Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
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 9.25 s - this script 7.721453 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
LILRB3polymorphism_automatic4.09560163561196e-11simple_aaeaffectedT187Nsingle base exchangers75069054show file
LILRB3polymorphism_automatic4.09560163561196e-11simple_aaeaffectedT187Nsingle base exchangers75069054show file
LILRB3polymorphism_automatic4.09560163561196e-11simple_aaeaffectedT187Nsingle base exchangers75069054show file
LILRB3polymorphism_automatic4.09560163561196e-11simple_aaeaffectedT187Nsingle base exchangers75069054show file
LILRB3polymorphism_automatic4.09560163561196e-11simple_aaeaffectedT187Nsingle base exchangers75069054show file
LILRA6polymorphism_automatic1.38111786496253e-06without_aaeaffectedsingle base exchangers75069054show file
LILRA6polymorphism_automatic1.38111786496253e-06without_aaeaffectedsingle base exchangers75069054show file
LILRA6polymorphism_automatic1.38111786496253e-06without_aaeaffectedsingle base exchangers75069054show file
LILRA6polymorphism_automatic1.38111786496253e-06without_aaeaffectedsingle base exchangers75069054show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999959044 (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) chr19:54725798G>TN/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.560C>A
cDNA.697C>A
g.20805C>A
AA changes T187N Score: 65 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 187
frameshift no
known variant Reference ID: rs75069054
databasehomozygous (T/T)heterozygousallele carriers
1000G68412841968
ExAC56801042916109
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2590.001
-0.3680.001
(flanking)1.6410.003
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased20804wt: 0.33 / mu: 0.60wt: TGTTCCCTGTGGGCCCCGTGACCCCCAGCCACAGGTGGAGG
mu: TGTTCCCTGTGGGCCCCGTGAACCCCAGCCACAGGTGGAGG		 gtga|CCCC
Donor increased20800wt: 0.39 / mu: 0.99wt: GGCCCCGTGACCCCC
mu: GGCCCCGTGAACCCC		 CCCC|gtga
distance from splice site 99
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      187GFQALFPVGPVTPSHRWRFTCYYY
mutated  not conserved    187FPVGPVNPSHRWRFTCYY
Ptroglodytes  all identical  ENSPTRG00000011451  187FPVGPVTPSHRWTFRCYY
Mmulatta  all identical  ENSMMUG00000021880  187FPVGPVTPSHRWTFRCYY
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)featuredetails 
24443TOPO_DOMExtracellular (Potential).lost
111229DOMAINIg-like C2-type 2.lost
187187CONFLICTT -> N (in Ref. 1; AAB68668, 2; AAB87667 and 3; AAP30716).lost
196196DISULFIDBy similarity.might get lost (downstream of altered splice site)
201201CONFLICTT -> M (in Ref. 1; AAB68668 and 2; AAB87667).might get lost (downstream of altered splice site)
205205CONFLICTW -> R (in Ref. 2; AAB87667).might get lost (downstream of altered splice site)
225314DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
245245DISULFIDPotential.might get lost (downstream of altered splice site)
252252CONFLICTN -> D (in Ref. 1; AAB68668 and 2; AAB87667).might get lost (downstream of altered splice site)
263263CONFLICTD -> A (in Ref. 3; AAP30716).might get lost (downstream of altered splice site)
268268CONFLICTP -> S (in Ref. 3; AAP30716).might get lost (downstream of altered splice site)
280280CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
290290CONFLICTN -> H (in Ref. 1; AAB68668).might get lost (downstream of altered splice site)
296296DISULFIDPotential.might get lost (downstream of altered splice site)
301301CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
338419DOMAINIg-like C2-type 4.might get lost (downstream of altered splice site)
340340CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
345345DISULFIDPotential.might get lost (downstream of altered splice site)
396396DISULFIDPotential.might get lost (downstream of altered splice site)
409409CONFLICTH -> F (in Ref. 1; AAB68668).might get lost (downstream of altered splice site)
417417CONFLICTV -> M (in Ref. 1; AAB68668).might get lost (downstream of altered splice site)
444464TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
465631TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
480480MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
512517MOTIFITIM motif 1.might get lost (downstream of altered splice site)
