Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999955 (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) chr19:54782407C>TN/A show variant in all transcripts   IGV
HGNC symbol LILRB2
Ensembl transcript ID ENST00000314446
Genbank transcript ID N/A
UniProt peptide Q8N423
alteration type single base exchange
alteration region CDS
DNA changes c.965G>A
cDNA.1237G>A
g.2633G>A
AA changes R322H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 322
frameshift no
known variant Reference ID: rs1128646
databasehomozygous (T/T)heterozygousallele carriers
1000G3359461281
ExAC14384399918383
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5770
-1.860
(flanking)-0.0370
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 increased2623wt: 0.9950 / mu: 0.9951 (marginal change - not scored)wt: ACCCATCCTTCTTCTCTCCAGGACAGATCCGTGGCACACCC
mu: ACCCATCCTTCTTCTCTCCAGGACAGATCCATGGCACACCC		 ccag|GACA
Donor gained26340.51mu: ATCCATGGCACACCC CCAT|ggca
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      322DPLDILITGQIRGTPFISVQPGPT
mutated  not conserved    322DPLDILITGQIHGTPFISVQPGP
Ptroglodytes  not conserved  ENSPTRG00000011453  322DPLDILITGQIHARPSLSVQPGP
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
330419DOMAINIg-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)
462482TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
483598TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
531536MOTIFITIM motif 1.might get lost (downstream of altered splice site)
560565MOTIFITIM motif 2.might get lost (downstream of altered splice site)
583583CONFLICTR -> G (in Ref. 4; AAH36827).might get lost (downstream of altered splice site)
590595MOTIFITIM 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 1794 / 1794
position (AA) of stopcodon in wt / mu AA sequence 598 / 598
position of stopcodon in wt / mu cDNA 2066 / 2066
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 273 / 273
chromosome 19
strand -1
last intron/exon boundary 1920
theoretical NMD boundary in CDS 1597
length of CDS 1794
coding sequence (CDS) position 965
cDNA position
(for ins/del: last normal base / first normal base)		 1237
gDNA position
(for ins/del: last normal base / first normal base)		 2633
chromosomal position
(for ins/del: last normal base / first normal base)		 54782407
original gDNA sequence snippet CTTCTCTCCAGGACAGATCCGTGGCACACCCTTCATCTCAG
altered gDNA sequence snippet CTTCTCTCCAGGACAGATCCATGGCACACCCTTCATCTCAG
original cDNA sequence snippet CCTGATCACAGGACAGATCCGTGGCACACCCTTCATCTCAG
altered cDNA sequence snippet CCTGATCACAGGACAGATCCATGGCACACCCTTCATCTCAG
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 GGQYRCYGAH
NLSSECSAPS DPLDILITGQ IHGTPFISVQ 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 1.00 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