Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999827 (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) chr19:14991963C>AN/A show variant in all transcripts   IGV
HGNC symbol OR7A17
Ensembl transcript ID ENST00000327462
Genbank transcript ID NM_030901
UniProt peptide O14581
alteration type single base exchange
alteration region CDS
DNA changes c.205G>T
cDNA.302G>T
g.302G>T
AA changes A69S Score: 99 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 69
frameshift no
known variant Reference ID: rs10404119
databasehomozygous (A/A)heterozygousallele carriers
1000G3469691315
ExAC69911878525776
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6210
0.0840
(flanking)-2.140
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased311wt: 0.40 / mu: 0.78wt: ACCTGTCCTTTGCAGACATCTGTTTCATCTCCACTACAATC
mu: ACCTGTCCTTTTCAGACATCTGTTTCATCTCCACTACAATC		 atct|GTTT
Acc marginally increased303wt: 0.8439 / mu: 0.8575 (marginal change - not scored)wt: CCTCTCCAACCTGTCCTTTGCAGACATCTGTTTCATCTCCA
mu: CCTCTCCAACCTGTCCTTTTCAGACATCTGTTTCATCTCCA		 ttgc|AGAC
Acc increased305wt: 0.81 / mu: 0.89wt: TCTCCAACCTGTCCTTTGCAGACATCTGTTTCATCTCCACT
mu: TCTCCAACCTGTCCTTTTCAGACATCTGTTTCATCTCCACT		 gcag|ACAT
Acc marginally increased293wt: 0.6296 / mu: 0.6847 (marginal change - not scored)wt: TGTACTTCTTCCTCTCCAACCTGTCCTTTGCAGACATCTGT
mu: TGTACTTCTTCCTCTCCAACCTGTCCTTTTCAGACATCTGT		 aacc|TGTC
Donor increased304wt: 0.71 / mu: 0.79wt: TTTGCAGACATCTGT
mu: TTTTCAGACATCTGT		 TGCA|gaca
Acc gained3040.97mu: CTCTCCAACCTGTCCTTTTCAGACATCTGTTTCATCTCCAC ttca|GACA
Acc gained3000.33mu: CTTCCTCTCCAACCTGTCCTTTTCAGACATCTGTTTCATCT cctt|TTCA
distance from splice site 302
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      69PMYFFLSNLSFADICFISTTIPKM
mutated  all conserved    69FFLSNLSFSDICFISTTIPK
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
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 
5575TRANSMEMHelical; Name=2; (Potential).lost
7699TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
9797DISULFIDBy similarity.might get lost (downstream of altered splice site)
100120TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
121139TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
140160TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
161197TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
189189DISULFIDBy similarity.might get lost (downstream of altered splice site)
198217TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
218237TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
238258TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
259271TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
272292TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
293309TOPO_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 1027 / 1027
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 98 / 98
chromosome 19
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 205
cDNA position
(for ins/del: last normal base / first normal base)		 302
gDNA position
(for ins/del: last normal base / first normal base)		 302
chromosomal position
(for ins/del: last normal base / first normal base)		 14991963
original gDNA sequence snippet TCCTCTCCAACCTGTCCTTTGCAGACATCTGTTTCATCTCC
altered gDNA sequence snippet TCCTCTCCAACCTGTCCTTTTCAGACATCTGTTTCATCTCC
original cDNA sequence snippet TCCTCTCCAACCTGTCCTTTGCAGACATCTGTTTCATCTCC
altered cDNA sequence snippet TCCTCTCCAACCTGTCCTTTTCAGACATCTGTTTCATCTCC
wildtype AA sequence MEPENDTGIS EFVLLGLSEE PELQPFLFGL FLSMYLVTVL GNLLIILATI SDSHLHTPMY
FFLSNLSFAD ICFISTTIPK MLINIQTQSR VITYAGCITQ MCFFVLFGGL DSLLLAVMAY
DRFVAICHPL HYTVIMNPRL CGLLVLASWM IAALNSLSQS LMVLWLSFCT DLEIPHFFCE
LNQVIHLACS DTFLNDMGMY FAAGLLAGGP LVGILCSYSK IVSSIRAISS AQGKYKAFST
CASHLSVVSL FCCTGLGVYL TSAATHNSHT SATASVMYTV ATPMLNPFIY SLRNKDIKRA
LKMSFRGKQ*
mutated AA sequence MEPENDTGIS EFVLLGLSEE PELQPFLFGL FLSMYLVTVL GNLLIILATI SDSHLHTPMY
FFLSNLSFSD ICFISTTIPK MLINIQTQSR VITYAGCITQ MCFFVLFGGL DSLLLAVMAY
DRFVAICHPL HYTVIMNPRL CGLLVLASWM IAALNSLSQS LMVLWLSFCT DLEIPHFFCE
LNQVIHLACS DTFLNDMGMY FAAGLLAGGP LVGILCSYSK IVSSIRAISS AQGKYKAFST
CASHLSVVSL FCCTGLGVYL TSAATHNSHT SATASVMYTV ATPMLNPFIY SLRNKDIKRA
LKMSFRGKQ*
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