525525CONFLICTR -> G (in Ref. 2; AAB87667).might get lost (downstream of altered splice site)
561561CONFLICTS -> P (in Ref. 2; AAB87667).might get lost (downstream of altered splice site)
593598MOTIFITIM motif 2.might get lost (downstream of altered splice site)
595595MOD_RESPhosphotyrosine; by LYN (By similarity).might get lost (downstream of altered splice site)
623628MOTIFITIM motif 3.might get lost (downstream of altered splice site)
625625MOD_RESPhosphotyrosine; 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 19
strand -1
last intron/exon boundary 1887
theoretical NMD boundary in CDS 1699
length of CDS 1896
coding sequence (CDS) position 560
cDNA position
(for ins/del: last normal base / first normal base)		 697
gDNA position
(for ins/del: last normal base / first normal base)		 20805
chromosomal position
(for ins/del: last normal base / first normal base)		 54725798
original gDNA sequence snippet GTTCCCTGTGGGCCCCGTGACCCCCAGCCACAGGTGGAGGT
altered gDNA sequence snippet GTTCCCTGTGGGCCCCGTGAACCCCAGCCACAGGTGGAGGT
original cDNA sequence snippet GTTCCCTGTGGGCCCCGTGACCCCCAGCCACAGGTGGAGGT
altered cDNA sequence snippet GTTCCCTGTGGGCCCCGTGAACCCCAGCCACAGGTGGAGGT
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
FPVGPVNPSH 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*
speed 1.11 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999959044 (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) chr19:54725798G>TN/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.560C>A
cDNA.623C>A
g.20805C>A
AA changes T187N Score: 65 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 187
frameshift no
known variant Reference ID: rs75069054
databasehomozygous (T/T)heterozygousallele carriers
1000G68412841968
ExAC56801042916109
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2590.001
-0.3680.001
(flanking)1.6410.003
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased20804wt: 0.33 / mu: 0.60wt: TGTTCCCTGTGGGCCCCGTGACCCCCAGCCACAGGTGGAGG
mu: TGTTCCCTGTGGGCCCCGTGAACCCCAGCCACAGGTGGAGG		 gtga|CCCC
Donor increased20800wt: 0.39 / mu: 0.99wt: GGCCCCGTGACCCCC
mu: GGCCCCGTGAACCCC		 CCCC|gtga
distance from splice site 99
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      187GFQALFPVGPVTPSHRWRFTCYYY
mutated  not conserved    187FPVGPVNPSHRWRFTCYY
Ptroglodytes  all identical  ENSPTRG00000011451  187FPVGPVTPSHRWTFRCYY
Mmulatta  all identical  ENSMMUG00000021880  187FPVGPVTPSHRWTFRCYY
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)featuredetails 
24443TOPO_DOMExtracellular (Potential).lost
111229DOMAINIg-like C2-type 2.lost
187187CONFLICTT -> N (in Ref. 1; AAB68668, 2; AAB87667 and 3; AAP30716).lost
196196DISULFIDBy similarity.might get lost (downstream of altered splice site)
201201CONFLICTT -> M (in Ref. 1; AAB68668 and 2; AAB87667).might get lost (downstream of altered splice site)
205205CONFLICTW -> R (in Ref. 2; AAB87667).might get lost (downstream of altered splice site)
225314DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
245245DISULFIDPotential.might get lost (downstream of altered splice site)
252252CONFLICTN -> D (in Ref. 1; AAB68668 and 2; AAB87667).might get lost (downstream of altered splice site)
263263CONFLICTD -> A (in Ref. 3; AAP30716).might get lost (downstream of altered splice site)
268268CONFLICTP -> S (in Ref. 3; AAP30716).might get lost (downstream of altered splice site)
280280CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
290290CONFLICTN -> H (in Ref. 1; AAB68668).might get lost (downstream of altered splice site)
296296DISULFIDPotential.might get lost (downstream of altered splice site)
301301CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
338419DOMAINIg-like C2-type 4.might get lost (downstream of altered splice site)
340340CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
345345DISULFIDPotential.might get lost (downstream of altered splice site)
396396DISULFIDPotential.might get lost (downstream of altered splice site)
409409CONFLICTH -> F (in Ref. 1; AAB68668).might get lost (downstream of altered splice site)
417417CONFLICTV -> M (in Ref. 1; AAB68668).might get lost (downstream of altered splice site)
444464TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
