Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999709764 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM002971)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:5831672G>CN/A show variant in all transcripts   IGV
HGNC symbol FUT6
Ensembl transcript ID ENST00000527106
Genbank transcript ID N/A
UniProt peptide P51993
alteration type single base exchange
alteration region CDS
DNA changes c.907C>G
cDNA.1176C>G
g.8071C>G
AA changes R303G Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 303
frameshift no
known variant Reference ID: rs61147939
databasehomozygous (C/C)heterozygousallele carriers
1000G164617781
ExAC22351229014525

known disease mutation at this position, please check HGMD for details (HGMD ID CM002971)

known disease mutation at this position, please check HGMD for details (HGMD ID CM002971)
known disease mutation at this position, please check HGMD for details (HGMD ID CM002971)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.880.083
1.6150.113
(flanking)-1.0240.106
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained80670.95mu: GACCTGGCCGGGTAC CCTG|gccg
distance from splice site 919
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      303VDDFQSPKDLARYLQELDKDHARY
mutated  not conserved    303LAGYLQELDKDHAR
Ptroglodytes  all identical  ENSPTRG00000010345  303LARYLQELDKDHAR
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  all conserved  ENSGALG00000001806  306VDDFASAGELAQYLQELSRDTEK
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000027088  291VDDFPTAKGLADYLHAL
protein features
start (aa)end (aa)featuredetails 
35359TOPO_DOMLumenal (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1080 / 1080
position (AA) of stopcodon in wt / mu AA sequence 360 / 360
position of stopcodon in wt / mu cDNA 1349 / 1349
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 270 / 270
chromosome 19
strand -1
last intron/exon boundary 258
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1080
coding sequence (CDS) position 907
cDNA position
(for ins/del: last normal base / first normal base)		 1176
gDNA position
(for ins/del: last normal base / first normal base)		 8071
chromosomal position
(for ins/del: last normal base / first normal base)		 5831672
original gDNA sequence snippet AGAGCCCCAAGGACCTGGCCCGGTACCTGCAGGAGCTGGAC
altered gDNA sequence snippet AGAGCCCCAAGGACCTGGCCGGGTACCTGCAGGAGCTGGAC
original cDNA sequence snippet AGAGCCCCAAGGACCTGGCCCGGTACCTGCAGGAGCTGGAC
altered cDNA sequence snippet AGAGCCCCAAGGACCTGGCCGGGTACCTGCAGGAGCTGGAC
wildtype AA sequence MDPLGPAKPQ WSWRCCLTTL LFQLLMAVCF FSYLRVSQDD PTVYPNGSRF PDSTGTPAHS
IPLILLWTWP FNKPIALPRC SEMVPGTADC NITADRKVYP QADAVIVHHR EVMYNPSAQL
PRSPRRQGQR WIWFSMESPS HCWQLKAMDG YFNLTMSYRS DSDIFTPYGW LEPWSGQPAH
PPLNLSAKTE LVAWAVSNWG PNSARVRYYQ SLQAHLKVDV YGRSHKPLPQ GTMMETLSRY
KFYLAFENSL HPDYITEKLW RNALEAWAVP VVLGPSRSNY ERFLPPDAFI HVDDFQSPKD
LARYLQELDK DHARYLSYFR WRETLRPRSF SWALAFCKAC WKLQEESRYQ TRGIAAWFT*
mutated AA sequence MDPLGPAKPQ WSWRCCLTTL LFQLLMAVCF FSYLRVSQDD PTVYPNGSRF PDSTGTPAHS
IPLILLWTWP FNKPIALPRC SEMVPGTADC NITADRKVYP QADAVIVHHR EVMYNPSAQL
PRSPRRQGQR WIWFSMESPS HCWQLKAMDG YFNLTMSYRS DSDIFTPYGW LEPWSGQPAH
PPLNLSAKTE LVAWAVSNWG PNSARVRYYQ SLQAHLKVDV YGRSHKPLPQ GTMMETLSRY
KFYLAFENSL HPDYITEKLW RNALEAWAVP VVLGPSRSNY ERFLPPDAFI HVDDFQSPKD
LAGYLQELDK DHARYLSYFR WRETLRPRSF SWALAFCKAC WKLQEESRYQ TRGIAAWFT*
speed 1.21 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