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mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 0.999999758055544 (classification due to TGP/ExAC, real probability is shown anyway) (explain) | ||||||||||||
| Summary |
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hyperlink | ||||||||||||
| analysed issue | analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| name of alteration | no title | |||||||||||||
| alteration (phys. location) | chr17:39883350G>AN/A show variant in all transcripts IGV | |||||||||||||
| HGNC symbol | JUP | |||||||||||||
| Ensembl transcript ID | ENST00000540235 | |||||||||||||
| Genbank transcript ID | N/A | |||||||||||||
| UniProt peptide | N/A | |||||||||||||
| alteration type | single base exchange | |||||||||||||
| alteration region | intron | |||||||||||||
| DNA changes | g.59834C>T | |||||||||||||
| AA changes | N/A | |||||||||||||
| position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||
| frameshift | N/A | |||||||||||||
| known variant | Reference ID: rs4523977
known disease mutation at this position, please check HGMD for details (HGMD ID CM088454) | |||||||||||||
| 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 | 40281 | |||||||||||||
| 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 | 1 / 1 | |||||||||||||
| chromosome | 17 | |||||||||||||
| strand | -1 | |||||||||||||
| last intron/exon boundary | 1682 | |||||||||||||
| theoretical NMD boundary in CDS | 1631 | |||||||||||||
| length of CDS | 1776 | |||||||||||||
| 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) | 59834 | |||||||||||||
| chromosomal position (for ins/del: last normal base / first normal base) | 39883350 | |||||||||||||
| original gDNA sequence snippet | GCTGGCTGAGGAGCTCAGAACGTCTCTAAGGAGGATGATCT | |||||||||||||
| altered gDNA sequence snippet | GCTGGCTGAGGAGCTCAGAATGTCTCTAAGGAGGATGATCT | |||||||||||||
| original cDNA sequence snippet | N/A | |||||||||||||
| altered cDNA sequence snippet | N/A | |||||||||||||
| wildtype AA sequence | MEVMNLMEQP IKVTEWQQTY TYDSGIHSGA NTCVPSVSSK GIMEEDEACG RQYTLKKTTT YTQGVPPSQG DLEYQMSTTA RAKRVREAMC PGVSGEDSSL LLATQVEGQA TNLQRLAEPS QLLKSAIVHL INYQDDAELA TRALPELTKL LNDEDPVVVT KAAMIVNQLS KKEASRRALM GSPQLVAAVV RTMQNTSDLD TARCTTSILH NLSHHREGLL AIFKSGGIPA LVRMLSSPVE SVLFYAITTL HNLLLYQEGA KMAVRLADGL QKMVPLLNKN NPKFLAITTD CLQLLAYGNQ ESKILTATVD NANILLQIDN ARLAADDFRT KFETEQALRL SVEADINGLR RVLDELTLAR ADLEMQIENL KEELAYLKKN HEEEMNALRG QVGGEINVEM DAAPGVDLSR ILNEMRDQYE KMAEKNRKDA EDWFFSKTEE LNREVATNSE LVQSGKSEIS ELRRTMQALE IELQSQLSMK ASLEGNLAET ENRYCVQLSQ IQGLIGSVEE QLAQLRCEME QQNQEYKILL DVKTRLEQEI ATYRRLLEGE DAHLTQYKKE PVTTRQVRTI VEEVQDGKVI SSREQVHQTT R* | |||||||||||||
| mutated AA sequence | N/A | |||||||||||||
| speed | 1.03 s | |||||||||||||