Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.99999980842214 (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) chr3:135720851G>TN/A show variant in all transcripts   IGV
HGNC symbol PPP2R3A
Ensembl transcript ID ENST00000490467
Genbank transcript ID NM_001190447
UniProt peptide Q06190
alteration type single base exchange
alteration region intron
DNA changes g.36337G>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs6779903
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC57982117126969
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5580.067
0.1060.011
(flanking)0.5080.006
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -70) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor increased36330wt: 0.88 / mu: 0.97wt: AACGATGGGAACGCC
mu: AACGATGGGAACTCC		 CGAT|ggga
distance from splice site 24823
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
670695COMPBIASPro-rich.might get lost (downstream of altered splice site)
758793DOMAINEF-hand 1.might get lost (downstream of altered splice site)
9721007DOMAINEF-hand 2.might get lost (downstream of altered splice site)
985996CA_BINDPotential.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 320 / 320
chromosome 3
strand 1
last intron/exon boundary 1441
theoretical NMD boundary in CDS 1071
length of CDS 1245
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)		 36337
chromosomal position
(for ins/del: last normal base / first normal base)		 135720851
original gDNA sequence snippet ATTATAACAACGATGGGAACGCCCCATCCTTTGGTTTACTG
altered gDNA sequence snippet ATTATAACAACGATGGGAACTCCCCATCCTTTGGTTTACTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MDIEEQKADI YEMGKIAKVC GCPLYWKAPM FRAAGGEKTG FVTAQSFIAM WRKLLNNHHD
DASKFICLLA KPNCSSLEQE DFIPLLQDVV DTHPGLTFLK DAPEFHSRYI TTVIQRIFYT
VNRSWSGKIT STEIRKSNFL QTLALLEEEE DINQITDYFS YEHFYVIYCK FWELDTDHDL
YISQADLSRY NDQASSSRII ERIFSGAVTR GKTIQKEGRM SYADFVWFLI SEEDKRNPTS
IEYWFRCMDV DGDGVLSMYE LEYFYEEQCE RMEAMGIEPL PFHDLLCQML DLVKPAVDGK
ITLRDLKRCR MAHIFYDTFF NLEKYLDHEQ RDPFAVQKDV ENDGPEPSDW DRFAAEEYET
LVAEESAQAQ FQEGFEDYET DEPASPSEFG NKSNKILSAS LPEKCGKLQS VDEE*
mutated AA sequence N/A
speed 1.08 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