Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 1.59062653014539e-13 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr6:32363816T>CN/A show variant in all transcripts   IGV
HGNC symbol BTNL2
Ensembl transcript ID ENST00000429232
Genbank transcript ID N/A
UniProt peptide Q9UIR0
alteration type single base exchange
alteration region intron
DNA changes g.15696A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2076530
databasehomozygous (C/C)heterozygousallele carriers
1000G41711041521
ExAC103511206522416
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5731
0.7540.986
(flanking)0.4520.959
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained156950.98mu: GTGGTAGGTAAGAAT GGTA|ggta
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
24455TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
236355DOMAINIg-like V-type 3.might get lost (downstream of altered splice site)
267267DISULFIDBy similarity.might get lost (downstream of altered splice site)
341341DISULFIDBy similarity.might get lost (downstream of altered splice site)
427427CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
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 1 / 1
chromosome 6
strand -1
last intron/exon boundary 796
theoretical NMD boundary in CDS 745
length of CDS 816
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)		 15696
chromosomal position
(for ins/del: last normal base / first normal base)		 32363816
original gDNA sequence snippet GTTTGGATCTGAAGGTGGTAAGTAAGAATTCTAGATAGATA
altered gDNA sequence snippet GTTTGGATCTGAAGGTGGTAGGTAAGAATTCTAGATAGATA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MVDFPGYNLS GAVASFLFIL LTMKQSEDFR VIGPAHPILA GVGEDALLTC QLLPKRTTMH
VEVRWYRSEP STPVFVHRDG VEVTEMQMEE YRGWVEWIEN GIAKGNVALK IHNIQPSDNG
QYWCHFQDGN YCGETSLLLK VAAVLRDDII ASLKVNGPSQ PILVRVGEDI QLTCYLSPKA
NAQSMEVRWD RSHRYPAVHV YMDGDHVAGE QMAEYRGRTV LVSDAIDEGR LTLQILSARP
SDDGQYRCLF EKDDVYQEAS LDLKVVWVLP H*
mutated AA sequence N/A
speed 1.03 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