Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999999 (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) chr5:180338368A>GN/A show variant in all transcripts   IGV
HGNC symbol BTNL8
Ensembl transcript ID ENST00000340184
Genbank transcript ID NM_001040462
UniProt peptide Q6UX41
alteration type single base exchange
alteration region CDS
DNA changes c.427A>G
cDNA.633A>G
g.12292A>G
AA changes T143A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 143
frameshift no
known variant Reference ID: rs2276995
databasehomozygous (G/G)heterozygousallele carriers
1000G52311201643
ExAC93361409523431
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.7990
-1.4010
(flanking)-3.6510
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased12283wt: 0.59 / mu: 0.70wt: CACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGTT
mu: CACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTT		 ctca|TTTC
Acc marginally increased12300wt: 0.7056 / mu: 0.7155 (marginal change - not scored)wt: CTCATTTCCATCACGGGATATGTTGATAGAGACATCCAGCT
mu: CTCATTTCCATCGCGGGATATGTTGATAGAGACATCCAGCT		 atat|GTTG
Acc marginally increased12293wt: 0.8593 / mu: 0.8751 (marginal change - not scored)wt: AGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGACA
mu: AGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGACA		 tcac|GGGA
Acc marginally increased12288wt: 0.9542 / mu: 0.9706 (marginal change - not scored)wt: GGCTCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAG
mu: GGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAG		 ttcc|ATCA
Acc increased12284wt: 0.29 / mu: 0.38wt: ACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGTTG
mu: ACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTTG		 tcat|TTCC
Acc increased12291wt: 0.35 / mu: 0.72wt: TCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGA
mu: TCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGA		 catc|ACGG
Acc marginally increased12290wt: 0.8637 / mu: 0.9037 (marginal change - not scored)wt: CTCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAG
mu: CTCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAG		 ccat|CACG
Acc marginally increased12282wt: 0.2015 / mu: 0.2457 (marginal change - not scored)wt: GCACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGT
mu: GCACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGT		 tctc|ATTT
distance from splice site 30
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      143SALGSVPLISITGYVDRDIQLLCQ
mutated  not conserved    143SALGSVPLISIAGYVDRDIQLLC
Ptroglodytes  not conserved  ENSPTRG00000017644  143SALGSVPLISIAGYVDRDIQLLC
Mmulatta  not conserved  ENSMMUG00000019858  143SALGSVPLISIVGYVDRGIQLLC
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 
18238TOPO_DOMExtracellular (Potential).lost
133222DOMAINIg-like V-type 2.lost
154154DISULFIDBy similarity.might get lost (downstream of altered splice site)
206206DISULFIDBy similarity.might get lost (downstream of altered splice site)
239259TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
260500TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
270466DOMAINB30.2/SPRY.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1503 / 1503
position (AA) of stopcodon in wt / mu AA sequence 501 / 501
position of stopcodon in wt / mu cDNA 1709 / 1709
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 207 / 207
chromosome 5
strand 1
last intron/exon boundary 1069
theoretical NMD boundary in CDS 812
length of CDS 1503
coding sequence (CDS) position 427
cDNA position
(for ins/del: last normal base / first normal base)		 633
gDNA position
(for ins/del: last normal base / first normal base)		 12292
chromosomal position
(for ins/del: last normal base / first normal base)		 180338368
original gDNA sequence snippet CAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGAC
altered gDNA sequence snippet CAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGAC
original cDNA sequence snippet CAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGAC
altered cDNA sequence snippet CAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGAC
wildtype AA sequence MALMLSLVLS LLKLGSGQWQ VFGPDKPVQA LVGEDAAFSC FLSPKTNAEA MEVRFFRGQF
SSVVHLYRDG KDQPFMQMPQ YQGRTKLVKD SIAEGRISLR LENITVLDAG LYGCRISSQS
YYQKAIWELQ VSALGSVPLI SITGYVDRDI QLLCQSSGWF PRPTAKWKGP QGQDLSTDSR
TNRDMHGLFD VEISLTVQEN AGSISCSMRH AHLSREVESR VQIGDTFFEP ISWHLATKVL
GILCCGLFFG IVGLKIFFSK FQWKIQAELD WRRKHGQAEL RDARKHAVEV TLDPETAHPK
LCVSDLKTVT HRKAPQEVPH SEKRFTRKSV VASQSFQAGK HYWEVDGGHN KRWRVGVCRD
DVDRRKEYVT LSPDHGYWVL RLNGEHLYFT LNPRFISVFP RTPPTKIGVF LDYECGTISF
FNINDQSLIY TLTCRFEGLL RPYIEYPSYN EQNGTPIVIC PVTQESEKEA SWQRASAIPE
TSNSESSSQA TTPFLPRGEM *
mutated AA sequence MALMLSLVLS LLKLGSGQWQ VFGPDKPVQA LVGEDAAFSC FLSPKTNAEA MEVRFFRGQF
SSVVHLYRDG KDQPFMQMPQ YQGRTKLVKD SIAEGRISLR LENITVLDAG LYGCRISSQS
YYQKAIWELQ VSALGSVPLI SIAGYVDRDI QLLCQSSGWF PRPTAKWKGP QGQDLSTDSR
TNRDMHGLFD VEISLTVQEN AGSISCSMRH AHLSREVESR VQIGDTFFEP ISWHLATKVL
GILCCGLFFG IVGLKIFFSK FQWKIQAELD WRRKHGQAEL RDARKHAVEV TLDPETAHPK
LCVSDLKTVT HRKAPQEVPH SEKRFTRKSV VASQSFQAGK HYWEVDGGHN KRWRVGVCRD
DVDRRKEYVT LSPDHGYWVL RLNGEHLYFT LNPRFISVFP RTPPTKIGVF LDYECGTISF
FNINDQSLIY TLTCRFEGLL RPYIEYPSYN EQNGTPIVIC PVTQESEKEA SWQRASAIPE
TSNSESSSQA TTPFLPRGEM *
speed 0.99 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