Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999769 (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
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:54754989T>GN/A show variant in all transcripts   IGV
HGNC symbol LILRB5
Ensembl transcript ID ENST00000450632
Genbank transcript ID N/A
UniProt peptide O75023
alteration type single base exchange
alteration region CDS
DNA changes c.1646A>C
cDNA.1724A>C
g.6179A>C
AA changes E549A Score: 107 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 549
frameshift no
known variant Reference ID: rs686335
databasehomozygous (G/G)heterozygousallele carriers
1000G47710731550
ExAC31638214137
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0360.006
-1.0080.001
(flanking)0.030.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6177wt: 0.7791 / mu: 0.8382 (marginal change - not scored)wt: TATGCCGAGGTGAAA
mu: TATGCCGCGGTGAAA		 TGCC|gagg
Donor marginally increased6180wt: 0.9732 / mu: 0.9733 (marginal change - not scored)wt: GCCGAGGTGAAACAC
mu: GCCGCGGTGAAACAC		 CGAG|gtga
distance from splice site 44
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      549HDEDPQAVTYAEVKHSRPRREMAS
mutated  not conserved    549DPQAVTYAAVKHSRPRREMA
Ptroglodytes  all identical  ENSPTRG00000011452  557RDEDPQAVTYAEVKHSRPRREMA
Mmulatta  not conserved  ENSMMUG00000016574  561HDEDPQAVTYARVKHSGPRREMA
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 
480590TOPO_DOMCytoplasmic (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1869 / 1869
position (AA) of stopcodon in wt / mu AA sequence 623 / 623
position of stopcodon in wt / mu cDNA 1947 / 1947
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 79 / 79
chromosome 19
strand -1
last intron/exon boundary 1681
theoretical NMD boundary in CDS 1552
length of CDS 1869
coding sequence (CDS) position 1646
cDNA position
(for ins/del: last normal base / first normal base)		 1724
gDNA position
(for ins/del: last normal base / first normal base)		 6179
chromosomal position
(for ins/del: last normal base / first normal base)		 54754989
original gDNA sequence snippet CCAGGCAGTGACGTATGCCGAGGTGAAACACTCCAGACCTA
altered gDNA sequence snippet CCAGGCAGTGACGTATGCCGCGGTGAAACACTCCAGACCTA
original cDNA sequence snippet CCAGGCAGTGACGTATGCCGAGGTGAAACACTCCAGACCTA
altered cDNA sequence snippet CCAGGCAGTGACGTATGCCGCGGTGAAACACTCCAGACCTA
wildtype AA sequence MTLTLSVLIC LGLSVGPRTC VQAGTLPKPT LWAEPASVIA RGKPVTLWCQ GPLETEEYRL
DKEGLPWARK RQNPLEPGAK AKFHIPSTVY DSAGRYRCYY ETPAGWSEPS DPLELVATAL
PSPVVASGGN VTLQCDTLDG LLTFVLVEEE QKLPRTLYSQ KLPKGPSQAL FPVGPVTPSC
RWRFRCYYYY RKNPQVWSNP SDLLEILVPG VSRKPSLLIP QGSVVARGGS LTLQCRSDVG
YDIFVLYKEG EHDLVQGSGQ QPQAGLSQAN FTLGPVSRSH GGQYRCYGAH NLSPRWSAPS
DPLDILIAGL IPDIPALSVQ PGPKVASGEN VTLLCQSWHQ IDTFFLTKEG AAHPPLCLKS
KYQSYRHQAE FSMSPVTSAQ GGTYRCYSAI RSYPYLLSSP SYPQELVVSG PSGDPSLSPT
GSTPTPAGPE DQPLTPTGLD PQSGLGRHLG VVTGVSVAFV LLLFLLLFLL LRHRHQSKHR
TSAHFYRPAG AAGPEPKDQG LQKRASPVAD IQEEILNAAV KDTQPKDGVE MDARQSPHDE
DPQAVTYAEV KHSRPRREMA SPPSPLSGEF LDTKDRQAEE DRQMDTERVL SSPGPQASPP
PPRSLPLTLP RCRLLHLKPP RM*
mutated AA sequence MTLTLSVLIC LGLSVGPRTC VQAGTLPKPT LWAEPASVIA RGKPVTLWCQ GPLETEEYRL
DKEGLPWARK RQNPLEPGAK AKFHIPSTVY DSAGRYRCYY ETPAGWSEPS DPLELVATAL
PSPVVASGGN VTLQCDTLDG LLTFVLVEEE QKLPRTLYSQ KLPKGPSQAL FPVGPVTPSC
RWRFRCYYYY RKNPQVWSNP SDLLEILVPG VSRKPSLLIP QGSVVARGGS LTLQCRSDVG
YDIFVLYKEG EHDLVQGSGQ QPQAGLSQAN FTLGPVSRSH GGQYRCYGAH NLSPRWSAPS
DPLDILIAGL IPDIPALSVQ PGPKVASGEN VTLLCQSWHQ IDTFFLTKEG AAHPPLCLKS
KYQSYRHQAE FSMSPVTSAQ GGTYRCYSAI RSYPYLLSSP SYPQELVVSG PSGDPSLSPT
GSTPTPAGPE DQPLTPTGLD PQSGLGRHLG VVTGVSVAFV LLLFLLLFLL LRHRHQSKHR
TSAHFYRPAG AAGPEPKDQG LQKRASPVAD IQEEILNAAV KDTQPKDGVE MDARQSPHDE
DPQAVTYAAV KHSRPRREMA SPPSPLSGEF LDTKDRQAEE DRQMDTERVL SSPGPQASPP
PPRSLPLTLP RCRLLHLKPP RM*
speed 0.38 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