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mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 3.44262273421701e-40 (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) | chr6:116950734G>AN/A show variant in all transcripts IGV | |||||||||||||
| HGNC symbol | RSPH4A | |||||||||||||
| Ensembl transcript ID | ENST00000368581 | |||||||||||||
| Genbank transcript ID | NM_001161664 | |||||||||||||
| UniProt peptide | N/A | |||||||||||||
| alteration type | single base exchange | |||||||||||||
| alteration region | intron | |||||||||||||
| DNA changes | g.13093G>A | |||||||||||||
| AA changes | N/A | |||||||||||||
| position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||
| frameshift | N/A | |||||||||||||
| known variant | Reference ID: rs6927567
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| regulatory features | Gene Associated, Regulatory Feature, Gene associated regulatory feature H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation SP1, Transcription Factor, SP1 Transcription Factor Binding | |||||||||||||
| phyloP / phastCons |
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| splice sites | no abrogation of potential splice sites | |||||||||||||
| distance from splice site | 864 | |||||||||||||
| 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 | 146 / 146 | |||||||||||||
| chromosome | 6 | |||||||||||||
| strand | 1 | |||||||||||||
| last intron/exon boundary | 1926 | |||||||||||||
| theoretical NMD boundary in CDS | 1730 | |||||||||||||
| length of CDS | 1803 | |||||||||||||
| 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) | 13093 | |||||||||||||
| chromosomal position (for ins/del: last normal base / first normal base) | 116950734 | |||||||||||||
| original gDNA sequence snippet | CAACATTCATTCCCAGGGTCGCTGTAATTGGTTCAACTCCA | |||||||||||||
| altered gDNA sequence snippet | CAACATTCATTCCCAGGGTCACTGTAATTGGTTCAACTCCA | |||||||||||||
| original cDNA sequence snippet | N/A | |||||||||||||
| altered cDNA sequence snippet | N/A | |||||||||||||
| wildtype AA sequence | MEDSTSPKQE KENQEELGET RRPWEGKTAA SPQYSEPESS EPLEAKQGPE TGRQSRSSRP WSPQSRAKTP LGGPAGPETS SPAPVSPREP SSSPSPLAPA RQDLAAPPQS DRTTSVIPEA GTPYPDPLEQ SSDKRESTPH HTSQSEGNTF QQSQQPKPHL CGRRDVSYNN AKQKELRFDV FQEEDSNSDY DLQQPAPGGS EVAPSMLEIT IQNAKAYLLK TSSNSGFNLY DHLSNMLTKI LNERPENAVD IFENISQDVK MAHFSKKFDA LQNENELLPT YEIAEKQKAL FLQGHLEGVD QELEDEIAEN ALPNVMESAF YFEQAGVGLG TDETYRIFLA LKQLTDTHPI QRCRFWGKIL GLEMNYIVAE VEFREGEDEE EVEEEDVAEE RDNGESEAHE DEEDELPKSF YKAPQAIPKE ESRTGANKYV YFVCNEPGRP WVKLPPVIPA QIVIARKIKK FFTGRLDAPI ISYPPFPGNE SNYLRAQIAR ISAGTHVSPL GFYQFGEEEG EEEEEAEGGR NSFEENPDFE GIQVIDLVES LSNWVHHVQH ILSQRFRIYP PGQHGYPQIS FHNMLLQSFN PTFGLEHMPS PMAKSLKIST * | |||||||||||||
| mutated AA sequence | N/A | |||||||||||||
| speed | 1.01 s | |||||||||||||