mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999911708354 (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)

chr19:54726324G>CN/A show variant in all transcripts IGV

HGNC symbol

LILRB3

Ensembl transcript ID

ENST00000407860

Genbank transcript ID

N/A

UniProt peptide

O75022

alteration type

single base exchange

alteration region

intron

DNA changes

g.20279C>G

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

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

	PhyloP	PhastCons
(flanking)	-0.076	0
	-5.085	0
(flanking)	0.294	0.002

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor gained	20278	0.80	mu: CGACTGGATAAAGAG	ACTG\|gata

distance from splice site

322

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
24	443	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
111	229	DOMAIN	Ig-like C2-type 2.	might get lost (downstream of altered splice site)
120	120	CONFLICT	A -> F (in Ref. 1; AAB68668).	might get lost (downstream of altered splice site)
139	139	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
144	144	DISULFID	By similarity.	might get lost (downstream of altered splice site)
149	149	CONFLICT	G -> R (in Ref. 2; AAB87667).	might get lost (downstream of altered splice site)
175	175	CONFLICT	R -> G (in Ref. 1; AAB68668 and 2; AAB87667).	might get lost (downstream of altered splice site)
187	187	CONFLICT	T -> N (in Ref. 1; AAB68668, 2; AAB87667 and 3; AAP30716).	might get lost (downstream of altered splice site)
196	196	DISULFID	By similarity.	might get lost (downstream of altered splice site)
201	201	CONFLICT	T -> M (in Ref. 1; AAB68668 and 2; AAB87667).	might get lost (downstream of altered splice site)
205	205	CONFLICT	W -> R (in Ref. 2; AAB87667).	might get lost (downstream of altered splice site)
225	314	DOMAIN	Ig-like C2-type 3.	might get lost (downstream of altered splice site)
245	245	DISULFID	Potential.	might get lost (downstream of altered splice site)
252	252	CONFLICT	N -> D (in Ref. 1; AAB68668 and 2; AAB87667).	might get lost (downstream of altered splice site)
263	263	CONFLICT	D -> A (in Ref. 3; AAP30716).	might get lost (downstream of altered splice site)
268	268	CONFLICT	P -> S (in Ref. 3; AAP30716).	might get lost (downstream of altered splice site)
280	280	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
290	290	CONFLICT	N -> H (in Ref. 1; AAB68668).	might get lost (downstream of altered splice site)
296	296	DISULFID	Potential.	might get lost (downstream of altered splice site)
301	301	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
338	419	DOMAIN	Ig-like C2-type 4.	might get lost (downstream of altered splice site)
340	340	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
345	345	DISULFID	Potential.	might get lost (downstream of altered splice site)
396	396	DISULFID	Potential.	might get lost (downstream of altered splice site)
409	409	CONFLICT	H -> F (in Ref. 1; AAB68668).	might get lost (downstream of altered splice site)
417	417	CONFLICT	V -> M (in Ref. 1; AAB68668).	might get lost (downstream of altered splice site)
444	464	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
465	631	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
480	480	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
512	517	MOTIF	ITIM motif 1.	might get lost (downstream of altered splice site)
525	525	CONFLICT	R -> G (in Ref. 2; AAB87667).	might get lost (downstream of altered splice site)
561	561	CONFLICT	S -> P (in Ref. 2; AAB87667).	might get lost (downstream of altered splice site)
593	598	MOTIF	ITIM motif 2.	might get lost (downstream of altered splice site)
595	595	MOD_RES	Phosphotyrosine; by LYN (By similarity).	might get lost (downstream of altered splice site)
623	628	MOTIF	ITIM motif 3.	might get lost (downstream of altered splice site)
625	625	MOD_RES	Phosphotyrosine; by LYN (By similarity).	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

strand

-1

last intron/exon boundary

1803

theoretical NMD boundary in CDS

1750

length of CDS

1947

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)

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

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSLEAQEYQL
DKEGSPEPLD RNNPLEPKNK ARFSIPSMTQ HHAGRYRCHY YSSAGWSEPS DPLELVMTGA
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 GPPSTPGGPE DQPLNPPGSG PQNRLGRYLE VLIGVSVAFV LLLFLLLFLL
LRRQRHSKHR TSDQRKTDFQ RPAGAAETEP KDRGLLRRSS PAADVQEENL YAAVKDTQSE
DRVELDSQSP HDEDPQAVTY APVKHSSPRR EMASPPSSLS GEFLDTKDRQ VEEDRQMDTE
AAASEASQDV TYAQLHSLTL RRKATEPPPS QEGEPPAEPS IYATLAIH*

mutated AA sequence

N/A

speed

0.77 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