mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999999231 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:55179364A>GN/A show variant in all transcripts IGV

HGNC symbol

LILRB4

Ensembl transcript ID

ENST00000430952

Genbank transcript ID

NM_001081438

UniProt peptide

Q8NHJ6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1238A>G
cDNA.1277A>G
g.24025A>G

AA changes

Q413R Score: 43 explain score(s)

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

413

frameshift

known variant

Reference ID: rs1048801

database	homozygous (G/G)	heterozygous	allele carriers
1000G	363	1162	1525
ExAC	8592	15583	24175

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.365	0.175
	0.247	0.091
(flanking)	-0.933	0.008

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

413

mutated

all conserved

413

Ptroglodytes

not conserved

ENSPTRG00000011468

413

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000003601

603

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)	feature	details
281	448	TOPO_DOM	Cytoplasmic (Potential).	lost
410	415	MOTIF	ITIM motif 2.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1344 / 1344

position (AA) of stopcodon in wt / mu AA sequence

448 / 448

position of stopcodon in wt / mu cDNA

1383 / 1383

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

40 / 40

chromosome

strand

last intron/exon boundary

1237

theoretical NMD boundary in CDS

1147

length of CDS

1344

coding sequence (CDS) position

1238

cDNA position
(for ins/del: last normal base / first normal base)

1277

gDNA position
(for ins/del: last normal base / first normal base)

24025

chromosomal position
(for ins/del: last normal base / first normal base)

55179364

original gDNA sequence snippet

CCAGGATGTGACCTACGCCCAGCTGCACAGCTTTACCCTCA

altered gDNA sequence snippet

CCAGGATGTGACCTACGCCCGGCTGCACAGCTTTACCCTCA

original cDNA sequence snippet

CCAGGATGTGACCTACGCCCAGCTGCACAGCTTTACCCTCA

altered cDNA sequence snippet

CCAGGATGTGACCTACGCCCGGCTGCACAGCTTTACCCTCA

wildtype AA sequence

MIPTFTALLC LGLSLGPRTH MQAGPLPKPT LWAEPGSVIS WGNSVTIWCQ GTLEAREYRL
DKEESPAPWD RQNPLEPKNK ARFSIPSMTE DYAGRYRCYY RSPVGWSQPS DPLELVMTGA
YSKPTLSALP SPLVTSGKSV TLLCQSRSPM DTFLLIKERA AHPLLHLRSE HGAQQHQAEF
PMSPVTSVHG GTYRCFSSHG FSHYLLSHPS DPLELIVSGS LEDPRPSPTR SVSTAAGPED
QPLMPTGSVP HSGLRRHWEV LIGVLVVSIL LLSLLLFLLL QHWRQGKHRT LAQRQADFQR
PPGAAEPEPK DGGLQRRSSP AADVQGENFC AAVKNTQPED GVEMDTRSPH DEDPQAVTYA
KVKHSRPRRE MASPPSPLSG EFLDTKDRQA EEDRQMDTEA AASEAPQDVT YAQLHSFTLR
QKATEPPPSQ EGASPAEPSV YATLAIH*

mutated AA sequence

speed

1.33 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