465631TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
480480MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
512517MOTIFITIM motif 1.might get lost (downstream of altered splice site)
525525CONFLICTR -> G (in Ref. 2; AAB87667).might get lost (downstream of altered splice site)
561561CONFLICTS -> P (in Ref. 2; AAB87667).might get lost (downstream of altered splice site)
593598MOTIFITIM motif 2.might get lost (downstream of altered splice site)
595595MOD_RESPhosphotyrosine; by LYN (By similarity).might get lost (downstream of altered splice site)
623628MOTIFITIM motif 3.might get lost (downstream of altered splice site)
625625MOD_RESPhosphotyrosine; 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 19
strand -1
last intron/exon boundary 1849
theoretical NMD boundary in CDS 1735
length of CDS 1932
coding sequence (CDS) position 560
cDNA position
(for ins/del: last normal base / first normal base)		 623
gDNA position
(for ins/del: last normal base / first normal base)		 20805
chromosomal position
(for ins/del: last normal base / first normal base)		 54725798
original gDNA sequence snippet GTTCCCTGTGGGCCCCGTGACCCCCAGCCACAGGTGGAGGT
altered gDNA sequence snippet GTTCCCTGTGGGCCCCGTGAACCCCAGCCACAGGTGGAGGT
original cDNA sequence snippet GTTCCCTGTGGGCCCCGTGACCCCCAGCCACAGGTGGAGGT
altered cDNA sequence snippet GTTCCCTGTGGGCCCCGTGAACCCCAGCCACAGGTGGAGGT
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
FPVGPVNPSH 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*
speed 1.20 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999959044 (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) chr19:54725798G>TN/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.560C>A
cDNA.562C>A
g.20805C>A
AA changes T187N Score: 65 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 187
frameshift no
known variant Reference ID: rs75069054
databasehomozygous (T/T)heterozygousallele carriers
1000G68412841968
ExAC56801042916109
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2590.001
-0.3680.001
(flanking)1.6410.003
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased20804wt: 0.33 / mu: 0.60wt: TGTTCCCTGTGGGCCCCGTGACCCCCAGCCACAGGTGGAGG
mu: TGTTCCCTGTGGGCCCCGTGAACCCCAGCCACAGGTGGAGG		 gtga|CCCC
Donor increased20800wt: 0.39 / mu: 0.99wt: GGCCCCGTGACCCCC
mu: GGCCCCGTGAACCCC		 CCCC|gtga
distance from splice site 99
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      187GFQALFPVGPVTPSHRWRFTCYYY
mutated  not conserved    187FPVGPVNPSHRWRFTCYY
Ptroglodytes  all identical  ENSPTRG00000011451  187FPVGPVTPSHRWTFRCYY
Mmulatta  all identical  ENSMMUG00000021880  187FPVGPVTPSHRWTFRCYY
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)featuredetails 
24443TOPO_DOMExtracellular (Potential).lost
111229DOMAINIg-like C2-type 2.lost
187187CONFLICTT -> N (in Ref. 1; AAB68668, 2; AAB87667 and 3; AAP30716).lost
196196DISULFIDBy similarity.might get lost (downstream of altered splice site)
201201CONFLICTT -> M (in Ref. 1; AAB68668 and 2; AAB87667).might get lost (downstream of altered splice site)
205205CONFLICTW -> R (in Ref. 2; AAB87667).might get lost (downstream of altered splice site)
225314DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
245245DISULFIDPotential.might get lost (downstream of altered splice site)
252252CONFLICTN -> D (in Ref. 1; AAB68668 and 2; AAB87667).might get lost (downstream of altered splice site)
263263CONFLICTD -> A (in Ref. 3; AAP30716).might get lost (downstream of altered splice site)
268268CONFLICTP -> S (in Ref. 3; AAP30716).might get lost (downstream of altered splice site)
280280CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
290290CONFLICTN -> H (in Ref. 1; AAB68668).might get lost (downstream of altered splice site)
296296DISULFIDPotential.might get lost (downstream of altered splice site)
301301CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
338419DOMAINIg-like C2-type 4.might get lost (downstream of altered splice site)
340340CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
345345DISULFIDPotential.might get lost (downstream of altered splice site)
396396DISULFIDPotential.might get lost (downstream of altered splice site)
409409CONFLICTH -> F (in Ref. 1; AAB68668).might get lost (downstream of altered splice site)
