Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998918 (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) chr19:54782724G>AN/A show variant in all transcripts   IGV
HGNC symbol LILRB2
Ensembl transcript ID ENST00000434421
Genbank transcript ID N/A
UniProt peptide Q8N423
alteration type single base exchange
alteration region CDS
DNA changes c.550C>T
cDNA.991C>T
g.2316C>T
AA changes H184Y Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 184
frameshift no
known variant Reference ID: rs7247538
databasehomozygous (A/A)heterozygousallele carriers
1000G3509531303
ExAC13619552919148
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0980
-0.0530
(flanking)-1.1510
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 58
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      184SYGGQYRCYGAHNLSSECSAPSDP
mutated  all conserved    184YGAYNLSSECSAPSD
Ptroglodytes  all identical  ENSPTRG00000011453  300CGAHNLSSEWSAPSD
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
111229DOMAINIg-like C2-type 2.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1449 / 1449
position (AA) of stopcodon in wt / mu AA sequence 483 / 483
position of stopcodon in wt / mu cDNA 1890 / 1890
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 442 / 442
chromosome 19
strand -1
last intron/exon boundary 1744
theoretical NMD boundary in CDS 1252
length of CDS 1449
coding sequence (CDS) position 550
cDNA position
(for ins/del: last normal base / first normal base)		 991
gDNA position
(for ins/del: last normal base / first normal base)		 2316
chromosomal position
(for ins/del: last normal base / first normal base)		 54782724
original gDNA sequence snippet AGTACAGATGCTACGGTGCACACAACCTCTCCTCTGAGTGC
altered gDNA sequence snippet AGTACAGATGCTACGGTGCATACAACCTCTCCTCTGAGTGC
original cDNA sequence snippet AGTACAGATGCTACGGTGCACACAACCTCTCCTCTGAGTGC
altered cDNA sequence snippet AGTACAGATGCTACGGTGCATACAACCTCTCCTCTGAGTGC
wildtype AA sequence MTGAYPKPTL SAQPSPVVTS GGRVTLQCES QVAFGGFILC KEGEEEHPQC LNSQPHARGS
SRAIFSVGPV SPNRRWSHRC YGYDLNSPYV WSSPSDLLEL LVPGVSKKPS LSVQPGPVVA
PGESLTLQCV SDVGYDRFVL YKEGERDLRQ LPGRQPQAGL SQANFTLGPV SRSYGGQYRC
YGAHNLSSEC SAPSDPLDIL ITGQIRGTPF ISVQPGPTVA SGENVTLLCQ SWRQFHTFLL
TKAGAADAPL RLRSIHEYPK YQAEFPMSPV TSAHAGTYRC YGSLNSDPYL LSHPSEPLEL
VVSGPSMGSS PPPTGPISTP AGPEDQPLTP TGSDPQSGLG RHLGVVIGIL VAVVLLLLLL
LLLFLILRHR RQGKHWTSTQ RKADFQHPAG AVGPEPTDRG LQWRSSPAAD AQEENLYAAV
KDTQPEDGVE MDTRAAASEA PQDVTYAQLH SLTLRRKATE PPPSQEREPP AEPSIYATLA
IH*
mutated AA sequence MTGAYPKPTL SAQPSPVVTS GGRVTLQCES QVAFGGFILC KEGEEEHPQC LNSQPHARGS
SRAIFSVGPV SPNRRWSHRC YGYDLNSPYV WSSPSDLLEL LVPGVSKKPS LSVQPGPVVA
PGESLTLQCV SDVGYDRFVL YKEGERDLRQ LPGRQPQAGL SQANFTLGPV SRSYGGQYRC
YGAYNLSSEC SAPSDPLDIL ITGQIRGTPF ISVQPGPTVA SGENVTLLCQ SWRQFHTFLL
TKAGAADAPL RLRSIHEYPK YQAEFPMSPV TSAHAGTYRC YGSLNSDPYL LSHPSEPLEL
VVSGPSMGSS PPPTGPISTP AGPEDQPLTP TGSDPQSGLG RHLGVVIGIL VAVVLLLLLL
LLLFLILRHR RQGKHWTSTQ RKADFQHPAG AVGPEPTDRG LQWRSSPAAD AQEENLYAAV
KDTQPEDGVE MDTRAAASEA PQDVTYAQLH SLTLRRKATE PPPSQEREPP AEPSIYATLA
IH*
speed 1.30 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