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 7 transcript(s)...
Querying Taster for transcript #1: ENST00000407860
Querying Taster for transcript #2: ENST00000396365
Querying Taster for transcript #3: ENST00000245621
Querying Taster for transcript #4: ENST00000440558
Querying Taster for transcript #5: ENST00000270464
Querying Taster for transcript #6: ENST00000419410
Querying Taster for transcript #7: ENST00000391735
MT speed 0 s - this script 7.234102 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
LILRA6polymorphism_automatic0simple_aaeaffectedQ59Rsingle base exchangers28445220show file
LILRA6polymorphism_automatic0simple_aaeaffectedQ59Rsingle base exchangers28445220show file
LILRA6polymorphism_automatic0simple_aaeaffectedQ59Rsingle base exchangers28445220show file
LILRA6polymorphism_automatic0simple_aaeaffectedQ59Rsingle base exchangers28445220show file
LILRA6polymorphism_automatic0simple_aaeaffectedQ59Rsingle base exchangers28445220show file
LILRA6polymorphism_automatic0simple_aaeaffectedQ59Rsingle base exchangers28445220show file
LILRB3polymorphism_automatic9.99200722162641e-16simple_aaeaffectedQ59Rsingle base exchangers28445220show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1 (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) chr19:54746081T>CN/A show variant in all transcripts   IGV
HGNC symbol LILRA6
Ensembl transcript ID ENST00000396365
Genbank transcript ID NM_024318
UniProt peptide Q6PI73
alteration type single base exchange
alteration region CDS
DNA changes c.176A>G
cDNA.216A>G
g.1050A>G
AA changes Q59R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 59
frameshift no
known variant Reference ID: rs28445220
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC30672663329700
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1850
-1.9580
(flanking)-0.5520
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained10440.33mu: CCAGGAGTACCGACT AGGA|gtac
distance from splice site 106
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      59WCQGSLEAQEYQLDKEGSPEPLDR
mutated  all conserved    59WCQGSLEAQEYRLDKEGSPEPLD
Ptroglodytes  not conserved  ENSPTRG00000011451  59WCQGNLEAQEYCLYKEGSTEPWD
Mmulatta  all conserved  ENSMMUG00000021880  59WCRGTLEAQEYRLDKEGSTEPWD
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 
24447TOPO_DOMExtracellular (Potential).lost
139139CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
225314DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
245245DISULFIDBy similarity.might get lost (downstream of altered splice site)
296296DISULFIDBy similarity.might get lost (downstream of altered splice site)
301301CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
323408DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
340340CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
345345DISULFIDBy similarity.might get lost (downstream of altered splice site)
396396DISULFIDBy similarity.might get lost (downstream of altered splice site)
448468TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
469481TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1446 / 1446
position (AA) of stopcodon in wt / mu AA sequence 482 / 482
position of stopcodon in wt / mu cDNA 1486 / 1486
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 41 / 41
chromosome 19
strand -1
last intron/exon boundary 1350
theoretical NMD boundary in CDS 1259
length of CDS 1446
coding sequence (CDS) position 176
cDNA position
(for ins/del: last normal base / first normal base)		 216
gDNA position
(for ins/del: last normal base / first normal base)		 1050
chromosomal position
(for ins/del: last normal base / first normal base)		 54746081
original gDNA sequence snippet CCTGGAGGCCCAGGAGTACCAACTGGATAAAGAGGGAAGCC
altered gDNA sequence snippet CCTGGAGGCCCAGGAGTACCGACTGGATAAAGAGGGAAGCC
original cDNA sequence snippet CCTGGAGGCCCAGGAGTACCAACTGGATAAAGAGGGAAGCC
altered cDNA sequence snippet CCTGGAGGCCCAGGAGTACCGACTGGATAAAGAGGGAAGCC
wildtype AA sequence MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSLEAQEYQL
