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: ENST00000391736
Querying Taster for transcript #2: ENST00000430952
Querying Taster for transcript #3: ENST00000391734
Querying Taster for transcript #4: ENST00000391733
Querying Taster for transcript #5: ENST00000270452
MT speed 0 s - this script 5.735488 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
LILRB4polymorphism_automatic7.68995978006615e-12simple_aaeQ414Rsingle base exchangers1048801show file
LILRB4polymorphism_automatic7.68995978006615e-12simple_aaeQ413Rsingle base exchangers1048801show file
LILRB4polymorphism_automatic7.68995978006615e-12simple_aaeQ415Rsingle base exchangers1048801show file
LILRB4polymorphism_automatic7.68995978006615e-12simple_aaeQ414Rsingle base exchangers1048801show file
LILRB4polymorphism_automatic2.856309633259e-10simple_aaeQ361Rsingle base exchangers1048801show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999231 (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) chr19:55179364A>GN/A show variant in all transcripts   IGV
HGNC symbol LILRB4
Ensembl transcript ID ENST00000391736
Genbank transcript ID N/A
UniProt peptide Q8NHJ6
alteration type single base exchange
alteration region CDS
DNA changes c.1241A>G
cDNA.1556A>G
g.24025A>G
AA changes Q414R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 414
frameshift no
known variant Reference ID: rs1048801
databasehomozygous (G/G)heterozygousallele carriers
1000G36311621525
ExAC85921558324175
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3650.175
0.2470.091
(flanking)-0.9330.008
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 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      414ASEAPQDVTYAQLHSFTLRQKATE
mutated  all conserved    414ASEAPQDVTYARLHSFTL
Ptroglodytes  not conserved  ENSPTRG00000011468  413------------------
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000003601  602ASDAPPDVTYAQLNRLTLRRETS
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 
281448TOPO_DOMCytoplasmic (Potential).lost
410415MOTIFITIM motif 2.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1347 / 1347
position (AA) of stopcodon in wt / mu AA sequence 449 / 449
position of stopcodon in wt / mu cDNA 1662 / 1662
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 316 / 316
chromosome 19
strand 1
last intron/exon boundary 1516
theoretical NMD boundary in CDS 1150
length of CDS 1347
coding sequence (CDS) position 1241
cDNA position
(for ins/del: last normal base / first normal base)		 1556
gDNA position
(for ins/del: last normal base / first normal base)		 24025
chromosomal position
(for ins/del: last normal base / first normal base)		 55179364
original gDNA sequence snippet CCAGGATGTGACCTACGCCCAGCTGCACAGCTTTACCCTCA
altered gDNA sequence snippet CCAGGATGTGACCTACGCCCGGCTGCACAGCTTTACCCTCA
original cDNA sequence snippet CCAGGATGTGACCTACGCCCAGCTGCACAGCTTTACCCTCA
altered cDNA sequence snippet CCAGGATGTGACCTACGCCCGGCTGCACAGCTTTACCCTCA
wildtype AA sequence MIPTFTALLC LGLSLGPRTH MQAGPLPKPT LWAEPGSVIS WGNSVTIWCQ GTLEAREYRL
DKEESPAPWD RQNPLEPKNK ARFSIPSMTE DYAGRYRCYY RSPVGWSQPS DPLELVMTGA
YSKPTLSALP SPLVTSGKSV TLLCQSRSPM DTFLLIKERA AHPLLHLRSE HGAQQHQAEF
PMSPVTSVHG GTYRCFSSHG FSHYLLSHPS DPLELIVSGS LEDPRPSPTR SVSTAAGPED
QPLMPTGSVP HSGLRRHWEV LIGVLVVSIL LLSLLLFLLL QHWRQGKHRT LAQRQADFQR
