Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999675579379412 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • 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 ENST00000299290
Genbank transcript ID NM_152710
UniProt peptide Q96M53
alteration type single base exchange
alteration region CDS
DNA changes c.710G>A
cDNA.1100G>A
g.10151G>A
AA changes R237Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 237
frameshift no
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 20
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      237DQELLVLELLCRILETDLLSAIQF
mutated  all conserved    237DQELLVLELLCQILE
Ptroglodytes  no homologue    
Mmulatta  all conserved  ENSMMUG00000012333  237DQELLVLELLCQILE
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000020096  283DQELLILELLCQILQTDSLRAIQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000067831  237GLELKVLELLCQILQTDSLSMVQ
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1056 / 1056
position (AA) of stopcodon in wt / mu AA sequence 352 / 352
position of stopcodon in wt / mu cDNA 1446 / 1446
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 391 / 391
chromosome 10
strand -1
last intron/exon boundary 1361
theoretical NMD boundary in CDS 920
length of CDS 1056
coding sequence (CDS) position 710
cDNA position
(for ins/del: last normal base / first normal base)		 1100
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 GGTCCTGGAGCTCCTGTGTCGGATCCTGGAAACAGACTTGC
altered cDNA sequence snippet GGTCCTGGAGCTCCTGTGTCAGATCCTGGAAACAGACTTGC
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 VLELLCRILE
TDLLSAIQFW LLYAPPKEKD LALGLLQTAV AQLLPQPLVS IPTEKLLSQL PEVHEPPQEK
QEPPCSQSPK KTKISPFTKS EKPEYIGEAQ VLQMHSSQNT EKKTSKPRAE S*
mutated 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 VLELLCQILE
TDLLSAIQFW LLYAPPKEKD LALGLLQTAV AQLLPQPLVS IPTEKLLSQL PEVHEPPQEK
QEPPCSQSPK KTKISPFTKS EKPEYIGEAQ VLQMHSSQNT EKKTSKPRAE S*
speed 0.33 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