Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999998618882135 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:54725798G>TN/A show variant in all transcripts   IGV
HGNC symbol LILRA6
Ensembl transcript ID ENST00000391735
Genbank transcript ID N/A
UniProt peptide Q6PI73
alteration type single base exchange
alteration region intron
DNA changes g.21333C>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs75069054
databasehomozygous (T/T)heterozygousallele carriers
1000G68412841968
ExAC56801042916109
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2590.001
-0.3680.001
(flanking)1.6410.003
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change occurs after stopcodon (at aa 408)
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased21332wt: 0.33 / mu: 0.60wt: TGTTCCCTGTGGGCCCCGTGACCCCCAGCCACAGGTGGAGG
mu: TGTTCCCTGTGGGCCCCGTGAACCCCAGCCACAGGTGGAGG		 gtga|CCCC
Donor increased21328wt: 0.39 / mu: 0.99wt: GGCCCCGTGACCCCC
mu: GGCCCCGTGAACCCC		 CCCC|gtga
distance from splice site 2684
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 1613
theoretical NMD boundary in CDS 1560
length of CDS 582
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 21333
chromosomal position
(for ins/del: last normal base / first normal base)		 54725798
original gDNA sequence snippet GTTCCCTGTGGGCCCCGTGACCCCCAGCCACAGGTGGAGGT
altered gDNA sequence snippet GTTCCCTGTGGGCCCCGTGAACCCCAGCCACAGGTGGAGGT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MTPALTALLC LGLSLGPRTR VQAGPFPKPT LWAEPGSVIS WGSPVTIWCQ GSLEAQEYQL
DKEGSPEPLD RNNPLEPKNK ARFSIPSMTQ HHAGRYRCHY YSSAGWSEPS DPLELVMTGF
YNKPTLSALP SPVVASGGNM TLRCGSQKGY HHFVLMKEGE HQLPRTLDSQ QLHSGGFQAL
FPVGPVTPSH RRV*
mutated AA sequence N/A
speed 0.86 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