mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999924682804 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:54726299A>CN/A show variant in all transcripts IGV

HGNC symbol

LILRA6

Ensembl transcript ID

ENST00000391735

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.20832T>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs80077296

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	9885	12997	22882

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.023	0.001
	-0.122	0
(flanking)	-0.631	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
Donor marginally increased	20835	wt: 0.8044 / mu: 0.8256 (marginal change - not scored)	wt: CTTGGACAGAAATAA mu: CTGGGACAGAAATAA	TGGA\|caga
Donor marginally increased	20837	wt: 0.8732 / mu: 0.8738 (marginal change - not scored)	wt: TGGACAGAAATAACC mu: GGGACAGAAATAACC	GACA\|gaaa

distance from splice site

3185

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

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

1613

theoretical NMD boundary in CDS

1560

length of CDS

582

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)

20832

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

54726299

original gDNA sequence snippet

AGAGGGAAGCCCAGAGCCCTTGGACAGAAATAACCCACTGG

altered gDNA sequence snippet

AGAGGGAAGCCCAGAGCCCTGGGACAGAAATAACCCACTGG

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 RRV*

mutated AA sequence

N/A

speed

0.79 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