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MutationTaster - study a chromosomal position

 MTQE documentation
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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000383696
MT speed 0 s - this script 2.975562 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
OR5H6polymorphism_automatic7.82367059859457e-05simple_aaeA145Psingle base exchangers9289564show file

Taster files

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 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999921763294014 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:97983561G>CN/A show variant in all transcripts   IGV
HGNC symbol OR5H6
Ensembl transcript ID ENST00000383696
Genbank transcript ID NM_001005479
UniProt peptide Q8NGV6
alteration type single base exchange
alteration region CDS
DNA changes c.433G>C
cDNA.474G>C
g.474G>C
AA changes A145P Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 145
frameshift no
known variant Reference ID: rs9289564
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC28384-240014383
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3550.989
1.3620.998
(flanking)3.5760.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 474
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      145MAYDRYVAICKALLYPVIMTNELC
mutated  not conserved    145MAYDRYVAICKPLLYPVIMTNEL
Ptroglodytes  not conserved  ENSPTRG00000040605  145MAYDRYVAICKPLLYPVIMTNEL
Mmulatta  not conserved  ENSMMUG00000006555  129DRYVAICKPLLYPVIMTNGL
Fcatus  no homologue    
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 
137155TOPO_DOMCytoplasmic (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 978 / 978
position (AA) of stopcodon in wt / mu AA sequence 326 / 326
position of stopcodon in wt / mu cDNA 1019 / 1019
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 42 / 42
chromosome 3
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 978
coding sequence (CDS) position 433
cDNA position
(for ins/del: last normal base / first normal base)		 474
gDNA position
(for ins/del: last normal base / first normal base)		 474
chromosomal position
(for ins/del: last normal base / first normal base)		 97983561
original gDNA sequence snippet GCTATGTAGCCATTTGCAAAGCTTTACTTTATCCAGTCATT
altered gDNA sequence snippet GCTATGTAGCCATTTGCAAACCTTTACTTTATCCAGTCATT
original cDNA sequence snippet GCTATGTAGCCATTTGCAAAGCTTTACTTTATCCAGTCATT
altered cDNA sequence snippet GCTATGTAGCCATTTGCAAACCTTTACTTTATCCAGTCATT
wildtype AA sequence MFLYLCFIFQ RTCSEEMEEE NATLLTEFVL TGFLHQPDCK IPLFLAFLVI YLITIMGNLG
LIVLIWKDPH LHIPMYLFLG SLAFVDASLS STVTPKMLIN FLAKSKMISL SECMVQFFSL
VTTVTTECFL LATMAYDRYV AICKALLYPV IMTNELCIQL LVLSFIGGLL HALIHEAFSF
RLTFCNSNII QHFYCDIIPL LKISCTDSSI NFLMVFIFAG SVQVFTIGTI LISYTIILFT
ILEKKSIKGI RKAVSTCGAH LLSVSLYYGP LTFKYLGSAS PQADDQDMME SLFYTVIVPL
LNPMIYSLRN KQVIASFTKM FKSNV*
mutated AA sequence MFLYLCFIFQ RTCSEEMEEE NATLLTEFVL TGFLHQPDCK IPLFLAFLVI YLITIMGNLG
LIVLIWKDPH LHIPMYLFLG SLAFVDASLS STVTPKMLIN FLAKSKMISL SECMVQFFSL
VTTVTTECFL LATMAYDRYV AICKPLLYPV IMTNELCIQL LVLSFIGGLL HALIHEAFSF
RLTFCNSNII QHFYCDIIPL LKISCTDSSI NFLMVFIFAG SVQVFTIGTI LISYTIILFT
ILEKKSIKGI RKAVSTCGAH LLSVSLYYGP LTFKYLGSAS PQADDQDMME SLFYTVIVPL
LNPMIYSLRN KQVIASFTKM FKSNV*
speed 0.96 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
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