mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 1.33488416388006e-05 (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) | chr19:58572979G>AN/A show variant in all transcripts IGV | |||||||||||||
HGNC symbol | ZNF135 | |||||||||||||
Ensembl transcript ID | ENST00000506786 | |||||||||||||
Genbank transcript ID | N/A | |||||||||||||
UniProt peptide | N/A | |||||||||||||
alteration type | single base exchange | |||||||||||||
alteration region | 5'UTR | |||||||||||||
DNA changes | cDNA.493G>A g.2373G>A | |||||||||||||
AA changes | N/A | |||||||||||||
position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||
frameshift | N/A | |||||||||||||
known variant | Reference ID: rs1469087
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regulatory features | H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation | |||||||||||||
phyloP / phastCons |
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splice sites |
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distance from splice site | 32 | |||||||||||||
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 | 555 / 555 | |||||||||||||
chromosome | 19 | |||||||||||||
strand | 1 | |||||||||||||
last intron/exon boundary | 685 | |||||||||||||
theoretical NMD boundary in CDS | 80 | |||||||||||||
length of CDS | 1851 | |||||||||||||
coding sequence (CDS) position | N/A | |||||||||||||
cDNA position (for ins/del: last normal base / first normal base) | 493 | |||||||||||||
gDNA position (for ins/del: last normal base / first normal base) | 2373 | |||||||||||||
chromosomal position (for ins/del: last normal base / first normal base) | 58572979 | |||||||||||||
original gDNA sequence snippet | GTTTGAGGACGTGGTAGTGGGCTTCAGCCAGGAGGAGTGGG | |||||||||||||
altered gDNA sequence snippet | GTTTGAGGACGTGGTAGTGGACTTCAGCCAGGAGGAGTGGG | |||||||||||||
original cDNA sequence snippet | GTTTGAGGACGTGGTAGTGGGCTTCAGCCAGGAGGAGTGGG | |||||||||||||
altered cDNA sequence snippet | GTTTGAGGACGTGGTAGTGGACTTCAGCCAGGAGGAGTGGG | |||||||||||||
wildtype AA sequence | MLDTFRLLVS VGHWLPKPNV ISLLEQEAEL WAVESRLPQG VYPDLETRPK VKLSVLKQGI SEEISNSVIL VERFLWDGLW YCRGEDTEGH WEWSCESLES LAVPVAFTPV KTPVLEQWQR NGFGENISLN PDLPHQPMTP ERQSPHTWGT RGKREKPDLN VLQKTCVKEK PYKCQECGKA FSHSSALIEH HRTHTGERPY ECHECLKGFR NSSALTKHQR IHTGEKPYKC TQCGRTFNQI APLIQHQRTH TGEKPYECSE CGKSFSFRSS FSQHERTHTG EKPYECSECG KAFRQSIHLT QHLRIHTGEK PYQCGECGKA FSHSSSLTKH QRIHTGEKPY ECHECGKAFT QITPLIQHQR THTGEKPYEC GECGKAFSQS TLLTEHRRIH TGEKPYGCNE CGKTFSHSSS LSQHERTHTG EKPYECSQCG KAFRQSTHLT QHQRIHTGEK PYECNDCGKA FSHSSSLTKH QRIHTGEKPY ECNQCGRAFS QLAPLIQHQR IHTGEKPYEC NQCGRAFSQS SLLIEHQRIH TKEKPYGCNE CGKSFSHSSS LSQHERTHTG EKPYECHDCG KSFRQSTHLT QHRRIHTGEK PYACRDCGKA FTHSSSLTKH QRTHTG* | |||||||||||||
mutated AA sequence | N/A | |||||||||||||
speed | 0.83 s | |||||||||||||