Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM970576)
  • known disease mutation: rs710 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:88909153A>CN/A show variant in all transcripts   IGV
HGNC symbol GALNS
Ensembl transcript ID ENST00000542788
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.14226T>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs118204445
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs710 (pathogenic for Mucopolysaccharidosis, MPS-IV-A) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM970576)

known disease mutation at this position, please check HGMD for details (HGMD ID CM970576)
known disease mutation at this position, please check HGMD for details (HGMD ID CM970576)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.8061
1.2040.85
(flanking)-1.9240.153
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 1651
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 1 / 1
chromosome 16
strand -1
last intron/exon boundary 1258
theoretical NMD boundary in CDS 1207
length of CDS 1344
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 14226
chromosomal position
(for ins/del: last normal base / first normal base)		 88909153
original gDNA sequence snippet TGGCTGCAGAAGGGCTGCTTTTCCCAAACTTCTATTCTGCC
altered gDNA sequence snippet TGGCTGCAGAAGGGCTGCTTGTCCCAAACTTCTATTCTGCC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MAAVVAATRW WQLLLVLSAA GMGASGAPGQ RAYTPQEIVG GIPDSEQLLP ELLKKAGYVS
KIVGKWHLGH RPQFHPLKHG FDEWFGSPNC HFGPYDNKAR PNIPVYRDWE MVGRYYEEFP
INLKTGEANL TQIYLQEALD FIKRQARHHP FFLYWAVDAT HAPVYASKPF LGTSQRGRYG
DAVREIDDSI GKILELLQDL HVADNTFVFF TSDNGAALIS APEQGGSNGP FLCGKQTTFE
GGMREPALAW WPGHVTAGQV SHQLGSIMDL FTTSLALAGL TPPSDRAIDG LNLLPTLLQG
RLMDRPIFYY RGDTLMAATL GQHKAHFWTW TNSWENFRQG IDFCPGQNVS GVTTHNLEDH
TKLPLIFHLG RDPGERFPLS FASAEYQEAL SRITSVVQQH QEALVPAQPQ LNVCNWAVMN
WAPPGCEKLG KCLTPPESIP KKCLWSH*
mutated AA sequence N/A
speed 0.73 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