417417CONFLICTV -> M (in Ref. 1; AAB68668).might get lost (downstream of altered splice site)
444464TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
465631TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
480480MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
512517MOTIFITIM motif 1.might get lost (downstream of altered splice site)
525525CONFLICTR -> G (in Ref. 2; AAB87667).might get lost (downstream of altered splice site)
561561CONFLICTS -> P (in Ref. 2; AAB87667).might get lost (downstream of altered splice site)
593598MOTIFITIM motif 2.might get lost (downstream of altered splice site)
595595MOD_RESPhosphotyrosine; by LYN (By similarity).might get lost (downstream of altered splice site)
623628MOTIFITIM motif 3.might get lost (downstream of altered splice site)
625625MOD_RESPhosphotyrosine; 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 19
strand -1
last intron/exon boundary 1755
theoretical NMD boundary in CDS 1702
length of CDS 1899
coding sequence (CDS) position 560
cDNA position
(for ins/del: last normal base / first normal base)		 562
gDNA position
(for ins/del: last normal base / first normal base)		 20805
chromosomal position
(for ins/del: last normal base / first normal base)		 54725798
original gDNA sequence snippet GTTCCCTGTGGGCCCCGTGACCCCCAGCCACAGGTGGAGGT
altered gDNA sequence snippet GTTCCCTGTGGGCCCCGTGAACCCCAGCCACAGGTGGAGGT
original cDNA sequence snippet GTTCCCTGTGGGCCCCGTGACCCCCAGCCACAGGTGGAGGT
altered cDNA sequence snippet GTTCCCTGTGGGCCCCGTGAACCCCAGCCACAGGTGGAGGT
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
FPVGPVNPSH 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*
speed 1.19 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999959044 (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) chr19:54725798G>TN/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.560C>A
cDNA.562C>A
g.20805C>A
AA changes T187N Score: 65 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 187
frameshift no
known variant Reference ID: rs75069054
databasehomozygous (T/T)heterozygousallele carriers
1000G68412841968
ExAC56801042916109
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2590.001
-0.3680.001
(flanking)1.6410.003
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased20804wt: 0.33 / mu: 0.60wt: TGTTCCCTGTGGGCCCCGTGACCCCCAGCCACAGGTGGAGG
mu: TGTTCCCTGTGGGCCCCGTGAACCCCAGCCACAGGTGGAGG		 gtga|CCCC
Donor increased20800wt: 0.39 / mu: 0.99wt: GGCCCCGTGACCCCC
mu: GGCCCCGTGAACCCC		 CCCC|gtga
distance from splice site 99
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      187GFQALFPVGPVTPSHRWRFTCYYY
mutated  not conserved    187FPVGPVNPSHRWRFTCYY
Ptroglodytes  all identical  ENSPTRG00000011451  187FPVGPVTPSHRWTFRCYY
Mmulatta  all identical  ENSMMUG00000021880  187FPVGPVTPSHRWTFRCYY
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)featuredetails 
24443TOPO_DOMExtracellular (Potential).lost
111229DOMAINIg-like C2-type 2.lost
187187CONFLICTT -> N (in Ref. 1; AAB68668, 2; AAB87667 and 3; AAP30716).lost
196196DISULFIDBy similarity.might get lost (downstream of altered splice site)
201201CONFLICTT -> M (in Ref. 1; AAB68668 and 2; AAB87667).might get lost (downstream of altered splice site)
205205CONFLICTW -> R (in Ref. 2; AAB87667).might get lost (downstream of altered splice site)
225314DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
245245DISULFIDPotential.might get lost (downstream of altered splice site)
252252CONFLICTN -> D (in Ref. 1; AAB68668 and 2; AAB87667).might get lost (downstream of altered splice site)
263263CONFLICTD -> A (in Ref. 3; AAP30716).might get lost (downstream of altered splice site)
268268CONFLICTP -> S (in Ref. 3; AAP30716).might get lost (downstream of altered splice site)
280280CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
290290CONFLICTN -> H (in Ref. 1; AAB68668).might get lost (downstream of altered splice site)
296296DISULFIDPotential.might get lost (downstream of altered splice site)
301301CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
338419DOMAINIg-like C2-type 4.might get lost (downstream of altered splice site)
340340CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
345345DISULFIDPotential.might get lost (downstream of altered splice site)
