Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.987416138612105 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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 OR2L13
Ensembl transcript ID ENST00000366478
Genbank transcript ID NM_175911
UniProt peptide Q8N349
alteration type single base exchange
alteration region intron
DNA changes g.12253G>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
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 splice site change before start ATG (at aa -47) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased12251wt: 0.23 / mu: 0.49wt: CATGGACACCTGGGTCTATGAGGGCACAGTGTTTTTGAGTG
mu: CATGGACACCTGGGTCTATGAGTGCACAGTGTTTTTGAGTG		 atga|GGGC
Donor gained122460.35mu: TGGGTCTATGAGTGC GGTC|tatg
distance from splice site 12059
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
124TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
55CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
2020CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
2548TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
4956TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
5778TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
7999TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
9696DISULFIDBy similarity.might get lost (downstream of altered splice site)
100119TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
120138TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
139157TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
158194TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
188188DISULFIDBy similarity.might get lost (downstream of altered splice site)
195218TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
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 N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 338 / 338
chromosome 1
strand 1
last intron/exon boundary 320
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 N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 12253
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 N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MEKWNHTSND FILLGLLPPN QTGIFLLCLI ILIFFLASVG NSAMIHLIHV DPRLHTPMYF
LLSQLSLMDL MYISTTVPKM AYNFLSGQKG ISFLGCGVQS FFFLTMACSE GLLLTSMAYD
RYLAICHSLY YPIRMSKMMC VKMIGGSWTL GSINSLAHTV FALHIPYCRS RAIDHFFCDV
PAMLLLACTD TWVYEYMVFV STSLFLLFPF IGITSSCGRV LFAVYHMHSK EGRKKAFTTI
STHLTVVIFY YAPFVYTYLR PRNLRSPAED KILAVFYTIL TPMLNPIIYS LRNKEVLGAM
RRVFGIFSFL KE*
mutated AA sequence N/A
speed 0.83 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