mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999901474415 (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)

chr19:54725156T>CN/A show variant in all transcripts IGV

HGNC symbol

LILRA6

Ensembl transcript ID

ENST00000419410

Genbank transcript ID

N/A

UniProt peptide

Q6PI73

alteration type

single base exchange

alteration region

intron

DNA changes

g.21975A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs181211220

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1606	598	2204
ExAC	10446	1148	11594

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.364	0.005
	0.137	0.005
(flanking)	-0.023	0.005

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	21979	wt: 0.2582 / mu: 0.2713 (marginal change - not scored)	wt: CTCTGATGTCGGCTACAACAGATTTGTTCTGTATAAGGAGG mu: CTCTGATGTCGGCTACGACAGATTTGTTCTGTATAAGGAGG	acag\|ATTT
Donor gained	21969	0.96	mu: ATGTCGGCTACGACA	GTCG\|gcta

distance from splice site

2042

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
24	447	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
448	468	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
469	481	TOPO_DOM	Cytoplasmic (Potential).	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

1755

theoretical NMD boundary in CDS

1702

length of CDS

1899

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)

21975

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

54725156

original gDNA sequence snippet

GTGGCTCTGATGTCGGCTACAACAGATTTGTTCTGTATAAG

altered gDNA sequence snippet

GTGGCTCTGATGTCGGCTACGACAGATTTGTTCTGTATAAG

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 DPLELVMTGF
YNKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSGGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPRVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YDRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSH GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSRGY FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSY SSNPHLLSFP SEPLELMVSG
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

N/A

speed

0.95 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