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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000391748
Querying Taster for transcript #2: ENST00000314446
Querying Taster for transcript #3: ENST00000391749
Querying Taster for transcript #4: ENST00000391746
Querying Taster for transcript #5: ENST00000434421
MT speed 0 s - this script 4.655502 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
LILRB2polymorphism_automatic1.08202335979968e-12simple_aaeH300Ysingle base exchangers7247538show file
LILRB2polymorphism_automatic1.08202335979968e-12simple_aaeH300Ysingle base exchangers7247538show file
LILRB2polymorphism_automatic1.08202335979968e-12simple_aaeH300Ysingle base exchangers7247538show file
LILRB2polymorphism_automatic1.08202335979968e-12simple_aaeH300Ysingle base exchangers7247538show file
LILRB2polymorphism_automatic1.08202335979968e-12simple_aaeH184Ysingle base exchangers7247538show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998918 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:54782724G>AN/A show variant in all transcripts   IGV
HGNC symbol LILRB2
Ensembl transcript ID ENST00000391748
Genbank transcript ID NM_001080978
UniProt peptide Q8N423
alteration type single base exchange
alteration region CDS
DNA changes c.898C>T
cDNA.1026C>T
g.2316C>T
AA changes H300Y Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 300
frameshift no
known variant Reference ID: rs7247538
databasehomozygous (A/A)heterozygousallele carriers
1000G3509531303
ExAC13619552919148
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0980
-0.0530
(flanking)-1.1510
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 58
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      300SYGGQYRCYGAHNLSSECSAPSDP
mutated  all conserved    300SYGGQYRCYGAYNLSSECSAPSD
Ptroglodytes  all identical  ENSPTRG00000011453  300SHGGQYRCCGAHNLSSEWSAPSD
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
22461TOPO_DOMExtracellular (Potential).lost
230318DOMAINIg-like C2-type 3.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1794 / 1794
position (AA) of stopcodon in wt / mu AA sequence 598 / 598
position of stopcodon in wt / mu cDNA 1922 / 1922
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 129 / 129
chromosome 19
strand -1
last intron/exon boundary 1776
theoretical NMD boundary in CDS 1597
length of CDS 1794
coding sequence (CDS) position 898
cDNA position
(for ins/del: last normal base / first normal base)		 1026
gDNA position
(for ins/del: last normal base / first normal base)		 2316
chromosomal position
(for ins/del: last normal base / first normal base)		 54782724
original gDNA sequence snippet AGTACAGATGCTACGGTGCACACAACCTCTCCTCTGAGTGC
altered gDNA sequence snippet AGTACAGATGCTACGGTGCATACAACCTCTCCTCTGAGTGC
original cDNA sequence snippet AGTACAGATGCTACGGTGCACACAACCTCTCCTCTGAGTGC
altered cDNA sequence snippet AGTACAGATGCTACGGTGCATACAACCTCTCCTCTGAGTGC