DKEGSPEPLD RNNPLEPKNK ARFSIPSMTQ HHAGRYRCHY YSSAGWSEPS DPLELVMTGF
YNKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSGGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPRVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YDRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSH GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSRGY FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSY SSNPHLLSFP SEPLELMVSG
HSGGSSLPPT GPPSTPASHA KDYTVENLIR MGMAGLVLVF LGILLFEAQH SQRNPQDAAG
R*
mutated AA sequence MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSLEAQEYRL
DKEGSPEPLD RNNPLEPKNK ARFSIPSMTQ HHAGRYRCHY YSSAGWSEPS DPLELVMTGF
YNKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSGGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPRVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YDRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSH GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSRGY FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSY SSNPHLLSFP SEPLELMVSG
HSGGSSLPPT GPPSTPASHA KDYTVENLIR MGMAGLVLVF LGILLFEAQH SQRNPQDAAG
R*
speed 1.23 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: 1 (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) chr19:54746081T>CN/A show variant in all transcripts   IGV
HGNC symbol LILRA6
Ensembl transcript ID ENST00000440558
Genbank transcript ID N/A
UniProt peptide Q6PI73
alteration type single base exchange
alteration region CDS
DNA changes c.176A>G
cDNA.225A>G
g.1050A>G
AA changes Q59R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 59
frameshift no
known variant Reference ID: rs28445220
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC30672663329700
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1850
-1.9580
(flanking)-0.5520
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained10440.33mu: CCAGGAGTACCGACT AGGA|gtac
distance from splice site 106
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      59WCQGSLEAQEYQLDKEGSPEPLDR
mutated  all conserved    59WCQGSLEAQEYRLDKEGSPEPLD
Ptroglodytes  not conserved  ENSPTRG00000011451  59WCQGNLEAQEYCLYKEGSTEPWD
Mmulatta  all conserved  ENSMMUG00000021880  59WCRGTLEAQEYRLDKEGSTEPWD
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 
24447TOPO_DOMExtracellular (Potential).lost
139139CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
225314DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
245245DISULFIDBy similarity.might get lost (downstream of altered splice site)
296296DISULFIDBy similarity.might get lost (downstream of altered splice site)
301301CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
323408DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
340340CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
345345DISULFIDBy similarity.might get lost (downstream of altered splice site)
396396DISULFIDBy similarity.might get lost (downstream of altered splice site)
448468TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
469481TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1896 / 1896
position (AA) of stopcodon in wt / mu AA sequence 632 / 632
position of stopcodon in wt / mu cDNA 1945 / 1945
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 50 / 50
chromosome 19
strand -1
last intron/exon boundary 1799
theoretical NMD boundary in CDS 1699
length of CDS 1896
coding sequence (CDS) position 176
cDNA position
(for ins/del: last normal base / first normal base)		 225
gDNA position
(for ins/del: last normal base / first normal base)		 1050
chromosomal position
(for ins/del: last normal base / first normal base)		 54746081
original gDNA sequence snippet CCTGGAGGCCCAGGAGTACCAACTGGATAAAGAGGGAAGCC
altered gDNA sequence snippet CCTGGAGGCCCAGGAGTACCGACTGGATAAAGAGGGAAGCC
original cDNA sequence snippet CCTGGAGGCCCAGGAGTACCAACTGGATAAAGAGGGAAGCC
altered cDNA sequence snippet CCTGGAGGCCCAGGAGTACCGACTGGATAAAGAGGGAAGCC
wildtype AA sequence MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSLEAQEYQL
