Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999779 (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) chr1:248202344G>CN/A show variant in all transcripts   IGV
HGNC symbol OR2L2
Ensembl transcript ID ENST00000366479
Genbank transcript ID NM_001004686
UniProt peptide Q8NH16
alteration type single base exchange
alteration region CDS
DNA changes c.775G>C
cDNA.871G>C
g.871G>C
AA changes V259L Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 259
frameshift no
known variant Reference ID: rs6658141
databasehomozygous (C/C)heterozygousallele carriers
1000G4807681248
ExAC40001594719947
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9360
1.2170.006
(flanking)1.030.006
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 increased869wt: 0.4998 / mu: 0.5123 (marginal change - not scored)wt: TGCACCCTTTGCTTATACCTATGTACGTCCAAGATCCCTGC
mu: TGCACCCTTTGCTTATACCTATCTACGTCCAAGATCCCTGC		 ccta|TGTA
Acc increased880wt: 0.68 / mu: 0.81wt: CTTATACCTATGTACGTCCAAGATCCCTGCGATCTCCAACA
mu: CTTATACCTATCTACGTCCAAGATCCCTGCGATCTCCAACA		 ccaa|GATC
Acc marginally increased872wt: 0.6027 / mu: 0.6437 (marginal change - not scored)wt: ACCCTTTGCTTATACCTATGTACGTCCAAGATCCCTGCGAT
mu: ACCCTTTGCTTATACCTATCTACGTCCAAGATCCCTGCGAT		 atgt|ACGT
Acc marginally increased874wt: 0.9115 / mu: 0.9474 (marginal change - not scored)wt: CCTTTGCTTATACCTATGTACGTCCAAGATCCCTGCGATCT
mu: CCTTTGCTTATACCTATCTACGTCCAAGATCCCTGCGATCT		 gtac|GTCC
Acc marginally increased868wt: 0.9087 / mu: 0.9474 (marginal change - not scored)wt: ATGCACCCTTTGCTTATACCTATGTACGTCCAAGATCCCTG
mu: ATGCACCCTTTGCTTATACCTATCTACGTCCAAGATCCCTG		 acct|ATGT
Acc marginally increased862wt: 0.8954 / mu: 0.9255 (marginal change - not scored)wt: TCTACTATGCACCCTTTGCTTATACCTATGTACGTCCAAGA
mu: TCTACTATGCACCCTTTGCTTATACCTATCTACGTCCAAGA		 gctt|ATAC
Donor marginally increased869wt: 0.9138 / mu: 0.9465 (marginal change - not scored)wt: TACCTATGTACGTCC
mu: TACCTATCTACGTCC		 CCTA|tgta
Donor marginally increased875wt: 0.9623 / mu: 0.9860 (marginal change - not scored)wt: TGTACGTCCAAGATC
mu: TCTACGTCCAAGATC		 TACG|tcca
Acc gained8730.50mu: CCCTTTGCTTATACCTATCTACGTCCAAGATCCCTGCGATC tcta|CGTC
distance from splice site 264
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      259SFYYAPFAYTYVRPRSLRSPTEDK
mutated  all conserved    259SFYYAPFAYTYLRPRSLRSPTED
Ptroglodytes  no homologue    
Mmulatta  all conserved  ENSMMUG00000031155  259TFYYAPFAYTYLRPRSLRSPTED
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000045341  259TFYYAPFAYTYLRPRSLRSPEED
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 
259271TOPO_DOMExtracellular (Potential).lost
272291TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
292312TOPO_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 1035 / 1035
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 97 / 97
chromosome 1
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 775
cDNA position
(for ins/del: last normal base / first normal base)		 871
gDNA position
(for ins/del: last normal base / first normal base)		 871
chromosomal position
(for ins/del: last normal base / first normal base)		 248202344
original gDNA sequence snippet CACCCTTTGCTTATACCTATGTACGTCCAAGATCCCTGCGA
altered gDNA sequence snippet CACCCTTTGCTTATACCTATCTACGTCCAAGATCCCTGCGA
original cDNA sequence snippet CACCCTTTGCTTATACCTATGTACGTCCAAGATCCCTGCGA
altered cDNA sequence snippet CACCCTTTGCTTATACCTATCTACGTCCAAGATCCCTGCGA
wildtype AA sequence MENYNQTSTD FILLGLFPQS RIGLFVFTLI FLIFLMALIG NLSMILLIFL DIHLHTPMYF
LLSQLSLIDL NYISTIVPKM VYDFLYGNKS ISFTGCGIQS FFFLTLAVAE GLLLTSMAYD
RYVAICFPLH YPIRISKRVC VMMITGSWMI SSINSCAHTV YALCIPYCKS RAINHFFCDV
PAMLTLACTD TWVYESTVFL SSTIFLVLPF TGIACSYGRV LLAVYRMHSA EGRKKAYSTC
STHLTVVSFY YAPFAYTYVR PRSLRSPTED KILAVFYTIL TPMLNPIIYS LRNKEVMGAL
TQVIQKIFSV KM*
mutated AA sequence MENYNQTSTD FILLGLFPQS RIGLFVFTLI FLIFLMALIG NLSMILLIFL DIHLHTPMYF
LLSQLSLIDL NYISTIVPKM VYDFLYGNKS ISFTGCGIQS FFFLTLAVAE GLLLTSMAYD
RYVAICFPLH YPIRISKRVC VMMITGSWMI SSINSCAHTV YALCIPYCKS RAINHFFCDV
PAMLTLACTD TWVYESTVFL SSTIFLVLPF TGIACSYGRV LLAVYRMHSA EGRKKAYSTC
STHLTVVSFY YAPFAYTYLR PRSLRSPTED KILAVFYTIL TPMLNPIIYS LRNKEVMGAL
TQVIQKIFSV KM*
speed 1.00 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