Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999914066457892 (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) chr11:34378381G>CN/A show variant in all transcripts   IGV
HGNC symbol ABTB2
Ensembl transcript ID ENST00000435224
Genbank transcript ID NM_145804
UniProt peptide Q8N961
alteration type single base exchange
alteration region CDS
DNA changes c.750C>G
cDNA.1175C>G
g.1175C>G
AA changes H250Q Score: 24 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 250
frameshift no
known variant Reference ID: rs1925368
databasehomozygous (C/C)heterozygousallele carriers
1000G125646771
ExAC84581168961
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
Non-Gene Associated, Regulatory Feature, Non-Gene associated regulatory feature
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0671
1.4371
(flanking)1.6721
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained11710.80mu: GGCCAGCCAGAGCCC CCAG|ccag
distance from splice site 134
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      250VEEIRARVMASHSPDGGGAGGGEV
mutated  not conserved    250EIRARVMASQSPDGGGAGGGE
Ptroglodytes  not conserved  ENSPTRG00000003495  250EIRARVMASQSPDGGGAGGGE
Mmulatta  not conserved  ENSMMUG00000021647  64MASQSPDGGGAGGGE
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000032724  250EIRARVLASQSPDGGGAGGGE
Ggallus  no alignment  ENSGALG00000014376  n/a
Trubripes  all identical  ENSTRUG00000010317  250VEEIGSRVLMAERGHVGSESGSAGAP
Drerio  not conserved  ENSDARG00000062000  243EVGVRILMAERE--GATPGCV
Dmelanogaster  not conserved  FBgn0053291  508LEEIALQCNGT------------
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000003783  247EIRRRVLASQGNDGA-----E
protein features
start (aa)end (aa)featuredetails 
335364REPEATANK 1.might get lost (downstream of altered splice site)
381410REPEATANK 2.might get lost (downstream of altered splice site)
420449REPEATANK 3.might get lost (downstream of altered splice site)
463492REPEATANK 4.might get lost (downstream of altered splice site)
659728DOMAINBTB.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3078 / 3078
position (AA) of stopcodon in wt / mu AA sequence 1026 / 1026
position of stopcodon in wt / mu cDNA 3503 / 3503
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 426 / 426
chromosome 11
strand -1
last intron/exon boundary 3306
theoretical NMD boundary in CDS 2830
length of CDS 3078
coding sequence (CDS) position 750
cDNA position
(for ins/del: last normal base / first normal base)		 1175
gDNA position
(for ins/del: last normal base / first normal base)		 1175
chromosomal position
(for ins/del: last normal base / first normal base)		 34378381
