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 ENST00000298992
Genbank transcript ID N/A
UniProt peptide Q8N961
alteration type single base exchange
alteration region CDS
DNA changes c.192C>G
cDNA.422C>G
g.1175C>G
AA changes H64Q Score: 24 explain score(s)
position(s) of altered AA
if AA alteration in CDS
64
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      64VEEIRARVMASHSPDGGGAGGGEV
mutated  not conserved    64MASQSPDGGGAGGGE
Ptroglodytes  not conserved  ENSPTRG00000003495  250MASQSPDGGGAGGGE
Mmulatta  not conserved  ENSMMUG00000021647  64MASQSPDGGGAGGGE
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000032724  250LASQSPDGGGAGGGE
Ggallus  no alignment  ENSGALG00000014376  n/a
Trubripes  all identical  ENSTRUG00000010317  250LMAERGHVGSESGSAGAP
Drerio  not conserved  ENSDARG00000062000  243LMAERE--GATPGCV
Dmelanogaster  not conserved  FBgn0053291  508LEEIALQCNGT---
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000003783  247LASQGNDGA-----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 2520 / 2520
position (AA) of stopcodon in wt / mu AA sequence 840 / 840
position of stopcodon in wt / mu cDNA 2750 / 2750
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 231 / 231
chromosome 11
strand -1
last intron/exon boundary 2553
theoretical NMD boundary in CDS 2272
length of CDS 2520
coding sequence (CDS) position 192
cDNA position
(for ins/del: last normal base / first normal base)
422
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 MSAGDGLRRG KSARCGLTFS VGRFFRWMVD TRISVRIHEY AAISLTACME NLVEEIRARV
MASHSPDGGG AGGGEVSAEA LEMVINNDAE LWGVLQPYEH LICGKNANGV LSLPAYFSPY
NGGSLGHDER ADAYAQLELR TLEQSLLATC VGSISELSDL VSRAMHHMQG RHPLCPGASP
ARQARQPPQP ITWSPDALHT LYYFLRCPQM ESMENPNLDP PRMTLNNERP FMLLPPLMEW
MRVAITYAEH RRSLTVDSGD IRQAARLLLP GLDCEPRQLK PEHCFSSFRR LDARAATEKF
NQDLGFRMLN CGRTDLINQA IEALGPDGVN TMDDQGMTPL MYACAAGDEA MVQMLIDAGA
NLDIQVPSNS PRHPSIHPDS RHWTSLTFAV LHGHISVVQL LLDAGAHVEG SAVNGGEDSY
AETPLQLASA AGNYELVSLL LSRGADPLLS MLEAHGMGSS LHEDMNCFSH SAAHGHRNVL
RKLLTQPQQA KADVLSLEEI LAEGVEESDA SSQGSGSEGP VRLSRTRTKA LQEAMYYSAE
HGYVDITMEL RALGVPWKLH IWIESLRTSF SQSRYSVVQS LLRDFSSIRE EEYNEELVTE
GLQLMFDILK TSKNDSVIQQ LATIFTHCYG SSPIPSIPEI RKTLPARLDP HFLNNKEMSD
VTFLVEGKLF YAHKVLLVTA SNRFKTLMTN KSEQDGDSSK TIEISDMKYH IFQMMMQYLY
YGGTESMEIP TTDILELLSA ASLFQLDALQ RHCEILCSQT LSMESAVNTY KYAKIHNAPE
LALFCEGFFL KHMKALLEQD AFRQLIYGRS SKVQGLDPLQ DLQNTLAERV HSVYITSRV*
mutated AA sequence MSAGDGLRRG KSARCGLTFS VGRFFRWMVD TRISVRIHEY AAISLTACME NLVEEIRARV
MASQSPDGGG AGGGEVSAEA LEMVINNDAE LWGVLQPYEH LICGKNANGV LSLPAYFSPY
NGGSLGHDER ADAYAQLELR TLEQSLLATC VGSISELSDL VSRAMHHMQG RHPLCPGASP
ARQARQPPQP ITWSPDALHT LYYFLRCPQM ESMENPNLDP PRMTLNNERP FMLLPPLMEW
MRVAITYAEH RRSLTVDSGD IRQAARLLLP GLDCEPRQLK PEHCFSSFRR LDARAATEKF
NQDLGFRMLN CGRTDLINQA IEALGPDGVN TMDDQGMTPL MYACAAGDEA MVQMLIDAGA
NLDIQVPSNS PRHPSIHPDS RHWTSLTFAV LHGHISVVQL LLDAGAHVEG SAVNGGEDSY
AETPLQLASA AGNYELVSLL LSRGADPLLS MLEAHGMGSS LHEDMNCFSH SAAHGHRNVL
RKLLTQPQQA KADVLSLEEI LAEGVEESDA SSQGSGSEGP VRLSRTRTKA LQEAMYYSAE
HGYVDITMEL RALGVPWKLH IWIESLRTSF SQSRYSVVQS LLRDFSSIRE EEYNEELVTE
GLQLMFDILK TSKNDSVIQQ LATIFTHCYG SSPIPSIPEI RKTLPARLDP HFLNNKEMSD
VTFLVEGKLF YAHKVLLVTA SNRFKTLMTN KSEQDGDSSK TIEISDMKYH IFQMMMQYLY
YGGTESMEIP TTDILELLSA ASLFQLDALQ RHCEILCSQT LSMESAVNTY KYAKIHNAPE
LALFCEGFFL KHMKALLEQD AFRQLIYGRS SKVQGLDPLQ DLQNTLAERV HSVYITSRV*
speed 0.31 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