Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99284486843359 (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 ENST00000544175
Genbank transcript ID N/A
UniProt peptide Q9UIR0
alteration type single base exchange
alteration region CDS
DNA changes c.247A>G
cDNA.555A>G
g.15696A>G
AA changes S83G Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 83
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      83YQEASLDLKVVSLGSSPLITVEGQ
mutated  not conserved    83YQEASLDLKVVGLGSSPLITVEG
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
29140DOMAINIg-like V-type 1.lost
124124DISULFIDBy similarity.might get lost (downstream of altered splice site)
142234DOMAINIg-like V-type 2.might get lost (downstream of altered splice site)
164164DISULFIDBy similarity.might get lost (downstream of altered splice site)
210210CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
218218DISULFIDBy similarity.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 normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 537 / 537
position (AA) of stopcodon in wt / mu AA sequence 179 / 179
position of stopcodon in wt / mu cDNA 845 / 845
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 309 / 309
chromosome 6
strand -1
last intron/exon boundary 556
theoretical NMD boundary in CDS 197
length of CDS 537
coding sequence (CDS) position 247
cDNA position
(for ins/del: last normal base / first normal base)		 555
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 MEVRWDRSHR YPAVHVYMDG DHVAGEQMAE YRGRTVLVSD AIDEGRLTLQ ILSARPSDDG
QYRCLFEKDD VYQEASLDLK VVSLGSSPLI TVEGQEDGEM QPMCSSDGWF PQPHVPWRDM
EGKTIPSSSQ ALTQGSHGLF HVQTLLRVTN ISAVDVTCSI SIPFLGEEKI ATFSLSGW*
mutated AA sequence MEVRWDRSHR YPAVHVYMDG DHVAGEQMAE YRGRTVLVSD AIDEGRLTLQ ILSARPSDDG
QYRCLFEKDD VYQEASLDLK VVGLGSSPLI TVEGQEDGEM QPMCSSDGWF PQPHVPWRDM
EGKTIPSSSQ ALTQGSHGLF HVQTLLRVTN ISAVDVTCSI SIPFLGEEKI ATFSLSGW*
speed 1.19 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