mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999921287655 (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)

chr19:54754989T>GN/A show variant in all transcripts IGV

HGNC symbol

LILRB5

Ensembl transcript ID

ENST00000316219

Genbank transcript ID

NM_006840

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.6179A>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs686335

database	homozygous (G/G)	heterozygous	allele carriers
1000G	477	1073	1550
ExAC	316	3821	4137

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.036	0.006
	-1.008	0.001
(flanking)	0.03	0.001

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	6177	wt: 0.7791 / mu: 0.8382 (marginal change - not scored)	wt: TATGCCGAGGTGAAA mu: TATGCCGCGGTGAAA	TGCC\|gagg
Donor marginally increased	6180	wt: 0.9732 / mu: 0.9733 (marginal change - not scored)	wt: GCCGAGGTGAAACAC mu: GCCGCGGTGAAACAC	CGAG\|gtga

distance from splice site

193

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

109 / 109

chromosome

strand

-1

last intron/exon boundary

1735

theoretical NMD boundary in CDS

1576

length of CDS

1773

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)

6179

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

54754989

original gDNA sequence snippet

CCAGGCAGTGACGTATGCCGAGGTGAAACACTCCAGACCTA

altered gDNA sequence snippet

CCAGGCAGTGACGTATGCCGCGGTGAAACACTCCAGACCTA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MTLTLSVLIC LGLSVGPRTC VQAGTLPKPT LWAEPASVIA RGKPVTLWCQ GPLETEEYRL
DKEGLPWARK RQNPLEPGAK AKFHIPSTVY DSAGRYRCYY ETPAGWSEPS DPLELVATGF
YAEPTLLALP SPVVASGGNV TLQCDTLDGL LTFVLVEEEQ KLPRTLYSQK LPKGPSQALF
PVGPVTPSCR WRFRCYYYYR KNPQVWSNPS DLLEILVPGV SRKPSLLIPQ GSVVARGGSL
TLQCRSDVGY DIFVLYKEGE HDLVQGSGQQ PQAGLSQANF TLGPVSRSHG GQYRCYGAHN
LSPRWSAPSD PLDILIAGLI PDIPALSVQP GPKVASGENV TLLCQSWHQI DTFFLTKEGA
AHPPLCLKSK YQSYRHQAEF SMSPVTSAQG GTYRCYSAIR SYPYLLSSPS YPQELVVSGP
SGDPSLSPTG STPTPGPEDQ PLTPTGLDPQ SGLGRHLGVV TGVSVAFVLL LFLLLFLLLR
HRHQSKHRTS AHFYRPAGAA GPEPKDQGLQ KRASPVADIQ EEILNAAVKD TQPKDGVEMD
ARAAASEAPQ DVTYAQLHSL TLRREATEPP PSQEREPPAE PSIYAPLAIH *

mutated AA sequence

N/A

speed

0.87 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