Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999994440379 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:187446211C>TN/A show variant in all transcripts   IGV
HGNC symbol BCL6
Ensembl transcript ID ENST00000232014
Genbank transcript ID N/A
UniProt peptide P41182
alteration type single base exchange
alteration region CDS
DNA changes c.1477G>A
cDNA.2006G>A
g.17305G>A
AA changes A493T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 493
frameshift no
known variant Reference ID: rs2229362
databasehomozygous (T/T)heterozygousallele carriers
1000G145637782
ExAC16851375015435
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.7740.08
-0.0720.002
(flanking)-1.6330
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased17308wt: 0.70 / mu: 0.80wt: AGATGTGCCTCCACACCGCTGGCCCCACGTTCCCTGAGGAG
mu: AGATGTGCCTCCACACCACTGGCCCCACGTTCCCTGAGGAG		 gctg|GCCC
Donor increased17310wt: 0.83 / mu: 0.93wt: GCTGGCCCCACGTTC
mu: ACTGGCCCCACGTTC		 TGGC|ccca
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      493SPQHAEMCLHTAGPTFPEEMGETQ
mutated  not conserved    493SPQHAEMCLHTTGPTFPEEMGET
Ptroglodytes  all identical  ENSPTRG00000015728  493SPQHAEMCLHTAGPTFPEEMGET
Mmulatta  all identical  ENSMMUG00000009198  493SPQHAEMCLHTAGPTFPEEMGET
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000022508  494SPQHTEMCLHTAGPTFPEEMGET
Ggallus  all conserved  ENSGALG00000007357  495SPQHTEMCLHTSGSAFGEEMGET
Trubripes  all conserved  ENSTRUG00000002214  494SSHHSEVCPKTSRSHLAEEMTEL
Drerio  all conserved  ENSDARG00000070864  505SPQHSDVCPNTSASRLAEEMSEM
Dmelanogaster  no alignment  FBgn0011236  n/a
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000019779  490PP--ELCPHTPGSNFGEEITET
protein features
start (aa)end (aa)featuredetails 
498498CONFLICTP -> A (in Ref. 2; AAC50054).might get lost (downstream of altered splice site)
518541ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
521523STRANDmight get lost (downstream of altered splice site)
527529STRANDmight get lost (downstream of altered splice site)
530540HELIXmight get lost (downstream of altered splice site)
546568ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
558568HELIXmight get lost (downstream of altered splice site)
573575STRANDmight get lost (downstream of altered splice site)
574596ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
577579TURNmight get lost (downstream of altered splice site)
582584STRANDmight get lost (downstream of altered splice site)
586596HELIXmight get lost (downstream of altered splice site)
601603STRANDmight get lost (downstream of altered splice site)
602624ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
605607TURNmight get lost (downstream of altered splice site)
610613STRANDmight get lost (downstream of altered splice site)
614620HELIXmight get lost (downstream of altered splice site)
622625HELIXmight get lost (downstream of altered splice site)
630652ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
633635STRANDmight get lost (downstream of altered splice site)
639641STRANDmight get lost (downstream of altered splice site)
642648HELIXmight get lost (downstream of altered splice site)
649652TURNmight get lost (downstream of altered splice site)
658681ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2121 / 2121
position (AA) of stopcodon in wt / mu AA sequence 707 / 707
position of stopcodon in wt / mu cDNA 2650 / 2650
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 530 / 530
chromosome 3
strand -1
last intron/exon boundary 2507
theoretical NMD boundary in CDS 1927
length of CDS 2121
coding sequence (CDS) position 1477
cDNA position
(for ins/del: last normal base / first normal base)		 2006
gDNA position
(for ins/del: last normal base / first normal base)		 17305
chromosomal position
(for ins/del: last normal base / first normal base)		 187446211
original gDNA sequence snippet CAGAGATGTGCCTCCACACCGCTGGCCCCACGTTCCCTGAG
altered gDNA sequence snippet CAGAGATGTGCCTCCACACCACTGGCCCCACGTTCCCTGAG
original cDNA sequence snippet CAGAGATGTGCCTCCACACCGCTGGCCCCACGTTCCCTGAG
altered cDNA sequence snippet CAGAGATGTGCCTCCACACCACTGGCCCCACGTTCCCTGAG
wildtype AA sequence MASPADSCIQ FTRHASDVLL NLNRLRSRDI LTDVVIVVSR EQFRAHKTVL MACSGLFYSI
FTDQLKCNLS VINLDPEINP EGFCILLDFM YTSRLNLREG NIMAVMATAM YLQMEHVVDT
CRKFIKASEA EMVSAIKPPR EEFLNSRMLM PQDIMAYRGR EVVENNLPLR SAPGCESRAF
APSLYSGLST PPASYSMYSH LPVSSLLFSD EEFRDVRMPV ANPFPKERAL PCDSARPVPG
EYSRPTLEVS PNVCHSNIYS PKETIPEEAR SDMHYSVAEG LKPAAPSARN APYFPCDKAS
KEEERPSSED EIALHFEPPN APLNRKGLVS PQSPQKSDCQ PNSPTESCSS KNACILQASG
SPPAKSPTDP KACNWKKYKF IVLNSLNQNA KPEGPEQAEL GRLSPRAYTA PPACQPPMEP
ENLDLQSPTK LSASGEDSTI PQASRLNNIV NRSMTGSPRS SSESHSPLYM HPPKCTSCGS
QSPQHAEMCL HTAGPTFPEE MGETQSEYSD SSCENGAFFC NECDCRFSEE ASLKRHTLQT
HSDKPYKCDR CQASFRYKGN LASHKTVHTG EKPYRCNICG AQFNRPANLK THTRIHSGEK
PYKCETCGAR FVQVAHLRAH VLIHTGEKPY PCEICGTRFR HLQTLKSHLR IHTGEKPYHC
EKCNLHFRHK SQLRLHLRQK HGAITNTKVQ YRVSATDLPP ELPKAC*
mutated AA sequence MASPADSCIQ FTRHASDVLL NLNRLRSRDI LTDVVIVVSR EQFRAHKTVL MACSGLFYSI
FTDQLKCNLS VINLDPEINP EGFCILLDFM YTSRLNLREG NIMAVMATAM YLQMEHVVDT
CRKFIKASEA EMVSAIKPPR EEFLNSRMLM PQDIMAYRGR EVVENNLPLR SAPGCESRAF
APSLYSGLST PPASYSMYSH LPVSSLLFSD EEFRDVRMPV ANPFPKERAL PCDSARPVPG
EYSRPTLEVS PNVCHSNIYS PKETIPEEAR SDMHYSVAEG LKPAAPSARN APYFPCDKAS
KEEERPSSED EIALHFEPPN APLNRKGLVS PQSPQKSDCQ PNSPTESCSS KNACILQASG
SPPAKSPTDP KACNWKKYKF IVLNSLNQNA KPEGPEQAEL GRLSPRAYTA PPACQPPMEP
ENLDLQSPTK LSASGEDSTI PQASRLNNIV NRSMTGSPRS SSESHSPLYM HPPKCTSCGS
QSPQHAEMCL HTTGPTFPEE MGETQSEYSD SSCENGAFFC NECDCRFSEE ASLKRHTLQT
HSDKPYKCDR CQASFRYKGN LASHKTVHTG EKPYRCNICG AQFNRPANLK THTRIHSGEK
PYKCETCGAR FVQVAHLRAH VLIHTGEKPY PCEICGTRFR HLQTLKSHLR IHTGEKPYHC
EKCNLHFRHK SQLRLHLRQK HGAITNTKVQ YRVSATDLPP ELPKAC*
speed 0.74 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