mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 0.999989844050651 (classification due to TGP/ExAC, real probability is shown anyway) (explain) | ||||||||||||
Summary |
|
hyperlink | ||||||||||||
analysed issue | analysis result | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
name of alteration | no title | |||||||||||||
alteration (phys. location) | chr17:41244435T>CN/A show variant in all transcripts IGV | |||||||||||||
HGNC symbol | BRCA1 | |||||||||||||
Ensembl transcript ID | ENST00000351666 | |||||||||||||
Genbank transcript ID | N/A | |||||||||||||
UniProt peptide | N/A | |||||||||||||
alteration type | single base exchange | |||||||||||||
alteration region | intron | |||||||||||||
DNA changes | g.77856A>G | |||||||||||||
AA changes | N/A | |||||||||||||
position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||
frameshift | N/A | |||||||||||||
known variant | Reference ID: rs16941
known disease mutation at this position, please check HGMD for details (HGMD ID CM032861) | |||||||||||||
regulatory features | H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation | |||||||||||||
phyloP / phastCons |
| |||||||||||||
splice sites |
| |||||||||||||
distance from splice site | 1386 | |||||||||||||
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 | 20 / 20 | |||||||||||||
chromosome | 17 | |||||||||||||
strand | -1 | |||||||||||||
last intron/exon boundary | 1938 | |||||||||||||
theoretical NMD boundary in CDS | 1868 | |||||||||||||
length of CDS | 2043 | |||||||||||||
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) | 77856 | |||||||||||||
chromosomal position (for ins/del: last normal base / first normal base) | 41244435 | |||||||||||||
original gDNA sequence snippet | TAGAGAAAATGTTTTTAAAGAAGCCAGCTCAAGCAATATTA | |||||||||||||
altered gDNA sequence snippet | TAGAGAAAATGTTTTTAAAGGAGCCAGCTCAAGCAATATTA | |||||||||||||
original cDNA sequence snippet | N/A | |||||||||||||
altered cDNA sequence snippet | N/A | |||||||||||||
wildtype AA sequence | MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI ELGEAASGCE SETSVSEDCS GLSSQSDILT TQQRDTMQHN LIKLQQEMAE LEAVLEQHGS QPSNSYPSII SDSSALEDLR NPEQSTSEKA VLTSQKSSEY PISQNPEGLS ADKFEVSADS STSKNKEPGV ERSSPSKCPS LDDRWYMHSC SGSLQNRNYP SQEELIKVVD VEEQQLEESG PHDLTETSYL PRQDLEGTPY LESGISLFSD DPESDPSEDR APESARVGNI PSSTSALKVP QLKVAESAQS PAAAHTTDTA GYNAMEESVS REKPELTAST ERVNKRMSMV VSGLTPEEFM LVYKFARKHH ITLTNLITEE TTHVVMKTDA EFVCERTLKY FLGIAGGKWV VSYFWVTQSI KERKMLNEHD FEVRGDVVNG RNHQGPKRAR ESQDRKIFRG LEICCYGPFT NMPTDQLEWM VQLCGASVVK ELSSFTLGTG VHPIVVVQPD AWTEDNGFHA IGQMCEAPVV TREWVLDSVA LYQCQELDTY LIPQIPHSHY * | |||||||||||||
mutated AA sequence | N/A | |||||||||||||
speed | 0.87 s | |||||||||||||