original gDNA sequence snippet GCCAGGGTGATGGCCAGCCACAGCCCTGATGGCGGAGGGGC
altered gDNA sequence snippet GCCAGGGTGATGGCCAGCCAGAGCCCTGATGGCGGAGGGGC
original cDNA sequence snippet GCCAGGGTGATGGCCAGCCACAGCCCTGATGGCGGAGGGGC
altered cDNA sequence snippet GCCAGGGTGATGGCCAGCCAGAGCCCTGATGGCGGAGGGGC
wildtype AA sequence MAGTYSSTLK TLEDLTLDSG YGAGDSCRSL SLSSSKSNSQ ALNSSAQQHR GAAWWCYSGS
MNSRHNSWDT VNTVLPEDPE VADLFSRCPR LPELEEFPWT EGDVARVLRK GAGGRRLPQF
SAEAVRRLAG LLRRALIRVA REAQRLSVLH AKCTRFEVQS AVRLVHSWAL AESCALAAVK
ALSLYSMSAG DGLRRGKSAR CGLTFSVGRF FRWMVDTRIS VRIHEYAAIS LTACMENLVE
EIRARVMASH SPDGGGAGGG EVSAEALEMV INNDAELWGV LQPYEHLICG KNANGVLSLP
AYFSPYNGGS LGHDERADAY AQLELRTLEQ SLLATCVGSI SELSDLVSRA MHHMQGRHPL
CPGASPARQA RQPPQPITWS PDALHTLYYF LRCPQMESME NPNLDPPRMT LNNERPFMLL
PPLMEWMRVA ITYAEHRRSL TVDSGDIRQA ARLLLPGLDC EPRQLKPEHC FSSFRRLDAR
AATEKFNQDL GFRMLNCGRT DLINQAIEAL GPDGVNTMDD QGMTPLMYAC AAGDEAMVQM
LIDAGANLDI QVPSNSPRHP SIHPDSRHWT SLTFAVLHGH ISVVQLLLDA GAHVEGSAVN
GGEDSYAETP LQLASAAGNY ELVSLLLSRG ADPLLSMLEA HGMGSSLHED MNCFSHSAAH
GHRNVLRKLL TQPQQAKADV LSLEEILAEG VEESDASSQG SGSEGPVRLS RTRTKALQEA
MYYSAEHGYV DITMELRALG VPWKLHIWIE SLRTSFSQSR YSVVQSLLRD FSSIREEEYN
EELVTEGLQL MFDILKTSKN DSVIQQLATI FTHCYGSSPI PSIPEIRKTL PARLDPHFLN
NKEMSDVTFL VEGKLFYAHK VLLVTASNRF KTLMTNKSEQ DGDSSKTIEI SDMKYHIFQM
MMQYLYYGGT ESMEIPTTDI LELLSAASLF QLDALQRHCE ILCSQTLSME SAVNTYKYAK
IHNAPELALF CEGFFLKHMK ALLEQDAFRQ LIYGRSSKVQ GLDPLQDLQN TLAERVHSVY
ITSRV*
mutated AA sequence MAGTYSSTLK TLEDLTLDSG YGAGDSCRSL SLSSSKSNSQ ALNSSAQQHR GAAWWCYSGS
MNSRHNSWDT VNTVLPEDPE VADLFSRCPR LPELEEFPWT EGDVARVLRK GAGGRRLPQF
SAEAVRRLAG LLRRALIRVA REAQRLSVLH AKCTRFEVQS AVRLVHSWAL AESCALAAVK
ALSLYSMSAG DGLRRGKSAR CGLTFSVGRF FRWMVDTRIS VRIHEYAAIS LTACMENLVE
EIRARVMASQ SPDGGGAGGG EVSAEALEMV INNDAELWGV LQPYEHLICG KNANGVLSLP
AYFSPYNGGS LGHDERADAY AQLELRTLEQ SLLATCVGSI SELSDLVSRA MHHMQGRHPL
CPGASPARQA RQPPQPITWS PDALHTLYYF LRCPQMESME NPNLDPPRMT LNNERPFMLL
PPLMEWMRVA ITYAEHRRSL TVDSGDIRQA ARLLLPGLDC EPRQLKPEHC FSSFRRLDAR
AATEKFNQDL GFRMLNCGRT DLINQAIEAL GPDGVNTMDD QGMTPLMYAC AAGDEAMVQM
LIDAGANLDI QVPSNSPRHP SIHPDSRHWT SLTFAVLHGH ISVVQLLLDA GAHVEGSAVN
GGEDSYAETP LQLASAAGNY ELVSLLLSRG ADPLLSMLEA HGMGSSLHED MNCFSHSAAH
GHRNVLRKLL TQPQQAKADV LSLEEILAEG VEESDASSQG SGSEGPVRLS RTRTKALQEA
MYYSAEHGYV DITMELRALG VPWKLHIWIE SLRTSFSQSR YSVVQSLLRD FSSIREEEYN
EELVTEGLQL MFDILKTSKN DSVIQQLATI FTHCYGSSPI PSIPEIRKTL PARLDPHFLN
NKEMSDVTFL VEGKLFYAHK VLLVTASNRF KTLMTNKSEQ DGDSSKTIEI SDMKYHIFQM
MMQYLYYGGT ESMEIPTTDI LELLSAASLF QLDALQRHCE ILCSQTLSME SAVNTYKYAK
IHNAPELALF CEGFFLKHMK ALLEQDAFRQ LIYGRSSKVQ GLDPLQDLQN TLAERVHSVY
ITSRV*
speed 0.18 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