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 | ENST00000400370 | |||||||||||||||||||||
Genbank transcript ID | N/A | |||||||||||||||||||||
UniProt peptide | N/A | |||||||||||||||||||||
alteration type | single base exchange | |||||||||||||||||||||
alteration region | intron | |||||||||||||||||||||
DNA changes | 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 | 8377 | |||||||||||||||||||||
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 | 75 / 75 | |||||||||||||||||||||
chromosome | 13 | |||||||||||||||||||||
strand | -1 | |||||||||||||||||||||
last intron/exon boundary | 2909 | |||||||||||||||||||||
theoretical NMD boundary in CDS | 2784 | |||||||||||||||||||||
length of CDS | 3108 | |||||||||||||||||||||
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) | 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 | N/A | |||||||||||||||||||||
altered cDNA sequence snippet | N/A | |||||||||||||||||||||
wildtype AA sequence | MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM GFEASVVSGE AMPVTKKPGS TVIAGSINAH GSVLIKATHV GNDTTLAQIV KLVEEAQMSK APIQQLADRF SGYFVPFIII MSTLTLVVWI VIGFIDFGVV QRYFPNPNKH ISQTEVIIRF AFQTSITVLC IACPCSLGLA TPTAVMVGTG VAAQNGILIK GGKPLEMAHK IKTVMFDKTG TITHGVPRVM RVLLLGDVAT LPLRKVLAVV GTAEASSEHP LGVAVTKYCK EELGTETLGY CTDFQAVPGC GIGCKVSNVE GILAHSERPL SAPASHLNEA GSLPAEKDAV PQTFSVLIGN REWLRRNGLT ISSDVSDAMT DHEMKGQTAI LVAIDGVLCG MIAIADAVKQ EAALAVHTLQ SMGVDVVLIT GDNRKTARAI ATQVGINKVF AEVLPSHKVA KVQELQNKGK KVAMVGDGVN DSPALAQADM GVAIGTGTDV AIEAADVVLI RNDLLDVVAS IHLSKRTVRR IRINLVLALI YNLVGIPIAA GVFMPIGIVL QPWMGSAAMA ASSVSVVLSS LQLKCYKKPD LERYEAQAHG HMKPLTASQV SVHIGMDDRW RDSPRATPWD QVSYVSQVSL SSLTSDKPSR HSAAADDDGD KWSLLLNGRD EEQYI* | |||||||||||||||||||||
mutated AA sequence | N/A | |||||||||||||||||||||
speed | 0.47 s | |||||||||||||||||||||