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 4.060666 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
LILRB2polymorphism_automatic2.55018228756398e-13simple_aaeH20Rsingle base exchangers383369show file
LILRB2polymorphism_automatic2.55018228756398e-13simple_aaeH20Rsingle base exchangers383369show file
LILRB2polymorphism_automatic2.55018228756398e-13simple_aaeH20Rsingle base exchangers383369show file
LILRB2polymorphism_automatic2.55018228756398e-13simple_aaeH20Rsingle base exchangers383369show file
LILRB2polymorphism_automatic1.20243435985934e-07without_aaesingle base exchangers383369show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999745 (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) chr19:54784130T>CN/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.59A>G
cDNA.187A>G
g.910A>G
AA changes H20R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 20
frameshift no
known variant Reference ID: rs383369
databasehomozygous (C/C)heterozygousallele carriers
1000G255662917
ExAC45751889423469
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.0250
-0.50
(flanking)0.5840.002
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 12
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      20ICLGLSLGPRTHVQTGTIPKPTLW
mutated  not conserved    20ICLGLSLGPRTRVQTGTIPKPTL
Ptroglodytes  all identical  ENSPTRG00000011453  20ICLGLSLGPRTHVQAGTLPKPTL
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 
121SIGNALPotential.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 59
cDNA position
(for ins/del: last normal base / first normal base)		 187
gDNA position
(for ins/del: last normal base / first normal base)		 910
chromosomal position
(for ins/del: last normal base / first normal base)		 54784130
original gDNA sequence snippet GAGTCTGGGCCCCAGGACCCACGTGCAGACAGGTGAGTCTG
altered gDNA sequence snippet GAGTCTGGGCCCCAGGACCCGCGTGCAGACAGGTGAGTCTG
original cDNA sequence snippet GAGTCTGGGCCCCAGGACCCACGTGCAGACAGGGACCATTC
altered cDNA sequence snippet GAGTCTGGGCCCCAGGACCCGCGTGCAGACAGGGACCATTC
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 LGLSLGPRTR 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*
speed 0.50 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: 0.999999999999745 (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) chr19:54784130T>CN/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.59A>G
cDNA.331A>G
g.910A>G
AA changes H20R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 20
frameshift no
known variant Reference ID: rs383369
databasehomozygous (C/C)heterozygousallele carriers
1000G255662917
ExAC45751889423469
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.0250
-0.50
(flanking)0.5840.002
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 12
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      20ICLGLSLGPRTHVQTGTIPKPTLW
mutated  not conserved    20ICLGLSLGPRTRVQTGTIPKPTL
Ptroglodytes  all identical  ENSPTRG00000011453  20ICLGLSLGPRTHVQAGTLPKPTL
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 
121SIGNALPotential.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 59
cDNA position
(for ins/del: last normal base / first normal base)		 331
gDNA position
(for ins/del: last normal base / first normal base)		 910
chromosomal position
(for ins/del: last normal base / first normal base)		 54784130
original gDNA sequence snippet GAGTCTGGGCCCCAGGACCCACGTGCAGACAGGTGAGTCTG
altered gDNA sequence snippet GAGTCTGGGCCCCAGGACCCGCGTGCAGACAGGTGAGTCTG
original cDNA sequence snippet GAGTCTGGGCCCCAGGACCCACGTGCAGACAGGGACCATTC
altered cDNA sequence snippet GAGTCTGGGCCCCAGGACCCGCGTGCAGACAGGGACCATTC
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 LGLSLGPRTR 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*
speed 0.86 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: 0.999999999999745 (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) chr19:54784130T>CN/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.59A>G
cDNA.331A>G
g.910A>G
AA changes H20R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 20
frameshift no
known variant Reference ID: rs383369
databasehomozygous (C/C)heterozygousallele carriers
1000G255662917
ExAC45751889423469
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.0250
-0.50
(flanking)0.5840.002
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 12
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      20ICLGLSLGPRTHVQTGTIPKPTLW
mutated  not conserved    20ICLGLSLGPRTRVQTGTIPKPTL
Ptroglodytes  all identical  ENSPTRG00000011453  20ICLGLSLGPRTHVQAGTLPKPTL
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 
121SIGNALPotential.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 59
cDNA position
(for ins/del: last normal base / first normal base)		 331
gDNA position
(for ins/del: last normal base / first normal base)		 910
chromosomal position
(for ins/del: last normal base / first normal base)		 54784130
original gDNA sequence snippet GAGTCTGGGCCCCAGGACCCACGTGCAGACAGGTGAGTCTG
altered gDNA sequence snippet GAGTCTGGGCCCCAGGACCCGCGTGCAGACAGGTGAGTCTG
original cDNA sequence snippet GAGTCTGGGCCCCAGGACCCACGTGCAGACAGGGACCATTC
altered cDNA sequence snippet GAGTCTGGGCCCCAGGACCCGCGTGCAGACAGGGACCATTC
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 LGLSLGPRTR 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*
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: 0.999999999999745 (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) chr19:54784130T>CN/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.59A>G
cDNA.61A>G
g.910A>G
AA changes H20R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 20
frameshift no
known variant Reference ID: rs383369
databasehomozygous (C/C)heterozygousallele carriers
1000G255662917
ExAC45751889423469
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.0250
-0.50
(flanking)0.5840.002
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 12
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      20ICLGLSLGPRTHVQTGTIPKPTLW
mutated  not conserved    20ICLGLSLGPRTRVQTGTIPKPTL
Ptroglodytes  all identical  ENSPTRG00000011453  20ICLGLSLGPRTHVQAGTLPKPTL
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 
121SIGNALPotential.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 59
cDNA position
(for ins/del: last normal base / first normal base)		 61
gDNA position
(for ins/del: last normal base / first normal base)		 910
chromosomal position
(for ins/del: last normal base / first normal base)		 54784130
original gDNA sequence snippet GAGTCTGGGCCCCAGGACCCACGTGCAGACAGGTGAGTCTG
altered gDNA sequence snippet GAGTCTGGGCCCCAGGACCCGCGTGCAGACAGGTGAGTCTG
original cDNA sequence snippet GAGTCTGGGCCCCAGGACCCACGTGCAGACAGGGACCATTC
altered cDNA sequence snippet GAGTCTGGGCCCCAGGACCCGCGTGCAGACAGGGACCATTC
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 LGLSLGPRTR 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 *
speed 0.40 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: 0.999999879756564 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:54784130T>CN/A show variant in all transcripts   IGV
HGNC symbol LILRB2
Ensembl transcript ID ENST00000434421
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.910A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs383369
databasehomozygous (C/C)heterozygousallele carriers
1000G255662917
ExAC45751889423469
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.0250
-0.50
(flanking)0.5840.002
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splice sites no abrogation of potential splice sites
distance from splice site 188
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 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 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)		 910
chromosomal position
(for ins/del: last normal base / first normal base)		 54784130
original gDNA sequence snippet GAGTCTGGGCCCCAGGACCCACGTGCAGACAGGTGAGTCTG
altered gDNA sequence snippet GAGTCTGGGCCCCAGGACCCGCGTGCAGACAGGTGAGTCTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
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 N/A
speed 0.65 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
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Problems