PPGAAEPEPK DGGLQRRSSP AADVQGENFC AAVKNTQPED GVEMDTRQSP HDEDPQAVTY
AKVKHSRPRR EMASPPSPLS GEFLDTKDRQ AEEDRQMDTE AAASEAPQDV TYAQLHSFTL
RQKATEPPPS QEGASPAEPS VYATLAIH*
mutated AA sequence MIPTFTALLC LGLSLGPRTH MQAGPLPKPT LWAEPGSVIS WGNSVTIWCQ GTLEAREYRL
DKEESPAPWD RQNPLEPKNK ARFSIPSMTE DYAGRYRCYY RSPVGWSQPS DPLELVMTGA
YSKPTLSALP SPLVTSGKSV TLLCQSRSPM DTFLLIKERA AHPLLHLRSE HGAQQHQAEF
PMSPVTSVHG GTYRCFSSHG FSHYLLSHPS DPLELIVSGS LEDPRPSPTR SVSTAAGPED
QPLMPTGSVP HSGLRRHWEV LIGVLVVSIL LLSLLLFLLL QHWRQGKHRT LAQRQADFQR
PPGAAEPEPK DGGLQRRSSP AADVQGENFC AAVKNTQPED GVEMDTRQSP HDEDPQAVTY
AKVKHSRPRR EMASPPSPLS GEFLDTKDRQ AEEDRQMDTE AAASEAPQDV TYARLHSFTL
RQKATEPPPS QEGASPAEPS VYATLAIH*
speed 1.25 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: 0.99999999999231 (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) chr19:55179364A>GN/A show variant in all transcripts   IGV
HGNC symbol LILRB4
Ensembl transcript ID ENST00000430952
Genbank transcript ID NM_001081438
UniProt peptide Q8NHJ6
alteration type single base exchange
alteration region CDS
DNA changes c.1238A>G
cDNA.1277A>G
g.24025A>G
AA changes Q413R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 413
frameshift no
known variant Reference ID: rs1048801
databasehomozygous (G/G)heterozygousallele carriers
1000G36311621525
ExAC85921558324175
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3650.175
0.2470.091
(flanking)-0.9330.008
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 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      413ASEAPQDVTYAQLHSFTLRQKATE
mutated  all conserved    413ASEAPQDVTYARLHSFTLR
Ptroglodytes  not conserved  ENSPTRG00000011468  413-------------------
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000003601  603ASDAPPDVTYAQLNRLTLRRETS
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 
281448TOPO_DOMCytoplasmic (Potential).lost
410415MOTIFITIM motif 2.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1344 / 1344
position (AA) of stopcodon in wt / mu AA sequence 448 / 448
position of stopcodon in wt / mu cDNA 1383 / 1383
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 40 / 40
chromosome 19
strand 1
last intron/exon boundary 1237
theoretical NMD boundary in CDS 1147
length of CDS 1344
coding sequence (CDS) position 1238
cDNA position
(for ins/del: last normal base / first normal base)		 1277
gDNA position
(for ins/del: last normal base / first normal base)		 24025
chromosomal position
(for ins/del: last normal base / first normal base)		 55179364
original gDNA sequence snippet CCAGGATGTGACCTACGCCCAGCTGCACAGCTTTACCCTCA
altered gDNA sequence snippet CCAGGATGTGACCTACGCCCGGCTGCACAGCTTTACCCTCA
original cDNA sequence snippet CCAGGATGTGACCTACGCCCAGCTGCACAGCTTTACCCTCA
altered cDNA sequence snippet CCAGGATGTGACCTACGCCCGGCTGCACAGCTTTACCCTCA
wildtype AA sequence MIPTFTALLC LGLSLGPRTH MQAGPLPKPT LWAEPGSVIS WGNSVTIWCQ GTLEAREYRL
DKEESPAPWD RQNPLEPKNK ARFSIPSMTE DYAGRYRCYY RSPVGWSQPS DPLELVMTGA
YSKPTLSALP SPLVTSGKSV TLLCQSRSPM DTFLLIKERA AHPLLHLRSE HGAQQHQAEF
PMSPVTSVHG GTYRCFSSHG FSHYLLSHPS DPLELIVSGS LEDPRPSPTR SVSTAAGPED
QPLMPTGSVP HSGLRRHWEV LIGVLVVSIL LLSLLLFLLL QHWRQGKHRT LAQRQADFQR
PPGAAEPEPK DGGLQRRSSP AADVQGENFC AAVKNTQPED GVEMDTRSPH DEDPQAVTYA
KVKHSRPRRE MASPPSPLSG EFLDTKDRQA EEDRQMDTEA AASEAPQDVT YAQLHSFTLR
QKATEPPPSQ EGASPAEPSV YATLAIH*
