Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999954417264 (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) chr11:5373114G>AN/A show variant in all transcripts   IGV
HGNC symbol OR51B6
Ensembl transcript ID ENST00000380219
Genbank transcript ID NM_001004750
UniProt peptide Q9H340
alteration type single base exchange
alteration region CDS
DNA changes c.377G>A
cDNA.377G>A
g.377G>A
AA changes S126N Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 126
frameshift no
known variant Reference ID: rs5006888
databasehomozygous (A/A)heterozygousallele carriers
1000G94211532095
ExAC22245-1172310522
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5740.373
0.1360.411
(flanking)0.8530.761
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased380wt: 0.9280 / mu: 0.9358 (marginal change - not scored)wt: CAGCCCCTTAAGATA
mu: CAACCCCTTAAGATA		 GCCC|ctta
Donor gained3730.47mu: CCATCCGCAACCCCT ATCC|gcaa
distance from splice site 377
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      126AMAYDCFITIRSPLRYTSILTNTQ
mutated  all conserved    126FITIRNPLRYTSILTNT
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000047163  129FIAIRNPLRYTTILTDT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000016607  129AMAFDRFVAICHPL
protein features
start (aa)end (aa)featuredetails 
119137TOPO_DOMCytoplasmic (Potential).lost
123126CONFLICTTIRS -> AIHN (in Ref. 1; AAG41682).lost
138158TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
159194TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
187187DISULFIDBy similarity.might get lost (downstream of altered splice site)
195215TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
216235TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
236256TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
257271TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
272292TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
293312TOPO_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 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 939
coding sequence (CDS) position 377
cDNA position
(for ins/del: last normal base / first normal base)		 377
gDNA position
(for ins/del: last normal base / first normal base)		 377
chromosomal position
(for ins/del: last normal base / first normal base)		 5373114
original gDNA sequence snippet CTGTTTCATTACCATCCGCAGCCCCTTAAGATATACCTCTA
altered gDNA sequence snippet CTGTTTCATTACCATCCGCAACCCCTTAAGATATACCTCTA
original cDNA sequence snippet CTGTTTCATTACCATCCGCAGCCCCTTAAGATATACCTCTA
altered cDNA sequence snippet CTGTTTCATTACCATCCGCAACCCCTTAAGATATACCTCTA
wildtype AA sequence MGLNKSASTF QLTGFPGMEK AHHWIFIPLL AAYISILLGN GTLLFLIRND HNLHEPMYYF
LAMLAATDLG VTLTTMPTVL GVLWLDHREI GHGACFSQAY FIHTLSVMES GVLLAMAYDC
FITIRSPLRY TSILTNTQVM KIGVRVLTRA GLSIMPIVVR LHWFPYCRSH VLSHAFCLHQ
DVIKLACADI TFNRLYPVVV LFAMVLLDFL IIFFSYILIL KTVMGIGSGG ERAKALNTCV
SHICCILVFY VTVVCLTFIH RFGKHVPHVV HITMSYIHFL FPPFMNPFIY SIKTKQIQSG
ILRLFSLPHS RA*
mutated AA sequence MGLNKSASTF QLTGFPGMEK AHHWIFIPLL AAYISILLGN GTLLFLIRND HNLHEPMYYF
LAMLAATDLG VTLTTMPTVL GVLWLDHREI GHGACFSQAY FIHTLSVMES GVLLAMAYDC
FITIRNPLRY TSILTNTQVM KIGVRVLTRA GLSIMPIVVR LHWFPYCRSH VLSHAFCLHQ
DVIKLACADI TFNRLYPVVV LFAMVLLDFL IIFFSYILIL KTVMGIGSGG ERAKALNTCV
SHICCILVFY VTVVCLTFIH RFGKHVPHVV HITMSYIHFL FPPFMNPFIY SIKTKQIQSG
ILRLFSLPHS RA*
speed 1.16 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