Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999231 (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
 hyperlink
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 ENST00000270452
Genbank transcript ID NM_006847
UniProt peptide Q8NHJ6
alteration type single base exchange
alteration region CDS
DNA changes c.1241A>G
cDNA.1603A>G
g.24025A>G
AA changes Q414R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 414
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      414ASEAPQDVTYAQLHSFTLRQKATE
mutated  all conserved    414ASEAPQDVTYARLHSFTL
Ptroglodytes  not conserved  ENSPTRG00000011468  413------------------
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000003601  602ASDAPPDVTYAQLNRLTLRRETS
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
410415MOTIFITIM motif 2.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1347 / 1347
position (AA) of stopcodon in wt / mu AA sequence 449 / 449
position of stopcodon in wt / mu cDNA 1709 / 1709
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 363 / 363
chromosome 19
strand 1
last intron/exon boundary 1563
theoretical NMD boundary in CDS 1150
length of CDS 1347
coding sequence (CDS) position 1241
cDNA position
(for ins/del: last normal base / first normal base)		 1603
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 GVEMDTRQSP HDEDPQAVTY
AKVKHSRPRR EMASPPSPLS GEFLDTKDRQ AEEDRQMDTE AAASEAPQDV TYAQLHSFTL
RQKATEPPPS QEGASPAEPS VYATLAIH*
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 GVEMDTRQSP HDEDPQAVTY
AKVKHSRPRR EMASPPSPLS GEFLDTKDRQ AEEDRQMDTE AAASEAPQDV TYARLHSFTL
RQKATEPPPS QEGASPAEPS VYATLAIH*
speed 1.07 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