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 9 transcript(s)...
Querying Taster for transcript #1: ENST00000391750
Querying Taster for transcript #2: ENST00000346401
Querying Taster for transcript #3: ENST00000245620
Querying Taster for transcript #4: ENST00000407860
Querying Taster for transcript #5: ENST00000424807
Querying Taster for transcript #6: ENST00000440558
Querying Taster for transcript #7: ENST00000270464
Querying Taster for transcript #8: ENST00000419410
Querying Taster for transcript #9: ENST00000391735
MT speed 7.57 s - this script 9.328908 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
LILRB3	polymorphism_automatic	3.79696274421804e-14	simple_aae		affected		Y400C	single base exchange	rs1052995		show file
LILRB3	polymorphism_automatic	3.79696274421804e-14	simple_aae		affected		Y400C	single base exchange	rs1052995		show file
LILRB3	polymorphism_automatic	3.79696274421804e-14	simple_aae		affected		Y400C	single base exchange	rs1052995		show file
LILRB3	polymorphism_automatic	3.79696274421804e-14	simple_aae		affected		Y400C	single base exchange	rs1052995		show file
LILRB3	polymorphism_automatic	3.79696274421804e-14	simple_aae		affected		Y400C	single base exchange	rs1052995		show file
LILRA6	polymorphism_automatic	3.79696274421804e-14	simple_aae		affected		Y400C	single base exchange	rs1052995		show file
LILRA6	polymorphism_automatic	3.79696274421804e-14	simple_aae		affected		Y400C	single base exchange	rs1052995		show file
LILRA6	polymorphism_automatic	7.37985970111765e-08	without_aae		affected			single base exchange	rs1052995		show file
LILRA6	polymorphism_automatic	7.37985970111765e-08	without_aae		affected			single base exchange	rs1052995		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999962 (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)

chr19:54724457T>CN/A show variant in all transcripts IGV

HGNC symbol

LILRB3

Ensembl transcript ID

ENST00000391750

Genbank transcript ID

N/A

UniProt peptide

O75022

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1199A>G
cDNA.1336A>G
g.22146A>G

AA changes

Y400C Score: 194 explain score(s)

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

400

frameshift

known variant

Reference ID: rs1052995

database	homozygous (C/C)	heterozygous	allele carriers
1000G	201	974	1175
ExAC	1243	8012	9255

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.737	0
	-2.274	0
(flanking)	-0.138	0.002

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 gained	22140	0.41	mu: CTACGGCTCATGCAG	ACGG\|ctca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

400

mutated

not conserved

400

Ptroglodytes

not conserved

ENSPTRG00000011451

400

Mmulatta

not conserved

ENSMMUG00000021880

400

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
24	443	TOPO_DOM	Extracellular (Potential).	lost
338	419	DOMAIN	Ig-like C2-type 4.	lost
409	409	CONFLICT	H -> F (in Ref. 1; AAB68668).	might get lost (downstream of altered splice site)
417	417	CONFLICT	V -> M (in Ref. 1; AAB68668).	might get lost (downstream of altered splice site)
444	464	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
465	631	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
480	480	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
512	517	MOTIF	ITIM motif 1.	might get lost (downstream of altered splice site)
525	525	CONFLICT	R -> G (in Ref. 2; AAB87667).	might get lost (downstream of altered splice site)
561	561	CONFLICT	S -> P (in Ref. 2; AAB87667).	might get lost (downstream of altered splice site)
593	598	MOTIF	ITIM motif 2.	might get lost (downstream of altered splice site)
595	595	MOD_RES	Phosphotyrosine; by LYN (By similarity).	might get lost (downstream of altered splice site)
623	628	MOTIF	ITIM motif 3.	might get lost (downstream of altered splice site)
625	625	MOD_RES	Phosphotyrosine; by LYN (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1896 / 1896