DKEGSPEPLD RNNPLEPKNK ARFSIPSMTQ HHAGRYRCHY YSSAGWSEPS DPLELVMTGF
YNKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSGGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPRVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YDRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSH GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSWWQ FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSY SSNPHLLSHP SEPLELVVSG
HSGGSSLPPT GPPSTPGLGR YLEVLIGVSV AFVLLLFLLL FLLLRRQRHS KHRTSDQRKT
DFQRPAGAAE TEPKDRGLLR RSSPAADVQE ENLYAAVKDT QSEDRVELDS QSPHDEDPQA
VTYAPVKHSS PRREMASPPS SLSGEFLDTK DRQVEEDRQM DTEAAASEAS QDVTYAQLHS
LTLRRKATEP PPSQEGEPPA EPSIYATLAI H*
mutated AA sequence MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSLEAQEYRL
DKEGSPEPLD RNNPLEPKNK ARFSIPSMTQ HHAGRYRCHY YSSAGWSEPS DPLELVMTGF
YNKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSGGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPRVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YDRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSH GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSWWQ FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSY SSNPHLLSHP SEPLELVVSG
HSGGSSLPPT GPPSTPGLGR YLEVLIGVSV AFVLLLFLLL FLLLRRQRHS KHRTSDQRKT
DFQRPAGAAE TEPKDRGLLR RSSPAADVQE ENLYAAVKDT QSEDRVELDS QSPHDEDPQA
VTYAPVKHSS PRREMASPPS SLSGEFLDTK DRQVEEDRQM DTEAAASEAS QDVTYAQLHS
LTLRRKATEP PPSQEGEPPA EPSIYATLAI H*
speed 0.54 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: 1 (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) chr19:54746081T>CN/A show variant in all transcripts   IGV
HGNC symbol LILRA6
Ensembl transcript ID ENST00000245621
Genbank transcript ID N/A
UniProt peptide Q6PI73
alteration type single base exchange
alteration region CDS
DNA changes c.176A>G
cDNA.313A>G
g.1050A>G
AA changes Q59R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 59
frameshift no
known variant Reference ID: rs28445220
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC30672663329700
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1850
-1.9580
(flanking)-0.5520
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained10440.33mu: CCAGGAGTACCGACT AGGA|gtac
distance from splice site 106
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      59WCQGSLEAQEYQLDKEGSPEPLDR
mutated  all conserved    59WCQGSLEAQEYRLDKEGSPEPLD
Ptroglodytes  not conserved  ENSPTRG00000011451  59WCQGNLEAQEYCLYKEGSTEPWD
Mmulatta  all conserved  ENSMMUG00000021880  59WCRGTLEAQEYRLDKEGSTEPWD
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 
24447TOPO_DOMExtracellular (Potential).lost
139139CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
225314DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
245245DISULFIDBy similarity.might get lost (downstream of altered splice site)
296296DISULFIDBy similarity.might get lost (downstream of altered splice site)
301301CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
323408DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
340340CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
345345DISULFIDBy similarity.might get lost (downstream of altered splice site)
396396DISULFIDBy similarity.might get lost (downstream of altered splice site)
448468TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
469481TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1395 / 1395
position (AA) of stopcodon in wt / mu AA sequence 465 / 465
position of stopcodon in wt / mu cDNA 1532 / 1532
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 138 / 138
chromosome 19
strand -1
last intron/exon boundary 1396
theoretical NMD boundary in CDS 1208
length of CDS 1395
coding sequence (CDS) position 176
cDNA position
(for ins/del: last normal base / first normal base)		 313
gDNA position
(for ins/del: last normal base / first normal base)		 1050
chromosomal position
(for ins/del: last normal base / first normal base)		 54746081
original gDNA sequence snippet CCTGGAGGCCCAGGAGTACCAACTGGATAAAGAGGGAAGCC
