MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 5 transcript(s)...
Querying Taster for transcript #1: ENST00000391748
Querying Taster for transcript #2: ENST00000314446
Querying Taster for transcript #3: ENST00000391749
Querying Taster for transcript #4: ENST00000391746
Querying Taster for transcript #5: ENST00000434421
MT speed 0 s - this script 4.382014 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
LILRB2	polymorphism_automatic	4.49640324973188e-14	simple_aae		affected		R322H	single base exchange	rs1128646		show file
LILRB2	polymorphism_automatic	4.49640324973188e-14	simple_aae		affected		R322H	single base exchange	rs1128646		show file
LILRB2	polymorphism_automatic	4.49640324973188e-14	simple_aae		affected		R322H	single base exchange	rs1128646		show file
LILRB2	polymorphism_automatic	4.49640324973188e-14	simple_aae		affected		R322H	single base exchange	rs1128646		show file
LILRB2	polymorphism_automatic	7.40518757424979e-14	simple_aae		affected		R206H	single base exchange	rs1128646		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999955 (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

ENST00000391748

Genbank transcript ID

NM_001080978

UniProt peptide

Q8N423

alteration type

single base exchange

alteration region

CDS

DNA changes

c.965G>A
cDNA.1093G>A
g.2633G>A

AA changes

R322H Score: 29 explain score(s)

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

322

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

322

mutated

not conserved

322

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
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

1794 / 1794

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

598 / 598

position of stopcodon in wt / mu cDNA

1922 / 1922

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

129 / 129

chromosome

strand

-1

last intron/exon boundary

1776

theoretical NMD boundary in CDS

1597

length of CDS

1794

coding sequence (CDS) position

965

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

1093

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

MTPIVTVLIC LGLSLGPRTH VQTGTIPKPT LWAEPDSVIT QGSPVTLSCQ GSLEAQEYRL
YREKKSASWI TRIRPELVKN GQFHIPSITW EHTGRYGCQY YSRARWSELS DPLVLVMTGA
YPKPTLSAQP SPVVTSGGRV TLQCESQVAF GGFILCKEGE EEHPQCLNSQ PHARGSSRAI
FSVGPVSPNR RWSHRCYGYD LNSPYVWSSP SDLLELLVPG VSKKPSLSVQ PGPVVAPGES
LTLQCVSDVG YDRFVLYKEG ERDLRQLPGR QPQAGLSQAN FTLGPVSRSY GGQYRCYGAH
NLSSECSAPS DPLDILITGQ IRGTPFISVQ PGPTVASGEN VTLLCQSWRQ FHTFLLTKAG
AADAPLRLRS IHEYPKYQAE FPMSPVTSAH AGTYRCYGSL NSDPYLLSHP SEPLELVVSG
PSMGSSPPPT GPISTPGPED QPLTPTGSDP QSGLGRHLGV VIGILVAVVL LLLLLLLLFL
ILRHRRQGKH WTSTQRKADF QHPAGAVGPE PTDRGLQWRS SPAADAQEEN LYAAVKDTQP
EDGVEMDTRA AASEAPQDVT YAQLHSLTLR RKATEPPPSQ EREPPAEPSI YATLAIH*

mutated AA sequence

MTPIVTVLIC LGLSLGPRTH VQTGTIPKPT LWAEPDSVIT QGSPVTLSCQ GSLEAQEYRL
YREKKSASWI TRIRPELVKN GQFHIPSITW EHTGRYGCQY YSRARWSELS DPLVLVMTGA
YPKPTLSAQP SPVVTSGGRV TLQCESQVAF GGFILCKEGE EEHPQCLNSQ PHARGSSRAI
FSVGPVSPNR RWSHRCYGYD LNSPYVWSSP SDLLELLVPG VSKKPSLSVQ PGPVVAPGES
LTLQCVSDVG YDRFVLYKEG ERDLRQLPGR QPQAGLSQAN FTLGPVSRSY GGQYRCYGAH
NLSSECSAPS DPLDILITGQ IHGTPFISVQ PGPTVASGEN VTLLCQSWRQ FHTFLLTKAG
AADAPLRLRS IHEYPKYQAE FPMSPVTSAH AGTYRCYGSL NSDPYLLSHP SEPLELVVSG
PSMGSSPPPT GPISTPGPED QPLTPTGSDP QSGLGRHLGV VIGILVAVVL LLLLLLLLFL
ILRHRRQGKH WTSTQRKADF QHPAGAVGPE PTDRGLQWRS SPAADAQEEN LYAAVKDTQP
EDGVEMDTRA AASEAPQDVT YAQLHSLTLR RKATEPPPSQ EREPPAEPSI YATLAIH*

speed

0.43 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
back to results table

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999955 (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

