Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999998761817502 (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) chr1:248112745G>TN/A show variant in all transcripts   IGV
HGNC symbol OR2L8
Ensembl transcript ID ENST00000357191
Genbank transcript ID NM_001001963
UniProt peptide Q8NGY9
alteration type single base exchange
alteration region CDS
DNA changes c.586G>T
cDNA.586G>T
g.586G>T
AA changes G196C Score: 159 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 196
frameshift no
known variant Reference ID: rs4925788
databasehomozygous (T/T)heterozygousallele carriers
1000G13888442232
ExAC---
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)1.530.793
-0.1870.007
(flanking)-1.3760
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased584wt: 0.23 / mu: 0.49wt: CATGGACACCTGGGTCTATGAGGGCACAGTGTTTTTGAGTG
mu: CATGGACACCTGGGTCTATGAGTGCACAGTGTTTTTGAGTG		 atga|GGGC
Donor gained5790.35mu: TGGGTCTATGAGTGC GGTC|tatg
distance from splice site 354
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      196TLACMDTWVYEGTVFLSATIFLVF
mutated  not conserved    196TLACMDTWVYECTVFLSATIFLV
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000031195  196TLACTDTWVYEGTVFLSTTIFLV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000045341  196TLACTDTWVYEYTVFVSTILFLV
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 
158194TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
195218TRANSMEMHelical; Name=5; (Potential).lost
219235TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
236258TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
259271TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
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 939 / 939
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 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 586
cDNA position
(for ins/del: last normal base / first normal base)		 586
gDNA position
(for ins/del: last normal base / first normal base)		 586
chromosomal position
(for ins/del: last normal base / first normal base)		 248112745
original gDNA sequence snippet TGGACACCTGGGTCTATGAGGGCACAGTGTTTTTGAGTGCC
altered gDNA sequence snippet TGGACACCTGGGTCTATGAGTGCACAGTGTTTTTGAGTGCC
original cDNA sequence snippet TGGACACCTGGGTCTATGAGGGCACAGTGTTTTTGAGTGCC
altered cDNA sequence snippet TGGACACCTGGGTCTATGAGTGCACAGTGTTTTTGAGTGCC
wildtype AA sequence MENYNQTSTD FILLGLFPPS RIDLFFFILI VFIFLMALIG NLSMILLIFL DTHLHTPMYF
LLSQLSLIDL NYISTIVPKM ASDFLHGNKS ISFTGCGIQS FFFLALGGAE ALLLASMAYD
RYIAICFPLH YLIRMSKRVC VLMITGSWII GSINACAHTV YVLHIPYCRS RAINHFFCDV
PAMVTLACMD TWVYEGTVFL SATIFLVFPF IGISCSYGQV LFAVYHMKSA EGRKKAYLTC
STHLTVVTFY YAPFVYTYLR PRSLRSPTED KVLAVFYTIL TPMLNPIIYS LRNKEVMGAL
TRVSQRICSV KM*
mutated AA sequence MENYNQTSTD FILLGLFPPS RIDLFFFILI VFIFLMALIG NLSMILLIFL DTHLHTPMYF
LLSQLSLIDL NYISTIVPKM ASDFLHGNKS ISFTGCGIQS FFFLALGGAE ALLLASMAYD
RYIAICFPLH YLIRMSKRVC VLMITGSWII GSINACAHTV YVLHIPYCRS RAINHFFCDV
PAMVTLACMD TWVYECTVFL SATIFLVFPF IGISCSYGQV LFAVYHMKSA EGRKKAYLTC
STHLTVVTFY YAPFVYTYLR PRSLRSPTED KVLAVFYTIL TPMLNPIIYS LRNKEVMGAL
TRVSQRICSV KM*
speed 0.15 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