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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: ENST00000312253
MT speed 0 s - this script 2.997103 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
OR5R1polymorphism_automatic2.86204393518119e-12simple_aaeA274Vsingle base exchangers998544show file

Taster files

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 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999997138 (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) chr11:56184888G>AN/A show variant in all transcripts   IGV
HGNC symbol OR5R1
Ensembl transcript ID ENST00000312253
Genbank transcript ID NM_001004744
UniProt peptide Q8NH85
alteration type single base exchange
alteration region CDS
DNA changes c.821C>T
cDNA.821C>T
g.821C>T
AA changes A274V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 274
frameshift no
known variant Reference ID: rs998544
databasehomozygous (A/A)heterozygousallele carriers
1000G59410501644
ExAC12435789720332
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.8360
0.1140
(flanking)0.9090.004
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 155
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      274KSNHSLDTDKMASVFYTVVIPMLN
mutated  not conserved    274KSNHSLDTDKMVSVFYTVVIPML
Ptroglodytes  all identical  ENSPTRG00000029963  274KSNHSLDTDKMASVFYTVVIPML
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 
272292TRANSMEMHelical; Name=7; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 975 / 975
position (AA) of stopcodon in wt / mu AA sequence 325 / 325
position of stopcodon in wt / mu cDNA 975 / 975
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 975
coding sequence (CDS) position 821
cDNA position
(for ins/del: last normal base / first normal base)		 821
gDNA position
(for ins/del: last normal base / first normal base)		 821
chromosomal position
(for ins/del: last normal base / first normal base)		 56184888
original gDNA sequence snippet CTTGGACACAGACAAGATGGCTTCTGTATTTTACACAGTGG
altered gDNA sequence snippet CTTGGACACAGACAAGATGGTTTCTGTATTTTACACAGTGG
original cDNA sequence snippet CTTGGACACAGACAAGATGGCTTCTGTATTTTACACAGTGG
altered cDNA sequence snippet CTTGGACACAGACAAGATGGTTTCTGTATTTTACACAGTGG
wildtype AA sequence MAEVNIIYVT VFILKGITNR PELQAPCFGV FLVIYLVTVL GNLGLITLIK IDTRLHTPMY
YFLSHLAFVD LCYSSAITPK MMVNFVVERN TIPFHACATQ LGCFLTFMIT ECFLLASMAY
DCYVAICSPL HYSTLMSRRV CIQLVAVPYI YSFLVALFHT VITFRLTYCG PNLINHFYCD
DLPFLALSCS DTHMKEILIF AFAGFDMISS SSIVLTSYIF IIAAILRIRS TQGQHKAIST
CGSHMVTVTI FYGTLIFMYL QPKSNHSLDT DKMASVFYTV VIPMLNPLIY SLRNKEVKDA
SKKALDKGCE NLQILTFLKI RKLY*
mutated AA sequence MAEVNIIYVT VFILKGITNR PELQAPCFGV FLVIYLVTVL GNLGLITLIK IDTRLHTPMY
YFLSHLAFVD LCYSSAITPK MMVNFVVERN TIPFHACATQ LGCFLTFMIT ECFLLASMAY
DCYVAICSPL HYSTLMSRRV CIQLVAVPYI YSFLVALFHT VITFRLTYCG PNLINHFYCD
DLPFLALSCS DTHMKEILIF AFAGFDMISS SSIVLTSYIF IIAAILRIRS TQGQHKAIST
CGSHMVTVTI FYGTLIFMYL QPKSNHSLDT DKMVSVFYTV VIPMLNPLIY SLRNKEVKDA
SKKALDKGCE NLQILTFLKI RKLY*
speed 0.99 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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Problems