mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999994963385609 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:54726347T>AN/A show variant in all transcripts IGV

HGNC symbol

LILRA6

Ensembl transcript ID

ENST00000391735

Genbank transcript ID

N/A

UniProt peptide

Q6PI73

alteration type

single base exchange

alteration region

intron

DNA changes

g.20784A>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs76998994

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	21199	-9631	11568

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.037	0.002
	-0.94	0
(flanking)	0.009	0

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

splice sites

splice site change occurs after stopcodon (at aa 408)

effect	gDNA position	score	detection sequence	exon-intron border
Acc increased	20775	wt: 0.29 / mu: 0.37	wt: CCCCGTGACCATCTGGTGTCAGGGGAGCCAGGAGGCCCAGG mu: CCCCGTGACCATCTGGTGTCAGGGGAGCCTGGAGGCCCAGG	gtca\|GGGG
Donor marginally increased	20775	wt: 0.9949 / mu: 0.9949 (marginal change - not scored)	wt: GTGTCAGGGGAGCCA mu: GTGTCAGGGGAGCCT	GTCA\|gggg
Donor marginally increased	20782	wt: 0.6004 / mu: 0.6172 (marginal change - not scored)	wt: GGGAGCCAGGAGGCC mu: GGGAGCCTGGAGGCC	GAGC\|cagg

distance from splice site

3233

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)

20784

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

54726347

original gDNA sequence snippet

CATCTGGTGTCAGGGGAGCCAGGAGGCCCAGGAGTACCGAC

altered gDNA sequence snippet

CATCTGGTGTCAGGGGAGCCTGGAGGCCCAGGAGTACCGAC

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

0.75 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