mutation t@sting |
documentation |
Prediction |
disease causing |
Model: without_aae, prob: 1 (classification due to ClinVar, 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) | chr13:52532674C>TN/A show variant in all transcripts IGV | |||||||||||||||||||||
HGNC symbol | ATP7B | |||||||||||||||||||||
Ensembl transcript ID | ENST00000417240 | |||||||||||||||||||||
Genbank transcript ID | N/A | |||||||||||||||||||||
UniProt peptide | N/A | |||||||||||||||||||||
alteration type | single base exchange | |||||||||||||||||||||
alteration region | 5'UTR | |||||||||||||||||||||
DNA changes | cDNA.86G>A g.52957G>A | |||||||||||||||||||||
AA changes | N/A | |||||||||||||||||||||
position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||||||||||
frameshift | N/A | |||||||||||||||||||||
known variant | Reference ID: rs137853285
Allele 'T' was neither found in ExAC nor 1000G. known disease mutation: rs156281 (pathogenic for Wilson disease|not provided) dbSNP NCBI variation viewer known disease mutation at this position, please check HGMD for details (HGMD ID CM960120) known disease mutation at this position, please check HGMD for details (HGMD ID CM960120) known disease mutation at this position, please check HGMD for details (HGMD ID CM960121) known disease mutation at this position, please check HGMD for details (HGMD ID CM960120) known disease mutation at this position, please check HGMD for details (HGMD ID CM960121) known disease mutation at this position, please check HGMD for details (HGMD ID CM960120) known disease mutation at this position, please check HGMD for details (HGMD ID CM960120) known disease mutation at this position, please check HGMD for details (HGMD ID CM960121) known disease mutation at this position, please check HGMD for details (HGMD ID CM960120) known disease mutation at this position, please check HGMD for details (HGMD ID CM960121) | |||||||||||||||||||||
regulatory features | H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation | |||||||||||||||||||||
phyloP / phastCons |
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splice sites |
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distance from splice site | 7 | |||||||||||||||||||||
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 | 143 / 143 | |||||||||||||||||||||
chromosome | 13 | |||||||||||||||||||||
strand | -1 | |||||||||||||||||||||
last intron/exon boundary | 1900 | |||||||||||||||||||||
theoretical NMD boundary in CDS | 1707 | |||||||||||||||||||||
length of CDS | 2031 | |||||||||||||||||||||
coding sequence (CDS) position | N/A | |||||||||||||||||||||
cDNA position (for ins/del: last normal base / first normal base) | 86 | |||||||||||||||||||||
gDNA position (for ins/del: last normal base / first normal base) | 52957 | |||||||||||||||||||||
chromosomal position (for ins/del: last normal base / first normal base) | 52532674 | |||||||||||||||||||||
original gDNA sequence snippet | TCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTACGTT | |||||||||||||||||||||
altered gDNA sequence snippet | TCCTTGTCTTTCAGCTCCTCAGTGGGTGGTACTTCTACGTT | |||||||||||||||||||||
original cDNA sequence snippet | ATGGAAATAAAGCACTCCTCGGTGGGTGGTACTTCTACGTT | |||||||||||||||||||||
altered cDNA sequence snippet | ATGGAAATAAAGCACTCCTCAGTGGGTGGTACTTCTACGTT | |||||||||||||||||||||
wildtype AA sequence | MDVLIVLATS IAYVYSLVIL VVAVAEKAER SPVTFFDTPP MLFVFIALGR WLEHLAKSKT SEALAKLMSL QATEATVVTL GEDNLIIREE QVPMELVQRG DIVKVVPGGK FPVDGKVLEG NTMADESLIT GEAMPVTKKP GSTVIAGSIN AHGSVLIKAT HVGNDTTLAQ IVKLVEEAQM SKAPIQQLAD RFSGYFVPFI IIMSTLTLVV WIVIGFIDFG VVQRYFPNPN KHISQTEVII RFAFQTSITV LCIACPCSLG LATPTAVMVG TGVAAQNGIL IKGGKPLEMA HKELGTETLG YCTDFQAVPG CGIGCKVSNV EGILAHSERP LSAPASHLNE AGSLPAEKDA VPQTFSVLIG NREWLRRNGL TISSDVSDAM TDHEMKGQTA ILVAIDGVLC GMIAIADAVK QEAALAVHTL QSMGVDVVLI TGDNRKTARA IATQVGINKV FAEVLPSHKV AKVQELQNKG KKVAMVGDGV NDSPALAQAD MGVAIGTGTD VAIEAADVVL IRNDLLDVVA SIHLSKRTVR RIRINLVLAL IYNLVGIPIA AGVFMPIGIV LQPWMGSAAM AASSVSVVLS SLQLKCYKKP DLERYEAQAH GHMKPLTASQ VSVHIGMDDR WRDSPRATPW DQVSYVSQVS LSSLTSDKPS RHSAAADDDG DKWSLLLNGR DEEQYI* | |||||||||||||||||||||
mutated AA sequence | N/A | |||||||||||||||||||||
speed | 0.87 s | |||||||||||||||||||||