ENST00000391749

Genbank transcript ID

NM_005874

UniProt peptide

Q8N423

alteration type

single base exchange

alteration region

CDS

DNA changes

c.965G>A
cDNA.1237G>A
g.2633G>A

AA changes

R322H Score: 29 explain score(s)

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

322

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

322

mutated

not conserved

322

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
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

1797 / 1797

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

599 / 599

position of stopcodon in wt / mu cDNA

2069 / 2069

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

273 / 273

chromosome

strand

-1

last intron/exon boundary

1923

theoretical NMD boundary in CDS

1600

length of CDS

1797

coding sequence (CDS) position

965

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

1237

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

MTPIVTVLIC LGLSLGPRTH VQTGTIPKPT LWAEPDSVIT QGSPVTLSCQ GSLEAQEYRL
YREKKSASWI TRIRPELVKN GQFHIPSITW EHTGRYGCQY YSRARWSELS DPLVLVMTGA
YPKPTLSAQP SPVVTSGGRV TLQCESQVAF GGFILCKEGE EEHPQCLNSQ PHARGSSRAI
FSVGPVSPNR RWSHRCYGYD LNSPYVWSSP SDLLELLVPG VSKKPSLSVQ PGPVVAPGES
LTLQCVSDVG YDRFVLYKEG ERDLRQLPGR QPQAGLSQAN FTLGPVSRSY GGQYRCYGAH
NLSSECSAPS DPLDILITGQ IRGTPFISVQ PGPTVASGEN VTLLCQSWRQ FHTFLLTKAG
AADAPLRLRS IHEYPKYQAE FPMSPVTSAH AGTYRCYGSL NSDPYLLSHP SEPLELVVSG
PSMGSSPPPT GPISTPAGPE DQPLTPTGSD PQSGLGRHLG VVIGILVAVV LLLLLLLLLF
LILRHRRQGK HWTSTQRKAD FQHPAGAVGP EPTDRGLQWR SSPAADAQEE NLYAAVKDTQ
PEDGVEMDTR AAASEAPQDV TYAQLHSLTL RRKATEPPPS QEREPPAEPS IYATLAIH*

mutated AA sequence

MTPIVTVLIC LGLSLGPRTH VQTGTIPKPT LWAEPDSVIT QGSPVTLSCQ GSLEAQEYRL
YREKKSASWI TRIRPELVKN GQFHIPSITW EHTGRYGCQY YSRARWSELS DPLVLVMTGA
YPKPTLSAQP SPVVTSGGRV TLQCESQVAF GGFILCKEGE EEHPQCLNSQ PHARGSSRAI
FSVGPVSPNR RWSHRCYGYD LNSPYVWSSP SDLLELLVPG VSKKPSLSVQ PGPVVAPGES
LTLQCVSDVG YDRFVLYKEG ERDLRQLPGR QPQAGLSQAN FTLGPVSRSY GGQYRCYGAH
NLSSECSAPS DPLDILITGQ IHGTPFISVQ PGPTVASGEN VTLLCQSWRQ FHTFLLTKAG
AADAPLRLRS IHEYPKYQAE FPMSPVTSAH AGTYRCYGSL NSDPYLLSHP SEPLELVVSG
PSMGSSPPPT GPISTPAGPE DQPLTPTGSD PQSGLGRHLG VVIGILVAVV LLLLLLLLLF
LILRHRRQGK HWTSTQRKAD FQHPAGAVGP EPTDRGLQWR SSPAADAQEE NLYAAVKDTQ
PEDGVEMDTR AAASEAPQDV TYAQLHSLTL RRKATEPPPS QEREPPAEPS IYATLAIH*

speed

0.77 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999955 (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

ENST00000314446

Genbank transcript ID

N/A

UniProt peptide

Q8N423

alteration type

single base exchange

alteration region

CDS

DNA changes

c.965G>A
cDNA.1237G>A
g.2633G>A

AA changes

R322H Score: 29 explain score(s)

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

322

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

322

mutated

not conserved

322

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
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