altered gDNA sequence snippet CCTGGAGGCCCAGGAGTACCGACTGGATAAAGAGGGAAGCC
original cDNA sequence snippet CCTGGAGGCCCAGGAGTACCAACTGGATAAAGAGGGAAGCC
altered cDNA sequence snippet CCTGGAGGCCCAGGAGTACCGACTGGATAAAGAGGGAAGCC
wildtype AA sequence MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSLEAQEYQL
DKEGSPEPLD RNNPLEPKNK ARFSIPSMTQ HHAGRYRCHY YSSAGWSEPS DPLELVMTGF
YNKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSGGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPRVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YDRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSH GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSRGY FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSY SSNPHLLSFP SEPLELMVSA
SHAKDYTVEN LIRMGMAGLV LVFLGILLFE AQHSQRNPQD AAGR*
mutated AA sequence MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSLEAQEYRL
DKEGSPEPLD RNNPLEPKNK ARFSIPSMTQ HHAGRYRCHY YSSAGWSEPS DPLELVMTGF
YNKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSGGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPRVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YDRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSH GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSRGY FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSY SSNPHLLSFP SEPLELMVSA
SHAKDYTVEN LIRMGMAGLV LVFLGILLFE AQHSQRNPQD AAGR*
speed 1.34 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: 1 (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) chr19:54746081T>CN/A show variant in all transcripts   IGV
HGNC symbol LILRA6
Ensembl transcript ID ENST00000270464
Genbank transcript ID N/A
UniProt peptide Q6PI73
alteration type single base exchange
alteration region CDS
DNA changes c.176A>G
cDNA.178A>G
g.1050A>G
AA changes Q59R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 59
frameshift no
known variant Reference ID: rs28445220
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC30672663329700
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1850
-1.9580
(flanking)-0.5520
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained10440.33mu: CCAGGAGTACCGACT AGGA|gtac
distance from splice site 106
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      59WCQGSLEAQEYQLDKEGSPEPLDR
mutated  all conserved    59WCQGSLEAQEYRLDKEGSPEPLD
Ptroglodytes  not conserved  ENSPTRG00000011451  59WCQGNLEAQEYCLYKEGSTEPWD
Mmulatta  all conserved  ENSMMUG00000021880  59WCRGTLEAQEYRLDKEGSTEPWD
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 
24447TOPO_DOMExtracellular (Potential).lost
139139CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
225314DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
245245DISULFIDBy similarity.might get lost (downstream of altered splice site)
296296DISULFIDBy similarity.might get lost (downstream of altered splice site)
301301CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
323408DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
340340CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
345345DISULFIDBy similarity.might get lost (downstream of altered splice site)
396396DISULFIDBy similarity.might get lost (downstream of altered splice site)
448468TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
469481TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1899 / 1899
position (AA) of stopcodon in wt / mu AA sequence 633 / 633
position of stopcodon in wt / mu cDNA 1901 / 1901
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 3 / 3
chromosome 19
strand -1
last intron/exon boundary 1755
theoretical NMD boundary in CDS 1702
length of CDS 1899
coding sequence (CDS) position 176
cDNA position
(for ins/del: last normal base / first normal base)		 178
gDNA position
(for ins/del: last normal base / first normal base)		 1050
chromosomal position
(for ins/del: last normal base / first normal base)		 54746081
original gDNA sequence snippet CCTGGAGGCCCAGGAGTACCAACTGGATAAAGAGGGAAGCC
altered gDNA sequence snippet CCTGGAGGCCCAGGAGTACCGACTGGATAAAGAGGGAAGCC
original cDNA sequence snippet CCTGGAGGCCCAGGAGTACCAACTGGATAAAGAGGGAAGCC
