Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999530189733954      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM042945)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:40504844C>TN/A show variant in all transcripts   IGV
HGNC symbol BUB1B
Ensembl transcript ID ENST00000287598
Genbank transcript ID NM_001211
UniProt peptide O60566
alteration type single base exchange
alteration region CDS
DNA changes c.2530C>T
cDNA.2725C>T
g.51621C>T
AA changes L844F Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 844
frameshift no
known variant Reference ID: rs28989181
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known disease mutation at this position, please check HGMD for details (HGMD ID CM042945)

known disease mutation at this position, please check HGMD for details (HGMD ID CM042945)
known disease mutation at this position, please check HGMD for details (HGMD ID CM042945)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4040.947
1.5150.993
(flanking)3.3860.997
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased51626wt: 0.9268 / mu: 0.9513 (marginal change - not scored)wt: ATAAACTGCTTCACCCTTCAGGTCTGTAATACTAAAAACAT
mu: ATAAACTGCTTCACCTTTCAGGTCTGTAATACTAAAAACAT		 tcag|GTCT
Acc increased51624wt: 0.28 / mu: 0.41wt: ATATAAACTGCTTCACCCTTCAGGTCTGTAATACTAAAAAC
mu: ATATAAACTGCTTCACCTTTCAGGTCTGTAATACTAAAAAC		 cttc|AGGT
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      844IVWHQYINCFTLQDLLQHSEYITH
mutated  not conserved    844CFTFQDLLQHSEYIT
Ptroglodytes  all identical  ENSPTRG00000006913  844CFTLQDLLQHSEYIT
Mmulatta  all identical  ENSMMUG00000016686  842QYINCFTLQDLLQHSEYIT
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000040084  833VVWYQYINCSTLQNLLQ
Ggallus  all identical  ENSGALG00000004838  880AILHKNINRFTLGDVICG
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000074927  n/a
Dmelanogaster  all identical  FBgn0025458  1251LVGNNSSVYISEFSDYGSLIGVCNKVKSVT
Celegans  all identical  R06C7.8  767LLVNQYHEYGTLLEYANNMKDPN
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
7661050DOMAINProtein kinase.lost
882882ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
10081008MOD_RESPhosphothreonine; by PLK1.might get lost (downstream of altered splice site)
10181018CONFLICTE -> K (in Ref. 3; AAC33435).might get lost (downstream of altered splice site)
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 3153 / 3153
position (AA) of stopcodon in wt / mu AA sequence 1051 / 1051
position of stopcodon in wt / mu cDNA 3348 / 3348
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 196 / 196
chromosome 15
strand 1
last intron/exon boundary 3153
theoretical NMD boundary in CDS 2907
length of CDS 3153
coding sequence (CDS) position 2530
cDNA position
(for ins/del: last normal base / first normal base)		 2725
gDNA position
