Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998451 (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) chr5:180377018C>AN/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.977C>A
cDNA.1183C>A
g.50942C>A
AA changes T326K Score: 78 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 326
frameshift no
known variant Reference ID: rs7703365
databasehomozygous (A/A)heterozygousallele carriers
1000G219538757
ExAC5123969414817
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4580.004
-1.1920
(flanking)-0.350
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased50939wt: 0.28 / mu: 0.36wt: GAGATTTACAAGGAA
mu: GAGATTTAAAAGGAA		 GATT|taca
Donor marginally increased50947wt: 0.3714 / mu: 0.4001 (marginal change - not scored)wt: CAAGGAAGAGTGTGG
mu: AAAGGAAGAGTGTGG		 AGGA|agag
Donor marginally increased50945wt: 0.9944 / mu: 0.9946 (marginal change - not scored)wt: TACAAGGAAGAGTGT
mu: TAAAAGGAAGAGTGT		 CAAG|gaag
Donor marginally increased50943wt: 0.9062 / mu: 0.9193 (marginal change - not scored)wt: TTTACAAGGAAGAGT
mu: TTTAAAAGGAAGAGT		 TACA|agga
distance from splice site 115
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      326PQEVPHSEKRFTRKSVVASQSFQA
mutated  not conserved    326PQEVPHSEKRFKRKSVVASQSFQ
Ptroglodytes  all identical  ENSPTRG00000017644  326PQDVPHSEKRFTRKSVVASQSFQ
Mmulatta  no alignment  ENSMMUG00000019858  n/a
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 
260500TOPO_DOMCytoplasmic (Potential).lost
270466DOMAINB30.2/SPRY.lost
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 977
cDNA position
(for ins/del: last normal base / first normal base)		 1183
gDNA position
(for ins/del: last normal base / first normal base)		 50942
chromosomal position
(for ins/del: last normal base / first normal base)		 180377018
original gDNA sequence snippet TCACTCTGAGAAGAGATTTACAAGGAAGAGTGTGGTGGCTT
altered gDNA sequence snippet TCACTCTGAGAAGAGATTTAAAAGGAAGAGTGTGGTGGCTT
original cDNA sequence snippet TCACTCTGAGAAGAGATTTACAAGGAAGAGTGTGGTGGCTT
altered cDNA sequence snippet TCACTCTGAGAAGAGATTTAAAAGGAAGAGTGTGGTGGCTT
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 SITGYVDRDI QLLCQSSGWF PRPTAKWKGP QGQDLSTDSR
TNRDMHGLFD VEISLTVQEN AGSISCSMRH AHLSREVESR VQIGDTFFEP ISWHLATKVL
GILCCGLFFG IVGLKIFFSK FQWKIQAELD WRRKHGQAEL RDARKHAVEV TLDPETAHPK
LCVSDLKTVT HRKAPQEVPH SEKRFKRKSV VASQSFQAGK HYWEVDGGHN KRWRVGVCRD
DVDRRKEYVT LSPDHGYWVL RLNGEHLYFT LNPRFISVFP RTPPTKIGVF LDYECGTISF
FNINDQSLIY TLTCRFEGLL RPYIEYPSYN EQNGTPIVIC PVTQESEKEA SWQRASAIPE
TSNSESSSQA TTPFLPRGEM *
speed 0.53 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