Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999994 (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) chr19:54726324G>CN/A show variant in all transcripts   IGV
HGNC symbol LILRB3
Ensembl transcript ID ENST00000245620
Genbank transcript ID NM_001081450
UniProt peptide O75022
alteration type single base exchange
alteration region CDS
DNA changes c.181C>G
cDNA.183C>G
g.20279C>G
AA changes H61D Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 61
frameshift no
known variant Reference ID: rs79304773
Allele 'C' was neither found in ExAC nor 1000G.
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0760
-5.0850
(flanking)0.2940.002
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained202780.80mu: CGACTGGATAAAGAG ACTG|gata
distance from splice site 111
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      61QGSQEAQEYRLHKEGSPEPLDRNN
mutated  not conserved    61DKEGSPEPLDRN
Ptroglodytes  all conserved  ENSPTRG00000011451  61YKEGSTEPWDKT
Mmulatta  not conserved  ENSMMUG00000021880  61DKEGSTEPWDTQ
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
6161CONFLICTH -> D (in Ref. 1; AAB68668 and 2; AAB87667).lost
9898DISULFIDBy similarity.might get lost (downstream of altered splice site)
111229DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
115115CONFLICTM -> L (in Ref. 1; AAB68668 and 2; AAB87667).might get lost (downstream of altered splice site)
120120CONFLICTA -> F (in Ref. 1; AAB68668).might get lost (downstream of altered splice site)
139139CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
144144DISULFIDBy similarity.might get lost (downstream of altered splice site)
149149CONFLICTG -> R (in Ref. 2; AAB87667).might get lost (downstream of altered splice site)
175175CONFLICTR -> G (in Ref. 1; AAB68668 and 2; AAB87667).might get lost (downstream of altered splice site)
187187CONFLICTT -> N (in Ref. 1; AAB68668, 2; AAB87667 and 3; AAP30716).might get lost (downstream of altered splice site)
196196DISULFIDBy similarity.might get lost (downstream of altered splice site)
201201CONFLICTT -> M (in Ref. 1; AAB68668 and 2; AAB87667).might get lost (downstream of altered splice site)
205205CONFLICTW -> R (in Ref. 2; AAB87667).might get lost (downstream of altered splice site)
225314DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
245245DISULFIDPotential.might get lost (downstream of altered splice site)
252252CONFLICTN -> D (in Ref. 1; AAB68668 and 2; AAB87667).might get lost (downstream of altered splice site)
263263CONFLICTD -> A (in Ref. 3; AAP30716).might get lost (downstream of altered splice site)
268268CONFLICTP -> S (in Ref. 3; AAP30716).might get lost (downstream of altered splice site)
280280CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
290290CONFLICTN -> H (in Ref. 1; AAB68668).might get lost (downstream of altered splice site)
296296DISULFIDPotential.might get lost (downstream of altered splice site)
301301CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
338419DOMAINIg-like C2-type 4.might get lost (downstream of altered splice site)
340340CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
345345DISULFIDPotential.might get lost (downstream of altered splice site)
396396DISULFIDPotential.might get lost (downstream of altered splice site)
409409CONFLICTH -> F (in Ref. 1; AAB68668).might get lost (downstream of altered splice site)
417417CONFLICTV -> M (in Ref. 1; AAB68668).might get lost (downstream of altered splice site)
444464TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
465631TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
480480MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
512517MOTIFITIM motif 1.might get lost (downstream of altered splice site)
525525CONFLICTR -> G (in Ref. 2; AAB87667).might get lost (downstream of altered splice site)
561561CONFLICTS -> P (in Ref. 2; AAB87667).might get lost (downstream of altered splice site)
593598MOTIFITIM motif 2.might get lost (downstream of altered splice site)
595595MOD_RESPhosphotyrosine; by LYN (By similarity).might get lost (downstream of altered splice site)
623628MOTIFITIM motif 3.might get lost (downstream of altered splice site)
625625MOD_RESPhosphotyrosine; by LYN (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1899 / 1899
position (AA) of stopcodon in wt / mu AA sequence 633 / 633
position of stopcodon in wt / mu cDNA 1901 / 1901
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 181
cDNA position
(for ins/del: last normal base / first normal base)		 183
gDNA position
(for ins/del: last normal base / first normal base)		 20279
chromosomal position
(for ins/del: last normal base / first normal base)		 54726324
original gDNA sequence snippet AGGCCCAGGAGTACCGACTGCATAAAGAGGGAAGCCCAGAG
altered gDNA sequence snippet AGGCCCAGGAGTACCGACTGGATAAAGAGGGAAGCCCAGAG
original cDNA sequence snippet AGGCCCAGGAGTACCGACTGCATAAAGAGGGAAGCCCAGAG
altered cDNA sequence snippet AGGCCCAGGAGTACCGACTGGATAAAGAGGGAAGCCCAGAG
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 QQSPHDEDPQ
AVTYAPVKHS SPRREMASPP SSLSGEFLDT KDRQVEEDRQ MDTEAAASEA SQDVTYAQLH
SLTLRRKATE PPPSQEGEPP AEPSIYATLA IH*
mutated AA sequence MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSQEAQEYRL
DKEGSPEPLD 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 QQSPHDEDPQ
AVTYAPVKHS SPRREMASPP SSLSGEFLDT KDRQVEEDRQ MDTEAAASEA SQDVTYAQLH
SLTLRRKATE PPPSQEGEPP AEPSIYATLA IH*
speed 0.99 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