Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999990325385      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM042948)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:40512842T>CN/A show variant in all transcripts   IGV
HGNC symbol BUB1B
Ensembl transcript ID ENST00000412359
Genbank transcript ID N/A
UniProt peptide O60566
alteration type single base exchange
alteration region CDS
DNA changes c.3077T>C
cDNA.3231T>C
g.59619T>C
AA changes L1026P Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1026
frameshift no
known variant Reference ID: rs28989185
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC022

known disease mutation at this position, please check HGMD for details (HGMD ID CM042948)

known disease mutation at this position, please check HGMD for details (HGMD ID CM042948)
known disease mutation at this position, please check HGMD for details (HGMD ID CM042948)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.5131
3.4091
(flanking)0.5840.996
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased59620wt: 0.86 / mu: 0.97wt: GTTCTTGGGGAGCTT
mu: GTTCCTGGGGAGCTT		 TCTT|gggg
distance from splice site 78
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1026LNANDEATVSVLGELAAEMNGVFD
mutated  not conserved    1026ATVSVPGELAAEMNGVF
Ptroglodytes  all identical  ENSPTRG00000006913  1012ATVSVLGELAAEMNGVF
Mmulatta  all identical  ENSMMUG00000016686  1010ANDEATVSVLRELAAEMNGVF
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000040084  1002LNASDKSTVSVLGE
Ggallus  all identical  ENSGALG00000004838  1052LNADGKSTVLLLRELR
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000074927  n/a
Dmelanogaster  all identical  FBgn0025458  1429LNIRDCRTMPNLQQLRTQL
Celegans  no alignment  R06C7.8  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
7661050DOMAINProtein kinase.lost
10431043MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3195 / 3195
position (AA) of stopcodon in wt / mu AA sequence 1065 / 1065
position of stopcodon in wt / mu cDNA 3349 / 3349
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 155 / 155
chromosome 15
strand 1
last intron/exon boundary 3154
theoretical NMD boundary in CDS 2949
length of CDS 3195
coding sequence (CDS) position 3077
cDNA position
(for ins/del: last normal base / first normal base)		 3231
gDNA position
(for ins/del: last normal base / first normal base)		 59619
chromosomal position
(for ins/del: last normal base / first normal base)		 40512842
original gDNA sequence snippet TGAGGCCACAGTGTCTGTTCTTGGGGAGCTTGCAGCAGAAA
altered gDNA sequence snippet TGAGGCCACAGTGTCTGTTCCTGGGGAGCTTGCAGCAGAAA
