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 ENST00000505126
Genbank transcript ID N/A
UniProt peptide Q6UX41
alteration type single base exchange
alteration region CDS
DNA changes c.356C>A
cDNA.714C>A
g.50942C>A
AA changes T119K Score: 78 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 119
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      119PQEVPHSEKRFTRKSVVASQSFQA
mutated  not conserved    119PQEVPHSEKRFKRKSVVASQSFQ
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 
18238TOPO_DOMExtracellular (Potential).lost
19132DOMAINIg-like V-type 1.lost
133222DOMAINIg-like V-type 2.might get lost (downstream of altered splice site)
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 882 / 882
position (AA) of stopcodon in wt / mu AA sequence 294 / 294
position of stopcodon in wt / mu cDNA 1240 / 1240
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 359 / 359
chromosome 5
strand 1
last intron/exon boundary 600
theoretical NMD boundary in CDS 191
length of CDS 882
coding sequence (CDS) position 356
cDNA position
(for ins/del: last normal base / first normal base)		 714
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 MRHAHLSREV ESRVQIGDTF FEPISWHLAT KVLGILCCGL FFGIVGLKIF FSKFQWKIQA
ELDWRRKHGQ AELRDARKHA VEVTLDPETA HPKLCVSDLK TVTHRKAPQE VPHSEKRFTR
KSVVASQSFQ AGKHYWEVDG GHNKRWRVGV CRDDVDRRKE YVTLSPDHGY WVLRLNGEHL
YFTLNPRFIS VFPRTPPTKI GVFLDYECGT ISFFNINDQS LIYTLTCRFE GLLRPYIEYP
SYNEQNGTPI VICPVTQESE KEASWQRASA IPETSNSESS SQATTPFLPR GEM*
mutated AA sequence MRHAHLSREV ESRVQIGDTF FEPISWHLAT KVLGILCCGL FFGIVGLKIF FSKFQWKIQA
ELDWRRKHGQ AELRDARKHA VEVTLDPETA HPKLCVSDLK TVTHRKAPQE VPHSEKRFKR
KSVVASQSFQ AGKHYWEVDG GHNKRWRVGV CRDDVDRRKE YVTLSPDHGY WVLRLNGEHL
YFTLNPRFIS VFPRTPPTKI GVFLDYECGT ISFFNINDQS LIYTLTCRFE GLLRPYIEYP
SYNEQNGTPI VICPVTQESE KEASWQRASA IPETSNSESS SQATTPFLPR GEM*
speed 0.52 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