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 3.17 s - this script 4.326712 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
LILRB4polymorphism_automatic2.99760216648792e-14simple_aaeaffectedF5Lsingle base exchangers28366008show file
LILRB4polymorphism_automatic2.99760216648792e-14simple_aaeaffectedF5Lsingle base exchangers28366008show file
LILRB4polymorphism_automatic2.99760216648792e-14simple_aaeaffectedF5Lsingle base exchangers28366008show file
LILRB4polymorphism_automatic2.99760216648792e-14simple_aaeaffectedF5Lsingle base exchangers28366008show file
LILRB4polymorphism_automatic2.99760216648792e-14simple_aaeaffectedF5Lsingle base exchangers28366008show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999997 (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) chr19:55174498T>CN/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.13T>C
cDNA.328T>C
g.19159T>C
AA changes F5L Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 5
frameshift no
known variant Reference ID: rs28366008
databasehomozygous (C/C)heterozygousallele carriers
1000G25610131269
ExAC40792255026629
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.4840
-0.0540.003
(flanking)1.6270.018
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased19163wt: 0.8957 / mu: 0.9009 (marginal change - not scored)wt: CGCCATGATCCCCACCTTCACGGCTCTGCTCTGCCTCGGTG
mu: CGCCATGATCCCCACCCTCACGGCTCTGCTCTGCCTCGGTG		 tcac|GGCT
Donor increased19158wt: 0.30 / mu: 0.60wt: CCCACCTTCACGGCT
mu: CCCACCCTCACGGCT		 CACC|ttca
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      5 MIPTFTALLCLGLSLGP
mutated  not conserved    5 MIPTLTALLCLGLSLGPRTHMQ
Ptroglodytes  not conserved  ENSPTRG00000011468  5 MIPTLTALLCLGLSLGPRTHVQ
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000003601  5 MTPTLTTLLLLGLSVGPRTRAQ
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
22259TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
27118DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
3035STRANDmight get lost (downstream of altered splice site)
3740STRANDmight get lost (downstream of altered splice site)
4550STRANDmight get lost (downstream of altered splice site)
4949DISULFIDBy similarity.might get lost (downstream of altered splice site)
5762STRANDmight get lost (downstream of altered splice site)
6972STRANDmight get lost (downstream of altered splice site)
7687STRANDmight get lost (downstream of altered splice site)
9092HELIXmight get lost (downstream of altered splice site)
94102STRANDmight get lost (downstream of altered splice site)
9898DISULFIDBy similarity.might get lost (downstream of altered splice site)
105107STRANDmight get lost (downstream of altered splice site)
113118STRANDmight get lost (downstream of altered splice site)
124218DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
125130STRANDmight get lost (downstream of altered splice site)
132135STRANDmight get lost (downstream of altered splice site)
140157STRANDmight get lost (downstream of altered splice site)
144144DISULFIDBy similarity.might get lost (downstream of altered splice site)
163165HELIXmight get lost (downstream of altered splice site)
166182STRANDmight get lost (downstream of altered splice site)
187189HELIXmight get lost (downstream of altered splice site)
191198STRANDmight get lost (downstream of altered splice site)
195195DISULFIDBy similarity.might get lost (downstream of altered splice site)
200202HELIXmight get lost (downstream of altered splice site)
213218STRANDmight get lost (downstream of altered splice site)
260280TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
281448TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
358363MOTIFITIM motif 1.might get lost (downstream of altered splice site)
360360MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
410415MOTIFITIM motif 2.might get lost (downstream of altered splice site)
440445MOTIFITIM motif 3.might get lost (downstream of altered splice site)
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 13
cDNA position
(for ins/del: last normal base / first normal base)		 328
gDNA position
(for ins/del: last normal base / first normal base)		 19159
chromosomal position
(for ins/del: last normal base / first normal base)		 55174498
original gDNA sequence snippet GAGACGCCATGATCCCCACCTTCACGGCTCTGCTCTGCCTC
altered gDNA sequence snippet GAGACGCCATGATCCCCACCCTCACGGCTCTGCTCTGCCTC
original cDNA sequence snippet GAGACGCCATGATCCCCACCTTCACGGCTCTGCTCTGCCTC
altered cDNA sequence snippet GAGACGCCATGATCCCCACCCTCACGGCTCTGCTCTGCCTC
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 MIPTLTALLC 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*
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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999997 (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) chr19:55174498T>CN/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.13T>C
cDNA.52T>C
g.19159T>C
AA changes F5L Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 5
frameshift no
known variant Reference ID: rs28366008
databasehomozygous (C/C)heterozygousallele carriers
1000G25610131269
ExAC40792255026629
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.4840
-0.0540.003
(flanking)1.6270.018
