Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999965872585      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM023768)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:160803732C>TN/A show variant in all transcripts   IGV
HGNC symbol B3GALNT1
Ensembl transcript ID ENST00000392781
Genbank transcript ID NM_001038628
UniProt peptide O75752
alteration type single base exchange
alteration region CDS
DNA changes c.811G>A
cDNA.1559G>A
g.19441G>A
AA changes G271R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 271
frameshift no
known variant Reference ID: rs104893683
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC033

known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)

known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)
known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.0281
6.0281
(flanking)-0.3550.921
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained194370.94mu: GTTTATGTCAGGATC TTAT|gtca
distance from splice site 845
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      271VKPIKFEDVYVGICLNLLKVNIHI
mutated  not conserved    271VKPIKFEDVYVRICLNLLKVNIH
Ptroglodytes  all identical  ENSPTRG00000040051  271VKPIKFEDVYVGICLNLLKVNIH
Mmulatta  all identical  ENSMMUG00000003541  271VKPIKFEDVYVGICLNLLKVNIH
Fcatus  all identical  ENSFCAG00000013235  271VKPIKFEDVYVGICLNLLNVDIH
Mmusculus  all identical  ENSMUSG00000043300  271VKPIKFEDVYVGICLNLLKVDIH
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0050037  335TRIVHLEDMFVTGLC
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
44331TOPO_DOMLumenal (Potential).lost
326326CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
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 1744 / 1744
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 749 / 749
chromosome 3
strand -1
last intron/exon boundary 715
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 811
cDNA position
(for ins/del: last normal base / first normal base)		 1559
gDNA position
(for ins/del: last normal base / first normal base)		 19441
chromosomal position
(for ins/del: last normal base / first normal base)		 160803732
original gDNA sequence snippet AGTTTGAAGATGTTTATGTCGGGATCTGTTTGAATTTATTA
altered gDNA sequence snippet AGTTTGAAGATGTTTATGTCAGGATCTGTTTGAATTTATTA
original cDNA sequence snippet AGTTTGAAGATGTTTATGTCGGGATCTGTTTGAATTTATTA
altered cDNA sequence snippet AGTTTGAAGATGTTTATGTCAGGATCTGTTTGAATTTATTA
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 KPIKFEDVYV RICLNLLKVN IHIPEDTNLF FLYRIHLDVC
QLRRVIAAHG FSSKEIITFW QVMLRNTTCH Y*
speed 0.89 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