Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999971865 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • heterozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM122638)
  • known disease mutation at this position (HGMD CM900002)
  • known disease mutation: rs3826 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:121174897C>TN/A show variant in all transcripts   IGV
HGNC symbol ACADS
Ensembl transcript ID ENST00000411593
Genbank transcript ID N/A
UniProt peptide P16219
alteration type single base exchange
alteration region CDS
DNA changes c.319C>T
cDNA.344C>T
g.11360C>T
AA changes R107C Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 107
frameshift no
known variant Reference ID: rs61732144
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC17475

known disease mutation: rs3826 (pathogenic for Deficiency of butyryl-CoA dehydrogenase|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM900002)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900002)
known disease mutation at this position, please check HGMD for details (HGMD ID CM122638)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900002)
known disease mutation at this position, please check HGMD for details (HGMD ID CM122638)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900002)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.0821
1.4441
(flanking)5.6951
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 42
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      107LAYAIAMEEISRGCASTGVIMSVN
mutated  not conserved    107LAYAIAMEEISCGCASTGVIMSV
Ptroglodytes  all identical  ENSPTRG00000005547  107LAYAIAMEEISRGCASTGVIMSV
Mmulatta  all identical  ENSMMUG00000020648  107LAYAIAMEEISRGCASTGVIMSV
Fcatus  all identical  ENSFCAG00000002402  37LAYAIAMEEISRGCASTGVIMSV
Mmusculus  all identical  ENSMUSG00000029545  107LAYSIALEEISRACASTGVIMSV
Ggallus  all identical  ENSGALG00000007072  111LAYSIAVEEISRGCASTGVIASV
Trubripes  all identical  ENSTRUG00000018610  107LAYSVAMEEISRGCASTGVVVSV
Drerio  all identical  ENSDARG00000030781  119LAYCLAVEELSRGCASTGVIVSV
Dmelanogaster  all identical  FBgn0038742  100VAYAIAMEEISRGCASAGVIMSV
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000012275  104LAYSIAVEEISRGCASTGVIMSV
protein features
start (aa)end (aa)featuredetails 
95108HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1227 / 1227
position (AA) of stopcodon in wt / mu AA sequence 409 / 409
position of stopcodon in wt / mu cDNA 1252 / 1252
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 26 / 26
chromosome 12
strand 1
last intron/exon boundary 1100
theoretical NMD boundary in CDS 1024
length of CDS 1227
coding sequence (CDS) position 319
cDNA position
(for ins/del: last normal base / first normal base)		 344
gDNA position
(for ins/del: last normal base / first normal base)		 11360
chromosomal position
(for ins/del: last normal base / first normal base)		 121174897
original gDNA sequence snippet TCGCCATGGAGGAGATCAGCCGTGGCTGCGCCTCCACCGGA
altered gDNA sequence snippet TCGCCATGGAGGAGATCAGCTGTGGCTGCGCCTCCACCGGA
original cDNA sequence snippet TCGCCATGGAGGAGATCAGCCGTGGCTGCGCCTCCACCGGA
altered cDNA sequence snippet TCGCCATGGAGGAGATCAGCTGTGGCTGCGCCTCCACCGGA
wildtype AA sequence MAAALLARAS GPARRALCPR AWRQLHTIYQ SVELPETHQM LLQTCRDFAE KELFPIAAQV
DKEHLFPAAQ VKKMGGLGLL AMDVPEELGG AGLDYLAYAI AMEEISRGCA STGVIMSVNN
SLYLGPILKF GSKEQKQAWV TPFTSGDKIG CFALSEPGPS LLGPTGPIFA LGQVGCPCPS
SAATEACTFP RSRQRVSRPE LLREGISAFL VPMPTPGLTL GKKEDKLGIR GSSTANLIFE
DCRIPKDSIL GEPGMGFKIA MQTLDMGRIG IASQALGIAQ TALDCAVNYA ENRMAFGAPL
TKLQVIQFKL ADMALALESA RLLTWRAAML KDNKKPFIKE AAMAKLAASE AATAISHQAI
QILGGMGYVT EMPAERHYRD ARITEIYEGT SEIQRLVIAG HLLRSYRS*
mutated AA sequence MAAALLARAS GPARRALCPR AWRQLHTIYQ SVELPETHQM LLQTCRDFAE KELFPIAAQV
DKEHLFPAAQ VKKMGGLGLL AMDVPEELGG AGLDYLAYAI AMEEISCGCA STGVIMSVNN
SLYLGPILKF GSKEQKQAWV TPFTSGDKIG CFALSEPGPS LLGPTGPIFA LGQVGCPCPS
SAATEACTFP RSRQRVSRPE LLREGISAFL VPMPTPGLTL GKKEDKLGIR GSSTANLIFE
DCRIPKDSIL GEPGMGFKIA MQTLDMGRIG IASQALGIAQ TALDCAVNYA ENRMAFGAPL
TKLQVIQFKL ADMALALESA RLLTWRAAML KDNKKPFIKE AAMAKLAASE AATAISHQAI
QILGGMGYVT EMPAERHYRD ARITEIYEGT SEIQRLVIAG HLLRSYRS*
speed 1.02 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