Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.995678933580939 (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) chr6:32363816T>CN/A show variant in all transcripts   IGV
HGNC symbol BTNL2
Ensembl transcript ID ENST00000468270
Genbank transcript ID N/A
UniProt peptide Q9UIR0
alteration type single base exchange
alteration region CDS
DNA changes c.1078A>G
cDNA.1358A>G
g.15696A>G
AA changes S360G Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 360
frameshift no
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 alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost15696sequence motif lost- wt: GTAA|gtaa
 mu: GTAG.gtaa
Donor lost156960.76wt: TGGTAAGTAAGAATT GTAA|gtaa
Donor gained156950.98mu: GTGGTAGGTAAGAAT GGTA|ggta
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      360YQEASLDLKVVSLGSSPLITVEGQ
mutated  not conserved    360YQEASLDLKVVGLGSSPLITVEG
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000024340  360YQEARVDVQVMAVGSTPRITREV
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 
24455TOPO_DOMExtracellular (Potential).lost
427427CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
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 1729 / 1729
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 281 / 281
chromosome 6
strand -1
last intron/exon boundary 1736
theoretical NMD boundary in CDS 1405
length of CDS 1449
coding sequence (CDS) position 1078
cDNA position
(for ins/del: last normal base / first normal base)		 1358
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 GTTTGGATCTGAAGGTGGTAAGTCTGGGTTCTTCCCCACTG
altered cDNA sequence snippet GTTTGGATCTGAAGGTGGTAGGTCTGGGTTCTTCCCCACTG
wildtype AA sequence MVDFPGYNLS GAVASFLFIL LTMKQSEDFR VIGPAHPILA GVGEDALLTC QLLPKRTTMH
VEVRWYRSEP STPVFVHRDG VEVTEMQMEE YRGWVEWIEN GIAKGNVALK IHNIQPSDNG
QYWCHFQDGN YCGETSLLLK VAGLGSAPSI HMEGPGESGV QLVCTARGWF PEPQVYWEDI
RGEKLLAVSE HRIQDKDGLF YAEATLVVRN ASAESVSCLV HNPVLTEEKG SVISLPEKLQ
TELASLKVNG PSQPILVRVG EDIQLTCYLS PKANAQSMEV RWDRSHRYPA VHVYMDGDHV
AGEQMAEYRG RTVLVSDAID EGRLTLQILS ARPSDDGQYR CLFEKDDVYQ EASLDLKVVS
LGSSPLITVE GQEDGEMQPM CSSDGWFPQP HVPWRDMEGK TIPSSSQALT QGSHGLFHVQ
TLLRVTNISA VDVTCSISIP FLGEEKIATF SLSESRMTFL WKTLLVWGLL LAVAVGLPRK
RS*
mutated AA sequence MVDFPGYNLS GAVASFLFIL LTMKQSEDFR VIGPAHPILA GVGEDALLTC QLLPKRTTMH
VEVRWYRSEP STPVFVHRDG VEVTEMQMEE YRGWVEWIEN GIAKGNVALK IHNIQPSDNG
QYWCHFQDGN YCGETSLLLK VAGLGSAPSI HMEGPGESGV QLVCTARGWF PEPQVYWEDI
RGEKLLAVSE HRIQDKDGLF YAEATLVVRN ASAESVSCLV HNPVLTEEKG SVISLPEKLQ
TELASLKVNG PSQPILVRVG EDIQLTCYLS PKANAQSMEV RWDRSHRYPA VHVYMDGDHV
AGEQMAEYRG RTVLVSDAID EGRLTLQILS ARPSDDGQYR CLFEKDDVYQ EASLDLKVVG
LGSSPLITVE GQEDGEMQPM CSSDGWFPQP HVPWRDMEGK TIPSSSQALT QGSHGLFHVQ
TLLRVTNISA VDVTCSISIP FLGEEKIATF SLSESRMTFL WKTLLVWGLL LAVAVGLPRK
RS*
speed 1.22 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