Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999998 (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) chr9:18950787G>AN/A show variant in all transcripts   IGV
HGNC symbol SAXO1
Ensembl transcript ID ENST00000380530
Genbank transcript ID N/A
UniProt peptide Q8IYX7
alteration type single base exchange
alteration region CDS
DNA changes c.187C>T
cDNA.532C>T
g.82465C>T
AA changes P63S Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 63
frameshift no
known variant Reference ID: rs6475273
databasehomozygous (A/A)heterozygousallele carriers
1000G14708672337
ExAC---
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0740
-0.1450.002
(flanking)0.2490.027
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained824580.46mu: TACCAGAAAGGGTCT CCAG|aaag
distance from splice site 32
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      63SFKPRREYQKGPIPMEGLTTSS*
mutated  not conserved    63KGSIPMEGLTTSS
Ptroglodytes  not conserved  ENSPTRG00000020796  63KGSIPMEGLTTS
Mmulatta  not conserved  ENSMMUG00000018394  63KGSIPMEGLTTS
Fcatus  no alignment  ENSFCAG00000004841  n/a
Mmusculus  not conserved  ENSMUSG00000028492  64PSAPMEGLTT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
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 222 / 222
position (AA) of stopcodon in wt / mu AA sequence 74 / 74
position of stopcodon in wt / mu cDNA 567 / 567
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 346 / 346
chromosome 9
strand -1
last intron/exon boundary 564
theoretical NMD boundary in CDS 168
length of CDS 222
coding sequence (CDS) position 187
cDNA position
(for ins/del: last normal base / first normal base)		 532
gDNA position
(for ins/del: last normal base / first normal base)		 82465
chromosomal position
(for ins/del: last normal base / first normal base)		 18950787
original gDNA sequence snippet GGCGGGAGTACCAGAAAGGGCCTATACCAATGGAAGGCCTG
altered gDNA sequence snippet GGCGGGAGTACCAGAAAGGGTCTATACCAATGGAAGGCCTG
original cDNA sequence snippet GGCGGGAGTACCAGAAAGGGCCTATACCAATGGAAGGCCTG
altered cDNA sequence snippet GGCGGGAGTACCAGAAAGGGTCTATACCAATGGAAGGCCTG
wildtype AA sequence MKTKCICELC SCGRHHCPHL PTKIYDKTEK PCLLSEYTEN YPFYHSYLPR ESFKPRREYQ
KGPIPMEGLT TSS*
mutated AA sequence MKTKCICELC SCGRHHCPHL PTKIYDKTEK PCLLSEYTEN YPFYHSYLPR ESFKPRREYQ
KGSIPMEGLT TSS*
speed 0.77 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