wildtype AA sequence MTPIVTVLIC LGLSLGPRTH VQTGTIPKPT LWAEPDSVIT QGSPVTLSCQ GSLEAQEYRL
YREKKSASWI TRIRPELVKN GQFHIPSITW EHTGRYGCQY YSRARWSELS DPLVLVMTGA
YPKPTLSAQP SPVVTSGGRV TLQCESQVAF GGFILCKEGE EEHPQCLNSQ PHARGSSRAI
FSVGPVSPNR RWSHRCYGYD LNSPYVWSSP SDLLELLVPG VSKKPSLSVQ PGPVVAPGES
LTLQCVSDVG YDRFVLYKEG ERDLRQLPGR QPQAGLSQAN FTLGPVSRSY GGQYRCYGAH
NLSSECSAPS DPLDILITGQ IRGTPFISVQ PGPTVASGEN VTLLCQSWRQ FHTFLLTKAG
AADAPLRLRS IHEYPKYQAE FPMSPVTSAH AGTYRCYGSL NSDPYLLSHP SEPLELVVSG
PSMGSSPPPT GPISTPGPED QPLTPTGSDP QSGLGRHLGV VIGILVAVVL LLLLLLLLFL
ILRHRRQGKH WTSTQRKADF QHPAGAVGPE PTDRGLQWRS SPAADAQEEN LYAAVKDTQP
EDGVEMDTRA AASEAPQDVT YAQLHSLTLR RKATEPPPSQ EREPPAEPSI YATLAIH*
mutated AA sequence MTPIVTVLIC LGLSLGPRTH VQTGTIPKPT LWAEPDSVIT QGSPVTLSCQ GSLEAQEYRL
YREKKSASWI TRIRPELVKN GQFHIPSITW EHTGRYGCQY YSRARWSELS DPLVLVMTGA
YPKPTLSAQP SPVVTSGGRV TLQCESQVAF GGFILCKEGE EEHPQCLNSQ PHARGSSRAI
FSVGPVSPNR RWSHRCYGYD LNSPYVWSSP SDLLELLVPG VSKKPSLSVQ PGPVVAPGES
LTLQCVSDVG YDRFVLYKEG ERDLRQLPGR QPQAGLSQAN FTLGPVSRSY GGQYRCYGAY
NLSSECSAPS DPLDILITGQ IRGTPFISVQ PGPTVASGEN VTLLCQSWRQ FHTFLLTKAG
AADAPLRLRS IHEYPKYQAE FPMSPVTSAH AGTYRCYGSL NSDPYLLSHP SEPLELVVSG
PSMGSSPPPT GPISTPGPED QPLTPTGSDP QSGLGRHLGV VIGILVAVVL LLLLLLLLFL
ILRHRRQGKH WTSTQRKADF QHPAGAVGPE PTDRGLQWRS SPAADAQEEN LYAAVKDTQP
EDGVEMDTRA AASEAPQDVT YAQLHSLTLR RKATEPPPSQ EREPPAEPSI YATLAIH*
speed 0.52 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: 0.999999999998918 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:54782724G>AN/A show variant in all transcripts   IGV
HGNC symbol LILRB2
Ensembl transcript ID ENST00000391749
Genbank transcript ID NM_005874
UniProt peptide Q8N423
alteration type single base exchange
alteration region CDS
DNA changes c.898C>T
cDNA.1170C>T
g.2316C>T
AA changes H300Y Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 300
frameshift no
known variant Reference ID: rs7247538
databasehomozygous (A/A)heterozygousallele carriers
1000G3509531303
ExAC13619552919148
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0980
-0.0530
(flanking)-1.1510
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 58
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      300SYGGQYRCYGAHNLSSECSAPSDP
mutated  all conserved    300SYGGQYRCYGAYNLSSECSAPSD
Ptroglodytes  all identical  ENSPTRG00000011453  300SHGGQYRCCGAHNLSSEWSAPSD
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
22461TOPO_DOMExtracellular (Potential).lost
230318DOMAINIg-like C2-type 3.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1797 / 1797
position (AA) of stopcodon in wt / mu AA sequence 599 / 599
position of stopcodon in wt / mu cDNA 2069 / 2069
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 273 / 273
chromosome 19
strand -1
last intron/exon boundary 1923
theoretical NMD boundary in CDS 1600
length of CDS 1797
coding sequence (CDS) position 898
cDNA position