396396DISULFIDPotential.might get lost (downstream of altered splice site)
409409CONFLICTH -> F (in Ref. 1; AAB68668).might get lost (downstream of altered splice site)
417417CONFLICTV -> M (in Ref. 1; AAB68668).might get lost (downstream of altered splice site)
444464TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
465631TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
480480MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
512517MOTIFITIM motif 1.might get lost (downstream of altered splice site)
525525CONFLICTR -> G (in Ref. 2; AAB87667).might get lost (downstream of altered splice site)
561561CONFLICTS -> P (in Ref. 2; AAB87667).might get lost (downstream of altered splice site)
593598MOTIFITIM motif 2.might get lost (downstream of altered splice site)
595595MOD_RESPhosphotyrosine; by LYN (By similarity).might get lost (downstream of altered splice site)
623628MOTIFITIM motif 3.might get lost (downstream of altered splice site)
625625MOD_RESPhosphotyrosine; 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 19
strand -1
last intron/exon boundary 1803
theoretical NMD boundary in CDS 1750
length of CDS 1947
coding sequence (CDS) position 560
cDNA position
(for ins/del: last normal base / first normal base)		 562
gDNA position
(for ins/del: last normal base / first normal base)		 20805
chromosomal position
(for ins/del: last normal base / first normal base)		 54725798
original gDNA sequence snippet GTTCCCTGTGGGCCCCGTGACCCCCAGCCACAGGTGGAGGT
altered gDNA sequence snippet GTTCCCTGTGGGCCCCGTGAACCCCAGCCACAGGTGGAGGT
original cDNA sequence snippet GTTCCCTGTGGGCCCCGTGACCCCCAGCCACAGGTGGAGGT
altered cDNA sequence snippet GTTCCCTGTGGGCCCCGTGAACCCCAGCCACAGGTGGAGGT
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
FPVGPVNPSH 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*
speed 1.00 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999959044 (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) chr19:54725798G>TN/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.560C>A
cDNA.671C>A
g.20805C>A
AA changes T187N Score: 65 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 187
frameshift no
known variant Reference ID: rs75069054
databasehomozygous (T/T)heterozygousallele carriers
1000G68412841968
ExAC56801042916109
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2590.001
-0.3680.001
(flanking)1.6410.003
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased20804wt: 0.33 / mu: 0.60wt: TGTTCCCTGTGGGCCCCGTGACCCCCAGCCACAGGTGGAGG
mu: TGTTCCCTGTGGGCCCCGTGAACCCCAGCCACAGGTGGAGG		 gtga|CCCC
Donor increased20800wt: 0.39 / mu: 0.99wt: GGCCCCGTGACCCCC
mu: GGCCCCGTGAACCCC		 CCCC|gtga
distance from splice site 99
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      187GFQALFPVGPVTPSHRWRFTCYYY
mutated  not conserved    187FPVGPVNPSHRWRFTCYY
Ptroglodytes  all identical  ENSPTRG00000011451  187FPVGPVTPSHRWTFRCYY
Mmulatta  all identical  ENSMMUG00000021880  187FPVGPVTPSHRWTFRCYY
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)featuredetails 
24443TOPO_DOMExtracellular (Potential).lost
111229DOMAINIg-like C2-type 2.lost
187187CONFLICTT -> N (in Ref. 1; AAB68668, 2; AAB87667 and 3; AAP30716).lost
196196DISULFIDBy similarity.might get lost (downstream of altered splice site)
201201CONFLICTT -> M (in Ref. 1; AAB68668 and 2; AAB87667).might get lost (downstream of altered splice site)
205205CONFLICTW -> R (in Ref. 2; AAB87667).might get lost (downstream of altered splice site)
225314DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
245245DISULFIDPotential.might get lost (downstream of altered splice site)
252252CONFLICTN -> D (in Ref. 1; AAB68668 and 2; AAB87667).might get lost (downstream of altered splice site)
263263CONFLICTD -> A (in Ref. 3; AAP30716).might get lost (downstream of altered splice site)
268268CONFLICTP -> S (in Ref. 3; AAP30716).might get lost (downstream of altered splice site)
280280CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
290290CONFLICTN -> H (in Ref. 1; AAB68668).might get lost (downstream of altered splice site)
296296DISULFIDPotential.might get lost (downstream of altered splice site)
301301CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
338419DOMAINIg-like C2-type 4.might get lost (downstream of altered splice site)
