Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999986 (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) chr19:54726299A>CN/A show variant in all transcripts   IGV
HGNC symbol LILRB3
Ensembl transcript ID ENST00000391750
Genbank transcript ID N/A
UniProt peptide O75022
alteration type single base exchange
alteration region CDS
DNA changes c.206T>G
cDNA.343T>G
g.20304T>G
AA changes L69W Score: 61 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 69
frameshift no
known variant Reference ID: rs80077296
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC98851299722882
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0230.001
-0.1220
(flanking)-0.6310
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 increased20307wt: 0.8044 / mu: 0.8256 (marginal change - not scored)wt: CTTGGACAGAAATAA
mu: CTGGGACAGAAATAA		 TGGA|caga
Donor marginally increased20309wt: 0.8732 / mu: 0.8738 (marginal change - not scored)wt: TGGACAGAAATAACC
mu: GGGACAGAAATAACC		 GACA|gaaa
distance from splice site 136
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      69YRLHKEGSPEPLDRNNPLEPKNKA
mutated  not conserved    69HKEGSPEPWDRNNPLEPKNK
Ptroglodytes  not conserved  ENSPTRG00000011451  69YKEGSTEPWDKTNPLETRNK
Mmulatta  not conserved  ENSMMUG00000021880  69DKEGSTEPWDTQKPLEPRNK
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 
24443TOPO_DOMExtracellular (Potential).lost
42100DOMAINIg-like C2-type 1.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1896 / 1896
position (AA) of stopcodon in wt / mu AA sequence 632 / 632
position of stopcodon in wt / mu cDNA 2033 / 2033
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 138 / 138
chromosome 19
strand -1
last intron/exon boundary 1887
theoretical NMD boundary in CDS 1699
length of CDS 1896
coding sequence (CDS) position 206
cDNA position
(for ins/del: last normal base / first normal base)		 343
gDNA position
(for ins/del: last normal base / first normal base)		 20304
chromosomal position
(for ins/del: last normal base / first normal base)		 54726299
original gDNA sequence snippet AGAGGGAAGCCCAGAGCCCTTGGACAGAAATAACCCACTGG
altered gDNA sequence snippet AGAGGGAAGCCCAGAGCCCTGGGACAGAAATAACCCACTGG
original cDNA sequence snippet AGAGGGAAGCCCAGAGCCCTTGGACAGAAATAACCCACTGG
altered cDNA sequence snippet AGAGGGAAGCCCAGAGCCCTGGGACAGAAATAACCCACTGG
wildtype AA sequence MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSQEAQEYRL
HKEGSPEPLD RNNPLEPKNK ARFSIPSMTE HHAGRYRCHY YSSAGWSEPS DPLEMVMTGA
YSKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSRGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPWVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YNRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSN GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSWWQ FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSY SSNPHLLSHP SEPLELVVSG
HSGGSSLPPT GPPSTPGLGR YLEVLIGVSV AFVLLLFLLL FLLLRRQRHS KHRTSDQRKT
DFQRPAGAAE TEPKDRGLLR RSSPAADVQE ENLYAAVKDT QSEDRVELDS QSPHDEDPQA
VTYAPVKHSS PRREMASPPS SLSGEFLDTK DRQVEEDRQM DTEAAASEAS QDVTYAQLHS
LTLRRKATEP PPSQEGEPPA EPSIYATLAI H*
mutated AA sequence MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSQEAQEYRL
HKEGSPEPWD RNNPLEPKNK ARFSIPSMTE HHAGRYRCHY YSSAGWSEPS DPLEMVMTGA
YSKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSRGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPWVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YNRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSN GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSWWQ FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSY SSNPHLLSHP SEPLELVVSG
HSGGSSLPPT GPPSTPGLGR YLEVLIGVSV AFVLLLFLLL FLLLRRQRHS KHRTSDQRKT
DFQRPAGAAE TEPKDRGLLR RSSPAADVQE ENLYAAVKDT QSEDRVELDS QSPHDEDPQA
VTYAPVKHSS PRREMASPPS SLSGEFLDTK DRQVEEDRQM DTEAAASEAS QDVTYAQLHS
LTLRRKATEP PPSQEGEPPA EPSIYATLAI H*
speed 1.31 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