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased19163wt: 0.8957 / mu: 0.9009 (marginal change - not scored)wt: CGCCATGATCCCCACCTTCACGGCTCTGCTCTGCCTCGGTG
mu: CGCCATGATCCCCACCCTCACGGCTCTGCTCTGCCTCGGTG		 tcac|GGCT
Donor increased19158wt: 0.30 / mu: 0.60wt: CCCACCTTCACGGCT
mu: CCCACCCTCACGGCT		 CACC|ttca
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      5 MIPTFTALLCLGLSLGP
mutated  not conserved    5 MIPTLTALLCLGLSLGPRTHMQ
Ptroglodytes  not conserved  ENSPTRG00000011468  5 MIPTLTALLCLGLSLGPRTHVQ
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000003601  5 MTPTLTTLLLLGLSVGPRTRAQ
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
22259TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
27118DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
3035STRANDmight get lost (downstream of altered splice site)
3740STRANDmight get lost (downstream of altered splice site)
4550STRANDmight get lost (downstream of altered splice site)
4949DISULFIDBy similarity.might get lost (downstream of altered splice site)
5762STRANDmight get lost (downstream of altered splice site)
6972STRANDmight get lost (downstream of altered splice site)
7687STRANDmight get lost (downstream of altered splice site)
9092HELIXmight get lost (downstream of altered splice site)
94102STRANDmight get lost (downstream of altered splice site)
9898DISULFIDBy similarity.might get lost (downstream of altered splice site)
105107STRANDmight get lost (downstream of altered splice site)
113118STRANDmight get lost (downstream of altered splice site)
124218DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
125130STRANDmight get lost (downstream of altered splice site)
132135STRANDmight get lost (downstream of altered splice site)
140157STRANDmight get lost (downstream of altered splice site)
144144DISULFIDBy similarity.might get lost (downstream of altered splice site)
163165HELIXmight get lost (downstream of altered splice site)
166182STRANDmight get lost (downstream of altered splice site)
187189HELIXmight get lost (downstream of altered splice site)
191198STRANDmight get lost (downstream of altered splice site)
195195DISULFIDBy similarity.might get lost (downstream of altered splice site)
200202HELIXmight get lost (downstream of altered splice site)
213218STRANDmight get lost (downstream of altered splice site)
260280TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
281448TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
358363MOTIFITIM motif 1.might get lost (downstream of altered splice site)
360360MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
410415MOTIFITIM motif 2.might get lost (downstream of altered splice site)
440445MOTIFITIM motif 3.might get lost (downstream of altered splice site)
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 13
cDNA position
(for ins/del: last normal base / first normal base)		 52
gDNA position
(for ins/del: last normal base / first normal base)		 19159
chromosomal position
(for ins/del: last normal base / first normal base)		 55174498
original gDNA sequence snippet GAGACGCCATGATCCCCACCTTCACGGCTCTGCTCTGCCTC
altered gDNA sequence snippet GAGACGCCATGATCCCCACCCTCACGGCTCTGCTCTGCCTC
original cDNA sequence snippet GAGACGCCATGATCCCCACCTTCACGGCTCTGCTCTGCCTC
altered cDNA sequence snippet GAGACGCCATGATCCCCACCCTCACGGCTCTGCTCTGCCTC
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 MIPTLTALLC 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*
speed 0.58 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: 0.99999999999997 (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) chr19:55174498T>CN/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.13T>C
cDNA.49T>C
g.19159T>C
AA changes F5L Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 5
frameshift no
known variant Reference ID: rs28366008
databasehomozygous (C/C)heterozygousallele carriers
1000G25610131269
ExAC40792255026629
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.4840
-0.0540.003
(flanking)1.6270.018
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased19163wt: 0.8957 / mu: 0.9009 (marginal change - not scored)wt: CGCCATGATCCCCACCTTCACGGCTCTGCTCTGCCTCGGTG
mu: CGCCATGATCCCCACCCTCACGGCTCTGCTCTGCCTCGGTG		 tcac|GGCT
Donor increased19158wt: 0.30 / mu: 0.60wt: CCCACCTTCACGGCT
mu: CCCACCCTCACGGCT		 CACC|ttca
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      5 MIPTFTALLCLGLSLGP
mutated  not conserved    5 MIPTLTALLCLGLSLGPRTHMQ
Ptroglodytes  not conserved  ENSPTRG00000011468  5 MIPTLTALLCLGLSLGPRTHVQ
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000003601  5 MTPTLTTLLLLGLSVGPRTRAQ
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
22259TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
27118DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
3035STRANDmight get lost (downstream of altered splice site)
3740STRANDmight get lost (downstream of altered splice site)
4550STRANDmight get lost (downstream of altered splice site)
4949DISULFIDBy similarity.might get lost (downstream of altered splice site)
5762STRANDmight get lost (downstream of altered splice site)
6972STRANDmight get lost (downstream of altered splice site)
7687STRANDmight get lost (downstream of altered splice site)
