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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: ENST00000343870
MT speed 0 s - this script 2.695678 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
OR6C74polymorphism_automatic3.02242769700811e-08simple_aaeaffectedG86Dsingle base exchangers6581025show file

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Prediction

polymorphism

Model: simple_aae, prob: 0.999999969775723 (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) chr12:55641328G>AN/A show variant in all transcripts   IGV
HGNC symbol OR6C74
Ensembl transcript ID ENST00000343870
Genbank transcript ID NM_001005490
UniProt peptide A6NCV1
alteration type single base exchange
alteration region CDS
DNA changes c.257G>A
cDNA.347G>A
g.347G>A
AA changes G86D Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS
86
frameshift no
known variant Reference ID: rs6581025
databasehomozygous (A/A)heterozygousallele carriers
1000G144852996
ExAC50242271927743
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1140.101
1.550.094
(flanking)-1.0120
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased338wt: 0.8732 / mu: 0.9027 (marginal change - not scored)wt: TCCCAAATTTCTTGTTAGTATGGCAACAGGTGATAAGACCA
mu: TCCCAAATTTCTTGTTAGTATGGCAACAGATGATAAGACCA
 gtat|GGCA
Donor marginally increased348wt: 0.9969 / mu: 0.9986 (marginal change - not scored)wt: ACAGGTGATAAGACC
mu: ACAGATGATAAGACC
 AGGT|gata
Donor marginally increased345wt: 0.7590 / mu: 0.8196 (marginal change - not scored)wt: GCAACAGGTGATAAG
mu: GCAACAGATGATAAG
 AACA|ggtg
Donor increased338wt: 0.50 / mu: 0.63wt: TAGTATGGCAACAGG
mu: TAGTATGGCAACAGA
 GTAT|ggca
Donor gained3430.71mu: TGGCAACAGATGATA GCAA|caga
distance from splice site 347
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      86YIPKFLVSMATGDKTISYNDCAAQ
mutated  not conserved    86YIPKFLVSMATDDKTISYNDCAA
Ptroglodytes  all identical  ENSPTRG00000005050  86CIPKFLVSMATGDKTISYNDCAA
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000044897  86CIPKFLVSMATGDKTISYNECAA
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 
6484TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
8595TOPO_DOMExtracellular (Potential).lost
9595DISULFIDBy similarity.might get lost (downstream of altered splice site)
96116TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
117140TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
141161TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
162194TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
177177DISULFIDBy similarity.might get lost (downstream of altered splice site)
195215TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
216237TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
238258TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
259269TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
270290TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
291312TOPO_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 939 / 939
position (AA) of stopcodon in wt / mu AA sequence 313 / 313
position of stopcodon in wt / mu cDNA 1029 / 1029
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 91 / 91
chromosome 12
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 939
coding sequence (CDS) position 257
cDNA position
(for ins/del: last normal base / first normal base)
347
gDNA position
(for ins/del: last normal base / first normal base)
347
chromosomal position
(for ins/del: last normal base / first normal base)
55641328
original gDNA sequence snippet TCTTGTTAGTATGGCAACAGGTGATAAGACCATTTCTTACA
altered gDNA sequence snippet TCTTGTTAGTATGGCAACAGATGATAAGACCATTTCTTACA
original cDNA sequence snippet TCTTGTTAGTATGGCAACAGGTGATAAGACCATTTCTTACA
altered cDNA sequence snippet TCTTGTTAGTATGGCAACAGATGATAAGACCATTTCTTACA
wildtype AA sequence MRNHTTVANF ILLGLTDDPQ LQVIIFLLLF FTYMLSITGN LTIITLTLLD LHLKTPMYFF
LRNFSFLEVS FTTVYIPKFL VSMATGDKTI SYNDCAAQLF FTILLGATEF FLLAAMSYER
YVAICKPLHY TTIMSSRVCS LLVFASWMAG FLIIFPPLLM GLQLDFCAAN TVDHFFCDVS
PILQLSCTDT DIIELMMLLS AILTLLVTLV LVILSYTNII RTILKIPSSQ QRKKAFSTCS
SHMVVVSISY GSCIFMYVKP SAKERVSLNK GIALLSTSVA PMLNPFIYTL RNKQVKDVFK
HTVKKIELFS MK*
mutated AA sequence MRNHTTVANF ILLGLTDDPQ LQVIIFLLLF FTYMLSITGN LTIITLTLLD LHLKTPMYFF
LRNFSFLEVS FTTVYIPKFL VSMATDDKTI SYNDCAAQLF FTILLGATEF FLLAAMSYER
YVAICKPLHY TTIMSSRVCS LLVFASWMAG FLIIFPPLLM GLQLDFCAAN TVDHFFCDVS
PILQLSCTDT DIIELMMLLS AILTLLVTLV LVILSYTNII RTILKIPSSQ QRKKAFSTCS
SHMVVVSISY GSCIFMYVKP SAKERVSLNK GIALLSTSVA PMLNPFIYTL RNKQVKDVFK
HTVKKIELFS MK*
speed 0.68 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