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mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 0.999999999860697 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM030410)
  • known disease mutation at this position (HGMD CM031138)
  • known disease mutation: rs12147 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:66298444T>CN/A show variant in all transcripts   IGV
HGNC symbol ZDHHC24
Ensembl transcript ID ENST00000526986
Genbank transcript ID N/A
UniProt peptide Q6UX98
alteration type single base exchange
alteration region intron
DNA changes g.15266A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121917778
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC022

known disease mutation: rs12147 (pathogenic for Retinal dystrophy|Bardet-Biedl syndrome 1|Bardet-Biedl syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM030410)

known disease mutation at this position, please check HGMD for details (HGMD ID CM030410)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031138)

known disease mutation at this position, please check HGMD for details (HGMD ID CM030410)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031138)
known disease mutation at this position, please check HGMD for details (HGMD ID CM030410)

known disease mutation at this position, please check HGMD for details (HGMD ID CM030410)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031138)
known disease mutation at this position, please check HGMD for details (HGMD ID CM030410)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031138)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0550.951
1.6370.938
(flanking)0.8370.765
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained152650.52mu: CAGACCGGCAGCCCC GACC|ggca
distance from splice site 1485
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
140222COMPBIASLeu-rich.might get lost (downstream of altered splice site)
167187TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
202222TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
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 233 / 233
chromosome 11
strand -1
last intron/exon boundary 1040
theoretical NMD boundary in CDS 757
length of CDS 786
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)		 15266
chromosomal position
(for ins/del: last normal base / first normal base)		 66298444
original gDNA sequence snippet CGTTGTACAGGAAGCAGACCAGCAGCCCCAGGACAGGACGG
altered gDNA sequence snippet CGTTGTACAGGAAGCAGACCGGCAGCCCCAGGACAGGACGG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MGQPWAAGST DGAPAQLPLV LTALWAAAVG LELAYVLVLG PGPPPLGPLA RALQLALAAF
QLLNLLGNVG LFLRSDPSIR GVMLAGRGLG QGWAYCYQCQ SQVPPRSGHC SACRVCILRR
DHHCRLLGRC VGFGNYRPFL CLLLHAAGVL LHVSVLLGPA LSALLRAHTP LHMAALLLLP
WLMLLTDNPC PATALTTTKR SPWCPRSILC MCLQQLSEHP RLPPAHLHRE VPSTPQAQCC
GNQPHAPSSL RNSDLQATCT S*
mutated AA sequence N/A
speed 1.00 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