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mutation t@sting |
documentation |
Prediction |
disease causing |
Model: without_aae, prob: 0.999999999999763 (explain) | ||||||||||||
| Summary |
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hyperlink | ||||||||||||
| analysed issue | analysis result | |||||||||||||
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| name of alteration | no title | |||||||||||||
| alteration (phys. location) | chr9:34646728G>CN/A show variant in all transcripts IGV | |||||||||||||
| HGNC symbol | GALT | |||||||||||||
| Ensembl transcript ID | ENST00000450095 | |||||||||||||
| Genbank transcript ID | NM_001258332 | |||||||||||||
| UniProt peptide | N/A | |||||||||||||
| alteration type | single base exchange | |||||||||||||
| alteration region | 5'UTR | |||||||||||||
| DNA changes | cDNA.96G>C g.8599G>C | |||||||||||||
| AA changes | N/A | |||||||||||||
| position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||
| frameshift | N/A | |||||||||||||
| known variant | Reference ID: rs111033637
Allele 'C' was neither found in ExAC nor 1000G. known disease mutation at this position, please check HGMD for details (HGMD ID CM023625) known disease mutation at this position, please check HGMD for details (HGMD ID CM023625) known disease mutation at this position, please check HGMD for details (HGMD ID CM023625) | |||||||||||||
| regulatory features | ATF3, Transcription Factor, ATF3 Transcription Factor Binding Ap2gamma, Transcription Factor, Ap2gamma Transcription Factor Binding CTCF, Transcription Factor, CCCTC-binding factor Cfos, Transcription Factor, Cfos TF binding Cmyc, Transcription Factor, Cmyc TF binding DNase1, Open Chromatin, DNase1 Hypersensitive Site E2F6, Transcription Factor, E2F6 Transcription Factor Binding H2AZ, Histone, Histone 2A variant Z H3K18ac, Histone, Histone 3 Lysine 18 Acetylation H3K27ac, Histone, Histone 3 Lysine 27 Acetylation H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation H3K9ac, Histone, Histone 3 Lysine 9 Acetylation H4K5ac, Histone, Histone 4 Lysine 5 Acetylation HEY1, Transcription Factor, HEY1 Transcription Factor Binding Max, Transcription Factor, Max TF binding PolII, Polymerase, RNA Polymerase II Promoter Associated, Regulatory Feature, Promoter like regulatory feature Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding TAF1, Transcription Factor, TAF1 Transcription Factor Binding Tcf12, Transcription Factor, Tcf12 Transcription Factor Binding USF1, Transcription Factor, USF1 Transcription Factor Binding | |||||||||||||
| phyloP / phastCons |
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| splice sites | no abrogation of potential splice sites | |||||||||||||
| distance from splice site | 56 | |||||||||||||
| 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 | 272 / 272 | |||||||||||||
| chromosome | 9 | |||||||||||||
| strand | 1 | |||||||||||||
| last intron/exon boundary | 1004 | |||||||||||||
| theoretical NMD boundary in CDS | 682 | |||||||||||||
| length of CDS | 813 | |||||||||||||
| coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position (for ins/del: last normal base / first normal base) | 96 | |||||||||||||
| gDNA position (for ins/del: last normal base / first normal base) | 8599 | |||||||||||||
| chromosomal position (for ins/del: last normal base / first normal base) | 34646728 | |||||||||||||
| original gDNA sequence snippet | CGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGA | |||||||||||||
| altered gDNA sequence snippet | CGCAGTGGAACCGATCCTCACCAACGCCAGCAGGCGTCAGA | |||||||||||||
| original cDNA sequence snippet | CGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGA | |||||||||||||
| altered cDNA sequence snippet | CGCAGTGGAACCGATCCTCACCAACGCCAGCAGGCGTCAGA | |||||||||||||
| wildtype AA sequence | MTLSTLCVLG PSEPTESKVM CFHPWSDVTL PLMSVPEIRA VVDAWASVTE ELGAQYPWVQ IFENKGAMMG CSNPHPHCQV WASSFLPDIA QREERSQQAY KSQHGEPLLM EYSRQELLRK ERLVLTSEHW LVLVPFWATW PYQTLLLPRR HVRRLPELTP AERDDLASIM KKLLTKYDNL FETSFPYSMG WHGAPTGSEA GANWNHWQLH AHYYPPLLRS ATVRKFMVGY EMLAQAQRDL TPEQAAERLR ALPEVHYHLG QKDRETATIA * | |||||||||||||
| mutated AA sequence | N/A | |||||||||||||
| speed | 0.33 s | |||||||||||||