altered cDNA sequence snippet CCTGGAGGCCCAGGAGTACCGACTGGATAAAGAGGGAAGCC
wildtype AA sequence MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSLEAQEYQL
DKEGSPEPLD RNNPLEPKNK ARFSIPSMTQ HHAGRYRCHY YSSAGWSEPS DPLELVMTGF
YNKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSGGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPRVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YNRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSN GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSWWQ FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSY SSNPHLLSHP SEPLELVVSG
HSGGSSLPPT GPPSTPGLGR YLEVLIGVSV AFVLLLFLLL FLLLRRQRHS KHRTSDQRKT
DFQRPAGAAE TEPKDRGLLR RSSPAADVQE ENLYAAVKDT QSEDRVELDS QQSPHDEDPQ
AVTYAPVKHS SPRREMASPP SSLSGEFLDT KDRQVEEDRQ MDTEAAASEA SQDVTYAQLH
SLTLRRKATE PPPSQEGEPP AEPSIYATLA IH*
mutated AA sequence MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSLEAQEYRL
DKEGSPEPLD RNNPLEPKNK ARFSIPSMTQ HHAGRYRCHY YSSAGWSEPS DPLELVMTGF
YNKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSGGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPRVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YNRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSN GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSWWQ FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSY SSNPHLLSHP SEPLELVVSG
HSGGSSLPPT GPPSTPGLGR YLEVLIGVSV AFVLLLFLLL FLLLRRQRHS KHRTSDQRKT
DFQRPAGAAE TEPKDRGLLR RSSPAADVQE ENLYAAVKDT QSEDRVELDS QQSPHDEDPQ
AVTYAPVKHS SPRREMASPP SSLSGEFLDT KDRQVEEDRQ MDTEAAASEA SQDVTYAQLH
SLTLRRKATE PPPSQEGEPP AEPSIYATLA IH*
speed 0.97 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: 1 (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) chr19:54746081T>CN/A show variant in all transcripts   IGV
HGNC symbol LILRA6
Ensembl transcript ID ENST00000419410
Genbank transcript ID N/A
UniProt peptide Q6PI73
alteration type single base exchange
alteration region CDS
DNA changes c.176A>G
cDNA.178A>G
g.1050A>G
AA changes Q59R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 59
frameshift no
known variant Reference ID: rs28445220
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC30672663329700
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1850
-1.9580
(flanking)-0.5520
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained10440.33mu: CCAGGAGTACCGACT AGGA|gtac
distance from splice site 106
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      59WCQGSLEAQEYQLDKEGSPEPLDR
mutated  all conserved    59WCQGSLEAQEYRLDKEGSPEPLD
Ptroglodytes  not conserved  ENSPTRG00000011451  59WCQGNLEAQEYCLYKEGSTEPWD
Mmulatta  all conserved  ENSMMUG00000021880  59WCRGTLEAQEYRLDKEGSTEPWD
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 
24447TOPO_DOMExtracellular (Potential).lost
139139CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
225314DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
245245DISULFIDBy similarity.might get lost (downstream of altered splice site)
296296DISULFIDBy similarity.might get lost (downstream of altered splice site)
301301CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
323408DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
340340CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
345345DISULFIDBy similarity.might get lost (downstream of altered splice site)
396396DISULFIDBy similarity.might get lost (downstream of altered splice site)
448468TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
469481TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1899 / 1899
position (AA) of stopcodon in wt / mu AA sequence 633 / 633
position of stopcodon in wt / mu cDNA 1901 / 1901
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 3 / 3
chromosome 19
strand -1
last intron/exon boundary 1755
theoretical NMD boundary in CDS 1702
length of CDS 1899
coding sequence (CDS) position 176
cDNA position
(for ins/del: last normal base / first normal base)		 178
gDNA position
(for ins/del: last normal base / first normal base)		 1050