original cDNA sequence snippet TGAGGCCACAGTGTCTGTTCTTGGGGAGCTTGCAGCAGAAA
altered cDNA sequence snippet TGAGGCCACAGTGTCTGTTCCTGGGGAGCTTGCAGCAGAAA
wildtype AA sequence MAAVKKEGGA LSEAMSLEGD EWELSKENVQ PLRQGRIMST LQGALAQESA CNNTLQQQKR
AFEYEIRFYT GNDPLDVWDR WVFLFHKDNR NINRYISWTE QNYPQGGKES NMSTLLERAV
EALQGEKRYY SDPRFLNLWL KLGRLCNEPL DMYSYLHNQG IGVSLAQFYI SWAEEYEARE
NFRKADAIFQ EGIQQKAEPL ERLQSQHRQF QARVSRQTLL ALEKEEEEEV FESSVPQRST
LAELKSKGKK TARAPIIRVG GALKAPSQNR GLQNPFPQQM QNNSRITVFD ENADEASTAE
LSKPTVQPWI APPMPRAKEN ELQAGPWNTG RSLEHRPRGN TASLIAVPAV LPSFTPYVEE
TARQPVMTPC KIEPSINHIL STRKPGKEEG DPLQRVQSHQ QASEEKKEKM MYCKEKIYAG
VGEFSFEEIR AEVFRKKLKE QREAELLTSA EKRAEMQKQI EEMEKKLKEI QTTQQERTGD
QQEETMPTKE TTKLQIASES QKIPGMTLSS SVCQVNCCAR ETSLAENIWQ EQPHSKGPSV
PFSIFDEFLL SEKKNKSPPA DPPRVLAQRR PLAVLKTSES ITSNEDVSPD VCDEFTGIEP
LSEDAIITGF RNVTICPNPE DTCDFARAAR FVSTPFHEIM SLKDLPSDPE RLLPEEDLDV
KTSEDQQTAC GTIYSQTLSI KKLSPIIEDS REATHSSGFS GSSASVASTS SIKCLQIPEK
LELTNETSEN PTQSPWCSQY RRQLLKSLPE LSASAELCIE DRPMPKLEIE KEIELGNEDY
CIKREYLICE DYKLFWVAPR NSAELTVIKV SSQPVPWDFY INLKLKERLN EDFDHFCSCY
QYQDGCIVWH QYINCFTLQD LLQHSEYITH EITVLIIYNL LTIVEMLHKA EIVHGDLSPR
CLILRNRIHD PYDCNKNNQA LKIVDFSYSV DLRVQLDVFT LSGFRTVQIL EGQKILANCS
SPYQVDLFGI ADLAHLLLFK EHLQVFWDGS FWKLSQNISE LKDGELWNKF FVRILNANDE
ATVSVLGELA AEMNGVFDTT FQSHLNKALW KVGKLTSPGA LLFQ*
mutated AA sequence MAAVKKEGGA LSEAMSLEGD EWELSKENVQ PLRQGRIMST LQGALAQESA CNNTLQQQKR
AFEYEIRFYT GNDPLDVWDR WVFLFHKDNR NINRYISWTE QNYPQGGKES NMSTLLERAV
EALQGEKRYY SDPRFLNLWL KLGRLCNEPL DMYSYLHNQG IGVSLAQFYI SWAEEYEARE
NFRKADAIFQ EGIQQKAEPL ERLQSQHRQF QARVSRQTLL ALEKEEEEEV FESSVPQRST
LAELKSKGKK TARAPIIRVG GALKAPSQNR GLQNPFPQQM QNNSRITVFD ENADEASTAE
LSKPTVQPWI APPMPRAKEN ELQAGPWNTG RSLEHRPRGN TASLIAVPAV LPSFTPYVEE
TARQPVMTPC KIEPSINHIL STRKPGKEEG DPLQRVQSHQ QASEEKKEKM MYCKEKIYAG
VGEFSFEEIR AEVFRKKLKE QREAELLTSA EKRAEMQKQI EEMEKKLKEI QTTQQERTGD
QQEETMPTKE TTKLQIASES QKIPGMTLSS SVCQVNCCAR ETSLAENIWQ EQPHSKGPSV
PFSIFDEFLL SEKKNKSPPA DPPRVLAQRR PLAVLKTSES ITSNEDVSPD VCDEFTGIEP
LSEDAIITGF RNVTICPNPE DTCDFARAAR FVSTPFHEIM SLKDLPSDPE RLLPEEDLDV
KTSEDQQTAC GTIYSQTLSI KKLSPIIEDS REATHSSGFS GSSASVASTS SIKCLQIPEK
LELTNETSEN PTQSPWCSQY RRQLLKSLPE LSASAELCIE DRPMPKLEIE KEIELGNEDY
CIKREYLICE DYKLFWVAPR NSAELTVIKV SSQPVPWDFY INLKLKERLN EDFDHFCSCY
QYQDGCIVWH QYINCFTLQD LLQHSEYITH EITVLIIYNL LTIVEMLHKA EIVHGDLSPR
CLILRNRIHD PYDCNKNNQA LKIVDFSYSV DLRVQLDVFT LSGFRTVQIL EGQKILANCS
SPYQVDLFGI ADLAHLLLFK EHLQVFWDGS FWKLSQNISE LKDGELWNKF FVRILNANDE
ATVSVPGELA AEMNGVFDTT FQSHLNKALW KVGKLTSPGA LLFQ*
speed 0.64 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project