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

632 / 632

position of stopcodon in wt / mu cDNA

2033 / 2033

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

138 / 138

chromosome

strand

-1

last intron/exon boundary

1887

theoretical NMD boundary in CDS

1699

length of CDS

1896

coding sequence (CDS) position

1199

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

1336

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

22146

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

54724457

original gDNA sequence snippet

CTACAGGTGCTACGGCTCATACAGCTCCAACCCCCACCTGC

altered gDNA sequence snippet

CTACAGGTGCTACGGCTCATGCAGCTCCAACCCCCACCTGC

original cDNA sequence snippet

CTACAGGTGCTACGGCTCATACAGCTCCAACCCCCACCTGC

altered cDNA sequence snippet

CTACAGGTGCTACGGCTCATGCAGCTCCAACCCCCACCTGC

wildtype AA sequence

MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSQEAQEYRL
HKEGSPEPLD RNNPLEPKNK ARFSIPSMTE HHAGRYRCHY YSSAGWSEPS DPLEMVMTGA
YSKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSRGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPWVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YNRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSN GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSWWQ FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSY SSNPHLLSHP SEPLELVVSG
HSGGSSLPPT GPPSTPGLGR YLEVLIGVSV AFVLLLFLLL FLLLRRQRHS KHRTSDQRKT
DFQRPAGAAE TEPKDRGLLR RSSPAADVQE ENLYAAVKDT QSEDRVELDS QSPHDEDPQA
VTYAPVKHSS PRREMASPPS SLSGEFLDTK DRQVEEDRQM DTEAAASEAS QDVTYAQLHS
LTLRRKATEP PPSQEGEPPA EPSIYATLAI H*

mutated AA sequence

MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSQEAQEYRL
HKEGSPEPLD RNNPLEPKNK ARFSIPSMTE HHAGRYRCHY YSSAGWSEPS DPLEMVMTGA
YSKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSRGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPWVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YNRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSN GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSWWQ FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSC SSNPHLLSHP SEPLELVVSG
HSGGSSLPPT GPPSTPGLGR YLEVLIGVSV AFVLLLFLLL FLLLRRQRHS KHRTSDQRKT
DFQRPAGAAE TEPKDRGLLR RSSPAADVQE ENLYAAVKDT QSEDRVELDS QSPHDEDPQA
VTYAPVKHSS PRREMASPPS SLSGEFLDTK DRQVEEDRQM DTEAAASEAS QDVTYAQLHS
LTLRRKATEP PPSQEGEPPA EPSIYATLAI H*

speed

0.97 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: 0.999999999999962 (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)

chr19:54724457T>CN/A show variant in all transcripts IGV

HGNC symbol

LILRB3

Ensembl transcript ID

ENST00000346401

Genbank transcript ID

N/A

UniProt peptide

O75022

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1199A>G
cDNA.1262A>G
g.22146A>G

AA changes

Y400C Score: 194 explain score(s)

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

400

frameshift

known variant

Reference ID: rs1052995

database	homozygous (C/C)	heterozygous	allele carriers
1000G	201	974	1175
ExAC	1243	8012	9255

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.737	0
	-2.274	0
(flanking)	-0.138	0.002

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 gained	22140	0.41	mu: CTACGGCTCATGCAG	ACGG\|ctca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

400

mutated

not conserved

400

Ptroglodytes

not conserved

ENSPTRG00000011451

400

Mmulatta

not conserved

ENSMMUG00000021880

400

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
24	443	TOPO_DOM	Extracellular (Potential).	lost
338	419	DOMAIN	Ig-like C2-type 4.	lost
409	409	CONFLICT	H -> F (in Ref. 1; AAB68668).	might get lost (downstream of altered splice site)
417	417	CONFLICT	V -> M (in Ref. 1; AAB68668).	might get lost (downstream of altered splice site)
444	464	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
465	631	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
480	480	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
512	517	MOTIF	ITIM motif 1.	might get lost (downstream of altered splice site)
525	525	CONFLICT	R -> G (in Ref. 2; AAB87667).	might get lost (downstream of altered splice site)
561	561	CONFLICT	S -> P (in Ref. 2; AAB87667).	might get lost (downstream of altered splice site)
593	598	MOTIF	ITIM motif 2.	might get lost (downstream of altered splice site)
595	595	MOD_RES	Phosphotyrosine; by LYN (By similarity).	might get lost (downstream of altered splice site)
623	628	MOTIF	ITIM motif 3.	might get lost (downstream of altered splice site)
625	625	MOD_RES	Phosphotyrosine; by LYN (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1932 / 1932