chromosomal position
(for ins/del: last normal base / first normal base)		 54746081
original gDNA sequence snippet CCTGGAGGCCCAGGAGTACCAACTGGATAAAGAGGGAAGCC
altered gDNA sequence snippet CCTGGAGGCCCAGGAGTACCGACTGGATAAAGAGGGAAGCC
original cDNA sequence snippet CCTGGAGGCCCAGGAGTACCAACTGGATAAAGAGGGAAGCC
altered cDNA sequence snippet CCTGGAGGCCCAGGAGTACCGACTGGATAAAGAGGGAAGCC
wildtype AA sequence MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSLEAQEYQL
DKEGSPEPLD RNNPLEPKNK ARFSIPSMTQ HHAGRYRCHY YSSAGWSEPS DPLELVMTGF
YNKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSGGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPRVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YDRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSH GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSRGY FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSY SSNPHLLSFP SEPLELMVSG
HSGGSSLPPT GPPSTPGLGR YLEVLIGVSV AFVLLLFLLL FLLLRRQRHS KHRTSDQRKT
DFQRPAGAAE TEPKDRGLLR RSSPAADVQE ENLYAAVKDT QSEDRVELDS QQSPHDEDPQ
AVTYAPVKHS SPRREMASPP SSLSGEFLDT KDRQVEEDRQ MDTEAAASEA SQDVTYAQLH
SLTLRRKATE PPPSQEGEPP AEPSIYATLA IH*
mutated AA sequence MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSLEAQEYRL
DKEGSPEPLD RNNPLEPKNK ARFSIPSMTQ HHAGRYRCHY YSSAGWSEPS DPLELVMTGF
YNKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSGGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPRVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YDRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSH GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSRGY FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSY SSNPHLLSFP SEPLELMVSG
HSGGSSLPPT GPPSTPGLGR YLEVLIGVSV AFVLLLFLLL FLLLRRQRHS KHRTSDQRKT
DFQRPAGAAE TEPKDRGLLR RSSPAADVQE ENLYAAVKDT QSEDRVELDS QQSPHDEDPQ
AVTYAPVKHS SPRREMASPP SSLSGEFLDT KDRQVEEDRQ MDTEAAASEA SQDVTYAQLH
SLTLRRKATE PPPSQEGEPP AEPSIYATLA IH*
speed 1.18 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: 1 (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) chr19:54746081T>CN/A show variant in all transcripts   IGV
HGNC symbol LILRA6
Ensembl transcript ID ENST00000391735
Genbank transcript ID N/A
UniProt peptide Q6PI73
alteration type single base exchange
alteration region CDS
DNA changes c.176A>G
cDNA.178A>G
g.1050A>G
AA changes Q59R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 59
frameshift no
known variant Reference ID: rs28445220
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC30672663329700
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1850
-1.9580
(flanking)-0.5520
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained10440.33mu: CCAGGAGTACCGACT AGGA|gtac
distance from splice site 106
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      59WCQGSLEAQEYQLDKEGSPEPLDR
mutated  all conserved    59WCQGSLEAQEYRLDKEGSPEPLD
Ptroglodytes  not conserved  ENSPTRG00000011451  59WCQGNLEAQEYCLYKEGSTEPWD
Mmulatta  all conserved  ENSMMUG00000021880  59WCRGTLEAQEYRLDKEGSTEPWD
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 
24447TOPO_DOMExtracellular (Potential).lost
139139CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
225314DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
245245DISULFIDBy similarity.might get lost (downstream of altered splice site)
296296DISULFIDBy similarity.might get lost (downstream of altered splice site)
301301CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
323408DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
340340CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
345345DISULFIDBy similarity.might get lost (downstream of altered splice site)
396396DISULFIDBy similarity.might get lost (downstream of altered splice site)
448468TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
469481TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 582 / 582
position (AA) of stopcodon in wt / mu AA sequence 194 / 194
position of stopcodon in wt / mu cDNA 584 / 584
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 3 / 3
chromosome 19
