Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.00323947977828479 (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
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:5510688T>CN/A show variant in all transcripts   IGV
HGNC symbol OR52D1
Ensembl transcript ID ENST00000322641
Genbank transcript ID NM_001005163
UniProt peptide Q9H346
alteration type single base exchange
alteration region CDS
DNA changes c.752T>C
cDNA.774T>C
g.774T>C
AA changes I251T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 251
frameshift no
known variant Reference ID: rs7101919
databasehomozygous (C/C)heterozygousallele carriers
1000G101571672
ExAC47972208926886
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.2460.989
4.8360.989
(flanking)-0.5570.001
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 increased767wt: 0.7180 / mu: 0.7277 (marginal change - not scored)wt: GTACCTGTGGCTCCCACATTGGCATCATCCTGGTTTTCTAC
mu: GTACCTGTGGCTCCCACATTGGCATCACCCTGGTTTTCTAC		 attg|GCAT
distance from splice site 292
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      251ALSTCGSHIGIILVFYIPAFFSFL
mutated  not conserved    251LSTCGSHIGITLVFYIPAFFSF
Ptroglodytes  all identical  ENSPTRG00000003252  251LSTCGSHIGIILVFYIPAFFSF
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000010729  251LSTCGSHLGVILVFYIPAFFSF
Mmusculus  all identical  ENSMUSG00000073931  245ILVFYIPAFFSF
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 
241261TRANSMEMHelical; Name=6; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 957 / 957
position (AA) of stopcodon in wt / mu AA sequence 319 / 319
position of stopcodon in wt / mu cDNA 979 / 979
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 23 / 23
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 957
coding sequence (CDS) position 752
cDNA position
(for ins/del: last normal base / first normal base)		 774
gDNA position
(for ins/del: last normal base / first normal base)		 774
chromosomal position
(for ins/del: last normal base / first normal base)		 5510688
original gDNA sequence snippet TGGCTCCCACATTGGCATCATCCTGGTTTTCTACATCCCTG
altered gDNA sequence snippet TGGCTCCCACATTGGCATCACCCTGGTTTTCTACATCCCTG
original cDNA sequence snippet TGGCTCCCACATTGGCATCATCCTGGTTTTCTACATCCCTG
altered cDNA sequence snippet TGGCTCCCACATTGGCATCACCCTGGTTTTCTACATCCCTG
wildtype AA sequence MSDSNLSDNH LPDTFFLTGI PGLEAAHFWI AIPFCAMYLV ALVGNAALIL VIAMDNALHA
PMYLFLCLLS LTDLALSSTT VPKMLAILWL HAGEISFGGC LAQMFCVHSI YALESSILLA
MAFDRYVAIC NPLRYTTILN HAVIGRIGFV GLFRSVAIVS PFIFLLRRLP YCGHRVMTHT
YCEHMGIARL ACANITVNIV YGLTVALLAM GLDSILIAIS YGFILHAVFH LPSHDAQHKA
LSTCGSHIGI ILVFYIPAFF SFLTHRFGHH EVPKHVHIFL ANLYVLVPPV LNPILYGART
KEIRSRLLKL LHLGKTSI*
mutated AA sequence MSDSNLSDNH LPDTFFLTGI PGLEAAHFWI AIPFCAMYLV ALVGNAALIL VIAMDNALHA
PMYLFLCLLS LTDLALSSTT VPKMLAILWL HAGEISFGGC LAQMFCVHSI YALESSILLA
MAFDRYVAIC NPLRYTTILN HAVIGRIGFV GLFRSVAIVS PFIFLLRRLP YCGHRVMTHT
YCEHMGIARL ACANITVNIV YGLTVALLAM GLDSILIAIS YGFILHAVFH LPSHDAQHKA
LSTCGSHIGI TLVFYIPAFF SFLTHRFGHH EVPKHVHIFL ANLYVLVPPV LNPILYGART
KEIRSRLLKL LHLGKTSI*
speed 1.04 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