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mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 0.999999475113686 (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) | chr10:56423968A>CN/A show variant in all transcripts IGV | |||||||||||||
| HGNC symbol | PCDH15 | |||||||||||||
| Ensembl transcript ID | ENST00000409834 | |||||||||||||
| Genbank transcript ID | N/A | |||||||||||||
| UniProt peptide | N/A | |||||||||||||
| alteration type | single base exchange | |||||||||||||
| alteration region | 5'UTR | |||||||||||||
| DNA changes | cDNA.450T>G g.963735T>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||
| frameshift | N/A | |||||||||||||
| known variant | Reference ID: rs11004439
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| regulatory features | N/A | |||||||||||||
| phyloP / phastCons |
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| splice sites | no abrogation of potential splice sites | |||||||||||||
| distance from splice site | 37 | |||||||||||||
| Kozak consensus sequence altered? | no | |||||||||||||
| 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 | 577 / 577 | |||||||||||||
| chromosome | 10 | |||||||||||||
| strand | -1 | |||||||||||||
| last intron/exon boundary | 3963 | |||||||||||||
| theoretical NMD boundary in CDS | 3336 | |||||||||||||
| length of CDS | 3453 | |||||||||||||
| coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position (for ins/del: last normal base / first normal base) | 450 | |||||||||||||
| gDNA position (for ins/del: last normal base / first normal base) | 963735 | |||||||||||||
| chromosomal position (for ins/del: last normal base / first normal base) | 56423968 | |||||||||||||
| original gDNA sequence snippet | CTTCAGGGATCATCCTGGGCTCTCTCTTTGAAATCTGCTTG | |||||||||||||
| altered gDNA sequence snippet | CTTCAGGGATCATCCTGGGCGCTCTCTTTGAAATCTGCTTG | |||||||||||||
| original cDNA sequence snippet | CTTCAGGGATCATCCTGGGCTCTCTCTTTGAAATCTGCTTG | |||||||||||||
| altered cDNA sequence snippet | CTTCAGGGATCATCCTGGGCGCTCTCTTTGAAATCTGCTTG | |||||||||||||
| wildtype AA sequence | MPSYQGYILE SAPVGATISD SLNLTSPLRI VALDKDIEDV PPSGVPTKDP ELHLFLNDYT SVFTVTQTGI TRYLTLLQPV DREEQQTYTF SITAFDGVQE SEPVIVNIQV MDANDNTPTF PEISYDVYVY TDMRPGDSVI QLTAVDADEG SNGEITYEIL VGAQGDFIIN KTTGLITIAP GVEMIVGRTY ALTVQAADNA PPAERRNSIC TVYIEVLPPN NQSPPRFPQL MYSLEISEAM RVGAVLLNLQ ATDREGDSIT YAIENGDPQR VFNLSETTGI LTLGKALDRE STDRYILIIT ASDGRPDGTS TATVNIVVTD VNDNAPVFDP YLPRNLSVVE EEANAFVGQV KATDPDAGIN GQVHYSLGNF NNLFRITSNG SIYTAVKLNR EVRDYYELVV VATDGAVHPR HSTLTLAIKV LDIDDNSPVF TNSTYTVLVE ENLPAGTTIL QIEAKDVDLG ANVSYRIRSP EVKHFFALHP FTGELSLLRS LDYEAFPDQE ASITFLVEAF DIYGTMPPGI ATVTVIVKDM NDYPPVFSKR IYKGMVAPDA VKGTPITTVY AEDADPPGLP ASRVRYRVDD VQFPYPASIF EVEEDSGRVI TRVNLNEEPT TIFKLVVVAF DDGEPVMSSS ATVKILVLHP GEIPRFTQEE YRPPPVSELA TKGTMVGVIS AAAINQSIVY SIVSGNEEDT FGINNITGVI YVNGPLDYET RTSYVLRVQA DSLEVVLANL RVPSKSNTAK VYIEIQDENN HPPVFQKKFY IGGVSEDARM FTSVLRVKAT DKDTGNYSVM AYRLIIPPIK EGKEGFVVET YTGLIKTAML FHNMRRSYFK FQVIATDDYG KGLSGKADVL VSVVNQLDMQ VIVSNVPPTL VEKKIEDLTE ILDRYVQEQI PGAKVVVESI GARRHGDAFS LEDYTKCDLT VYAIDPQTNR AIDRNELFKF LDGKLLDINK DFQPYYGEGG RILEIRTPEA VTSIKKRGES LGYTEGALLA LAFIIILCCI PAILVVLVSY RQFKVRQAEC TKTARIQAAL PAAKPAVPAP APVAAPPPPP PPPPGAHLYE ELGDSSMHKN YPWSLELILA RNMDKIITVM SMGMKCLNMG VAVDCYHQLD RRNMVRWLVK LRKNMRRKRK SQRKLKNQRL KLESLVRRKK * | |||||||||||||
| mutated AA sequence | N/A | |||||||||||||
| speed | 0.88 s | |||||||||||||