strand -1
last intron/exon boundary 1613
theoretical NMD boundary in CDS 1560
length of CDS 582
coding sequence (CDS) position 176
cDNA position
(for ins/del: last normal base / first normal base)		 178
gDNA position
(for ins/del: last normal base / first normal base)		 1050
chromosomal position
(for ins/del: last normal base / first normal base)		 54746081
original gDNA sequence snippet CCTGGAGGCCCAGGAGTACCAACTGGATAAAGAGGGAAGCC
altered gDNA sequence snippet CCTGGAGGCCCAGGAGTACCGACTGGATAAAGAGGGAAGCC
original cDNA sequence snippet CCTGGAGGCCCAGGAGTACCAACTGGATAAAGAGGGAAGCC
altered cDNA sequence snippet CCTGGAGGCCCAGGAGTACCGACTGGATAAAGAGGGAAGCC
wildtype AA sequence MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSLEAQEYQL
DKEGSPEPLD RNNPLEPKNK ARFSIPSMTQ HHAGRYRCHY YSSAGWSEPS DPLELVMTGF
YNKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSGGFQAL
FPVGPVTPSH RRV*
mutated AA sequence MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSLEAQEYRL
DKEGSPEPLD RNNPLEPKNK ARFSIPSMTQ HHAGRYRCHY YSSAGWSEPS DPLELVMTGF
YNKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSGGFQAL
FPVGPVTPSH RRV*
speed 1.15 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: 0.999999999999999 (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) chr19:54746081T>CN/A show variant in all transcripts   IGV
HGNC symbol LILRB3
Ensembl transcript ID ENST00000407860
Genbank transcript ID N/A
UniProt peptide O75022
alteration type single base exchange
alteration region CDS
DNA changes c.176A>G
cDNA.178A>G
g.522A>G
AA changes Q59R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 59
frameshift no
known variant Reference ID: rs28445220
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC30672663329700
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1850
-1.9580
(flanking)-0.5520
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained5160.33mu: CCAGGAGTACCGACT AGGA|gtac
distance from splice site 106
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      59WCQGSLEAQEYQLDKEGSPEPLDR
mutated  all conserved    59WCQGSLEAQEYRLDKEGSPEPLD
Ptroglodytes  not conserved  ENSPTRG00000011451  59WCQGNLEAQEYCLYKEGSTEPWD
Mmulatta  all conserved  ENSMMUG00000021880  59WCRGTLEAQEYRLDKEGSTEPWD
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
24443TOPO_DOMExtracellular (Potential).lost
42100DOMAINIg-like C2-type 1.lost
6161CONFLICTH -> D (in Ref. 1; AAB68668 and 2; AAB87667).might get lost (downstream of altered splice site)
9898DISULFIDBy similarity.might get lost (downstream of altered splice site)
111229DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
115115CONFLICTM -> L (in Ref. 1; AAB68668 and 2; AAB87667).might get lost (downstream of altered splice site)
120120CONFLICTA -> F (in Ref. 1; AAB68668).might get lost (downstream of altered splice site)
139139CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
144144DISULFIDBy similarity.might get lost (downstream of altered splice site)
149149CONFLICTG -> R (in Ref. 2; AAB87667).might get lost (downstream of altered splice site)
175175CONFLICTR -> G (in Ref. 1; AAB68668 and 2; AAB87667).might get lost (downstream of altered splice site)
187187CONFLICTT -> N (in Ref. 1; AAB68668, 2; AAB87667 and 3; AAP30716).might get lost (downstream of altered splice site)
196196DISULFIDBy similarity.might get lost (downstream of altered splice site)
201201CONFLICTT -> M (in Ref. 1; AAB68668 and 2; AAB87667).might get lost (downstream of altered splice site)
205205CONFLICTW -> R (in Ref. 2; AAB87667).might get lost (downstream of altered splice site)
225314DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
245245DISULFIDPotential.might get lost (downstream of altered splice site)
252252CONFLICTN -> D (in Ref. 1; AAB68668 and 2; AAB87667).might get lost (downstream of altered splice site)
263263CONFLICTD -> A (in Ref. 3; AAP30716).might get lost (downstream of altered splice site)
268268CONFLICTP -> S (in Ref. 3; AAP30716).might get lost (downstream of altered splice site)