(for ins/del: last normal base / first normal base)		 1170
gDNA position
(for ins/del: last normal base / first normal base)		 2316
chromosomal position
(for ins/del: last normal base / first normal base)		 54782724
original gDNA sequence snippet AGTACAGATGCTACGGTGCACACAACCTCTCCTCTGAGTGC
altered gDNA sequence snippet AGTACAGATGCTACGGTGCATACAACCTCTCCTCTGAGTGC
original cDNA sequence snippet AGTACAGATGCTACGGTGCACACAACCTCTCCTCTGAGTGC
altered cDNA sequence snippet AGTACAGATGCTACGGTGCATACAACCTCTCCTCTGAGTGC
wildtype AA sequence MTPIVTVLIC LGLSLGPRTH VQTGTIPKPT LWAEPDSVIT QGSPVTLSCQ GSLEAQEYRL
YREKKSASWI TRIRPELVKN GQFHIPSITW EHTGRYGCQY YSRARWSELS DPLVLVMTGA
YPKPTLSAQP SPVVTSGGRV TLQCESQVAF GGFILCKEGE EEHPQCLNSQ PHARGSSRAI
FSVGPVSPNR RWSHRCYGYD LNSPYVWSSP SDLLELLVPG VSKKPSLSVQ PGPVVAPGES
LTLQCVSDVG YDRFVLYKEG ERDLRQLPGR QPQAGLSQAN FTLGPVSRSY GGQYRCYGAH
NLSSECSAPS DPLDILITGQ IRGTPFISVQ PGPTVASGEN VTLLCQSWRQ FHTFLLTKAG
AADAPLRLRS IHEYPKYQAE FPMSPVTSAH AGTYRCYGSL NSDPYLLSHP SEPLELVVSG
PSMGSSPPPT GPISTPAGPE DQPLTPTGSD PQSGLGRHLG VVIGILVAVV LLLLLLLLLF
LILRHRRQGK HWTSTQRKAD FQHPAGAVGP EPTDRGLQWR SSPAADAQEE NLYAAVKDTQ
PEDGVEMDTR AAASEAPQDV TYAQLHSLTL RRKATEPPPS QEREPPAEPS IYATLAIH*
mutated AA sequence MTPIVTVLIC LGLSLGPRTH VQTGTIPKPT LWAEPDSVIT QGSPVTLSCQ GSLEAQEYRL
YREKKSASWI TRIRPELVKN GQFHIPSITW EHTGRYGCQY YSRARWSELS DPLVLVMTGA
YPKPTLSAQP SPVVTSGGRV TLQCESQVAF GGFILCKEGE EEHPQCLNSQ PHARGSSRAI
FSVGPVSPNR RWSHRCYGYD LNSPYVWSSP SDLLELLVPG VSKKPSLSVQ PGPVVAPGES
LTLQCVSDVG YDRFVLYKEG ERDLRQLPGR QPQAGLSQAN FTLGPVSRSY GGQYRCYGAY
NLSSECSAPS DPLDILITGQ IRGTPFISVQ PGPTVASGEN VTLLCQSWRQ FHTFLLTKAG
AADAPLRLRS IHEYPKYQAE FPMSPVTSAH AGTYRCYGSL NSDPYLLSHP SEPLELVVSG
PSMGSSPPPT GPISTPAGPE DQPLTPTGSD PQSGLGRHLG VVIGILVAVV LLLLLLLLLF
LILRHRRQGK HWTSTQRKAD FQHPAGAVGP EPTDRGLQWR SSPAADAQEE NLYAAVKDTQ
PEDGVEMDTR AAASEAPQDV TYAQLHSLTL RRKATEPPPS QEREPPAEPS IYATLAIH*
speed 0.48 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: 0.999999999998918 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:54782724G>AN/A show variant in all transcripts   IGV
HGNC symbol LILRB2
Ensembl transcript ID ENST00000314446
Genbank transcript ID N/A
UniProt peptide Q8N423
alteration type single base exchange
alteration region CDS
DNA changes c.898C>T
cDNA.1170C>T
g.2316C>T
AA changes H300Y Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 300
frameshift no
known variant Reference ID: rs7247538
databasehomozygous (A/A)heterozygousallele carriers
1000G3509531303
ExAC13619552919148
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0980
-0.0530
(flanking)-1.1510
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 58
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      300SYGGQYRCYGAHNLSSECSAPSDP
mutated  all conserved    300SYGGQYRCYGAYNLSSECSAPSD
Ptroglodytes  all identical  ENSPTRG00000011453  300SHGGQYRCCGAHNLSSEWSAPSD
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
