Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999999999656      (explain)
Summary
  • amino acid sequence changed
  • known as potential disease variant: rs4369 (probable pathogenic)
  • known disease mutation at this position (HGMD CM014564)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:55340807C>TN/A show variant in all transcripts   IGV
HGNC symbol DHCR24
Ensembl transcript ID ENST00000535035
Genbank transcript ID N/A
UniProt peptide Q15392
alteration type single base exchange
alteration region CDS
DNA changes c.448G>A
cDNA.531G>A
g.12085G>A
AA changes E150K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 150
frameshift no
known variant Reference ID: rs119475041
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known as potential disease variant: rs4369 (probable pathogenic for Desmosterolosis) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM014564)

known disease mutation at this position, please check HGMD for details (HGMD ID CM014564)
known disease mutation at this position, please check HGMD for details (HGMD ID CM014564)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
PolII, Polymerase, RNA Polymerase II
phyloP / phastCons
PhyloPPhastCons
(flanking)5.1231
6.2051
(flanking)-0.8660.462
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained120810.93mu: ACTGCTTACAAGCTG TGCT|taca
distance from splice site 42
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      150YGLFQHICTAYELVLADGSFVRCT
mutated  all conserved    150YGLFQHICTAYKLVLADGSFVRC
Ptroglodytes  all identical  ENSPTRG00000000779  191YGLFQHICTAYELVLAD
Mmulatta  all identical  ENSMMUG00000021577  191YGLFQHICTAYELVLAD
Fcatus  all identical  ENSFCAG00000003989  114YGLFQHICTAYELVLADG
Mmusculus  all identical  ENSMUSG00000034926  191YGLFQHICTAYELILAD
Ggallus  all identical  ENSGALG00000010798  191YGLFQHTCMAYELVLAD
Trubripes  all identical  ENSTRUG00000016297  194YGLFQHICVAYELVLAD
Drerio  all identical  ENSDARG00000013236  191YGLFQHICVAFELVLAD
Dmelanogaster  no homologue    
Celegans  all identical  F52H2.6  187YGMFQHICTGYEVVMS
Xtropicalis  all identical  ENSXETG00000020010  191FGLFQHICLAYELVLAD
protein features
start (aa)end (aa)featuredetails 
53516TOPO_DOMCytoplasmic (Potential).lost
58234DOMAINFAD-binding PCMH-type.lost
163175NP_BINDFAD (Potential).might get lost (downstream of altered splice site)
383384SITECleavage; by caspase (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1428 / 1428
position (AA) of stopcodon in wt / mu AA sequence 476 / 476
position of stopcodon in wt / mu cDNA 1511 / 1511
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 84 / 84
chromosome 1
strand -1
last intron/exon boundary 1358
theoretical NMD boundary in CDS 1224
length of CDS 1428
coding sequence (CDS) position 448
cDNA position
(for ins/del: last normal base / first normal base)		 531
gDNA position
(for ins/del: last normal base / first normal base)		 12085
chromosomal position
(for ins/del: last normal base / first normal base)		 55340807
original gDNA sequence snippet AACACATCTGCACTGCTTACGAGCTGGTCCTGGCTGATGGC
altered gDNA sequence snippet AACACATCTGCACTGCTTACAAGCTGGTCCTGGCTGATGGC
original cDNA sequence snippet AACACATCTGCACTGCTTACGAGCTGGTCCTGGCTGATGGC
altered cDNA sequence snippet AACACATCTGCACTGCTTACAAGCTGGTCCTGGCTGATGGC
wildtype AA sequence MGAGEQNRQS AHCVQGICGY LEGDEEGEEG EVRSTQVREW KEQGSKTFMC TGRPGWLTVS
LRVGKYKKTH KNIMINLMDI LEVDTKKQIV RVEPLVTMGQ VTALLTSIGW TLPVLPELDD
LTVGGLIMGT GIESSSHKYG LFQHICTAYE LVLADGSFVR CTPSENSDLF YAVPWSCGTL
GFLVAAEIRI IPAKKYVKLR FEPVRGLEAI CAKFTHESQR QENHFVEGLL YSLDEAVIMT
GVMTDEAEPS KLNSIGNYYK PWFFKHVENY LKTNREGLEY IPLRHYYHRH TRSIFWELQD
IIPFGNNPIF RYLFGWMVPP KISLLKLTQG ETLRKLYEQH HVVQDMLVPM KCLQQALHTF
QNDIHVYPIW LCPFILPSQP GLVHPKGNEA ELYIDIGAYG EPRVKHFEAR SCMRQLEKFV
RSVHGFQMLY ADCYMNREEF WEMFDGSLYH KLREKLGCQD AFPEVYDKIC KAARH*
mutated AA sequence MGAGEQNRQS AHCVQGICGY LEGDEEGEEG EVRSTQVREW KEQGSKTFMC TGRPGWLTVS
LRVGKYKKTH KNIMINLMDI LEVDTKKQIV RVEPLVTMGQ VTALLTSIGW TLPVLPELDD
LTVGGLIMGT GIESSSHKYG LFQHICTAYK LVLADGSFVR CTPSENSDLF YAVPWSCGTL
GFLVAAEIRI IPAKKYVKLR FEPVRGLEAI CAKFTHESQR QENHFVEGLL YSLDEAVIMT
GVMTDEAEPS KLNSIGNYYK PWFFKHVENY LKTNREGLEY IPLRHYYHRH TRSIFWELQD
IIPFGNNPIF RYLFGWMVPP KISLLKLTQG ETLRKLYEQH HVVQDMLVPM KCLQQALHTF
QNDIHVYPIW LCPFILPSQP GLVHPKGNEA ELYIDIGAYG EPRVKHFEAR SCMRQLEKFV
RSVHGFQMLY ADCYMNREEF WEMFDGSLYH KLREKLGCQD AFPEVYDKIC KAARH*
speed 0.46 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