280280CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
290290CONFLICTN -> H (in Ref. 1; AAB68668).might get lost (downstream of altered splice site)
296296DISULFIDPotential.might get lost (downstream of altered splice site)
301301CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
338419DOMAINIg-like C2-type 4.might get lost (downstream of altered splice site)
340340CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
345345DISULFIDPotential.might get lost (downstream of altered splice site)
396396DISULFIDPotential.might get lost (downstream of altered splice site)
409409CONFLICTH -> F (in Ref. 1; AAB68668).might get lost (downstream of altered splice site)
417417CONFLICTV -> M (in Ref. 1; AAB68668).might get lost (downstream of altered splice site)
444464TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
465631TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
480480MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
512517MOTIFITIM motif 1.might get lost (downstream of altered splice site)
525525CONFLICTR -> G (in Ref. 2; AAB87667).might get lost (downstream of altered splice site)
561561CONFLICTS -> P (in Ref. 2; AAB87667).might get lost (downstream of altered splice site)
593598MOTIFITIM motif 2.might get lost (downstream of altered splice site)
595595MOD_RESPhosphotyrosine; by LYN (By similarity).might get lost (downstream of altered splice site)
623628MOTIFITIM motif 3.might get lost (downstream of altered splice site)
625625MOD_RESPhosphotyrosine; by LYN (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1947 / 1947
position (AA) of stopcodon in wt / mu AA sequence 649 / 649
position of stopcodon in wt / mu cDNA 1949 / 1949
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 3 / 3
chromosome 19
strand -1
last intron/exon boundary 1803
theoretical NMD boundary in CDS 1750
length of CDS 1947
coding sequence (CDS) position 176
cDNA position
(for ins/del: last normal base / first normal base)		 178
gDNA position
(for ins/del: last normal base / first normal base)		 522
chromosomal position
(for ins/del: last normal base / first normal base)		 54746081
original gDNA sequence snippet CCTGGAGGCCCAGGAGTACCAACTGGATAAAGAGGGAAGCC
altered gDNA sequence snippet CCTGGAGGCCCAGGAGTACCGACTGGATAAAGAGGGAAGCC
original cDNA sequence snippet CCTGGAGGCCCAGGAGTACCAACTGGATAAAGAGGGAAGCC
altered cDNA sequence snippet CCTGGAGGCCCAGGAGTACCGACTGGATAAAGAGGGAAGCC
wildtype AA sequence MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSLEAQEYQL
DKEGSPEPLD RNNPLEPKNK ARFSIPSMTQ HHAGRYRCHY YSSAGWSEPS DPLELVMTGA
YSKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSRGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPWVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YNRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSN GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSWWQ FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSY SSNPHLLSHP SEPLELVVSG
HSGGSSLPPT GPPSTPGGPE DQPLNPPGSG PQNRLGRYLE VLIGVSVAFV LLLFLLLFLL
LRRQRHSKHR TSDQRKTDFQ RPAGAAETEP KDRGLLRRSS PAADVQEENL YAAVKDTQSE
DRVELDSQSP HDEDPQAVTY APVKHSSPRR EMASPPSSLS GEFLDTKDRQ VEEDRQMDTE
AAASEASQDV TYAQLHSLTL RRKATEPPPS QEGEPPAEPS IYATLAIH*
mutated AA sequence MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSLEAQEYRL
DKEGSPEPLD RNNPLEPKNK ARFSIPSMTQ HHAGRYRCHY YSSAGWSEPS DPLELVMTGA
YSKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSRGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPWVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YNRFVLYKEG ERDFLQRPGQ QPQAGLSQAN FTLGPVSPSN GGQYRCYGAH
NLSSEWSAPS DPLNILMAGQ IYDTVSLSAQ PGPTVASGEN VTLLCQSWWQ FDTFLLTKEG
AAHPPLRLRS MYGAHKYQAE FPMSPVTSAH AGTYRCYGSY SSNPHLLSHP SEPLELVVSG
HSGGSSLPPT GPPSTPGGPE DQPLNPPGSG PQNRLGRYLE VLIGVSVAFV LLLFLLLFLL
LRRQRHSKHR TSDQRKTDFQ RPAGAAETEP KDRGLLRRSS PAADVQEENL YAAVKDTQSE
DRVELDSQSP HDEDPQAVTY APVKHSSPRR EMASPPSSLS GEFLDTKDRQ VEEDRQMDTE
AAASEASQDV TYAQLHSLTL RRKATEPPPS QEGEPPAEPS IYATLAIH*
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

Problems