1794 / 1794

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

598 / 598

position of stopcodon in wt / mu cDNA

2066 / 2066

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

273 / 273

chromosome

strand

-1

last intron/exon boundary

1920

theoretical NMD boundary in CDS

1597

length of CDS

1794

coding sequence (CDS) position

965

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

1237

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

mutated AA sequence

MTPIVTVLIC LGLSLGPRTH VQTGTIPKPT LWAEPDSVIT QGSPVTLSCQ GSLEAQEYRL
YREKKSASWI TRIRPELVKN GQFHIPSITW EHTGRYGCQY YSRARWSELS DPLVLVMTGA
YPKPTLSAQP SPVVTSGGRV TLQCESQVAF GGFILCKEGE EEHPQCLNSQ PHARGSSRAI
FSVGPVSPNR RWSHRCYGYD LNSPYVWSSP SDLLELLVPG VSKKPSLSVQ PGPVVAPGES
LTLQCVSDVG YDRFVLYKEG ERDLRQLPGR QPQAGLSQAN FTLGPVSRSY GGQYRCYGAH
NLSSECSAPS DPLDILITGQ IHGTPFISVQ PGPTVASGEN VTLLCQSWRQ FHTFLLTKAG
AADAPLRLRS IHEYPKYQAE FPMSPVTSAH AGTYRCYGSL NSDPYLLSHP SEPLELVVSG
PSMGSSPPPT GPISTPGPED QPLTPTGSDP QSGLGRHLGV VIGILVAVVL LLLLLLLLFL
ILRHRRQGKH WTSTQRKADF QHPAGAVGPE PTDRGLQWRS SPAADAQEEN LYAAVKDTQP
EDGVEMDTRA AASEAPQDVT YAQLHSLTLR RKATEPPPSQ EREPPAEPSI YATLAIH*

speed

0.44 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999955 (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

ENST00000391746

Genbank transcript ID

N/A

UniProt peptide

Q8N423

alteration type

single base exchange

alteration region

CDS

DNA changes

c.965G>A
cDNA.967G>A
g.2633G>A

AA changes

R322H Score: 29 explain score(s)

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

322

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

322

mutated

not conserved

322

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
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

1533 / 1533

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

511 / 511

position of stopcodon in wt / mu cDNA

1535 / 1535

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

1577

theoretical NMD boundary in CDS

1524

length of CDS

1533

coding sequence (CDS) position

965

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

967

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

MTPIVTVLIC LGLSLGPRTH VQTGTIPKPT LWAEPDSVIT QGSPVTLSCQ GSLEAQEYRL
YREKKSASWI TRIRPELVKN GQFHIPSITW EHTGRYGCQY YSRARWSELS DPLVLVMTGA
YPKPTLSAQP SPVVTSGGRV TLQCESQVAF GGFILCKEGE EEHPQCLNSQ PHARGSSRAI
FSVGPVSPNR RWSHRCYGYD LNSPYVWSSP SDLLELLVPG VSKKPSLSVQ PGPVVAPGES
LTLQCVSDVG YDRFVLYKEG ERDLRQLPGR QPQAGLSQAN FTLGPVSRSY GGQYRCYGAH
NLSSECSAPS DPLDILITGQ IRGTPFISVQ PGPTVASGEN VTLLCQSWRQ FHTFLLTKAG
AADAPLRLRS IHEYPKYQAE FPMSPVTSAH AGTYRCYGSL NSDPYLLSHP SEPLELVVSG
PSMGSSPPPT GPISTPAGPE DQPLTPTGSD PQSGLGRHLG VVIGILVAVV LLLLLLLLLF
LILRHRRQGK HWTSSPAQLP TPRKKTSMLP *

mutated AA sequence

MTPIVTVLIC LGLSLGPRTH VQTGTIPKPT LWAEPDSVIT QGSPVTLSCQ GSLEAQEYRL
YREKKSASWI TRIRPELVKN GQFHIPSITW EHTGRYGCQY YSRARWSELS DPLVLVMTGA
YPKPTLSAQP SPVVTSGGRV TLQCESQVAF GGFILCKEGE EEHPQCLNSQ PHARGSSRAI
FSVGPVSPNR RWSHRCYGYD LNSPYVWSSP SDLLELLVPG VSKKPSLSVQ PGPVVAPGES
LTLQCVSDVG YDRFVLYKEG ERDLRQLPGR QPQAGLSQAN FTLGPVSRSY GGQYRCYGAH
NLSSECSAPS DPLDILITGQ IHGTPFISVQ PGPTVASGEN VTLLCQSWRQ FHTFLLTKAG
AADAPLRLRS IHEYPKYQAE FPMSPVTSAH AGTYRCYGSL NSDPYLLSHP SEPLELVVSG
PSMGSSPPPT GPISTPAGPE DQPLTPTGSD PQSGLGRHLG VVIGILVAVV LLLLLLLLLF
LILRHRRQGK HWTSSPAQLP TPRKKTSMLP *

speed

0.42 s

mutation t@sting

documentation

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

1.04 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems