Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999991 (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) chr19:55176262A>GN/A show variant in all transcripts   IGV
HGNC symbol LILRB4
Ensembl transcript ID ENST00000391736
Genbank transcript ID N/A
UniProt peptide Q8NHJ6
alteration type single base exchange
alteration region CDS
DNA changes c.668A>G
cDNA.983A>G
g.20923A>G
AA changes D223G Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 223
frameshift no
known variant Reference ID: rs731170
databasehomozygous (G/G)heterozygousallele carriers
1000G101310742087
ExAC26550-203336217
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.4990
-1.8560
(flanking)-0.7950
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased20915wt: 0.4790 / mu: 0.5479 (marginal change - not scored)wt: GGATCCTTGGAGGAT
mu: GGATCCTTGGAGGGT		 ATCC|ttgg
Donor gained209170.79mu: ATCCTTGGAGGGTCC CCTT|ggag
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      223PLELIVSGSLEDPRPSPTRSVSTA
mutated  not conserved    223PLELIVSGSLEGPRPSPTRSVST
Ptroglodytes  not conserved  ENSPTRG00000011468  223PLELIVSGSLEGPRPSPTRSVST
Mmulatta  no homologue    
Fcatus  all conserved  ENSFCAG00000003601  424PLELQVSGSSGESGPPATDPSST
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 
22259TOPO_DOMExtracellular (Potential).lost
260280TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
281448TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
358363MOTIFITIM motif 1.might get lost (downstream of altered splice site)
360360MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
410415MOTIFITIM motif 2.might get lost (downstream of altered splice site)
440445MOTIFITIM 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 1347 / 1347
position (AA) of stopcodon in wt / mu AA sequence 449 / 449
position of stopcodon in wt / mu cDNA 1662 / 1662
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 316 / 316
chromosome 19
strand 1
last intron/exon boundary 1516
theoretical NMD boundary in CDS 1150
length of CDS 1347
coding sequence (CDS) position 668
cDNA position
(for ins/del: last normal base / first normal base)		 983
gDNA position
(for ins/del: last normal base / first normal base)		 20923
chromosomal position
(for ins/del: last normal base / first normal base)		 55176262
original gDNA sequence snippet CTACCCAGGATCCTTGGAGGATCCCAGGCCCTCACCCACAA
altered gDNA sequence snippet CTACCCAGGATCCTTGGAGGGTCCCAGGCCCTCACCCACAA
original cDNA sequence snippet AGTCTCAGGATCCTTGGAGGATCCCAGGCCCTCACCCACAA
altered cDNA sequence snippet AGTCTCAGGATCCTTGGAGGGTCCCAGGCCCTCACCCACAA
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 LEGPRPSPTR SVSTAAGPED
QPLMPTGSVP HSGLRRHWEV LIGVLVVSIL LLSLLLFLLL QHWRQGKHRT LAQRQADFQR
PPGAAEPEPK DGGLQRRSSP AADVQGENFC AAVKNTQPED GVEMDTRQSP HDEDPQAVTY
AKVKHSRPRR EMASPPSPLS GEFLDTKDRQ AEEDRQMDTE AAASEAPQDV TYAQLHSFTL
RQKATEPPPS QEGASPAEPS VYATLAIH*
speed 0.96 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