340340CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
345345DISULFIDPotential.might get lost (downstream of altered splice site)
396396DISULFIDPotential.might get lost (downstream of altered splice site)
409409CONFLICTH -> F (in Ref. 1; AAB68668).might get lost (downstream of altered splice site)
417417CONFLICTV -> M (in Ref. 1; AAB68668).might get lost (downstream of altered splice site)
444464TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
465631TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
480480MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
512517MOTIFITIM motif 1.might get lost (downstream of altered splice site)
525525CONFLICTR -> G (in Ref. 2; AAB87667).might get lost (downstream of altered splice site)
561561CONFLICTS -> P (in Ref. 2; AAB87667).might get lost (downstream of altered splice site)
593598MOTIFITIM motif 2.might get lost (downstream of altered splice site)
595595MOD_RESPhosphotyrosine; by LYN (By similarity).might get lost (downstream of altered splice site)
623628MOTIFITIM motif 3.might get lost (downstream of altered splice site)
625625MOD_RESPhosphotyrosine; 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 19
strand -1
last intron/exon boundary 1861
theoretical NMD boundary in CDS 1699
length of CDS 1896
coding sequence (CDS) position 560
cDNA position
(for ins/del: last normal base / first normal base)		 671
gDNA position
(for ins/del: last normal base / first normal base)		 20805
chromosomal position
(for ins/del: last normal base / first normal base)		 54725798
original gDNA sequence snippet GTTCCCTGTGGGCCCCGTGACCCCCAGCCACAGGTGGAGGT
altered gDNA sequence snippet GTTCCCTGTGGGCCCCGTGAACCCCAGCCACAGGTGGAGGT
original cDNA sequence snippet GTTCCCTGTGGGCCCCGTGACCCCCAGCCACAGGTGGAGGT
altered cDNA sequence snippet GTTCCCTGTGGGCCCCGTGAACCCCAGCCACAGGTGGAGGT
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
FPVGPVNPSH 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*
speed 1.21 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999998618882135 (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) chr19:54725798G>TN/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 intron
DNA changes g.21333C>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs75069054
databasehomozygous (T/T)heterozygousallele carriers
1000G68412841968
ExAC56801042916109
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2590.001
-0.3680.001
(flanking)1.6410.003
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased21332wt: 0.33 / mu: 0.60wt: TGTTCCCTGTGGGCCCCGTGACCCCCAGCCACAGGTGGAGG
mu: TGTTCCCTGTGGGCCCCGTGAACCCCAGCCACAGGTGGAGG		 gtga|CCCC
Donor increased21328wt: 0.39 / mu: 0.99wt: GGCCCCGTGACCCCC
mu: GGCCCCGTGAACCCC		 CCCC|gtga
distance from splice site 1098
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
24447TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
323408DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
340340CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
345345DISULFIDBy similarity.might get lost (downstream of altered splice site)
396396DISULFIDBy similarity.might get lost (downstream of altered splice site)
448468TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
469481TOPO_DOMCytoplasmic (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 50 / 50
chromosome 19
strand -1
last intron/exon boundary 1799
theoretical NMD boundary in CDS 1699
length of CDS 1896
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)		 21333
chromosomal position
(for ins/del: last normal base / first normal base)		 54725798
original gDNA sequence snippet GTTCCCTGTGGGCCCCGTGACCCCCAGCCACAGGTGGAGGT
altered gDNA sequence snippet GTTCCCTGTGGGCCCCGTGAACCCCAGCCACAGGTGGAGGT
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 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 N/A
speed 1.04 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999998618882135 (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) chr19:54725798G>TN/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 intron
DNA changes g.21333C>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs75069054
databasehomozygous (T/T)heterozygousallele carriers
1000G68412841968
ExAC56801042916109
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2590.001
