mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999926 (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)

chr19:54782407C>TN/A show variant in all transcripts IGV

HGNC symbol

LILRB2

Ensembl transcript ID

ENST00000434421

Genbank transcript ID

N/A

UniProt peptide

Q8N423

alteration type

single base exchange

alteration region

CDS

DNA changes

c.617G>A
cDNA.1058G>A
g.2633G>A

AA changes

R206H Score: 29 explain score(s)

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

206

frameshift

known variant

Reference ID: rs1128646

database	homozygous (T/T)	heterozygous	allele carriers
1000G	335	946	1281
ExAC	14384	3999	18383

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.577	0
	-1.86	0
(flanking)	-0.037	0

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
Acc marginally increased	2623	wt: 0.9950 / mu: 0.9951 (marginal change - not scored)	wt: ACCCATCCTTCTTCTCTCCAGGACAGATCCGTGGCACACCC mu: ACCCATCCTTCTTCTCTCCAGGACAGATCCATGGCACACCC	ccag\|GACA
Donor gained	2634	0.51	mu: ATCCATGGCACACCC	CCAT\|ggca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

206

mutated

not conserved

206

Ptroglodytes

not conserved

ENSPTRG00000011453

322

Mmulatta

no homologue

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)	feature	details
22	461	TOPO_DOM	Extracellular (Potential).	lost
111	229	DOMAIN	Ig-like C2-type 2.	lost
230	318	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)
280	280	CARBOHYD	N-linked (GlcNAc...) (Potential).	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)
330	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)
462	482	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
483	598	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
531	536	MOTIF	ITIM motif 1.	might get lost (downstream of altered splice site)
560	565	MOTIF	ITIM motif 2.	might get lost (downstream of altered splice site)
583	583	CONFLICT	R -> G (in Ref. 4; AAH36827).	might get lost (downstream of altered splice site)
590	595	MOTIF	ITIM motif 3.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1449 / 1449

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

483 / 483

position of stopcodon in wt / mu cDNA

1890 / 1890

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

442 / 442

chromosome

strand

-1

last intron/exon boundary

1744

theoretical NMD boundary in CDS

1252

length of CDS

1449

coding sequence (CDS) position

617

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

1058

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

2633

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

54782407

original gDNA sequence snippet

CTTCTCTCCAGGACAGATCCGTGGCACACCCTTCATCTCAG

altered gDNA sequence snippet

CTTCTCTCCAGGACAGATCCATGGCACACCCTTCATCTCAG

original cDNA sequence snippet

CCTGATCACAGGACAGATCCGTGGCACACCCTTCATCTCAG

altered cDNA sequence snippet

CCTGATCACAGGACAGATCCATGGCACACCCTTCATCTCAG

wildtype AA sequence

MTGAYPKPTL SAQPSPVVTS GGRVTLQCES QVAFGGFILC KEGEEEHPQC LNSQPHARGS
SRAIFSVGPV SPNRRWSHRC YGYDLNSPYV WSSPSDLLEL LVPGVSKKPS LSVQPGPVVA
PGESLTLQCV SDVGYDRFVL YKEGERDLRQ LPGRQPQAGL SQANFTLGPV SRSYGGQYRC
YGAHNLSSEC SAPSDPLDIL ITGQIRGTPF ISVQPGPTVA SGENVTLLCQ SWRQFHTFLL
TKAGAADAPL RLRSIHEYPK YQAEFPMSPV TSAHAGTYRC YGSLNSDPYL LSHPSEPLEL
VVSGPSMGSS PPPTGPISTP AGPEDQPLTP TGSDPQSGLG RHLGVVIGIL VAVVLLLLLL
LLLFLILRHR RQGKHWTSTQ RKADFQHPAG AVGPEPTDRG LQWRSSPAAD AQEENLYAAV
KDTQPEDGVE MDTRAAASEA PQDVTYAQLH SLTLRRKATE PPPSQEREPP AEPSIYATLA
IH*

mutated AA sequence

MTGAYPKPTL SAQPSPVVTS GGRVTLQCES QVAFGGFILC KEGEEEHPQC LNSQPHARGS
SRAIFSVGPV SPNRRWSHRC YGYDLNSPYV WSSPSDLLEL LVPGVSKKPS LSVQPGPVVA
PGESLTLQCV SDVGYDRFVL YKEGERDLRQ LPGRQPQAGL SQANFTLGPV SRSYGGQYRC
YGAHNLSSEC SAPSDPLDIL ITGQIHGTPF ISVQPGPTVA SGENVTLLCQ SWRQFHTFLL
TKAGAADAPL RLRSIHEYPK YQAEFPMSPV TSAHAGTYRC YGSLNSDPYL LSHPSEPLEL
VVSGPSMGSS PPPTGPISTP AGPEDQPLTP TGSDPQSGLG RHLGVVIGIL VAVVLLLLLL
LLLFLILRHR RQGKHWTSTQ RKADFQHPAG AVGPEPTDRG LQWRSSPAAD AQEENLYAAV
KDTQPEDGVE MDTRAAASEA PQDVTYAQLH SLTLRRKATE PPPSQEREPP AEPSIYATLA
IH*

speed

0.90 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