Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999792 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:5344902C>GN/A show variant in all transcripts   IGV
HGNC symbol OR51B2
Ensembl transcript ID ENST00000328813
Genbank transcript ID NM_033180
UniProt peptide Q9Y5P1
alteration type single base exchange
alteration region CDS
DNA changes c.626G>C
cDNA.681G>C
g.681G>C
AA changes C209S Score: 112 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 209
frameshift no
known variant Reference ID: rs7937237
databasehomozygous (G/G)heterozygousallele carriers
1000G14698442313
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0280
-0.550
(flanking)0.7330.001
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 increased675wt: 0.6512 / mu: 0.6613 (marginal change - not scored)wt: GATCTCTTTAACAATCTTCCTAGACTGTCTGATCATCCTCT
mu: GATCTCTTTAACAATCTTCCTAGACTCTCTGATCATCCTCT		 tcct|AGAC
distance from splice site 362
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      209VILISLTIFLDCLIILFSYILILN
mutated  not conserved    209VILISLTIFLDSLIILFSYILIL
Ptroglodytes  not conserved  ENSPTRG00000032555  209VILISLTIFLDSLIILFSYILIL
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  not conserved  ENSXETG00000016607  213LVIILSTVTLDAILIFISYVLIM
protein features
start (aa)end (aa)featuredetails 
195215TRANSMEMHelical; Name=5; (Potential).lost
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 994 / 994
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 56 / 56
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 626
cDNA position
(for ins/del: last normal base / first normal base)		 681
gDNA position
(for ins/del: last normal base / first normal base)		 681
chromosomal position
(for ins/del: last normal base / first normal base)		 5344902
original gDNA sequence snippet TTTAACAATCTTCCTAGACTGTCTGATCATCCTCTTCTCCT
altered gDNA sequence snippet TTTAACAATCTTCCTAGACTCTCTGATCATCCTCTTCTCCT
original cDNA sequence snippet TTTAACAATCTTCCTAGACTGTCTGATCATCCTCTTCTCCT
altered cDNA sequence snippet TTTAACAATCTTCCTAGACTCTCTGATCATCCTCTTCTCCT
wildtype AA sequence MWPNITAAPF LLTGFPGLEA AHHWISIPFF AVYVCILLGN GMLLYLIKHD HSLHEPMYYF
LTMLAGTDLM VTLTTMPTVM GILWVNHREI SSVGCFLQAY FIHSLSVVES GSLLAMAYDC
FIAIRNPLRY ASILTNTRVI ALGVGVFLRG FVSILPVILR LFSFSYCKSH VITRAFCLHQ
EIMRLACADI TFNRLYPVIL ISLTIFLDCL IILFSYILIL NTVIGIASGE ERAKALNTCI
SHISCVLIFY VTVMGLTFIY RFGKNVPEVV HIIMSYIYFL FPPLMNPVIY SIKTKQIQYG
IIRLLSKHRF SS*
mutated AA sequence MWPNITAAPF LLTGFPGLEA AHHWISIPFF AVYVCILLGN GMLLYLIKHD HSLHEPMYYF
LTMLAGTDLM VTLTTMPTVM GILWVNHREI SSVGCFLQAY FIHSLSVVES GSLLAMAYDC
FIAIRNPLRY ASILTNTRVI ALGVGVFLRG FVSILPVILR LFSFSYCKSH VITRAFCLHQ
EIMRLACADI TFNRLYPVIL ISLTIFLDSL IILFSYILIL NTVIGIASGE ERAKALNTCI
SHISCVLIFY VTVMGLTFIY RFGKNVPEVV HIIMSYIYFL FPPLMNPVIY SIKTKQIQYG
IIRLLSKHRF SS*
speed 0.78 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