-0.3680.001
(flanking)1.6410.003
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased21332wt: 0.33 / mu: 0.60wt: TGTTCCCTGTGGGCCCCGTGACCCCCAGCCACAGGTGGAGG
mu: TGTTCCCTGTGGGCCCCGTGAACCCCAGCCACAGGTGGAGG		 gtga|CCCC
Donor increased21328wt: 0.39 / mu: 0.99wt: GGCCCCGTGACCCCC
mu: GGCCCCGTGAACCCC		 CCCC|gtga
distance from splice site 547
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
24447TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
225314DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
245245DISULFIDBy similarity.might get lost (downstream of altered splice site)
296296DISULFIDBy similarity.might get lost (downstream of altered splice site)
301301CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
323408DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
340340CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
345345DISULFIDBy similarity.might get lost (downstream of altered splice site)
396396DISULFIDBy similarity.might get lost (downstream of altered splice site)
448468TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
469481TOPO_DOMCytoplasmic (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 19
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)		 21333
chromosomal position
(for ins/del: last normal base / first normal base)		 54725798
original gDNA sequence snippet GTTCCCTGTGGGCCCCGTGACCCCCAGCCACAGGTGGAGGT
altered gDNA sequence snippet GTTCCCTGTGGGCCCCGTGAACCCCAGCCACAGGTGGAGGT
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 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 N/A
speed 0.91 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999998618882135 (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) chr19:54725798G>TN/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.21333C>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs75069054
databasehomozygous (T/T)heterozygousallele carriers
1000G68412841968
ExAC56801042916109
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2590.001
-0.3680.001
(flanking)1.6410.003
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)
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased21332wt: 0.33 / mu: 0.60wt: TGTTCCCTGTGGGCCCCGTGACCCCCAGCCACAGGTGGAGG
mu: TGTTCCCTGTGGGCCCCGTGAACCCCAGCCACAGGTGGAGG		 gtga|CCCC
Donor increased21328wt: 0.39 / mu: 0.99wt: GGCCCCGTGACCCCC
mu: GGCCCCGTGAACCCC		 CCCC|gtga
distance from splice site 2684
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 19
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)		 21333
chromosomal position
(for ins/del: last normal base / first normal base)		 54725798
original gDNA sequence snippet GTTCCCTGTGGGCCCCGTGACCCCCAGCCACAGGTGGAGGT
altered gDNA sequence snippet GTTCCCTGTGGGCCCCGTGAACCCCAGCCACAGGTGGAGGT
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 0.95 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999998618882135 (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) chr19:54725798G>TN/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.21333C>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs75069054
databasehomozygous (T/T)heterozygousallele carriers
1000G68412841968
ExAC56801042916109
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2590.001
-0.3680.001
(flanking)1.6410.003
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased21332wt: 0.33 / mu: 0.60wt: TGTTCCCTGTGGGCCCCGTGACCCCCAGCCACAGGTGGAGG
mu: TGTTCCCTGTGGGCCCCGTGAACCCCAGCCACAGGTGGAGG		 gtga|CCCC
Donor increased21328wt: 0.39 / mu: 0.99wt: GGCCCCGTGACCCCC
mu: GGCCCCGTGAACCCC		 CCCC|gtga
distance from splice site 2684
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
24447TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
448468TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
469481TOPO_DOMCytoplasmic (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 19
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)		 21333
chromosomal position
(for ins/del: last normal base / first normal base)		 54725798
original gDNA sequence snippet GTTCCCTGTGGGCCCCGTGACCCCCAGCCACAGGTGGAGGT
altered gDNA sequence snippet GTTCCCTGTGGGCCCCGTGAACCCCAGCCACAGGTGGAGGT
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 0.64 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

Problems