Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999926684 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM014567)
  • known disease mutation: rs4367 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:55318045T>GN/A show variant in all transcripts   IGV
HGNC symbol DHCR24
Ensembl transcript ID ENST00000371269
Genbank transcript ID NM_014762
UniProt peptide Q15392
alteration type single base exchange
alteration region CDS
DNA changes c.1412A>C
cDNA.1511A>C
g.34847A>C
AA changes Y471S Score: 144 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 471
frameshift no
known variant Reference ID: rs28939092
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs4367 (pathogenic for Desmosterolosis) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM014567)

known disease mutation at this position, please check HGMD for details (HGMD ID CM014567)
known disease mutation at this position, please check HGMD for details (HGMD ID CM014567)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4220.923
5.0071
(flanking)5.0071
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased34839wt: 0.70 / mu: 0.77wt: CTCTGCCTCTGCAGCTTCCAGATGCTGTATGCCGACTGCTA
mu: CTCTGCCTCTGCAGCTTCCAGATGCTGTCTGCCGACTGCTA		 ccag|ATGC
Acc increased34838wt: 0.71 / mu: 0.82wt: TCTCTGCCTCTGCAGCTTCCAGATGCTGTATGCCGACTGCT
mu: TCTCTGCCTCTGCAGCTTCCAGATGCTGTCTGCCGACTGCT		 tcca|GATG
Acc marginally increased34848wt: 0.6335 / mu: 0.6721 (marginal change - not scored)wt: TGCAGCTTCCAGATGCTGTATGCCGACTGCTACATGAACCG
mu: TGCAGCTTCCAGATGCTGTCTGCCGACTGCTACATGAACCG		 gtat|GCCG
Acc gained348520.43mu: GCTTCCAGATGCTGTCTGCCGACTGCTACATGAACCGGGAG gccg|ACTG
distance from splice site 15
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      471FVRSVHGFQMLYADCYMNREEFWE
mutated  not conserved    471FVRSVHGFQMLSADCYMNREE
Ptroglodytes  all identical  ENSPTRG00000000779  471FVRSVHGFQMLYADCYMNREE
Mmulatta  all identical  ENSMMUG00000021577  471FVRSVHGFQMLYADCYMNREE
Fcatus  all identical  ENSFCAG00000003989  394FVRSVHGFQMLYADCYMSREEFW
Mmusculus  all identical  ENSMUSG00000034926  471FVRSVHGFQMLYADCYMNREE
Ggallus  all identical  ENSGALG00000010798  471FVRSVHGFQMLYADCYMTREE
Trubripes  all identical  ENSTRUG00000016297  474FVRDVHGFQMLYADVYMNREE
Drerio  all identical  ENSDARG00000013236  471FVRDVHGFQMLYADVYMERKE
Dmelanogaster  no homologue    
Celegans  all identical  F52H2.6  480FVRSVNGFQMTYADIYMTRAEYA
Xtropicalis  all identical  ENSXETG00000020010  471FVRDVHGFQMLYADCYMSREE
protein features
start (aa)end (aa)featuredetails 
53516TOPO_DOMCytoplasmic (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1551 / 1551
position (AA) of stopcodon in wt / mu AA sequence 517 / 517
position of stopcodon in wt / mu cDNA 1650 / 1650
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 100 / 100
chromosome 1
strand -1
last intron/exon boundary 1497
theoretical NMD boundary in CDS 1347
length of CDS 1551
coding sequence (CDS) position 1412
cDNA position
(for ins/del: last normal base / first normal base)		 1511
gDNA position
(for ins/del: last normal base / first normal base)		 34847
chromosomal position
(for ins/del: last normal base / first normal base)		 55318045
original gDNA sequence snippet CTGCAGCTTCCAGATGCTGTATGCCGACTGCTACATGAACC
altered gDNA sequence snippet CTGCAGCTTCCAGATGCTGTCTGCCGACTGCTACATGAACC
original cDNA sequence snippet GCATGGCTTCCAGATGCTGTATGCCGACTGCTACATGAACC
altered cDNA sequence snippet GCATGGCTTCCAGATGCTGTCTGCCGACTGCTACATGAACC
wildtype AA sequence MEPAVSLAVC ALLFLLWVRL KGLEFVLIHQ RWVFVCLFLL PLSLIFDIYY YVRAWVVFKL
SSAPRLHEQR VRDIQKQVRE WKEQGSKTFM CTGRPGWLTV SLRVGKYKKT HKNIMINLMD
ILEVDTKKQI VRVEPLVTMG QVTALLTSIG WTLPVLPELD DLTVGGLIMG TGIESSSHKY
GLFQHICTAY ELVLADGSFV RCTPSENSDL FYAVPWSCGT LGFLVAAEIR IIPAKKYVKL
RFEPVRGLEA ICAKFTHESQ RQENHFVEGL LYSLDEAVIM TGVMTDEAEP SKLNSIGNYY
KPWFFKHVEN YLKTNREGLE YIPLRHYYHR HTRSIFWELQ DIIPFGNNPI FRYLFGWMVP
PKISLLKLTQ GETLRKLYEQ HHVVQDMLVP MKCLQQALHT FQNDIHVYPI WLCPFILPSQ
PGLVHPKGNE AELYIDIGAY GEPRVKHFEA RSCMRQLEKF VRSVHGFQML YADCYMNREE
FWEMFDGSLY HKLREKLGCQ DAFPEVYDKI CKAARH*
mutated AA sequence MEPAVSLAVC ALLFLLWVRL KGLEFVLIHQ RWVFVCLFLL PLSLIFDIYY YVRAWVVFKL
SSAPRLHEQR VRDIQKQVRE WKEQGSKTFM CTGRPGWLTV SLRVGKYKKT HKNIMINLMD
ILEVDTKKQI VRVEPLVTMG QVTALLTSIG WTLPVLPELD DLTVGGLIMG TGIESSSHKY
GLFQHICTAY ELVLADGSFV RCTPSENSDL FYAVPWSCGT LGFLVAAEIR IIPAKKYVKL
RFEPVRGLEA ICAKFTHESQ RQENHFVEGL LYSLDEAVIM TGVMTDEAEP SKLNSIGNYY
KPWFFKHVEN YLKTNREGLE YIPLRHYYHR HTRSIFWELQ DIIPFGNNPI FRYLFGWMVP
PKISLLKLTQ GETLRKLYEQ HHVVQDMLVP MKCLQQALHT FQNDIHVYPI WLCPFILPSQ
PGLVHPKGNE AELYIDIGAY GEPRVKHFEA RSCMRQLEKF VRSVHGFQML SADCYMNREE
FWEMFDGSLY HKLREKLGCQ DAFPEVYDKI CKAARH*
speed 0.97 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