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

644 / 644

position of stopcodon in wt / mu cDNA

1995 / 1995

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

64 / 64

chromosome

strand

-1

last intron/exon boundary

1849

theoretical NMD boundary in CDS

1735

length of CDS

1932

coding sequence (CDS) position

1199

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

1262

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

22146

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

54724457

original gDNA sequence snippet

CTACAGGTGCTACGGCTCATACAGCTCCAACCCCCACCTGC

altered gDNA sequence snippet

CTACAGGTGCTACGGCTCATGCAGCTCCAACCCCCACCTGC

original cDNA sequence snippet

CTACAGGTGCTACGGCTCATACAGCTCCAACCCCCACCTGC

altered cDNA sequence snippet

CTACAGGTGCTACGGCTCATGCAGCTCCAACCCCCACCTGC

wildtype AA sequence

MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSQEAQEYRL
HKEGSPEPLD RNNPLEPKNK ARFSIPSMTE HHAGRYRCHY YSSAGWSEPS DPLEMVMTGA
YSKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSRGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPWVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YNRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSN GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSWWQ FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSY SSNPHLLSHP SEPLELVVSG
PEDQPLNPPG SGPQNPPGLG SGAGTRAAGL GRYLEVLIGV SVAFVLLLFL LLFLLLRRQR
HSKHRTSDQR KTDFQRPAGA AETEPKDRGL LRRSSPAADV QEENLYAAVK DTQSEDRVEL
DSQSPHDEDP QAVTYAPVKH SSPRREMASP PSSLSGEFLD TKDRQVEEDR QMDTEAAASE
ASQDVTYAQL HSLTLRRKAT EPPPSQEGEP PAEPSIYATL AIH*

mutated AA sequence

MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSQEAQEYRL
HKEGSPEPLD RNNPLEPKNK ARFSIPSMTE HHAGRYRCHY YSSAGWSEPS DPLEMVMTGA
YSKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSRGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPWVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YNRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSN GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSWWQ FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSC SSNPHLLSHP SEPLELVVSG
PEDQPLNPPG SGPQNPPGLG SGAGTRAAGL GRYLEVLIGV SVAFVLLLFL LLFLLLRRQR
HSKHRTSDQR KTDFQRPAGA AETEPKDRGL LRRSSPAADV QEENLYAAVK DTQSEDRVEL
DSQSPHDEDP QAVTYAPVKH SSPRREMASP PSSLSGEFLD TKDRQVEEDR QMDTEAAASE
ASQDVTYAQL HSLTLRRKAT EPPPSQEGEP PAEPSIYATL AIH*

speed

1.28 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999962 (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)

chr19:54724457T>CN/A show variant in all transcripts IGV

HGNC symbol

LILRB3

Ensembl transcript ID

ENST00000245620

Genbank transcript ID

NM_001081450

UniProt peptide

O75022

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1199A>G
cDNA.1201A>G
g.22146A>G

AA changes

Y400C Score: 194 explain score(s)

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

400

frameshift

known variant

Reference ID: rs1052995

database	homozygous (C/C)	heterozygous	allele carriers
1000G	201	974	1175
ExAC	1243	8012	9255

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.737	0
	-2.274	0
(flanking)	-0.138	0.002

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 gained	22140	0.41	mu: CTACGGCTCATGCAG	ACGG\|ctca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

400

mutated

not conserved

400

Ptroglodytes

not conserved

ENSPTRG00000011451

400

Mmulatta

not conserved

ENSMMUG00000021880

400

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
24	443	TOPO_DOM	Extracellular (Potential).	lost
338	419	DOMAIN	Ig-like C2-type 4.	lost
409	409	CONFLICT	H -> F (in Ref. 1; AAB68668).	might get lost (downstream of altered splice site)
417	417	CONFLICT	V -> M (in Ref. 1; AAB68668).	might get lost (downstream of altered splice site)
444	464	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
465	631	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
480	480	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
512	517	MOTIF	ITIM motif 1.	might get lost (downstream of altered splice site)
525	525	CONFLICT	R -> G (in Ref. 2; AAB87667).	might get lost (downstream of altered splice site)
561	561	CONFLICT	S -> P (in Ref. 2; AAB87667).	might get lost (downstream of altered splice site)
593	598	MOTIF	ITIM motif 2.	might get lost (downstream of altered splice site)
595	595	MOD_RES	Phosphotyrosine; by LYN (By similarity).	might get lost (downstream of altered splice site)
623	628	MOTIF	ITIM motif 3.	might get lost (downstream of altered splice site)
625	625	MOD_RES	Phosphotyrosine; by LYN (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1899 / 1899

