mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 0.999437693872607 (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) | chr1:1551927T>CN/A show variant in all transcripts IGV | ||||||||||||||||
HGNC symbol | MIB2 | ||||||||||||||||
Ensembl transcript ID | ENST00000504599 | ||||||||||||||||
Genbank transcript ID | N/A | ||||||||||||||||
UniProt peptide | N/A | ||||||||||||||||
alteration type | single base exchange | ||||||||||||||||
alteration region | 5'UTR | ||||||||||||||||
DNA changes | cDNA.238T>C g.1133T>C | ||||||||||||||||
AA changes | N/A | ||||||||||||||||
position(s) of altered AA if AA alteration in CDS | N/A | ||||||||||||||||
frameshift | N/A | ||||||||||||||||
known variant | Reference ID: rs7418389
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regulatory features | Promoter Associated, Regulatory Feature, Promoter like regulatory feature H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation PolII, Polymerase, RNA Polymerase II H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation Gene Associated, Regulatory Feature, Gene associated regulatory feature H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation H3K9ac, Histone, Histone 3 Lysine 9 Acetylation H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation DNase1, Open Chromatin, DNase1 Hypersensitive Site | ||||||||||||||||
phyloP / phastCons |
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splice sites |
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distance from splice site | 68 | ||||||||||||||||
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 | 328 / 328 | ||||||||||||||||
chromosome | 1 | ||||||||||||||||
strand | 1 | ||||||||||||||||
last intron/exon boundary | 2999 | ||||||||||||||||
theoretical NMD boundary in CDS | 2621 | ||||||||||||||||
length of CDS | 2910 | ||||||||||||||||
coding sequence (CDS) position | N/A | ||||||||||||||||
cDNA position (for ins/del: last normal base / first normal base) | 238 | ||||||||||||||||
gDNA position (for ins/del: last normal base / first normal base) | 1133 | ||||||||||||||||
chromosomal position (for ins/del: last normal base / first normal base) | 1551927 | ||||||||||||||||
original gDNA sequence snippet | CTAGAGGCCAGTCCCAAAGTTTCCAGGCATCAGGGCTGCAG | ||||||||||||||||
altered gDNA sequence snippet | CTAGAGGCCAGTCCCAAAGTCTCCAGGCATCAGGGCTGCAG | ||||||||||||||||
original cDNA sequence snippet | CTAGAGGCCAGTCCCAAAGTTTCCAGGCATCAGGGCTGCAG | ||||||||||||||||
altered cDNA sequence snippet | CTAGAGGCCAGTCCCAAAGTCTCCAGGCATCAGGGCTGCAG | ||||||||||||||||
wildtype AA sequence | MDPSAHRSRA APPNMDPDPQ AGVQVGMRVV RGVDWKWGQQ DGGEGGVGTV VELGRHGSPS TPDRTVVVQW DQGTRTNYRA GYQGAHDLLL YDNAQIGVRH PNIICDCCKK HGLRGMRWKC RVCLDYDLCT QCYMHNKHEL AHAFDRYETA HSRPVTLSPR QGLPRIPLRG IFQGAKVVRG PDWEWGSQDG GEGKPGRVVD IRGWDVETGR SVASVTWADG TTNVYRVGHK GKVDLKCVGE AAGGFYYKDH LPRLGKPAEL QRRVSADSQP FQHGDKVKCL LDTDVLREMQ EGHGGWNPRM AEFIGQTGTV HRITDRGDVR VQFNHETRWT FHPGALTKHH SFWVGDVVRV IGDLDTVKRL QAGHGEWTDD MAPALGRVGK VVKVFGDGNL RVAVAGQRWT FSPSCLVAYR PEEDANLDVA ERARENKSSL SVALDKLRAQ KSDPEHPGRL VVEVALGNAA RALDLLRRRP EQVDTKNQGR TALQVAAYLG QVELIRLLLQ ARAGVDLPDD EGNTALHYAA LGNQPEATRV LLSAGCRADA INSTQSTALH VAVQRGFLEV VRALCERGCD VNLPDAHSDT PLHSAISAGT GASGIVEVLT EVPNIDVTAT NSQGFTLLHH ASLKGHALAV RKILARARQL VDAKKEDGFT ALHLAALNNH REVAQILIRE GRCDVNVRNR KLQSPLHLAV QQAHVGLVPL LVDAGCSVNA EDEEGDTALH VALQRHQLLP LVADGAGGDP GPLQLLSRLQ ASGLPGSAEL TVGAAVACFL ALEGADVSYT NHRGRSPLDL AAEGRVLKAL QGCAQRFRER QAGGGAAPGP RQTLGTPNTV TNLHVGAAPG PEAAECLVCS ELALLVLFSP CQHRTVCEEC ARRMKKCIRC QVVVSKKLRP DGSEVASAAP APGPPRQLVE ELQSRYRQME ERITCPICID SHIRLVFQCG HGACAPCGSA LSACPICRQP IRDRIQIFV* | ||||||||||||||||
mutated AA sequence | N/A | ||||||||||||||||
speed | 0.68 s | ||||||||||||||||