Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999999999362 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM980011)
  • known disease mutation: rs3829 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:121177159C>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.1135C>T
cDNA.1160C>T
g.13622C>T
AA changes R379C Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 379
frameshift no
known variant Reference ID: rs28940872
databasehomozygous (T/T)heterozygousallele carriers
1000G011
ExAC01616

known disease mutation: rs3829 (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 CM980011)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980011)
known disease mutation at this position, please check HGMD for details (HGMD ID CM980011)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.9721
2.6381
(flanking)5.5581
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 61
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      379YVTEMPAERHYRDARITEIYEGTS
mutated  not conserved    379YVTEMPAERHYCDARITEIYEGT
Ptroglodytes  all identical  ENSPTRG00000005547  383YVTEMPAERHYRDARITEIYEGT
Mmulatta  all identical  ENSMMUG00000020648  383YVTEMPAERHYRDARITEIYEGT
Fcatus  all identical  ENSFCAG00000002402  313YVTEMPAERHYRDARITEIYEGT
Mmusculus  all identical  ENSMUSG00000029545  383YVTEMPAERYYRDARITEIYEGT
Ggallus  all identical  ENSGALG00000007072  387YVTEMPAERHYRDARITEIYEGT
Trubripes  all identical  ENSTRUG00000018610  383YVSDMPAERHYRDARITEIYEGT
Drerio  all identical  ENSDARG00000030781  395ERHYRDARITEIYEGT
Dmelanogaster  all identical  FBgn0038742  376YVTDMAAERHYRDARITEIYEGT
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000012275  380YVSDMPAERHYRDARITEIYEGT
protein features
start (aa)end (aa)featuredetails 
378388HELIXlost
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 1135
cDNA position
(for ins/del: last normal base / first normal base)		 1160
gDNA position
(for ins/del: last normal base / first normal base)		 13622
chromosomal position
(for ins/del: last normal base / first normal base)		 121177159
original gDNA sequence snippet TGCCGGCAGAGCGGCACTACCGCGACGCCCGCATCACTGAG
altered gDNA sequence snippet TGCCGGCAGAGCGGCACTACTGCGACGCCCGCATCACTGAG
original cDNA sequence snippet TGCCGGCAGAGCGGCACTACCGCGACGCCCGCATCACTGAG
altered cDNA sequence snippet TGCCGGCAGAGCGGCACTACTGCGACGCCCGCATCACTGAG
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 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 EMPAERHYCD ARITEIYEGT SEIQRLVIAG HLLRSYRS*
speed 0.83 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