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

633 / 633

position of stopcodon in wt / mu cDNA

1901 / 1901

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

1199

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

1201

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

22146

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

54724457

original gDNA sequence snippet

CTACAGGTGCTACGGCTCATACAGCTCCAACCCCCACCTGC

altered gDNA sequence snippet

CTACAGGTGCTACGGCTCATGCAGCTCCAACCCCCACCTGC

original cDNA sequence snippet

CTACAGGTGCTACGGCTCATACAGCTCCAACCCCCACCTGC

altered cDNA sequence snippet

CTACAGGTGCTACGGCTCATGCAGCTCCAACCCCCACCTGC

wildtype AA sequence

MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSQEAQEYRL
HKEGSPEPLD RNNPLEPKNK ARFSIPSMTE HHAGRYRCHY YSSAGWSEPS DPLEMVMTGA
YSKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSRGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPWVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YNRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSN GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSWWQ FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSY SSNPHLLSHP SEPLELVVSG
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

MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSQEAQEYRL
HKEGSPEPLD RNNPLEPKNK ARFSIPSMTE HHAGRYRCHY YSSAGWSEPS DPLEMVMTGA
YSKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSRGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPWVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YNRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSN GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSWWQ FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSC SSNPHLLSHP SEPLELVVSG
HSGGSSLPPT GPPSTPGLGR YLEVLIGVSV AFVLLLFLLL FLLLRRQRHS KHRTSDQRKT
DFQRPAGAAE TEPKDRGLLR RSSPAADVQE ENLYAAVKDT QSEDRVELDS QQSPHDEDPQ
AVTYAPVKHS SPRREMASPP SSLSGEFLDT KDRQVEEDRQ MDTEAAASEA SQDVTYAQLH
SLTLRRKATE PPPSQEGEPP AEPSIYATLA IH*

speed

1.35 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999962 (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)

chr19:54724457T>CN/A show variant in all transcripts IGV

HGNC symbol

LILRB3

Ensembl transcript ID

ENST00000407860

Genbank transcript ID

N/A

UniProt peptide

O75022

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1199A>G
cDNA.1201A>G
g.22146A>G

AA changes

Y400C Score: 194 explain score(s)

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

400

frameshift

known variant

Reference ID: rs1052995

database	homozygous (C/C)	heterozygous	allele carriers
1000G	201	974	1175
ExAC	1243	8012	9255

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.737	0
	-2.274	0
(flanking)	-0.138	0.002

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 gained	22140	0.41	mu: CTACGGCTCATGCAG	ACGG\|ctca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

400

mutated

not conserved

400

Ptroglodytes

not conserved

ENSPTRG00000011451

400

Mmulatta

not conserved

ENSMMUG00000021880

400

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
24	443	TOPO_DOM	Extracellular (Potential).	lost
338	419	DOMAIN	Ig-like C2-type 4.	lost
409	409	CONFLICT	H -> F (in Ref. 1; AAB68668).	might get lost (downstream of altered splice site)
417	417	CONFLICT	V -> M (in Ref. 1; AAB68668).	might get lost (downstream of altered splice site)
444	464	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
465	631	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
480	480	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
512	517	MOTIF	ITIM motif 1.	might get lost (downstream of altered splice site)
525	525	CONFLICT	R -> G (in Ref. 2; AAB87667).	might get lost (downstream of altered splice site)
561	561	CONFLICT	S -> P (in Ref. 2; AAB87667).	might get lost (downstream of altered splice site)
593	598	MOTIF	ITIM motif 2.	might get lost (downstream of altered splice site)
595	595	MOD_RES	Phosphotyrosine; by LYN (By similarity).	might get lost (downstream of altered splice site)
623	628	MOTIF	ITIM motif 3.	might get lost (downstream of altered splice site)
625	625	MOD_RES	Phosphotyrosine; by LYN (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1947 / 1947

