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mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 0.999999911147771 (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) | chr19:19136541C>TN/A show variant in all transcripts IGV | |||||||||||||
| HGNC symbol | SUGP2 | |||||||||||||
| Ensembl transcript ID | ENST00000456085 | |||||||||||||
| Genbank transcript ID | N/A | |||||||||||||
| UniProt peptide | N/A | |||||||||||||
| alteration type | single base exchange | |||||||||||||
| alteration region | intron | |||||||||||||
| DNA changes | g.7840G>A | |||||||||||||
| AA changes | N/A | |||||||||||||
| position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||
| frameshift | N/A | |||||||||||||
| known variant | Reference ID: rs4808907
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| regulatory features | H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation | |||||||||||||
| phyloP / phastCons |
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| splice sites |
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| distance from splice site | 123 | |||||||||||||
| 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 | 255 / 255 | |||||||||||||
| chromosome | 19 | |||||||||||||
| strand | -1 | |||||||||||||
| last intron/exon boundary | 2553 | |||||||||||||
| theoretical NMD boundary in CDS | 2248 | |||||||||||||
| length of CDS | 2586 | |||||||||||||
| 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) | 7840 | |||||||||||||
| chromosomal position (for ins/del: last normal base / first normal base) | 19136541 | |||||||||||||
| original gDNA sequence snippet | CTGACTCTGTGCTTAGGGGCGGCAGTCAAGTCCAGGCCAGA | |||||||||||||
| altered gDNA sequence snippet | CTGACTCTGTGCTTAGGGGCAGCAGTCAAGTCCAGGCCAGA | |||||||||||||
| original cDNA sequence snippet | N/A | |||||||||||||
| altered cDNA sequence snippet | N/A | |||||||||||||
| wildtype AA sequence | MTATFAKNVA GIWNFLTLIL GTRSLATGNW GISVLRTGNL RSVVLGNKTL AIQFLKSPLG HRSIVLIPLG LDLKNLRLPR RKMSFDIIDK SDVFSRFGIE IIKWAGFHTI KDDIKFSQLF QTLFELETET CAKMLASFKC SLKPEHRDFC FFTIKFLKHS ALKTPRVDNE FLNMLLDKGA VKTKNCFFEI IKPFDKYIMR LQDRLLKSVT PLLMACNAYE LSVKMKTLSN PLDLALALET TNSLCRKSLA LLGQTFSLAS SFRQEKILEA VGLQDIAPSP AAFPNFEDST LFGREYIDHL KAWLVSSGCP LQVKKAEPEP MREEEKMIPP TKPEIQAKAP SSLSDAVPQR ADHRVVGTID QLVKRVIEGS LSPKERTLLK EDPAYWFLSD ENSLEYKYYK LKLAEMQRMS ENLRGADQKP TSADCAVRAM LYSRAVRNLK KKLLPWQRRG LLRAQGLRGW KARRATTGTQ TLLSSGTRLK HHGRQAPGLS QAKPSLPDRN DAAKDCPPDP VGPSPQDPSL EASGPSPKPA GVDISEAPQT SSPCPSADID MKTMETAEKL ARFVAQVGPE IEQFSIENST DNPDLWFLHD QNSSAFKFYR KKVFELCPSI CFTSSPHNLH TGGGDTTGSQ ESPVDLMEGE AEFEDEPPPR EAELESPEVM PEEEDEDDED GGEEAPAPGG AGKSEGSTPA DGLPGEAAED DLAGAPALSQ ASSGTCFPRK RISSKSLKVG MIPAPKRVCL IQEPKVHEPV RIAYDRPRGR PMSKKKKPKD LDFAQQKLTD KNLGFQMLQK MGWKEGHGLG SLGKGIREPV SVYAAGSLGW EWVGPQSFHL QPAAWLLHSQ DGLQLAVDFC FLNRRHLQMR S* | |||||||||||||
| mutated AA sequence | N/A | |||||||||||||
| speed | 0.74 s | |||||||||||||