Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999961 (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
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:180376972C>GN/A show variant in all transcripts   IGV
HGNC symbol BTNL8
Ensembl transcript ID ENST00000533815
Genbank transcript ID NM_001159710
UniProt peptide Q6UX41
alteration type single base exchange
alteration region CDS
DNA changes c.379C>G
cDNA.668C>G
g.50896C>G
AA changes H127D Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 127
frameshift no
known variant Reference ID: rs142207026
databasehomozygous (G/G)heterozygousallele carriers
1000G3846791063
ExAC75371287120408
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0380.004
0.1090.001
(flanking)-0.1360
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      127KLCVSDLKTVTHRKAPQEVPHSEK
mutated  not conserved    127DLKTVTDRKAPQEVPHSE
Ptroglodytes  not conserved  ENSPTRG00000017644  311NLKTVTERKAPQDVPHSE
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
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 951 / 951
position (AA) of stopcodon in wt / mu AA sequence 317 / 317
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 290 / 290
chromosome 5
strand 1
last intron/exon boundary 600
theoretical NMD boundary in CDS 260
length of CDS 951
coding sequence (CDS) position 379
cDNA position
(for ins/del: last normal base / first normal base)		 668
gDNA position
(for ins/del: last normal base / first normal base)		 50896
chromosomal position
(for ins/del: last normal base / first normal base)		 180376972
original gDNA sequence snippet CTGATCTGAAAACTGTAACCCATAGAAAAGCTCCCCAGGAG
altered gDNA sequence snippet CTGATCTGAAAACTGTAACCGATAGAAAAGCTCCCCAGGAG
original cDNA sequence snippet CTGATCTGAAAACTGTAACCCATAGAAAAGCTCCCCAGGAG
altered cDNA sequence snippet CTGATCTGAAAACTGTAACCGATAGAAAAGCTCCCCAGGAG
wildtype AA sequence MHGLFDVEIS LTVQENAGSI SCSMRHAHLS REVESRVQIG DTFFEPISWH LATKVLGILC
CGLFFGIVGL KIFFSKFQWK IQAELDWRRK HGQAELRDAR KHAVEVTLDP ETAHPKLCVS
DLKTVTHRKA PQEVPHSEKR FTRKSVVASQ SFQAGKHYWE VDGGHNKRWR VGVCRDDVDR
RKEYVTLSPD HGYWVLRLNG EHLYFTLNPR FISVFPRTPP TKIGVFLDYE CGTISFFNIN
DQSLIYTLTC RFEGLLRPYI EYPSYNEQNG TPIVICPVTQ ESEKEASWQR ASAIPETSNS
ESSSQATTPF LPRGEM*
mutated AA sequence MHGLFDVEIS LTVQENAGSI SCSMRHAHLS REVESRVQIG DTFFEPISWH LATKVLGILC
CGLFFGIVGL KIFFSKFQWK IQAELDWRRK HGQAELRDAR KHAVEVTLDP ETAHPKLCVS
DLKTVTDRKA PQEVPHSEKR FTRKSVVASQ SFQAGKHYWE VDGGHNKRWR VGVCRDDVDR
RKEYVTLSPD HGYWVLRLNG EHLYFTLNPR FISVFPRTPP TKIGVFLDYE CGTISFFNIN
DQSLIYTLTC RFEGLLRPYI EYPSYNEQNG TPIVICPVTQ ESEKEASWQR ASAIPETSNS
ESSSQATTPF LPRGEM*
speed 1.34 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