Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999994288      (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 ENST00000537443
Genbank transcript ID N/A
UniProt peptide Q15392
alteration type single base exchange
alteration region CDS
DNA changes c.67G>A
cDNA.132G>A
g.12085G>A
AA changes E23K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 23
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      23YGLFQHICTAYELVLADGSFVRCT
mutated  all conserved    23YGLFQHICTAYKLVLADGSFVRC
Ptroglodytes  all identical  ENSPTRG00000000779  191YGLFQHICTAYELVLADGSFVRC
Mmulatta  all identical  ENSMMUG00000021577  191YGLFQHICTAYELVLADGSFVRC
Fcatus  all identical  ENSFCAG00000003989  114YGLFQHICTAYELVLADGSFVRC
Mmusculus  all identical  ENSMUSG00000034926  191YGLFQHICTAYELILADGSFVRC
Ggallus  all identical  ENSGALG00000010798  191YGLFQHTCMAYELVLADGSLVRC
Trubripes  all identical  ENSTRUG00000016297  194YGLFQHICVAYELVLADGSLVRC
Drerio  all identical  ENSDARG00000013236  191YGLFQHICVAFELVLADGSLVRC
Dmelanogaster  no homologue    
Celegans  all identical  F52H2.6  187YGMFQHICTGYEVVMSDGELKNV
Xtropicalis  all identical  ENSXETG00000020010  191FGLFQHICLAYELVLADGSLVRC
protein features
start (aa)end (aa)featuredetails 
122SIGNALPotential.might get lost (downstream of altered splice site)
2331TOPO_DOMLumenal (Potential).lost
3252TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
53516TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
58234DOMAINFAD-binding PCMH-type.might get lost (downstream of altered splice site)
110110MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
122123SITECleavage; by caspase (Potential).might get lost (downstream of altered splice site)
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 903 / 903
position (AA) of stopcodon in wt / mu AA sequence 301 / 301
position of stopcodon in wt / mu cDNA 968 / 968
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 66 / 66
chromosome 1
strand -1
last intron/exon boundary 815
theoretical NMD boundary in CDS 699
length of CDS 903
coding sequence (CDS) position 67
cDNA position
(for ins/del: last normal base / first normal base)		 132
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 MGTGIESSSH KYGLFQHICT AYELVLADGS FVRCTPSENS DLFYAVPWSC GTLGFLVAAE
IRIIPAKKYV KLRFEPVRGL EAICAKFTHE SQRQENHFVE GLLYSLDEAV IMTGVMTDEA
EPSKDIIPFG NNPIFRYLFG WMVPPKISLL KLTQGETLRK LYEQHHVVQD MLVPMKCLQQ
ALHTFQNDIH VYPIWLCPFI LPSQPGLVHP KGNEAELYID IGAYGEPRVK HFEARSCMRQ
LEKFVRSVHG FQMLYADCYM NREEFWEMFD GSLYHKLREK LGCQDAFPEV YDKICKAARH
*
mutated AA sequence MGTGIESSSH KYGLFQHICT AYKLVLADGS FVRCTPSENS DLFYAVPWSC GTLGFLVAAE
IRIIPAKKYV KLRFEPVRGL EAICAKFTHE SQRQENHFVE GLLYSLDEAV IMTGVMTDEA
EPSKDIIPFG NNPIFRYLFG WMVPPKISLL KLTQGETLRK LYEQHHVVQD MLVPMKCLQQ
ALHTFQNDIH VYPIWLCPFI LPSQPGLVHP KGNEAELYID IGAYGEPRVK HFEARSCMRQ
LEKFVRSVHG FQMLYADCYM NREEFWEMFD GSLYHKLREK LGCQDAFPEV YDKICKAARH
*
speed 1.23 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