Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1 (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) chr19:54746081T>CN/A show variant in all transcripts   IGV
HGNC symbol LILRA6
Ensembl transcript ID ENST00000391735
Genbank transcript ID N/A
UniProt peptide Q6PI73
alteration type single base exchange
alteration region CDS
DNA changes c.176A>G
cDNA.178A>G
g.1050A>G
AA changes Q59R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 59
frameshift no
known variant Reference ID: rs28445220
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC30672663329700
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1850
-1.9580
(flanking)-0.5520
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained10440.33mu: CCAGGAGTACCGACT AGGA|gtac
distance from splice site 106
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      59WCQGSLEAQEYQLDKEGSPEPLDR
mutated  all conserved    59WCQGSLEAQEYRLDKEGSPEPLD
Ptroglodytes  not conserved  ENSPTRG00000011451  59WCQGNLEAQEYCLYKEGSTEPWD
Mmulatta  all conserved  ENSMMUG00000021880  59WCRGTLEAQEYRLDKEGSTEPWD
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 
24447TOPO_DOMExtracellular (Potential).lost
139139CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
225314DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
245245DISULFIDBy similarity.might get lost (downstream of altered splice site)
296296DISULFIDBy similarity.might get lost (downstream of altered splice site)
301301CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
323408DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
340340CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
345345DISULFIDBy similarity.might get lost (downstream of altered splice site)
396396DISULFIDBy similarity.might get lost (downstream of altered splice site)
448468TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
469481TOPO_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 582 / 582
position (AA) of stopcodon in wt / mu AA sequence 194 / 194
position of stopcodon in wt / mu cDNA 584 / 584
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 3 / 3
chromosome 19
strand -1
last intron/exon boundary 1613
theoretical NMD boundary in CDS 1560
length of CDS 582
coding sequence (CDS) position 176
cDNA position
(for ins/del: last normal base / first normal base)		 178
gDNA position
(for ins/del: last normal base / first normal base)		 1050
chromosomal position
(for ins/del: last normal base / first normal base)		 54746081
original gDNA sequence snippet CCTGGAGGCCCAGGAGTACCAACTGGATAAAGAGGGAAGCC
altered gDNA sequence snippet CCTGGAGGCCCAGGAGTACCGACTGGATAAAGAGGGAAGCC
original cDNA sequence snippet CCTGGAGGCCCAGGAGTACCAACTGGATAAAGAGGGAAGCC
altered cDNA sequence snippet CCTGGAGGCCCAGGAGTACCGACTGGATAAAGAGGGAAGCC
wildtype AA sequence MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSLEAQEYQL
DKEGSPEPLD RNNPLEPKNK ARFSIPSMTQ HHAGRYRCHY YSSAGWSEPS DPLELVMTGF
YNKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSGGFQAL
FPVGPVTPSH RRV*
mutated AA sequence MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSLEAQEYRL
DKEGSPEPLD RNNPLEPKNK ARFSIPSMTQ HHAGRYRCHY YSSAGWSEPS DPLELVMTGF
YNKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSGGFQAL
FPVGPVTPSH RRV*
speed 1.37 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