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 ENST00000371269
Genbank transcript ID NM_014762
UniProt peptide Q15392
alteration type single base exchange
alteration region CDS
DNA changes c.571G>A
cDNA.670G>A
g.12085G>A
AA changes E191K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 191
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      191YGLFQHICTAYELVLADGSFVRCT
mutated  all conserved    191GLFQHICTAYKLVLADGSFVRC
Ptroglodytes  all identical  ENSPTRG00000000779  191GLFQHICTAYELVLADGSFVRC
Mmulatta  all identical  ENSMMUG00000021577  191GLFQHICTAYELVLADGSFVRC
Fcatus  all identical  ENSFCAG00000003989  114YGLFQHICTAYELVLADG
Mmusculus  all identical  ENSMUSG00000034926  191GLFQHICTAYELILADGSFVRC
Ggallus  all identical  ENSGALG00000010798  191GLFQHTCMAYELVLADGSLVRC
Trubripes  all identical  ENSTRUG00000016297  194GLFQHICVAYELVLADGSLVRC
Drerio  all identical  ENSDARG00000013236  191GLFQHICVAFELVLADGSLVRC
Dmelanogaster  no homologue    
Celegans  all identical  F52H2.6  187YGMFQHICTGYEVVMSDGEL
Xtropicalis  all identical  ENSXETG00000020010  191GLFQHICLAYELVLADGSLVRC
protein features
start (aa)end (aa)featuredetails 
53516TOPO_DOMCytoplasmic (Potential).lost
58234DOMAINFAD-binding PCMH-type.lost
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 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 571
cDNA position
(for ins/del: last normal base / first normal base)		 670
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 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 KLVLADGSFV 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*
speed 0.80 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