Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 6.48016442681246e-15 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:72535007C>TN/A show variant in all transcripts   IGV
HGNC symbol TBATA
Ensembl transcript ID ENST00000456372
Genbank transcript ID N/A
UniProt peptide Q96M53
alteration type single base exchange
alteration region intron
DNA changes g.10151G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2254174
databasehomozygous (T/T)heterozygousallele carriers
1000G15058542359
ExAC---
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2630.997
1.4230.997
(flanking)3.2050.992
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased10151wt: 0.45 / mu: 0.51wt: GGTCCTGGAGCTCCTGTGTCGGATCCTGGAAACAGACTTGC
mu: GGTCCTGGAGCTCCTGTGTCAGATCCTGGAAACAGACTTGC		 gtcg|GATC
Donor gained101470.31mu: TCCTGTGTCAGATCC CTGT|gtca
distance from splice site 894
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features no protein features affected
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 1 / 1
chromosome 10
strand -1
last intron/exon boundary 691
theoretical NMD boundary in CDS 640
length of CDS 753
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 10151
chromosomal position
(for ins/del: last normal base / first normal base)		 72535007
original gDNA sequence snippet GGTCCTGGAGCTCCTGTGTCGGATCCTGGAAACAGACTTGC
altered gDNA sequence snippet GGTCCTGGAGCTCCTGTGTCAGATCCTGGAAACAGACTTGC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MATDVQLADY PLMSPKAELK LEKKSGRKPR SPRDSGPQKE LVIPGIVDFE RIRRALRTPK
PQTPGTYCFG RLSHHSFFSR HHPHPQHVTH IQDLTGKPVC VVRDFPAPLP ESTVFSGCQM
GIPTISVPIG DPQSNRNPQL SSEAWKKELK ELASRVAFLT KEDELKKKEK EQKEEPLREQ
GAKYSAETGR LIPASTRAVG RRRSHQGQQS QSSSRHEGVQ AFLLQDQELL KKTSLWDSCR
QQWLSSFPSP *
mutated AA sequence N/A
speed 0.46 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