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mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999840301      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM980007)
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:121174852G>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.274G>T
cDNA.299G>T
g.11315G>T
AA changes G92C Score: 159 explain score(s)
position(s) of altered AA
if AA alteration in CDS
92
frameshift no
known variant Reference ID: rs121908004
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM980007)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980007)
known disease mutation at this position, please check HGMD for details (HGMD ID CM980007)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.5020.128
4.0810.997
(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 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      92AMDVPEELGGAGLDYLAYAIAMEE
mutated  not conserved    92AMDVPEELGGACLDYLAYAIAME
Ptroglodytes  all identical  ENSPTRG00000005547  92AMDVPEELGGAGLDYLAYAIAME
Mmulatta  all identical  ENSMMUG00000020648  92AMDVPEELGGAGLDYLAYAIAME
Fcatus  all identical  ENSFCAG00000002402  22AMDVPEELNGAGLDYLAYAIAME
Mmusculus  all identical  ENSMUSG00000029545  92AMDVPEELSGAGLDYLAYSIALE
Ggallus  all identical  ENSGALG00000007072  96AVEVPEQFKGAGLDYLAYSIAVE
Trubripes  all identical  ENSTRUG00000018610  92AMEVPEELGGAGMDYLAYSVAME
Drerio  all identical  ENSDARG00000030781  104EVPESLGGAGMDYLAYCLAVE
Dmelanogaster  all identical  FBgn0038742  85AVAIPEELGGTGLDYVAYAIAME
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000012275  89AVEVPEELGGAGLDYLAYSIAVE
protein features no protein features affected
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 274
cDNA position
(for ins/del: last normal base / first normal base)
299
gDNA position
(for ins/del: last normal base / first normal base)
11315
chromosomal position
(for ins/del: last normal base / first normal base)
121174852
original gDNA sequence snippet CCGAGGAGCTTGGCGGTGCTGGCCTCGATTACCTGGCCTAC
altered gDNA sequence snippet CCGAGGAGCTTGGCGGTGCTTGCCTCGATTACCTGGCCTAC
original cDNA sequence snippet CCGAGGAGCTTGGCGGTGCTGGCCTCGATTACCTGGCCTAC
altered cDNA sequence snippet CCGAGGAGCTTGGCGGTGCTTGCCTCGATTACCTGGCCTAC
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 ACLDYLAYAI 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*
speed 0.49 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