22461TOPO_DOMExtracellular (Potential).lost
230318DOMAINIg-like C2-type 3.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1794 / 1794
position (AA) of stopcodon in wt / mu AA sequence 598 / 598
position of stopcodon in wt / mu cDNA 2066 / 2066
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 273 / 273
chromosome 19
strand -1
last intron/exon boundary 1920
theoretical NMD boundary in CDS 1597
length of CDS 1794
coding sequence (CDS) position 898
cDNA position
(for ins/del: last normal base / first normal base)		 1170
gDNA position
(for ins/del: last normal base / first normal base)		 2316
chromosomal position
(for ins/del: last normal base / first normal base)		 54782724
original gDNA sequence snippet AGTACAGATGCTACGGTGCACACAACCTCTCCTCTGAGTGC
altered gDNA sequence snippet AGTACAGATGCTACGGTGCATACAACCTCTCCTCTGAGTGC
original cDNA sequence snippet AGTACAGATGCTACGGTGCACACAACCTCTCCTCTGAGTGC
altered cDNA sequence snippet AGTACAGATGCTACGGTGCATACAACCTCTCCTCTGAGTGC
wildtype AA sequence MTPIVTVLIC LGLSLGPRTH VQTGTIPKPT LWAEPDSVIT QGSPVTLSCQ GSLEAQEYRL
YREKKSASWI TRIRPELVKN GQFHIPSITW EHTGRYGCQY YSRARWSELS DPLVLVMTGA
YPKPTLSAQP SPVVTSGGRV TLQCESQVAF GGFILCKEGE EEHPQCLNSQ PHARGSSRAI
FSVGPVSPNR RWSHRCYGYD LNSPYVWSSP SDLLELLVPG VSKKPSLSVQ PGPVVAPGES
LTLQCVSDVG YDRFVLYKEG ERDLRQLPGR QPQAGLSQAN FTLGPVSRSY GGQYRCYGAH
NLSSECSAPS DPLDILITGQ IRGTPFISVQ PGPTVASGEN VTLLCQSWRQ FHTFLLTKAG
AADAPLRLRS IHEYPKYQAE FPMSPVTSAH AGTYRCYGSL NSDPYLLSHP SEPLELVVSG
PSMGSSPPPT GPISTPGPED QPLTPTGSDP QSGLGRHLGV VIGILVAVVL LLLLLLLLFL
ILRHRRQGKH WTSTQRKADF QHPAGAVGPE PTDRGLQWRS SPAADAQEEN LYAAVKDTQP
EDGVEMDTRA AASEAPQDVT YAQLHSLTLR RKATEPPPSQ EREPPAEPSI YATLAIH*
mutated AA sequence MTPIVTVLIC LGLSLGPRTH VQTGTIPKPT LWAEPDSVIT QGSPVTLSCQ GSLEAQEYRL
YREKKSASWI TRIRPELVKN GQFHIPSITW EHTGRYGCQY YSRARWSELS DPLVLVMTGA
YPKPTLSAQP SPVVTSGGRV TLQCESQVAF GGFILCKEGE EEHPQCLNSQ PHARGSSRAI
FSVGPVSPNR RWSHRCYGYD LNSPYVWSSP SDLLELLVPG VSKKPSLSVQ PGPVVAPGES
LTLQCVSDVG YDRFVLYKEG ERDLRQLPGR QPQAGLSQAN FTLGPVSRSY GGQYRCYGAY
NLSSECSAPS DPLDILITGQ IRGTPFISVQ PGPTVASGEN VTLLCQSWRQ FHTFLLTKAG
AADAPLRLRS IHEYPKYQAE FPMSPVTSAH AGTYRCYGSL NSDPYLLSHP SEPLELVVSG
PSMGSSPPPT GPISTPGPED QPLTPTGSDP QSGLGRHLGV VIGILVAVVL LLLLLLLLFL
ILRHRRQGKH WTSTQRKADF QHPAGAVGPE PTDRGLQWRS SPAADAQEEN LYAAVKDTQP
EDGVEMDTRA AASEAPQDVT YAQLHSLTLR RKATEPPPSQ EREPPAEPSI YATLAIH*
speed 1.28 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: 0.999999999998918 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:54782724G>AN/A show variant in all transcripts   IGV
HGNC symbol LILRB2
Ensembl transcript ID ENST00000391746
Genbank transcript ID N/A
UniProt peptide Q8N423
alteration type single base exchange
alteration region CDS
DNA changes c.898C>T
cDNA.900C>T
g.2316C>T
AA changes H300Y Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 300
frameshift no
known variant Reference ID: rs7247538
