Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999994568357073 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr4:4304605G>AN/A show variant in all transcripts   IGV
HGNC symbol ZBTB49
Ensembl transcript ID ENST00000538529
Genbank transcript ID N/A
UniProt peptide Q6ZSB9
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.1163G>A
g.12682G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs4689254
databasehomozygous (A/A)heterozygousallele carriers
1000G95565660
ExAC81764237240
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4040
0.0380
(flanking)1.1210.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -131) | splice site change before start ATG (at aa -130) | splice site change before start ATG (at aa -128) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor increased12685wt: 0.20 / mu: 0.38wt: AAGCTAGCAGCCAAA
mu: AAACTAGCAGCCAAA		 GCTA|gcag
Donor increased12677wt: 0.75 / mu: 1.00wt: CCTAGAGAAAGCTAG
mu: CCTAGAGAAAACTAG		 TAGA|gaaa
Donor gained126800.40mu: AGAGAAAACTAGCAG AGAA|aact
distance from splice site 214
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
2591DOMAINBTB.might get lost (downstream of altered splice site)
395417ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
423445ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
449449CONFLICTK -> E (in Ref. 1; BAC87035).might get lost (downstream of altered splice site)
451473ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
479501ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
506506CONFLICTV -> I (in Ref. 1; BAC87035).might get lost (downstream of altered splice site)
507529ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
535557ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
563585ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
652652MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 1552 / 1552
chromosome 4
strand 1
last intron/exon boundary 1622
theoretical NMD boundary in CDS 20
length of CDS 747
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 1163
gDNA position
(for ins/del: last normal base / first normal base)		 12682
chromosomal position
(for ins/del: last normal base / first normal base)		 4304605
original gDNA sequence snippet GTAAAAATACCCTAGAGAAAGCTAGCAGCCAAAGTGCTGAA
altered gDNA sequence snippet GTAAAAATACCCTAGAGAAAACTAGCAGCCAAAGTGCTGAA
original cDNA sequence snippet GTAAAAATACCCTAGAGAAAGCTAGCAGCCAAAGTGCTGAA
altered cDNA sequence snippet GTAAAAATACCCTAGAGAAAACTAGCAGCCAAAGTGCTGAA
wildtype AA sequence MQRKLVKHRI RHTGERPYSC SACGKCFGGS GDLRRHVRTH TGEKPYTCEI CNKCFTRSAV
LRRHKKMHCK AGDESPDVLE ELSQAIETSD LEKSQSSDSF SQDTSVTLMP VSVKLPVHPV
ENSVAEFDSH SGGSYCKLRS MIQPHGVSDQ EKLSLDPGKL AKPQMQQTQP QAYAYSDVDT
PAGGEPLQAD GMAMIRSSLA ALDNHGGDPL GSRASSTTYR NSEGQFFSSM TLWGLAMKTL
QNENELDQ*
mutated AA sequence N/A
speed 0.67 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