mutation t@sting |
documentation |
Prediction |
disease causing |
Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain) | ||||||||||||
Summary |
|
hyperlink | ||||||||||||
analysed issue | analysis result | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
name of alteration | no title | |||||||||||||
alteration (phys. location) | chr13:52532509C>TN/A show variant in all transcripts IGV | |||||||||||||
HGNC symbol | ATP7B | |||||||||||||
Ensembl transcript ID | ENST00000542656 | |||||||||||||
Genbank transcript ID | N/A | |||||||||||||
UniProt peptide | N/A | |||||||||||||
alteration type | single base exchange | |||||||||||||
alteration region | 3'UTR | |||||||||||||
DNA changes | cDNA.1664G>A g.53122G>A | |||||||||||||
AA changes | N/A | |||||||||||||
position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||
frameshift | N/A | |||||||||||||
known variant | Reference ID: rs28942075
Allele 'T' was neither found in ExAC nor 1000G. known disease mutation: rs3855 (pathogenic for Wilson disease) dbSNP NCBI variation viewer known disease mutation at this position, please check HGMD for details (HGMD ID CM950110) known disease mutation at this position, please check HGMD for details (HGMD ID CM950110) known disease mutation at this position, please check HGMD for details (HGMD ID CM123054) known disease mutation at this position, please check HGMD for details (HGMD ID CM950110) known disease mutation at this position, please check HGMD for details (HGMD ID CM123054) known disease mutation at this position, please check HGMD for details (HGMD ID CM950110) | |||||||||||||
regulatory features | H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation | |||||||||||||
phyloP / phastCons |
| |||||||||||||
splice sites | no abrogation of potential splice sites | |||||||||||||
distance from splice site | 10 | |||||||||||||
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 | signal is predicted to be ok | |||||||||||||
conservation nucleotide level for all changes - no scoring up to now | N/A | |||||||||||||
position of start ATG in wt / mu cDNA | 46 / 46 | |||||||||||||
chromosome | 13 | |||||||||||||
strand | -1 | |||||||||||||
last intron/exon boundary | 1493 | |||||||||||||
theoretical NMD boundary in CDS | 1397 | |||||||||||||
length of CDS | 1587 | |||||||||||||
coding sequence (CDS) position | N/A | |||||||||||||
cDNA position (for ins/del: last normal base / first normal base) | 1664 | |||||||||||||
gDNA position (for ins/del: last normal base / first normal base) | 53122 | |||||||||||||
chromosomal position (for ins/del: last normal base / first normal base) | 52532509 | |||||||||||||
original gDNA sequence snippet | GGAGCCCTGTGACATTCTTCGACACGCCCCCCATGCTCTTT | |||||||||||||
altered gDNA sequence snippet | GGAGCCCTGTGACATTCTTCAACACGCCCCCCATGCTCTTT | |||||||||||||
original cDNA sequence snippet | GGAGCCCTGTGACATTCTTCGACACGCCCC | |||||||||||||
altered cDNA sequence snippet | GGAGCCCTGTGACATTCTTCAACACGCCCC | |||||||||||||
wildtype AA sequence | MKKSFAFDNV GYEGGLDGLG PSSQVATSTV RILGMTCQSC VKSIEDRISN LKGIISMKVS LEQGSATVKY VPSVVCLQQV CHQIGDMGFE ASIAEGKAAS WPSRSLPAQE AVVKLRVEGM TCQSCVSSIE GKVRKLQGVV RVKVSLSNQE AVITYQPYLI QPEDLRDHVN DMGFEAAIKS KVAPLSLGPI DIERLQSTNP KRPLSSANQN FNNSETLGHQ GSHVVTLQLR IDGMHCKSCV LNIEENIGQL LGVQSIQVSL ENKTAQVKYD PSCTSPVALQ RAIEALPPGN FKVSLPDGAE GSGTDHRSSS SHSPGSPPRN QVQGTCSTTL IAIAGMTCAS CVHSIEGMIS QLEGVQQISV SLAEGTATVL YNPSVISPEE LRAAIEDMGF EASVVSESCS TNPLGNHSAG NSMVQTTDGT PTSVQEVAPH TGRLPANHAP DILAKSPQST RAVAPQKCFL QIKGMTCASC VSNIERNLQK EAAPRWVVLL RSGLQISETQ VSQHGRAHRP GHKHCLCLFS GHPGGCCG* | |||||||||||||
mutated AA sequence | N/A | |||||||||||||
speed | 0.19 s | |||||||||||||