mutated AA sequence MIPTFTALLC LGLSLGPRTH MQAGPLPKPT LWAEPGSVIS WGNSVTIWCQ GTLEAREYRL
DKEESPAPWD RQNPLEPKNK ARFSIPSMTE DYAGRYRCYY RSPVGWSQPS DPLELVMTGA
YSKPTLSALP SPLVTSGKSV TLLCQSRSPM DTFLLIKERA AHPLLHLRSE HGAQQHQAEF
PMSPVTSVHG GTYRCFSSHG FSHYLLSHPS DPLELIVSGS LEDPRPSPTR SVSTAAGPED
QPLMPTGSVP HSGLRRHWEV LIGVLVVSIL LLSLLLFLLL QHWRQGKHRT LAQRQADFQR
PPGAAEPEPK DGGLQRRSSP AADVQGENFC AAVKNTQPED GVEMDTRSPH DEDPQAVTYA
KVKHSRPRRE MASPPSPLSG EFLDTKDRQA EEDRQMDTEA AASEAPQDVT YARLHSFTLR
QKATEPPPSQ EGASPAEPSV YATLAIH*
speed 1.38 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: 0.99999999999231 (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) chr19:55179364A>GN/A show variant in all transcripts   IGV
HGNC symbol LILRB4
Ensembl transcript ID ENST00000391733
Genbank transcript ID N/A
UniProt peptide Q8NHJ6
alteration type single base exchange
alteration region CDS
DNA changes c.1244A>G
cDNA.1258A>G
g.24025A>G
AA changes Q415R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 415
frameshift no
known variant Reference ID: rs1048801
databasehomozygous (G/G)heterozygousallele carriers
1000G36311621525
ExAC85921558324175
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3650.175
0.2470.091
(flanking)-0.9330.008
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 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      415ASEAPQDVTYAQLHSFTLRQKATE
mutated  all conserved    415ASEAPQDVTYARLHSFT
Ptroglodytes  not conserved  ENSPTRG00000011468  413-----------------
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000003601  601ASDAPPDVTYAQLNRLTLRRETS
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 
281448TOPO_DOMCytoplasmic (Potential).lost
410415MOTIFITIM motif 2.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1350 / 1350
position (AA) of stopcodon in wt / mu AA sequence 450 / 450
position of stopcodon in wt / mu cDNA 1364 / 1364
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 15 / 15
chromosome 19
strand 1
last intron/exon boundary 1218
theoretical NMD boundary in CDS 1153
length of CDS 1350
coding sequence (CDS) position 1244
cDNA position
(for ins/del: last normal base / first normal base)		 1258
gDNA position
(for ins/del: last normal base / first normal base)		 24025
chromosomal position
(for ins/del: last normal base / first normal base)		 55179364
original gDNA sequence snippet CCAGGATGTGACCTACGCCCAGCTGCACAGCTTTACCCTCA
altered gDNA sequence snippet CCAGGATGTGACCTACGCCCGGCTGCACAGCTTTACCCTCA
original cDNA sequence snippet CCAGGATGTGACCTACGCCCAGCTGCACAGCTTTACCCTCA
altered cDNA sequence snippet CCAGGATGTGACCTACGCCCGGCTGCACAGCTTTACCCTCA
wildtype AA sequence MIPTFTALLC LGLSLGPRTH MQAGPLPKPT LWAEPGSVIS WGNSVTIWCQ GTLEAREYRL
DKEESPAPWD RQNPLEPKNK ARFSIPSMTE DYAGRYRCYY RSPVGWSQPS DPLELVMTGA
YSKPTLSALP SPLVTSGKSV TLLCQSRSPM DTFLLIKERA AHPLLHLRSE HGAQQHQAEF
PMSPVTSVHG GTYRCFSSHG FSHYLLSHPS DPLELIVSGS LEDPRPSPTR SVSTAAGPED
QPLMPTGSVP HSGLRRHWEV LIGVLVVSIL LLSLLLFLLL QHWRQGKHRT LAQRQADFQR
PPGAAEPEPK DGGLQRRSSP AADVQGENFS GAAVKNTQPE DGVEMDTRQS PHDEDPQAVT
YAKVKHSRPR REMASPPSPL SGEFLDTKDR QAEEDRQMDT EAAASEAPQD VTYAQLHSFT
LRQKATEPPP SQEGASPAEP SVYATLAIH*
mutated AA sequence MIPTFTALLC LGLSLGPRTH MQAGPLPKPT LWAEPGSVIS WGNSVTIWCQ GTLEAREYRL
DKEESPAPWD RQNPLEPKNK ARFSIPSMTE DYAGRYRCYY RSPVGWSQPS DPLELVMTGA
