Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999852438 (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) chr11:51516036G>AN/A show variant in all transcripts   IGV
HGNC symbol OR4C46
Ensembl transcript ID ENST00000328188
Genbank transcript ID NM_001004703
UniProt peptide A6NHA9
alteration type single base exchange
alteration region CDS
DNA changes c.755G>A
cDNA.755G>A
g.755G>A
AA changes C252Y Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 252
frameshift no
known variant Reference ID: rs11246608
databasehomozygous (A/A)heterozygousallele carriers
1000G55710771634
ExAC17107-144715660
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3640
0.2310
(flanking)0.1750
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 increased760wt: 0.5898 / mu: 0.6243 (marginal change - not scored)wt: TATTCTTTGTGCCCTGCATATTTGTGTACATGAGACCTGCA
mu: TATTCTTTGTGCCCTACATATTTGTGTACATGAGACCTGCA		 atat|TTGT
Acc marginally increased746wt: 0.6422 / mu: 0.6802 (marginal change - not scored)wt: CACGGTTGTCATCTTATTCTTTGTGCCCTGCATATTTGTGT
mu: CACGGTTGTCATCTTATTCTTTGTGCCCTACATATTTGTGT		 tctt|TGTG
Acc increased755wt: 0.57 / mu: 0.65wt: CATCTTATTCTTTGTGCCCTGCATATTTGTGTACATGAGAC
mu: CATCTTATTCTTTGTGCCCTACATATTTGTGTACATGAGAC		 cctg|CATA
Acc marginally increased758wt: 0.9900 / mu: 0.9931 (marginal change - not scored)wt: CTTATTCTTTGTGCCCTGCATATTTGTGTACATGAGACCTG
mu: CTTATTCTTTGTGCCCTACATATTTGTGTACATGAGACCTG		 gcat|ATTT
Donor marginally increased759wt: 0.3405 / mu: 0.3552 (marginal change - not scored)wt: TGCATATTTGTGTAC
mu: TACATATTTGTGTAC		 CATA|tttg
distance from splice site 176
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      252HITVVILFFVPCIFVYMRPAATLP
mutated  not conserved    252HITVVILFFVPYIFVYMRPAATL
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000049057  252HITVVVLFFVPCIFVYMRPVATL
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 
237257TRANSMEMHelical; Name=6; (Potential).lost
258266TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
267287TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
288309TOPO_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 930 / 930
position (AA) of stopcodon in wt / mu AA sequence 310 / 310
position of stopcodon in wt / mu cDNA 930 / 930
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 930
coding sequence (CDS) position 755
cDNA position
(for ins/del: last normal base / first normal base)		 755
gDNA position
(for ins/del: last normal base / first normal base)		 755
chromosomal position
(for ins/del: last normal base / first normal base)		 51516036
original gDNA sequence snippet CATCTTATTCTTTGTGCCCTGCATATTTGTGTACATGAGAC
altered gDNA sequence snippet CATCTTATTCTTTGTGCCCTACATATTTGTGTACATGAGAC
original cDNA sequence snippet CATCTTATTCTTTGTGCCCTGCATATTTGTGTACATGAGAC
altered cDNA sequence snippet CATCTTATTCTTTGTGCCCTACATATTTGTGTACATGAGAC
wildtype AA sequence MENRNNMTEF VLLGLTENPK MQKIIFVVFF VIYIITVVGY VLIVVTITAS PSLGSPMYLS
LAYLSFIDAC YSSVNTPNLI THSLYGKKAI LFNGCMTQVF GEHFFGGAEG ILLTVMAYDH
YVAICKPLHY MTIMNQCVCA LLMGVVWMGG FLHATIQILF IFQLPFCGPN VIDHFMCDLN
PLLNLACTDT HMLELFIAAN SGFICLLNFA LLLVSYVVIL CSLRTHSLEA RHKALSTCVS
HITVVILFFV PCIFVYMRPA ATLPIDKAVA IFYTMITPML NPLIYTLKNA QMKNAIRKLC
SRKDISGDK*
mutated AA sequence MENRNNMTEF VLLGLTENPK MQKIIFVVFF VIYIITVVGY VLIVVTITAS PSLGSPMYLS
LAYLSFIDAC YSSVNTPNLI THSLYGKKAI LFNGCMTQVF GEHFFGGAEG ILLTVMAYDH
YVAICKPLHY MTIMNQCVCA LLMGVVWMGG FLHATIQILF IFQLPFCGPN VIDHFMCDLN
PLLNLACTDT HMLELFIAAN SGFICLLNFA LLLVSYVVIL CSLRTHSLEA RHKALSTCVS
HITVVILFFV PYIFVYMRPA ATLPIDKAVA IFYTMITPML NPLIYTLKNA QMKNAIRKLC
SRKDISGDK*
speed 1.05 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