9092HELIXmight get lost (downstream of altered splice site)
94102STRANDmight get lost (downstream of altered splice site)
9898DISULFIDBy similarity.might get lost (downstream of altered splice site)
105107STRANDmight get lost (downstream of altered splice site)
113118STRANDmight get lost (downstream of altered splice site)
124218DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
125130STRANDmight get lost (downstream of altered splice site)
132135STRANDmight get lost (downstream of altered splice site)
140157STRANDmight get lost (downstream of altered splice site)
144144DISULFIDBy similarity.might get lost (downstream of altered splice site)
163165HELIXmight get lost (downstream of altered splice site)
166182STRANDmight get lost (downstream of altered splice site)
187189HELIXmight get lost (downstream of altered splice site)
191198STRANDmight get lost (downstream of altered splice site)
195195DISULFIDBy similarity.might get lost (downstream of altered splice site)
200202HELIXmight get lost (downstream of altered splice site)
213218STRANDmight get lost (downstream of altered splice site)
260280TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
281448TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
358363MOTIFITIM motif 1.might get lost (downstream of altered splice site)
360360MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
410415MOTIFITIM motif 2.might get lost (downstream of altered splice site)
440445MOTIFITIM motif 3.might get lost (downstream of altered splice site)
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 13
cDNA position
(for ins/del: last normal base / first normal base)		 49
gDNA position
(for ins/del: last normal base / first normal base)		 19159
chromosomal position
(for ins/del: last normal base / first normal base)		 55174498
original gDNA sequence snippet GAGACGCCATGATCCCCACCTTCACGGCTCTGCTCTGCCTC
altered gDNA sequence snippet GAGACGCCATGATCCCCACCCTCACGGCTCTGCTCTGCCTC
original cDNA sequence snippet GAGACGCCATGATCCCCACCTTCACGGCTCTGCTCTGCCTC
altered cDNA sequence snippet GAGACGCCATGATCCCCACCCTCACGGCTCTGCTCTGCCTC
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 MIPTLTALLC 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*
speed 0.80 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: 0.99999999999997 (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) chr19:55174498T>CN/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.13T>C
cDNA.27T>C
g.19159T>C
AA changes F5L Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 5
frameshift no
known variant Reference ID: rs28366008
databasehomozygous (C/C)heterozygousallele carriers
1000G25610131269
ExAC40792255026629
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.4840
-0.0540.003
(flanking)1.6270.018
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased19163wt: 0.8957 / mu: 0.9009 (marginal change - not scored)wt: CGCCATGATCCCCACCTTCACGGCTCTGCTCTGCCTCGGTG
mu: CGCCATGATCCCCACCCTCACGGCTCTGCTCTGCCTCGGTG		 tcac|GGCT
Donor increased19158wt: 0.30 / mu: 0.60wt: CCCACCTTCACGGCT
mu: CCCACCCTCACGGCT		 CACC|ttca
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      5 MIPTFTALLCLGLSLGP
mutated  not conserved    5 MIPTLTALLCLGLSLGPRTHMQ
Ptroglodytes  not conserved  ENSPTRG00000011468  5 MIPTLTALLCLGLSLGPRTHVQ
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000003601  5 MTPTLTTLLLLGLSVGPRTRAQ
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
22259TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
27118DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
3035STRANDmight get lost (downstream of altered splice site)
3740STRANDmight get lost (downstream of altered splice site)
4550STRANDmight get lost (downstream of altered splice site)
4949DISULFIDBy similarity.might get lost (downstream of altered splice site)
5762STRANDmight get lost (downstream of altered splice site)
6972STRANDmight get lost (downstream of altered splice site)
7687STRANDmight get lost (downstream of altered splice site)
9092HELIXmight get lost (downstream of altered splice site)
94102STRANDmight get lost (downstream of altered splice site)
9898DISULFIDBy similarity.might get lost (downstream of altered splice site)
105107STRANDmight get lost (downstream of altered splice site)
113118STRANDmight get lost (downstream of altered splice site)
124218DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
125130STRANDmight get lost (downstream of altered splice site)
132135STRANDmight get lost (downstream of altered splice site)
140157STRANDmight get lost (downstream of altered splice site)
144144DISULFIDBy similarity.might get lost (downstream of altered splice site)
163165HELIXmight get lost (downstream of altered splice site)
166182STRANDmight get lost (downstream of altered splice site)
187189HELIXmight get lost (downstream of altered splice site)
191198STRANDmight get lost (downstream of altered splice site)
195195DISULFIDBy similarity.might get lost (downstream of altered splice site)
200202HELIXmight get lost (downstream of altered splice site)
213218STRANDmight get lost (downstream of altered splice site)
260280TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
281448TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