databasehomozygous (A/A)heterozygousallele carriers
1000G3509531303
ExAC13619552919148
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0980
-0.0530
(flanking)-1.1510
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 58
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      300SYGGQYRCYGAHNLSSECSAPSDP
mutated  all conserved    300SYGGQYRCYGAYNLSSECSAPSD
Ptroglodytes  all identical  ENSPTRG00000011453  300SHGGQYRCCGAHNLSSEWSAPSD
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
22461TOPO_DOMExtracellular (Potential).lost
230318DOMAINIg-like C2-type 3.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1533 / 1533
position (AA) of stopcodon in wt / mu AA sequence 511 / 511
position of stopcodon in wt / mu cDNA 1535 / 1535
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 3 / 3
chromosome 19
strand -1
last intron/exon boundary 1577
theoretical NMD boundary in CDS 1524
length of CDS 1533
coding sequence (CDS) position 898
cDNA position
(for ins/del: last normal base / first normal base)		 900
gDNA position
(for ins/del: last normal base / first normal base)		 2316
chromosomal position
(for ins/del: last normal base / first normal base)		 54782724
original gDNA sequence snippet AGTACAGATGCTACGGTGCACACAACCTCTCCTCTGAGTGC
altered gDNA sequence snippet AGTACAGATGCTACGGTGCATACAACCTCTCCTCTGAGTGC
original cDNA sequence snippet AGTACAGATGCTACGGTGCACACAACCTCTCCTCTGAGTGC
altered cDNA sequence snippet AGTACAGATGCTACGGTGCATACAACCTCTCCTCTGAGTGC
wildtype AA sequence MTPIVTVLIC LGLSLGPRTH VQTGTIPKPT LWAEPDSVIT QGSPVTLSCQ GSLEAQEYRL
YREKKSASWI TRIRPELVKN GQFHIPSITW EHTGRYGCQY YSRARWSELS DPLVLVMTGA
YPKPTLSAQP SPVVTSGGRV TLQCESQVAF GGFILCKEGE EEHPQCLNSQ PHARGSSRAI
FSVGPVSPNR RWSHRCYGYD LNSPYVWSSP SDLLELLVPG VSKKPSLSVQ PGPVVAPGES
LTLQCVSDVG YDRFVLYKEG ERDLRQLPGR QPQAGLSQAN FTLGPVSRSY GGQYRCYGAH
NLSSECSAPS DPLDILITGQ IRGTPFISVQ PGPTVASGEN VTLLCQSWRQ FHTFLLTKAG
AADAPLRLRS IHEYPKYQAE FPMSPVTSAH AGTYRCYGSL NSDPYLLSHP SEPLELVVSG
PSMGSSPPPT GPISTPAGPE DQPLTPTGSD PQSGLGRHLG VVIGILVAVV LLLLLLLLLF
LILRHRRQGK HWTSSPAQLP TPRKKTSMLP *
mutated AA sequence MTPIVTVLIC LGLSLGPRTH VQTGTIPKPT LWAEPDSVIT QGSPVTLSCQ GSLEAQEYRL
YREKKSASWI TRIRPELVKN GQFHIPSITW EHTGRYGCQY YSRARWSELS DPLVLVMTGA
YPKPTLSAQP SPVVTSGGRV TLQCESQVAF GGFILCKEGE EEHPQCLNSQ PHARGSSRAI
FSVGPVSPNR RWSHRCYGYD LNSPYVWSSP SDLLELLVPG VSKKPSLSVQ PGPVVAPGES
LTLQCVSDVG YDRFVLYKEG ERDLRQLPGR QPQAGLSQAN FTLGPVSRSY GGQYRCYGAY
NLSSECSAPS DPLDILITGQ IRGTPFISVQ PGPTVASGEN VTLLCQSWRQ FHTFLLTKAG
AADAPLRLRS IHEYPKYQAE FPMSPVTSAH AGTYRCYGSL NSDPYLLSHP SEPLELVVSG
PSMGSSPPPT GPISTPAGPE DQPLTPTGSD PQSGLGRHLG VVIGILVAVV LLLLLLLLLF
LILRHRRQGK HWTSSPAQLP TPRKKTSMLP *
speed 0.51 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: 0.999999999998918 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:54782724G>AN/A show variant in all transcripts   IGV
HGNC symbol LILRB2
Ensembl transcript ID ENST00000434421
Genbank transcript ID N/A
