Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999998 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • 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) chr11:4976241C>GN/A show variant in all transcripts   IGV
HGNC symbol OR51A2
Ensembl transcript ID ENST00000380371
Genbank transcript ID NM_001004748
UniProt peptide Q8NGJ7
alteration type single base exchange
alteration region CDS
DNA changes c.703G>C
cDNA.703G>C
g.703G>C
AA changes E235Q Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 235
frameshift no
known variant Reference ID: rs2570571
databasehomozygous (G/G)heterozygousallele carriers
1000G311536847
ExAC6037874014777
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.430
-1.8010
(flanking)-4.4370
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased705wt: 0.72 / mu: 0.91wt: GAGGAGCTTAAGGCT
mu: GAGCAGCTTAAGGCT		 GGAG|ctta
Donor increased698wt: 0.32 / mu: 0.67wt: CAAAAAGGAGGAGCT
mu: CAAAAAGGAGCAGCT		 AAAA|ggag
Donor increased694wt: 0.54 / mu: 0.73wt: CATCCAAAAAGGAGG
mu: CATCCAAAAAGGAGC		 TCCA|aaaa
Donor marginally increased696wt: 0.9596 / mu: 0.9607 (marginal change - not scored)wt: TCCAAAAAGGAGGAG
mu: TCCAAAAAGGAGCAG		 CAAA|aagg
Donor increased701wt: 0.61 / mu: 0.77wt: AAAGGAGGAGCTTAA
mu: AAAGGAGCAGCTTAA		 AGGA|ggag
distance from splice site 240
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      235KTVPGIASKKEELKALNTCVSHIC
mutated  all conserved    235KTVPGIASKKEQLKALN
Ptroglodytes  no homologue    
Mmulatta  all conserved  ENSMMUG00000001065  235KTVLGIASKKEQLKALN
Fcatus  all conserved  ENSFCAG00000010994  235KTVLGIASRKEQLKALN
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
219238TOPO_DOMCytoplasmic (Potential).lost
239259TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
260274TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
275295TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
296313TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 942 / 942
position (AA) of stopcodon in wt / mu AA sequence 314 / 314
position of stopcodon in wt / mu cDNA 942 / 942
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 11
strand -1
last intron/exon boundary 1
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 942
coding sequence (CDS) position 703
cDNA position
(for ins/del: last normal base / first normal base)		 703
gDNA position
(for ins/del: last normal base / first normal base)		 703
chromosomal position
(for ins/del: last normal base / first normal base)		 4976241
original gDNA sequence snippet GAATTGCATCCAAAAAGGAGGAGCTTAAGGCTCTCAATACT
altered gDNA sequence snippet GAATTGCATCCAAAAAGGAGCAGCTTAAGGCTCTCAATACT
original cDNA sequence snippet GAATTGCATCCAAAAAGGAGGAGCTTAAGGCTCTCAATACT
altered cDNA sequence snippet GAATTGCATCCAAAAAGGAGCAGCTTAAGGCTCTCAATACT
wildtype AA sequence MSIINTSYVE ITTFFLVGMP GLEYAHIWIS IPICSMYLIA ILGNGTILFI IKTEPSLHGP
MYYFLSMLAM SDLGLSLSSL PTVLSIFLFN APETSSSACF AQEFFIHGFS VLESSVLLIM
SFDRFLAIHN PLRYTSILTT VRVAQIGIVF SFKSMLLVLP FPFTLRSLRY CKKNQLSHSY
CLHQDVMKLA CSDNRIDVIY GFFGALCLMV DFILIAVSYT LILKTVPGIA SKKEELKALN
TCVSHICAVI IFYLPIINLA VVHRFAGHVS PLINVLMANV LLLVPPLMKP IVYCVKTKQI
RVRVVAKLCQ WKI*
mutated AA sequence MSIINTSYVE ITTFFLVGMP GLEYAHIWIS IPICSMYLIA ILGNGTILFI IKTEPSLHGP
MYYFLSMLAM SDLGLSLSSL PTVLSIFLFN APETSSSACF AQEFFIHGFS VLESSVLLIM
SFDRFLAIHN PLRYTSILTT VRVAQIGIVF SFKSMLLVLP FPFTLRSLRY CKKNQLSHSY
CLHQDVMKLA CSDNRIDVIY GFFGALCLMV DFILIAVSYT LILKTVPGIA SKKEQLKALN
TCVSHICAVI IFYLPIINLA VVHRFAGHVS PLINVLMANV LLLVPPLMKP IVYCVKTKQI
RVRVVAKLCQ WKI*
speed 1.32 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