Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999998231357593      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM023767)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:160803746T>GN/A show variant in all transcripts   IGV
HGNC symbol B3GALNT1
Ensembl transcript ID ENST00000488170
Genbank transcript ID N/A
UniProt peptide O75752
alteration type single base exchange
alteration region CDS
DNA changes c.797A>C
cDNA.1461A>C
g.19427A>C
AA changes E266A Score: 107 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 266
frameshift no
known variant Reference ID: rs28937582
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM023767)

known disease mutation at this position, please check HGMD for details (HGMD ID CM023767)
known disease mutation at this position, please check HGMD for details (HGMD ID CM023767)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.8541
4.981
(flanking)6.0281
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased19426wt: 0.4524 / mu: 0.5442 (marginal change - not scored)wt: AGTTTGAAGATGTTT
mu: AGTTTGCAGATGTTT		 TTTG|aaga
distance from splice site 200
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      266EMMGHVKPIKFEDVYVGICLNLLK
mutated  not conserved    266EMMGHVKPIKFADVYVGICLNLL
Ptroglodytes  all identical  ENSPTRG00000040051  266EMMGHVKPIKFEDVYVGICLNLL
Mmulatta  all identical  ENSMMUG00000003541  266EMMGHVKPIKFEDVYVGICLNLL
Fcatus  all identical  ENSFCAG00000013235  266EMMSHVKPIKFEDVYVGICLNLL
Mmusculus  all identical  ENSMUSG00000043300  266EMMSHVKPIKFEDVYVGICLNLL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0050037  330KASLGTRIVHLEDMFVTGLC
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
44331TOPO_DOMLumenal (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 996 / 996
position (AA) of stopcodon in wt / mu AA sequence 332 / 332
position of stopcodon in wt / mu cDNA 1660 / 1660
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 665 / 665
chromosome 3
strand -1
last intron/exon boundary 631
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 996
coding sequence (CDS) position 797
cDNA position
(for ins/del: last normal base / first normal base)		 1461
gDNA position
(for ins/del: last normal base / first normal base)		 19427
chromosomal position
(for ins/del: last normal base / first normal base)		 160803746
original gDNA sequence snippet CGTAAAACCCATCAAGTTTGAAGATGTTTATGTCGGGATCT
altered gDNA sequence snippet CGTAAAACCCATCAAGTTTGCAGATGTTTATGTCGGGATCT
original cDNA sequence snippet CGTAAAACCCATCAAGTTTGAAGATGTTTATGTCGGGATCT
altered cDNA sequence snippet CGTAAAACCCATCAAGTTTGCAGATGTTTATGTCGGGATCT
wildtype AA sequence MASALWTVLP SRMSLRSLKW SLLLLSLLSF FVMWYLSLPH YNVIERVNWM YFYEYEPIYR
QDFHFTLREH SNCSHQNPFL VILVTSHPSD VKARQAIRVT WGEKKSWWGY EVLTFFLLGQ
EAEKEDKMLA LSLEDEHLLY GDIIRQDFLD TYNNLTLKTI MAFRWVTEFC PNAKYVMKTD
TDVFINTGNL VKYLLNLNHS EKFFTGYPLI DNYSYRGFYQ KTHISYQEYP FKVFPPYCSG
LGYIMSRDLV PRIYEMMGHV KPIKFEDVYV GICLNLLKVN IHIPEDTNLF FLYRIHLDVC
QLRRVIAAHG FSSKEIITFW QVMLRNTTCH Y*
mutated AA sequence MASALWTVLP SRMSLRSLKW SLLLLSLLSF FVMWYLSLPH YNVIERVNWM YFYEYEPIYR
QDFHFTLREH SNCSHQNPFL VILVTSHPSD VKARQAIRVT WGEKKSWWGY EVLTFFLLGQ
EAEKEDKMLA LSLEDEHLLY GDIIRQDFLD TYNNLTLKTI MAFRWVTEFC PNAKYVMKTD
TDVFINTGNL VKYLLNLNHS EKFFTGYPLI DNYSYRGFYQ KTHISYQEYP FKVFPPYCSG
LGYIMSRDLV PRIYEMMGHV KPIKFADVYV GICLNLLKVN IHIPEDTNLF FLYRIHLDVC
QLRRVIAAHG FSSKEIITFW QVMLRNTTCH Y*
speed 1.42 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