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

649 / 649

position of stopcodon in wt / mu cDNA

1949 / 1949

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

1803

theoretical NMD boundary in CDS

1750

length of CDS

1947

coding sequence (CDS) position

1199

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

1201

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

22146

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

54724457

original gDNA sequence snippet

CTACAGGTGCTACGGCTCATACAGCTCCAACCCCCACCTGC

altered gDNA sequence snippet

CTACAGGTGCTACGGCTCATGCAGCTCCAACCCCCACCTGC

original cDNA sequence snippet

CTACAGGTGCTACGGCTCATACAGCTCCAACCCCCACCTGC

altered cDNA sequence snippet

CTACAGGTGCTACGGCTCATGCAGCTCCAACCCCCACCTGC

wildtype AA sequence

MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSLEAQEYQL
DKEGSPEPLD RNNPLEPKNK ARFSIPSMTQ HHAGRYRCHY YSSAGWSEPS DPLELVMTGA
YSKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSRGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPWVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YNRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSN GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSWWQ FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSY SSNPHLLSHP SEPLELVVSG
HSGGSSLPPT GPPSTPGGPE DQPLNPPGSG PQNRLGRYLE VLIGVSVAFV LLLFLLLFLL
LRRQRHSKHR TSDQRKTDFQ RPAGAAETEP KDRGLLRRSS PAADVQEENL YAAVKDTQSE
DRVELDSQSP HDEDPQAVTY APVKHSSPRR EMASPPSSLS GEFLDTKDRQ VEEDRQMDTE
AAASEASQDV TYAQLHSLTL RRKATEPPPS QEGEPPAEPS IYATLAIH*

mutated AA sequence

MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSLEAQEYQL
DKEGSPEPLD RNNPLEPKNK ARFSIPSMTQ HHAGRYRCHY YSSAGWSEPS DPLELVMTGA
YSKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSRGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPWVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YNRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSN GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSWWQ FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSC SSNPHLLSHP SEPLELVVSG
HSGGSSLPPT GPPSTPGGPE DQPLNPPGSG PQNRLGRYLE VLIGVSVAFV LLLFLLLFLL
LRRQRHSKHR TSDQRKTDFQ RPAGAAETEP KDRGLLRRSS PAADVQEENL YAAVKDTQSE
DRVELDSQSP HDEDPQAVTY APVKHSSPRR EMASPPSSLS GEFLDTKDRQ VEEDRQMDTE
AAASEASQDV TYAQLHSLTL RRKATEPPPS QEGEPPAEPS IYATLAIH*

speed

0.50 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999962 (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)

chr19:54724457T>CN/A show variant in all transcripts IGV

HGNC symbol

LILRB3

Ensembl transcript ID

ENST00000424807

Genbank transcript ID

NM_006864

UniProt peptide

O75022

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1199A>G
cDNA.1310A>G
g.22146A>G

AA changes

Y400C Score: 194 explain score(s)

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

400

frameshift

known variant

Reference ID: rs1052995

database	homozygous (C/C)	heterozygous	allele carriers
1000G	201	974	1175
ExAC	1243	8012	9255

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.737	0
	-2.274	0
(flanking)	-0.138	0.002

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 gained	22140	0.41	mu: CTACGGCTCATGCAG	ACGG\|ctca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

400

mutated

not conserved

400

Ptroglodytes

not conserved

ENSPTRG00000011451

400

Mmulatta

not conserved

ENSMMUG00000021880

400

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
24	443	TOPO_DOM	Extracellular (Potential).	lost
338	419	DOMAIN	Ig-like C2-type 4.	lost
409	409	CONFLICT	H -> F (in Ref. 1; AAB68668).	might get lost (downstream of altered splice site)
417	417	CONFLICT	V -> M (in Ref. 1; AAB68668).	might get lost (downstream of altered splice site)
444	464	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
465	631	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
480	480	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
512	517	MOTIF	ITIM motif 1.	might get lost (downstream of altered splice site)
525	525	CONFLICT	R -> G (in Ref. 2; AAB87667).	might get lost (downstream of altered splice site)
561	561	CONFLICT	S -> P (in Ref. 2; AAB87667).	might get lost (downstream of altered splice site)
593	598	MOTIF	ITIM motif 2.	might get lost (downstream of altered splice site)
595	595	MOD_RES	Phosphotyrosine; by LYN (By similarity).	might get lost (downstream of altered splice site)
623	628	MOTIF	ITIM motif 3.	might get lost (downstream of altered splice site)
625	625	MOD_RES	Phosphotyrosine; by LYN (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1896 / 1896