YSKPTLSALP SPLVTSGKSV TLLCQSRSPM DTFLLIKERA AHPLLHLRSE HGAQQHQAEF
PMSPVTSVHG GTYRCFSSHG FSHYLLSHPS DPLELIVSGS LEDPRPSPTR SVSTAAGPED
QPLMPTGSVP HSGLRRHWEV LIGVLVVSIL LLSLLLFLLL QHWRQGKHRT LAQRQADFQR
PPGAAEPEPK DGGLQRRSSP AADVQGENFS GAAVKNTQPE DGVEMDTRQS PHDEDPQAVT
YAKVKHSRPR REMASPPSPL SGEFLDTKDR QAEEDRQMDT EAAASEAPQD VTYARLHSFT
LRQKATEPPP SQEGASPAEP SVYATLAIH*
speed 0.99 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: 0.99999999999231 (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) chr19:55179364A>GN/A show variant in all transcripts   IGV
HGNC symbol LILRB4
Ensembl transcript ID ENST00000270452
Genbank transcript ID NM_006847
UniProt peptide Q8NHJ6
alteration type single base exchange
alteration region CDS
DNA changes c.1241A>G
cDNA.1603A>G
g.24025A>G
AA changes Q414R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 414
frameshift no
known variant Reference ID: rs1048801
databasehomozygous (G/G)heterozygousallele carriers
1000G36311621525
ExAC85921558324175
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3650.175
0.2470.091
(flanking)-0.9330.008
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 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      414ASEAPQDVTYAQLHSFTLRQKATE
mutated  all conserved    414ASEAPQDVTYARLHSFTL
Ptroglodytes  not conserved  ENSPTRG00000011468  413------------------
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000003601  602ASDAPPDVTYAQLNRLTLRRETS
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 
281448TOPO_DOMCytoplasmic (Potential).lost
410415MOTIFITIM motif 2.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1347 / 1347
position (AA) of stopcodon in wt / mu AA sequence 449 / 449
position of stopcodon in wt / mu cDNA 1709 / 1709
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 363 / 363
chromosome 19
strand 1
last intron/exon boundary 1563
theoretical NMD boundary in CDS 1150
length of CDS 1347
coding sequence (CDS) position 1241
cDNA position
(for ins/del: last normal base / first normal base)		 1603
gDNA position
(for ins/del: last normal base / first normal base)		 24025
chromosomal position
(for ins/del: last normal base / first normal base)		 55179364
original gDNA sequence snippet CCAGGATGTGACCTACGCCCAGCTGCACAGCTTTACCCTCA
altered gDNA sequence snippet CCAGGATGTGACCTACGCCCGGCTGCACAGCTTTACCCTCA
original cDNA sequence snippet CCAGGATGTGACCTACGCCCAGCTGCACAGCTTTACCCTCA
altered cDNA sequence snippet CCAGGATGTGACCTACGCCCGGCTGCACAGCTTTACCCTCA
wildtype AA sequence MIPTFTALLC LGLSLGPRTH MQAGPLPKPT LWAEPGSVIS WGNSVTIWCQ GTLEAREYRL
DKEESPAPWD RQNPLEPKNK ARFSIPSMTE DYAGRYRCYY RSPVGWSQPS DPLELVMTGA
YSKPTLSALP SPLVTSGKSV TLLCQSRSPM DTFLLIKERA AHPLLHLRSE HGAQQHQAEF
PMSPVTSVHG GTYRCFSSHG FSHYLLSHPS DPLELIVSGS LEDPRPSPTR SVSTAAGPED
QPLMPTGSVP HSGLRRHWEV LIGVLVVSIL LLSLLLFLLL QHWRQGKHRT LAQRQADFQR
PPGAAEPEPK DGGLQRRSSP AADVQGENFC AAVKNTQPED GVEMDTRQSP HDEDPQAVTY
AKVKHSRPRR EMASPPSPLS GEFLDTKDRQ AEEDRQMDTE AAASEAPQDV TYAQLHSFTL
RQKATEPPPS QEGASPAEPS VYATLAIH*
mutated AA sequence MIPTFTALLC LGLSLGPRTH MQAGPLPKPT LWAEPGSVIS WGNSVTIWCQ GTLEAREYRL
DKEESPAPWD RQNPLEPKNK ARFSIPSMTE DYAGRYRCYY RSPVGWSQPS DPLELVMTGA
YSKPTLSALP SPLVTSGKSV TLLCQSRSPM DTFLLIKERA AHPLLHLRSE HGAQQHQAEF
PMSPVTSVHG GTYRCFSSHG FSHYLLSHPS DPLELIVSGS LEDPRPSPTR SVSTAAGPED
QPLMPTGSVP HSGLRRHWEV LIGVLVVSIL LLSLLLFLLL QHWRQGKHRT LAQRQADFQR
