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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: ENST00000248073
MT speed 0.48 s - this script 2.576452 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
OR7C1polymorphism_automatic2.87991852587766e-13simple_aaeS99Gsingle base exchangers17230134show file

Taster files

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Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999712 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM141906)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:14910654T>CN/A show variant in all transcripts   IGV
HGNC symbol OR7C1
Ensembl transcript ID ENST00000248073
Genbank transcript ID NM_198944
UniProt peptide O76099
alteration type single base exchange
alteration region CDS
DNA changes c.295A>G
cDNA.370A>G
g.370A>G
AA changes S99G Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 99
frameshift no
known variant Reference ID: rs17230134
databasehomozygous (C/C)heterozygousallele carriers
1000G130736866
ExAC23591806820427

known disease mutation at this position, please check HGMD for details (HGMD ID CM141906)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.8220
-0.3540
(flanking)-0.1440.001
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 370
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      99QNKFITYAGCLSQIFFFTSFGCLD
mutated  not conserved    99QNKFITYAGCLGQIFFFTSFGCL
Ptroglodytes  all identical  ENSPTRG00000010602  99QNKFITYAGCLSQIFFFTSFGCL
Mmulatta  no homologue    
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 
7699TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 963 / 963
position (AA) of stopcodon in wt / mu AA sequence 321 / 321
position of stopcodon in wt / mu cDNA 1038 / 1038
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 76 / 76
chromosome 19
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 963
coding sequence (CDS) position 295
cDNA position
(for ins/del: last normal base / first normal base)		 370
gDNA position
(for ins/del: last normal base / first normal base)		 370
chromosomal position
(for ins/del: last normal base / first normal base)		 14910654
original gDNA sequence snippet TAACATATGCAGGCTGTCTCAGTCAGATTTTTTTTTTCACT
altered gDNA sequence snippet TAACATATGCAGGCTGTCTCGGTCAGATTTTTTTTTTCACT
original cDNA sequence snippet TAACATATGCAGGCTGTCTCAGTCAGATTTTTTTTTTCACT
altered cDNA sequence snippet TAACATATGCAGGCTGTCTCGGTCAGATTTTTTTTTTCACT
wildtype AA sequence METGNQTHAQ EFLLLGFSAT SEIQFILFGL FLSMYLVTFT GNLLIILAIC SDSHLHTPMY
FFLSNLSFAD LCFTSTTVPK MLLNILTQNK FITYAGCLSQ IFFFTSFGCL DNLLLTVMAY
DRFVAVCHPL HYTVIMNPQL CGLLVLGSWC ISVMGSLLET LTVLRLSFCT EMEIPHFFCD
LLEVLKLACS DTFINNVVIY FATGVLGVIS FTGIFFSYYK IVFSILRISS AGRKHKAFST
CGSHLSVVTL FYGTGFGVYL SSAATPSSRT SLVASVMYTM VTPMLNPFIY SLRNTDMKRA
LGRLLSRATF FNGDITAGLS *
mutated AA sequence METGNQTHAQ EFLLLGFSAT SEIQFILFGL FLSMYLVTFT GNLLIILAIC SDSHLHTPMY
FFLSNLSFAD LCFTSTTVPK MLLNILTQNK FITYAGCLGQ IFFFTSFGCL DNLLLTVMAY
DRFVAVCHPL HYTVIMNPQL CGLLVLGSWC ISVMGSLLET LTVLRLSFCT EMEIPHFFCD
LLEVLKLACS DTFINNVVIY FATGVLGVIS FTGIFFSYYK IVFSILRISS AGRKHKAFST
CGSHLSVVTL FYGTGFGVYL SSAATPSSRT SLVASVMYTM VTPMLNPFIY SLRNTDMKRA
LGRLLSRATF FNGDITAGLS *
speed 0.48 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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