Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999994963385609 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr19:54726347T>AN/A show variant in all transcripts   IGV
HGNC symbol LILRA6
Ensembl transcript ID ENST00000419410
Genbank transcript ID N/A
UniProt peptide Q6PI73
alteration type single base exchange
alteration region intron
DNA changes g.20784A>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs76998994
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC21199-963111568
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.0370.002
-0.940
(flanking)0.0090
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased20775wt: 0.29 / mu: 0.37wt: CCCCGTGACCATCTGGTGTCAGGGGAGCCAGGAGGCCCAGG
mu: CCCCGTGACCATCTGGTGTCAGGGGAGCCTGGAGGCCCAGG		 gtca|GGGG
Donor marginally increased20775wt: 0.9949 / mu: 0.9949 (marginal change - not scored)wt: GTGTCAGGGGAGCCA
mu: GTGTCAGGGGAGCCT		 GTCA|gggg
Donor marginally increased20782wt: 0.6004 / mu: 0.6172 (marginal change - not scored)wt: GGGAGCCAGGAGGCC
mu: GGGAGCCTGGAGGCC		 GAGC|cagg
distance from splice site 3233
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
24447TOPO_DOMExtracellular (Potential).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 N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 1755
theoretical NMD boundary in CDS 1702
length of CDS 1899
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 20784
chromosomal position
(for ins/del: last normal base / first normal base)		 54726347
original gDNA sequence snippet CATCTGGTGTCAGGGGAGCCAGGAGGCCCAGGAGTACCGAC
altered gDNA sequence snippet CATCTGGTGTCAGGGGAGCCTGGAGGCCCAGGAGTACCGAC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSLEAQEYQL
DKEGSPEPLD RNNPLEPKNK ARFSIPSMTQ HHAGRYRCHY YSSAGWSEPS DPLELVMTGF
YNKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSGGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPRVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YDRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSH GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSRGY FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSY SSNPHLLSFP SEPLELMVSG
HSGGSSLPPT GPPSTPGLGR YLEVLIGVSV AFVLLLFLLL FLLLRRQRHS KHRTSDQRKT
DFQRPAGAAE TEPKDRGLLR RSSPAADVQE ENLYAAVKDT QSEDRVELDS QQSPHDEDPQ
AVTYAPVKHS SPRREMASPP SSLSGEFLDT KDRQVEEDRQ MDTEAAASEA SQDVTYAQLH
SLTLRRKATE PPPSQEGEPP AEPSIYATLA IH*
mutated AA sequence N/A
speed 0.83 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