPSVRLLKA QKSWIERAFY KRECVHIIPS TKDPHRCCCG RLIGQHVGLT PSISVLQNEK NESRLSRNDI QSEKWSISKH TQLSPTDAFG TIEFQGGGHS NKAMYVRVSF DTKPDLLLHL MTKEWQLELP KLLISVHGGL QNFELQPKLK QVFGKGLIKA AMTTGAWIFT GGVNTGVIRH VGDALKDHAS KSRGKICTIG IAPWGIVENQ EDLIGRDVVR PYQTMSNPMS KLTVLNSMHS HFILADNGTT GKYGAEVKLR RQLEKHISLQ KINTRIGQGV PVVALIVEGG PNVISIVLEY LRDTPPVPVV VCDGSGRASD ILAFGHKYSE EGGLINESLR DQLLVTIQKT FTYTRTQAQH LFIILMECMK KKELITVFRM GSEGHQDIDL AILTALLKGA NASAPDQLSL ALAWNRVDIA RSQIFIYGQQ WPVGSLEQAM LDALVLDRVD FVKLLIENGV SMHRFLTISR LEELYNTRHG PSNTLYHLVR DVKKGNLPPD YRISLIDIGL VIEYLMGGAY RCNYTRKRFR TLYHNLFGPK RPKALKLLGM EDDIPLRRGR KTTKKREEEV DIDLDDPEIN HFPFPFHELM VWAVLMKRQK MALFFWQHGE EAMAKALVAC KLCKAMAHEA SENDMVDDIS QELNHNSRDF GQLAVELLDQ SYKQDEQLAM KLLTYELKNW SNATCLQLAV AAKHRDFIAH TCSQMLLTDM WMGRLRMRKN SGLKVILGIL LPPSILSLEF KNKDDMPYMS QAQEIHLQEK EAEEPEKPTK EKEEEDMELT AMLGRNNGES SRKKDEEEVQ SKHRLIPLGR KIYEFYNAPI VKFWFYTLAY IGYLMLFNYI VLVKMERWPS TQEWIVISYI FTLGIEKMRE ILMSEPGKLL QKVKVWLQEY WNVTDLIAIL LFSVGMILRL QDQPFRSDGR VIYCVNIIYW YIRLLDIFGV NKYLGPYVMM IGKMMIDMMY FVIIMLVVLM SFGVARQAIL FPNEEPSWKL AKNIFYMPYW MIYGEVFADQ IDPPCGQNET REDGKIIQLP PCKTGAWIVP AIMACYLLVA NILLVNLLIA VFNNTFFEVK SISNQVWKFQ RYQLIMTFHE RPVLPPPLII FSHMTMIFQH LCCRWRKHES DPDERDYGLK LFITDDELKK VHDFEEQCIE EYFREKDDRF NSSNDERIRV TSERVENMSM RLEEVNEREH SMKASLQTVD IRLAQLEDLI GRMATALERL TGLERAESNK IRSRTSSDCT DAAYIVRQSS FNSQEGNTFK LQESIDPAEH PLYSV* | |||||||||||||||||||||
| mutated AA sequence | N/A | |||||||||||||||||||||
| speed | 0.35 s | |||||||||||||||||||||