PPGAAEPEPK DGGLQRRSSP AADVQGENFC AAVKNTQPED GVEMDTRQSP HDEDPQAVTY
AKVKHSRPRR EMASPPSPLS GEFLDTKDRQ AEEDRQMDTE AAASEAPQDV TYARLHSFTL
RQKATEPPPS QEGASPAEPS VYATLAIH*
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: 0.999999999714369 (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) chr19:55179364A>GN/A show variant in all transcripts   IGV
HGNC symbol LILRB4
Ensembl transcript ID ENST00000391734
Genbank transcript ID N/A
UniProt peptide Q8NHJ6
alteration type single base exchange
alteration region CDS
DNA changes c.1082A>G
cDNA.1118A>G
g.24025A>G
AA changes Q361R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 361
frameshift no
known variant Reference ID: rs1048801
databasehomozygous (G/G)heterozygousallele carriers
1000G36311621525
ExAC85921558324175
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3650.175
0.2470.091
(flanking)-0.9330.008
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 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      361ASEAPQDVTYAQLHSFTLRQKATE
mutated  all conserved    361RLHSFTLRQKAT
Ptroglodytes  all identical  ENSPTRG00000011468  361QLHSLTLRQKAT
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000003601  576ASDAPPDVTYAQLNRLTLRRETS
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 
281448TOPO_DOMCytoplasmic (Potential).lost
358363MOTIFITIM motif 1.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1188 / 1188
position (AA) of stopcodon in wt / mu AA sequence 396 / 396
position of stopcodon in wt / mu cDNA 1224 / 1224
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 37 / 37
chromosome 19
strand 1
last intron/exon boundary 1078
theoretical NMD boundary in CDS 991
length of CDS 1188
coding sequence (CDS) position 1082
cDNA position
(for ins/del: last normal base / first normal base)		 1118
gDNA position
(for ins/del: last normal base / first normal base)		 24025
chromosomal position
(for ins/del: last normal base / first normal base)		 55179364
original gDNA sequence snippet CCAGGATGTGACCTACGCCCAGCTGCACAGCTTTACCCTCA
altered gDNA sequence snippet CCAGGATGTGACCTACGCCCGGCTGCACAGCTTTACCCTCA
original cDNA sequence snippet CCAGGATGTGACCTACGCCCAGCTGCACAGCTTTACCCTCA
altered cDNA sequence snippet CCAGGATGTGACCTACGCCCGGCTGCACAGCTTTACCCTCA
wildtype AA sequence MIPTFTALLC LGLSLGPRTH MQAGPLPKPT LWAEPGSVIS WGNSVTIWCQ GTLEAREYRL
DKEESPAPWD RQNPLEPKNK ARFSIPSMTE DYAGRYRCYY RSPVGWSQPS DPLELVMTGA
YSKPTLSALP SPLVTSGKSV TLLCQSRSPM DTFLLIKERA AHPLLHLRSE HGAQQHQAEF
PMSPVTSVHG GTYRCFSSHG FSHYLLSHPS DPLELIVSGS LEDPRPSPTR SVSTAAGPED
QPLMPTGSVP HSGLRRHWEV LIGVLVVSIL LLSLLLFLLL QHWRQGKHRT LAQRQADFQR
PPGAAEPEPK DGGLQRRSSP AADVQGENFC AAVKNTQPED GVEMDTRAAA SEAPQDVTYA
QLHSFTLRQK ATEPPPSQEG ASPAEPSVYA TLAIH*
mutated AA sequence MIPTFTALLC LGLSLGPRTH MQAGPLPKPT LWAEPGSVIS WGNSVTIWCQ GTLEAREYRL
DKEESPAPWD RQNPLEPKNK ARFSIPSMTE DYAGRYRCYY RSPVGWSQPS DPLELVMTGA
YSKPTLSALP SPLVTSGKSV TLLCQSRSPM DTFLLIKERA AHPLLHLRSE HGAQQHQAEF
PMSPVTSVHG GTYRCFSSHG FSHYLLSHPS DPLELIVSGS LEDPRPSPTR SVSTAAGPED
QPLMPTGSVP HSGLRRHWEV LIGVLVVSIL LLSLLLFLLL QHWRQGKHRT LAQRQADFQR
PPGAAEPEPK DGGLQRRSSP AADVQGENFC AAVKNTQPED GVEMDTRAAA SEAPQDVTYA
RLHSFTLRQK ATEPPPSQEG ASPAEPSVYA TLAIH*
speed 1.17 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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