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

632 / 632

position of stopcodon in wt / mu cDNA

2007 / 2007

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

112 / 112

chromosome

strand

-1

last intron/exon boundary

1861

theoretical NMD boundary in CDS

1699

length of CDS

1896

coding sequence (CDS) position

1199

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

1310

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

22146

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

54724457

original gDNA sequence snippet

CTACAGGTGCTACGGCTCATACAGCTCCAACCCCCACCTGC

altered gDNA sequence snippet

CTACAGGTGCTACGGCTCATGCAGCTCCAACCCCCACCTGC

original cDNA sequence snippet

CTACAGGTGCTACGGCTCATACAGCTCCAACCCCCACCTGC

altered cDNA sequence snippet

CTACAGGTGCTACGGCTCATGCAGCTCCAACCCCCACCTGC

wildtype AA sequence

mutated AA sequence

MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSQEAQEYRL
HKEGSPEPLD RNNPLEPKNK ARFSIPSMTE HHAGRYRCHY YSSAGWSEPS DPLEMVMTGA
YSKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSRGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPWVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YNRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSN GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSWWQ FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSC SSNPHLLSHP SEPLELVVSG
HSGGSSLPPT GPPSTPGLGR YLEVLIGVSV AFVLLLFLLL FLLLRRQRHS KHRTSDQRKT
DFQRPAGAAE TEPKDRGLLR RSSPAADVQE ENLYAAVKDT QSEDRVELDS QSPHDEDPQA
VTYAPVKHSS PRREMASPPS SLSGEFLDTK DRQVEEDRQM DTEAAASEAS QDVTYAQLHS
LTLRRKATEP PPSQEGEPPA EPSIYATLAI H*

speed

1.37 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999962 (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)

chr19:54724457T>CN/A show variant in all transcripts IGV

HGNC symbol

LILRA6

Ensembl transcript ID

ENST00000440558

Genbank transcript ID

N/A

UniProt peptide

Q6PI73

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1199A>G
cDNA.1248A>G
g.22674A>G

AA changes

Y400C Score: 194 explain score(s)

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

400

frameshift

known variant

Reference ID: rs1052995

database	homozygous (C/C)	heterozygous	allele carriers
1000G	201	974	1175
ExAC	1243	8012	9255

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.737	0
	-2.274	0
(flanking)	-0.138	0.002

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 gained	22668	0.41	mu: CTACGGCTCATGCAG	ACGG\|ctca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

400

mutated

not conserved

400

Ptroglodytes

not conserved

ENSPTRG00000011451

400

Mmulatta

not conserved

ENSMMUG00000021880

400

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
24	447	TOPO_DOM	Extracellular (Potential).	lost
323	408	DOMAIN	Ig-like C2-type 2.	lost
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

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1896 / 1896

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

632 / 632

position of stopcodon in wt / mu cDNA

1945 / 1945

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

50 / 50

chromosome

strand

-1

last intron/exon boundary

1799

theoretical NMD boundary in CDS

1699

length of CDS

1896

coding sequence (CDS) position

1199

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

1248

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

22674

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

54724457

original gDNA sequence snippet

CTACAGGTGCTACGGCTCATACAGCTCCAACCCCCACCTGC

altered gDNA sequence snippet

CTACAGGTGCTACGGCTCATGCAGCTCCAACCCCCACCTGC

original cDNA sequence snippet

CTACAGGTGCTACGGCTCATACAGCTCCAACCCCCACCTGC

altered cDNA sequence snippet

CTACAGGTGCTACGGCTCATGCAGCTCCAACCCCCACCTGC

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 VTLLCQSWWQ FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSY SSNPHLLSHP SEPLELVVSG
HSGGSSLPPT GPPSTPGLGR YLEVLIGVSV AFVLLLFLLL FLLLRRQRHS KHRTSDQRKT
DFQRPAGAAE TEPKDRGLLR RSSPAADVQE ENLYAAVKDT QSEDRVELDS QSPHDEDPQA
VTYAPVKHSS PRREMASPPS SLSGEFLDTK DRQVEEDRQM DTEAAASEAS QDVTYAQLHS
LTLRRKATEP PPSQEGEPPA EPSIYATLAI H*