(for ins/del: last normal base / first normal base)		 51621
chromosomal position
(for ins/del: last normal base / first normal base)		 40504844
original gDNA sequence snippet AATATATAAACTGCTTCACCCTTCAGGTCTGTAATACTAAA
altered gDNA sequence snippet AATATATAAACTGCTTCACCTTTCAGGTCTGTAATACTAAA
original cDNA sequence snippet AATATATAAACTGCTTCACCCTTCAGGATCTTCTCCAACAC
altered cDNA sequence snippet AATATATAAACTGCTTCACCTTTCAGGATCTTCTCCAACAC
wildtype AA sequence MAAVKKEGGA LSEAMSLEGD EWELSKENVQ PLRQGRIMST LQGALAQESA CNNTLQQQKR
AFEYEIRFYT GNDPLDVWDR YISWTEQNYP QGGKESNMST LLERAVEALQ GEKRYYSDPR
FLNLWLKLGR LCNEPLDMYS YLHNQGIGVS LAQFYISWAE EYEARENFRK ADAIFQEGIQ
QKAEPLERLQ SQHRQFQARV SRQTLLALEK EEEEEVFESS VPQRSTLAEL KSKGKKTARA
PIIRVGGALK APSQNRGLQN PFPQQMQNNS RITVFDENAD EASTAELSKP TVQPWIAPPM
PRAKENELQA GPWNTGRSLE HRPRGNTASL IAVPAVLPSF TPYVEETARQ PVMTPCKIEP
SINHILSTRK PGKEEGDPLQ RVQSHQQASE EKKEKMMYCK EKIYAGVGEF SFEEIRAEVF
RKKLKEQREA ELLTSAEKRA EMQKQIEEME KKLKEIQTTQ QERTGDQQEE TMPTKETTKL
QIASESQKIP GMTLSSSVCQ VNCCARETSL AENIWQEQPH SKGPSVPFSI FDEFLLSEKK
NKSPPADPPR VLAQRRPLAV LKTSESITSN EDVSPDVCDE FTGIEPLSED AIITGFRNVT
ICPNPEDTCD FARAARFVST PFHEIMSLKD LPSDPERLLP EEDLDVKTSE DQQTACGTIY
SQTLSIKKLS PIIEDSREAT HSSGFSGSSA SVASTSSIKC LQIPEKLELT NETSENPTQS
PWCSQYRRQL LKSLPELSAS AELCIEDRPM PKLEIEKEIE LGNEDYCIKR EYLICEDYKL
FWVAPRNSAE LTVIKVSSQP VPWDFYINLK LKERLNEDFD HFCSCYQYQD GCIVWHQYIN
CFTLQDLLQH SEYITHEITV LIIYNLLTIV EMLHKAEIVH GDLSPRCLIL RNRIHDPYDC
NKNNQALKIV DFSYSVDLRV QLDVFTLSGF RTVQILEGQK ILANCSSPYQ VDLFGIADLA
HLLLFKEHLQ VFWDGSFWKL SQNISELKDG ELWNKFFVRI LNANDEATVS VLGELAAEMN
GVFDTTFQSH LNKALWKVGK LTSPGALLFQ *
mutated AA sequence MAAVKKEGGA LSEAMSLEGD EWELSKENVQ PLRQGRIMST LQGALAQESA CNNTLQQQKR
AFEYEIRFYT GNDPLDVWDR YISWTEQNYP QGGKESNMST LLERAVEALQ GEKRYYSDPR
FLNLWLKLGR LCNEPLDMYS YLHNQGIGVS LAQFYISWAE EYEARENFRK ADAIFQEGIQ
QKAEPLERLQ SQHRQFQARV SRQTLLALEK EEEEEVFESS VPQRSTLAEL KSKGKKTARA
PIIRVGGALK APSQNRGLQN PFPQQMQNNS RITVFDENAD EASTAELSKP TVQPWIAPPM
PRAKENELQA GPWNTGRSLE HRPRGNTASL IAVPAVLPSF TPYVEETARQ PVMTPCKIEP
SINHILSTRK PGKEEGDPLQ RVQSHQQASE EKKEKMMYCK EKIYAGVGEF SFEEIRAEVF
RKKLKEQREA ELLTSAEKRA EMQKQIEEME KKLKEIQTTQ QERTGDQQEE TMPTKETTKL
QIASESQKIP GMTLSSSVCQ VNCCARETSL AENIWQEQPH SKGPSVPFSI FDEFLLSEKK
NKSPPADPPR VLAQRRPLAV LKTSESITSN EDVSPDVCDE FTGIEPLSED AIITGFRNVT
ICPNPEDTCD FARAARFVST PFHEIMSLKD LPSDPERLLP EEDLDVKTSE DQQTACGTIY
SQTLSIKKLS PIIEDSREAT HSSGFSGSSA SVASTSSIKC LQIPEKLELT NETSENPTQS
PWCSQYRRQL LKSLPELSAS AELCIEDRPM PKLEIEKEIE LGNEDYCIKR EYLICEDYKL
FWVAPRNSAE LTVIKVSSQP VPWDFYINLK LKERLNEDFD HFCSCYQYQD GCIVWHQYIN
CFTFQDLLQH SEYITHEITV LIIYNLLTIV EMLHKAEIVH GDLSPRCLIL RNRIHDPYDC
NKNNQALKIV DFSYSVDLRV QLDVFTLSGF RTVQILEGQK ILANCSSPYQ VDLFGIADLA
HLLLFKEHLQ VFWDGSFWKL SQNISELKDG ELWNKFFVRI LNANDEATVS VLGELAAEMN
GVFDTTFQSH LNKALWKVGK LTSPGALLFQ *
speed 0.17 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