358363MOTIFITIM motif 1.might get lost (downstream of altered splice site)
360360MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
410415MOTIFITIM motif 2.might get lost (downstream of altered splice site)
440445MOTIFITIM motif 3.might get lost (downstream of altered splice site)
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 13
cDNA position
(for ins/del: last normal base / first normal base)		 27
gDNA position
(for ins/del: last normal base / first normal base)		 19159
chromosomal position
(for ins/del: last normal base / first normal base)		 55174498
original gDNA sequence snippet GAGACGCCATGATCCCCACCTTCACGGCTCTGCTCTGCCTC
altered gDNA sequence snippet GAGACGCCATGATCCCCACCCTCACGGCTCTGCTCTGCCTC
original cDNA sequence snippet GAGACGCCATGATCCCCACCTTCACGGCTCTGCTCTGCCTC
altered cDNA sequence snippet GAGACGCCATGATCCCCACCCTCACGGCTCTGCTCTGCCTC
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 MIPTLTALLC 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*
speed 0.55 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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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999997 (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) chr19:55174498T>CN/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.13T>C
cDNA.375T>C
g.19159T>C
AA changes F5L Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 5
frameshift no
known variant Reference ID: rs28366008
databasehomozygous (C/C)heterozygousallele carriers
1000G25610131269
ExAC40792255026629
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.4840
-0.0540.003
(flanking)1.6270.018
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased19163wt: 0.8957 / mu: 0.9009 (marginal change - not scored)wt: CGCCATGATCCCCACCTTCACGGCTCTGCTCTGCCTCGGTG
mu: CGCCATGATCCCCACCCTCACGGCTCTGCTCTGCCTCGGTG		 tcac|GGCT
Donor increased19158wt: 0.30 / mu: 0.60wt: CCCACCTTCACGGCT
mu: CCCACCCTCACGGCT		 CACC|ttca
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      5 MIPTFTALLCLGLSLGP
mutated  not conserved    5 MIPTLTALLCLGLSLGPRTHMQ
Ptroglodytes  not conserved  ENSPTRG00000011468  5 MIPTLTALLCLGLSLGPRTHVQ
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000003601  5 MTPTLTTLLLLGLSVGPRTRAQ
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
22259TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
27118DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
3035STRANDmight get lost (downstream of altered splice site)
3740STRANDmight get lost (downstream of altered splice site)
4550STRANDmight get lost (downstream of altered splice site)
4949DISULFIDBy similarity.might get lost (downstream of altered splice site)
5762STRANDmight get lost (downstream of altered splice site)
6972STRANDmight get lost (downstream of altered splice site)
7687STRANDmight get lost (downstream of altered splice site)
9092HELIXmight get lost (downstream of altered splice site)
94102STRANDmight get lost (downstream of altered splice site)
9898DISULFIDBy similarity.might get lost (downstream of altered splice site)
105107STRANDmight get lost (downstream of altered splice site)
113118STRANDmight get lost (downstream of altered splice site)
124218DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
125130STRANDmight get lost (downstream of altered splice site)
132135STRANDmight get lost (downstream of altered splice site)
140157STRANDmight get lost (downstream of altered splice site)
144144DISULFIDBy similarity.might get lost (downstream of altered splice site)
163165HELIXmight get lost (downstream of altered splice site)
166182STRANDmight get lost (downstream of altered splice site)
187189HELIXmight get lost (downstream of altered splice site)
191198STRANDmight get lost (downstream of altered splice site)
195195DISULFIDBy similarity.might get lost (downstream of altered splice site)
200202HELIXmight get lost (downstream of altered splice site)
213218STRANDmight get lost (downstream of altered splice site)
260280TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
281448TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
358363MOTIFITIM motif 1.might get lost (downstream of altered splice site)
360360MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
410415MOTIFITIM motif 2.might get lost (downstream of altered splice site)
440445MOTIFITIM motif 3.might get lost (downstream of altered splice site)
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 13
cDNA position
(for ins/del: last normal base / first normal base)		 375
gDNA position
(for ins/del: last normal base / first normal base)		 19159
chromosomal position
(for ins/del: last normal base / first normal base)		 55174498
original gDNA sequence snippet GAGACGCCATGATCCCCACCTTCACGGCTCTGCTCTGCCTC
altered gDNA sequence snippet GAGACGCCATGATCCCCACCCTCACGGCTCTGCTCTGCCTC
original cDNA sequence snippet GAGACGCCATGATCCCCACCTTCACGGCTCTGCTCTGCCTC
altered cDNA sequence snippet GAGACGCCATGATCCCCACCCTCACGGCTCTGCTCTGCCTC
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 MIPTLTALLC 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*
speed 0.60 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

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