Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999714369 (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) chr19:55179364A>GN/A show variant in all transcripts   IGV
HGNC symbol LILRB4
Ensembl transcript ID ENST00000391734
Genbank transcript ID N/A
UniProt peptide Q8NHJ6
alteration type single base exchange
alteration region CDS
DNA changes c.1082A>G
cDNA.1118A>G
g.24025A>G
AA changes Q361R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 361
frameshift no
known variant Reference ID: rs1048801
databasehomozygous (G/G)heterozygousallele carriers
1000G36311621525
ExAC85921558324175
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3650.175
0.2470.091
(flanking)-0.9330.008
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 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      361ASEAPQDVTYAQLHSFTLRQKATE
mutated  all conserved    361RLHSFTLRQKAT
Ptroglodytes  all identical  ENSPTRG00000011468  361QLHSLTLRQKAT
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000003601  576ASDAPPDVTYAQLNRLTLRRETS
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 
281448TOPO_DOMCytoplasmic (Potential).lost
358363MOTIFITIM motif 1.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1188 / 1188
position (AA) of stopcodon in wt / mu AA sequence 396 / 396
position of stopcodon in wt / mu cDNA 1224 / 1224
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 37 / 37
chromosome 19
strand 1
last intron/exon boundary 1078
theoretical NMD boundary in CDS 991
length of CDS 1188
coding sequence (CDS) position 1082
cDNA position
(for ins/del: last normal base / first normal base)		 1118
gDNA position
(for ins/del: last normal base / first normal base)		 24025
chromosomal position
(for ins/del: last normal base / first normal base)		 55179364
original gDNA sequence snippet CCAGGATGTGACCTACGCCCAGCTGCACAGCTTTACCCTCA
altered gDNA sequence snippet CCAGGATGTGACCTACGCCCGGCTGCACAGCTTTACCCTCA
original cDNA sequence snippet CCAGGATGTGACCTACGCCCAGCTGCACAGCTTTACCCTCA
altered cDNA sequence snippet CCAGGATGTGACCTACGCCCGGCTGCACAGCTTTACCCTCA
wildtype AA sequence MIPTFTALLC LGLSLGPRTH MQAGPLPKPT LWAEPGSVIS WGNSVTIWCQ GTLEAREYRL
DKEESPAPWD RQNPLEPKNK ARFSIPSMTE DYAGRYRCYY RSPVGWSQPS DPLELVMTGA
YSKPTLSALP SPLVTSGKSV TLLCQSRSPM DTFLLIKERA AHPLLHLRSE HGAQQHQAEF
PMSPVTSVHG GTYRCFSSHG FSHYLLSHPS DPLELIVSGS LEDPRPSPTR SVSTAAGPED
QPLMPTGSVP HSGLRRHWEV LIGVLVVSIL LLSLLLFLLL QHWRQGKHRT LAQRQADFQR
PPGAAEPEPK DGGLQRRSSP AADVQGENFC AAVKNTQPED GVEMDTRAAA SEAPQDVTYA
QLHSFTLRQK ATEPPPSQEG ASPAEPSVYA TLAIH*
mutated AA sequence MIPTFTALLC LGLSLGPRTH MQAGPLPKPT LWAEPGSVIS WGNSVTIWCQ GTLEAREYRL
DKEESPAPWD RQNPLEPKNK ARFSIPSMTE DYAGRYRCYY RSPVGWSQPS DPLELVMTGA
YSKPTLSALP SPLVTSGKSV TLLCQSRSPM DTFLLIKERA AHPLLHLRSE HGAQQHQAEF
PMSPVTSVHG GTYRCFSSHG FSHYLLSHPS DPLELIVSGS LEDPRPSPTR SVSTAAGPED
QPLMPTGSVP HSGLRRHWEV LIGVLVVSIL LLSLLLFLLL QHWRQGKHRT LAQRQADFQR
PPGAAEPEPK DGGLQRRSSP AADVQGENFC AAVKNTQPED GVEMDTRAAA SEAPQDVTYA
RLHSFTLRQK ATEPPPSQEG ASPAEPSVYA TLAIH*
speed 1.11 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