Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998918 (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) chr19:54782724G>AN/A show variant in all transcripts   IGV
HGNC symbol LILRB2
Ensembl transcript ID ENST00000391748
Genbank transcript ID NM_001080978
UniProt peptide Q8N423
alteration type single base exchange
alteration region CDS
DNA changes c.898C>T
cDNA.1026C>T
g.2316C>T
AA changes H300Y Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 300
frameshift no
known variant Reference ID: rs7247538
databasehomozygous (A/A)heterozygousallele carriers
1000G3509531303
ExAC13619552919148
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0980
-0.0530
(flanking)-1.1510
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 58
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      300SYGGQYRCYGAHNLSSECSAPSDP
mutated  all conserved    300SYGGQYRCYGAYNLSSECSAPSD
Ptroglodytes  all identical  ENSPTRG00000011453  300SHGGQYRCCGAHNLSSEWSAPSD
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
22461TOPO_DOMExtracellular (Potential).lost
230318DOMAINIg-like C2-type 3.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1794 / 1794
position (AA) of stopcodon in wt / mu AA sequence 598 / 598
position of stopcodon in wt / mu cDNA 1922 / 1922
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 129 / 129
chromosome 19
strand -1
last intron/exon boundary 1776
theoretical NMD boundary in CDS 1597
length of CDS 1794
coding sequence (CDS) position 898
cDNA position
(for ins/del: last normal base / first normal base)		 1026
gDNA position
(for ins/del: last normal base / first normal base)		 2316
chromosomal position
(for ins/del: last normal base / first normal base)		 54782724
original gDNA sequence snippet AGTACAGATGCTACGGTGCACACAACCTCTCCTCTGAGTGC
altered gDNA sequence snippet AGTACAGATGCTACGGTGCATACAACCTCTCCTCTGAGTGC
original cDNA sequence snippet AGTACAGATGCTACGGTGCACACAACCTCTCCTCTGAGTGC
altered cDNA sequence snippet AGTACAGATGCTACGGTGCATACAACCTCTCCTCTGAGTGC
wildtype AA sequence MTPIVTVLIC LGLSLGPRTH VQTGTIPKPT LWAEPDSVIT QGSPVTLSCQ GSLEAQEYRL
YREKKSASWI TRIRPELVKN GQFHIPSITW EHTGRYGCQY YSRARWSELS DPLVLVMTGA
YPKPTLSAQP SPVVTSGGRV TLQCESQVAF GGFILCKEGE EEHPQCLNSQ PHARGSSRAI
FSVGPVSPNR RWSHRCYGYD LNSPYVWSSP SDLLELLVPG VSKKPSLSVQ PGPVVAPGES
LTLQCVSDVG YDRFVLYKEG ERDLRQLPGR QPQAGLSQAN FTLGPVSRSY GGQYRCYGAH
NLSSECSAPS DPLDILITGQ IRGTPFISVQ PGPTVASGEN VTLLCQSWRQ FHTFLLTKAG
AADAPLRLRS IHEYPKYQAE FPMSPVTSAH AGTYRCYGSL NSDPYLLSHP SEPLELVVSG
PSMGSSPPPT GPISTPGPED QPLTPTGSDP QSGLGRHLGV VIGILVAVVL LLLLLLLLFL
ILRHRRQGKH WTSTQRKADF QHPAGAVGPE PTDRGLQWRS SPAADAQEEN LYAAVKDTQP
EDGVEMDTRA AASEAPQDVT YAQLHSLTLR RKATEPPPSQ EREPPAEPSI YATLAIH*
mutated AA sequence MTPIVTVLIC LGLSLGPRTH VQTGTIPKPT LWAEPDSVIT QGSPVTLSCQ GSLEAQEYRL
YREKKSASWI TRIRPELVKN GQFHIPSITW EHTGRYGCQY YSRARWSELS DPLVLVMTGA
YPKPTLSAQP SPVVTSGGRV TLQCESQVAF GGFILCKEGE EEHPQCLNSQ PHARGSSRAI
FSVGPVSPNR RWSHRCYGYD LNSPYVWSSP SDLLELLVPG VSKKPSLSVQ PGPVVAPGES
LTLQCVSDVG YDRFVLYKEG ERDLRQLPGR QPQAGLSQAN FTLGPVSRSY GGQYRCYGAY
NLSSECSAPS DPLDILITGQ IRGTPFISVQ PGPTVASGEN VTLLCQSWRQ FHTFLLTKAG
AADAPLRLRS IHEYPKYQAE FPMSPVTSAH AGTYRCYGSL NSDPYLLSHP SEPLELVVSG
PSMGSSPPPT GPISTPGPED QPLTPTGSDP QSGLGRHLGV VIGILVAVVL LLLLLLLLFL
ILRHRRQGKH WTSTQRKADF QHPAGAVGPE PTDRGLQWRS SPAADAQEEN LYAAVKDTQP
EDGVEMDTRA AASEAPQDVT YAQLHSLTLR RKATEPPPSQ EREPPAEPSI YATLAIH*
speed 1.28 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