mutated 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 VTLLCQSWWQ FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSC SSNPHLLSHP SEPLELVVSG
HSGGSSLPPT GPPSTPGLGR YLEVLIGVSV AFVLLLFLLL FLLLRRQRHS KHRTSDQRKT
DFQRPAGAAE TEPKDRGLLR RSSPAADVQE ENLYAAVKDT QSEDRVELDS QSPHDEDPQA
VTYAPVKHSS PRREMASPPS SLSGEFLDTK DRQVEEDRQM DTEAAASEAS QDVTYAQLHS
LTLRRKATEP PPSQEGEPPA EPSIYATLAI H*

speed

0.47 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999962 (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)

chr19:54724457T>CN/A show variant in all transcripts IGV

HGNC symbol

LILRA6

Ensembl transcript ID

ENST00000270464

Genbank transcript ID

N/A

UniProt peptide

Q6PI73

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1199A>G
cDNA.1201A>G
g.22674A>G

AA changes

Y400C Score: 194 explain score(s)

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

400

frameshift

known variant

Reference ID: rs1052995

database	homozygous (C/C)	heterozygous	allele carriers
1000G	201	974	1175
ExAC	1243	8012	9255

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.737	0
	-2.274	0
(flanking)	-0.138	0.002

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 gained	22668	0.41	mu: CTACGGCTCATGCAG	ACGG\|ctca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

400

mutated

not conserved

400

Ptroglodytes

not conserved

ENSPTRG00000011451

400

Mmulatta

not conserved

ENSMMUG00000021880

400

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
24	447	TOPO_DOM	Extracellular (Potential).	lost
323	408	DOMAIN	Ig-like C2-type 2.	lost
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

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1899 / 1899

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

633 / 633

position of stopcodon in wt / mu cDNA

1901 / 1901

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

1199

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

1201

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

22674

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

54724457

original gDNA sequence snippet

CTACAGGTGCTACGGCTCATACAGCTCCAACCCCCACCTGC

altered gDNA sequence snippet

CTACAGGTGCTACGGCTCATGCAGCTCCAACCCCCACCTGC

original cDNA sequence snippet

CTACAGGTGCTACGGCTCATACAGCTCCAACCCCCACCTGC

altered cDNA sequence snippet

CTACAGGTGCTACGGCTCATGCAGCTCCAACCCCCACCTGC

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 YNRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSN GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSWWQ FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSY SSNPHLLSHP SEPLELVVSG
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

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 YNRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSN GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSWWQ FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSC SSNPHLLSHP SEPLELVVSG
HSGGSSLPPT GPPSTPGLGR YLEVLIGVSV AFVLLLFLLL FLLLRRQRHS KHRTSDQRKT
DFQRPAGAAE TEPKDRGLLR RSSPAADVQE ENLYAAVKDT QSEDRVELDS QQSPHDEDPQ
AVTYAPVKHS SPRREMASPP SSLSGEFLDT KDRQVEEDRQ MDTEAAASEA SQDVTYAQLH
SLTLRRKATE PPPSQEGEPP AEPSIYATLA IH*

speed

0.90 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999926201403 (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)

chr19:54724457T>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.22674A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1052995

database	homozygous (C/C)	heterozygous	allele carriers
1000G	201	974	1175
ExAC	1243	8012	9255

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.737	0
	-2.274	0
(flanking)	-0.138	0.002

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 gained	22668	0.41	mu: CTACGGCTCATGCAG	ACGG\|ctca

distance from splice site

1343

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)

22674

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

54724457

original gDNA sequence snippet

CTACAGGTGCTACGGCTCATACAGCTCCAACCCCCACCTGC

altered gDNA sequence snippet

CTACAGGTGCTACGGCTCATGCAGCTCCAACCCCCACCTGC

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

0.37 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999926201403 (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)

chr19:54724457T>CN/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.22674A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1052995

database	homozygous (C/C)	heterozygous	allele carriers
1000G	201	974	1175
ExAC	1243	8012	9255

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.737	0
	-2.274	0
(flanking)	-0.138	0.002

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
Donor gained	22668	0.41	mu: CTACGGCTCATGCAG	ACGG\|ctca

distance from splice site

1343

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)

22674

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

54724457

original gDNA sequence snippet

CTACAGGTGCTACGGCTCATACAGCTCCAACCCCCACCTGC

altered gDNA sequence snippet

CTACAGGTGCTACGGCTCATGCAGCTCCAACCCCCACCTGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

mutated AA sequence

N/A

speed

0.36 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

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems