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) chr19:54725156T>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.754A>G
cDNA.756A>G
g.21975A>G
AA changes N252D Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 252
frameshift no
known variant Reference ID: rs181211220
databasehomozygous (C/C)heterozygousallele carriers
1000G16065982204
ExAC10446114811594
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3640.005
0.1370.005
(flanking)-0.0230.005
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 increased21979wt: 0.2582 / mu: 0.2713 (marginal change - not scored)wt: CTCTGATGTCGGCTACAACAGATTTGTTCTGTATAAGGAGG
mu: CTCTGATGTCGGCTACGACAGATTTGTTCTGTATAAGGAGG		 acag|ATTT
Donor gained219690.96mu: ATGTCGGCTACGACA GTCG|gcta
distance from splice site 96
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      252LTLQCGSDVGYNRFVLYKEGERDF
mutated  all conserved    252LTLQCGSDVGYDRFVLYKEGERD
Ptroglodytes  all conserved  ENSPTRG00000011451  252LTLQCGSDVGYDRFVLYKEGERD
Mmulatta  all conserved  ENSMMUG00000021880  252LTLQCGSDAGYDRFALYKERERD
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
225314DOMAINIg-like C2-type 1.lost
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 754
cDNA position
(for ins/del: last normal base / first normal base)		 756
gDNA position
(for ins/del: last normal base / first normal base)		 21975
chromosomal position
(for ins/del: last normal base / first normal base)		 54725156
original gDNA sequence snippet GTGGCTCTGATGTCGGCTACAACAGATTTGTTCTGTATAAG
altered gDNA sequence snippet GTGGCTCTGATGTCGGCTACGACAGATTTGTTCTGTATAAG
original cDNA sequence snippet GTGGCTCTGATGTCGGCTACAACAGATTTGTTCTGTATAAG
altered cDNA sequence snippet GTGGCTCTGATGTCGGCTACGACAGATTTGTTCTGTATAAG
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 GSLEAQEYQL
DKEGSPEPLD RNNPLEPKNK ARFSIPSMTQ HHAGRYRCHY YSSAGWSEPS DPLELVMTGF
YNKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSGGFQAL
FPVGPVTPSH RWRFTCYYYY TNTPRVWSHP SDPLEILPSG VSRKPSLLTL QGPVLAPGQS
LTLQCGSDVG YDRFVLYKEG 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 1.14 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