UniProt peptide Q8N423
alteration type single base exchange
alteration region CDS
DNA changes c.550C>T
cDNA.991C>T
g.2316C>T
AA changes H184Y Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 184
frameshift no
known variant Reference ID: rs7247538
databasehomozygous (A/A)heterozygousallele carriers
1000G3509531303
ExAC13619552919148
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0980
-0.0530
(flanking)-1.1510
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 58
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      184SYGGQYRCYGAHNLSSECSAPSDP
mutated  all conserved    184YGAYNLSSECSAPSD
Ptroglodytes  all identical  ENSPTRG00000011453  300CGAHNLSSEWSAPSD
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
22461TOPO_DOMExtracellular (Potential).lost
111229DOMAINIg-like C2-type 2.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1449 / 1449
position (AA) of stopcodon in wt / mu AA sequence 483 / 483
position of stopcodon in wt / mu cDNA 1890 / 1890
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 442 / 442
chromosome 19
strand -1
last intron/exon boundary 1744
theoretical NMD boundary in CDS 1252
length of CDS 1449
coding sequence (CDS) position 550
cDNA position
(for ins/del: last normal base / first normal base)		 991
gDNA position
(for ins/del: last normal base / first normal base)		 2316
chromosomal position
(for ins/del: last normal base / first normal base)		 54782724
original gDNA sequence snippet AGTACAGATGCTACGGTGCACACAACCTCTCCTCTGAGTGC
altered gDNA sequence snippet AGTACAGATGCTACGGTGCATACAACCTCTCCTCTGAGTGC
original cDNA sequence snippet AGTACAGATGCTACGGTGCACACAACCTCTCCTCTGAGTGC
altered cDNA sequence snippet AGTACAGATGCTACGGTGCATACAACCTCTCCTCTGAGTGC
wildtype AA sequence MTGAYPKPTL SAQPSPVVTS GGRVTLQCES QVAFGGFILC KEGEEEHPQC LNSQPHARGS
SRAIFSVGPV SPNRRWSHRC YGYDLNSPYV WSSPSDLLEL LVPGVSKKPS LSVQPGPVVA
PGESLTLQCV SDVGYDRFVL YKEGERDLRQ LPGRQPQAGL SQANFTLGPV SRSYGGQYRC
YGAHNLSSEC SAPSDPLDIL ITGQIRGTPF ISVQPGPTVA SGENVTLLCQ SWRQFHTFLL
TKAGAADAPL RLRSIHEYPK YQAEFPMSPV TSAHAGTYRC YGSLNSDPYL LSHPSEPLEL
VVSGPSMGSS PPPTGPISTP AGPEDQPLTP TGSDPQSGLG RHLGVVIGIL VAVVLLLLLL
LLLFLILRHR RQGKHWTSTQ RKADFQHPAG AVGPEPTDRG LQWRSSPAAD AQEENLYAAV
KDTQPEDGVE MDTRAAASEA PQDVTYAQLH SLTLRRKATE PPPSQEREPP AEPSIYATLA
IH*
mutated AA sequence MTGAYPKPTL SAQPSPVVTS GGRVTLQCES QVAFGGFILC KEGEEEHPQC LNSQPHARGS
SRAIFSVGPV SPNRRWSHRC YGYDLNSPYV WSSPSDLLEL LVPGVSKKPS LSVQPGPVVA
PGESLTLQCV SDVGYDRFVL YKEGERDLRQ LPGRQPQAGL SQANFTLGPV SRSYGGQYRC
YGAYNLSSEC SAPSDPLDIL ITGQIRGTPF ISVQPGPTVA SGENVTLLCQ SWRQFHTFLL
TKAGAADAPL RLRSIHEYPK YQAEFPMSPV TSAHAGTYRC YGSLNSDPYL LSHPSEPLEL
VVSGPSMGSS PPPTGPISTP AGPEDQPLTP TGSDPQSGLG RHLGVVIGIL VAVVLLLLLL
LLLFLILRHR RQGKHWTSTQ RKADFQHPAG AVGPEPTDRG LQWRSSPAAD AQEENLYAAV
KDTQPEDGVE MDTRAAASEA PQDVTYAQLH SLTLRRKATE PPPSQEREPP AEPSIYATLA
IH*
speed 1.31 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