Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999918531 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012321)
  • known disease mutation: rs3599 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:76199288C>TN/A show variant in all transcripts   IGV
HGNC symbol ACADM
Ensembl transcript ID ENST00000370841
Genbank transcript ID NM_000016
UniProt peptide P11310
alteration type single base exchange
alteration region CDS
DNA changes c.362C>T
cDNA.799C>T
g.9253C>T
AA changes T121I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 121
frameshift no
known variant Reference ID: rs121434283
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs3599 (pathogenic for Medium-chain acyl-coenzyme A dehydrogenase deficiency|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012321)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012321)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012321)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.0341
6.0971
(flanking)-0.2580.952
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 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      121EELAYGCTGVQTAIEGNSLGQMPI
mutated  not conserved    121IAIEGNSLGQMP
Ptroglodytes  all identical  ENSPTRG00000000871  121TAIEGNSLGQMP
Mmulatta  all identical  ENSMMUG00000007220  145EELAYGCTGVQTAIEGNSLGQMP
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000062908  121TAIEANSLGQMP
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000007137  150EELAYGCTGVQTAIEANSLGQMP
Drerio  all identical  ENSDARG00000038900  126EELAYGCTGVQTAIEANSLGQMP
Dmelanogaster  all identical  FBgn0035811  117EELAYGCTGIMTALEASGLG
Celegans  not conserved  T08G2.3  111EALSYGCTGIQLGIMGPSLAIAP
Xtropicalis  all identical  ENSXETG00000002983  126EEIAYGCTGVQTAIE
protein features
start (aa)end (aa)featuredetails 
117129HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1266 / 1266
position (AA) of stopcodon in wt / mu AA sequence 422 / 422
position of stopcodon in wt / mu cDNA 1703 / 1703
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 438 / 438
chromosome 1
strand 1
last intron/exon boundary 1632
theoretical NMD boundary in CDS 1144
length of CDS 1266
coding sequence (CDS) position 362
cDNA position
(for ins/del: last normal base / first normal base)		 799
gDNA position
(for ins/del: last normal base / first normal base)		 9253
chromosomal position
(for ins/del: last normal base / first normal base)		 76199288
original gDNA sequence snippet TGGATGTACAGGGGTTCAGACTGCTATTGAAGGAAATTCTT
altered gDNA sequence snippet TGGATGTACAGGGGTTCAGATTGCTATTGAAGGAAATTCTT
original cDNA sequence snippet TGGATGTACAGGGGTTCAGACTGCTATTGAAGGAAATTCTT
altered cDNA sequence snippet TGGATGTACAGGGGTTCAGATTGCTATTGAAGGAAATTCTT
wildtype AA sequence MAAGFGRCCR VLRSISRFHW RSQHTKANRQ REPGLGFSFE FTEQQKEFQA TARKFAREEI
IPVAAEYDKT GEYPVPLIRR AWELGLMNTH IPENCGGLGL GTFDACLISE ELAYGCTGVQ
TAIEGNSLGQ MPIIIAGNDQ QKKKYLGRMT EEPLMCAYCV TEPGAGSDVA GIKTKAEKKG
DEYIINGQKM WITNGGKANW YFLLARSDPD PKAPANKAFT GFIVEADTPG IQIGRKELNM
GQRCSDTRGI VFEDVKVPKE NVLIGDGAGF KVAMGAFDKT RPVVAAGAVG LAQRALDEAT
KYALERKTFG KLLVEHQAIS FMLAEMAMKV ELARMSYQRA AWEVDSGRRN TYYASIAKAF
AGDIANQLAT DAVQILGGNG FNTEYPVEKL MRDAKIYQIY EGTSQIQRLI VAREHIDKYK
N*
mutated AA sequence MAAGFGRCCR VLRSISRFHW RSQHTKANRQ REPGLGFSFE FTEQQKEFQA TARKFAREEI
IPVAAEYDKT GEYPVPLIRR AWELGLMNTH IPENCGGLGL GTFDACLISE ELAYGCTGVQ
IAIEGNSLGQ MPIIIAGNDQ QKKKYLGRMT EEPLMCAYCV TEPGAGSDVA GIKTKAEKKG
DEYIINGQKM WITNGGKANW YFLLARSDPD PKAPANKAFT GFIVEADTPG IQIGRKELNM
GQRCSDTRGI VFEDVKVPKE NVLIGDGAGF KVAMGAFDKT RPVVAAGAVG LAQRALDEAT
KYALERKTFG KLLVEHQAIS FMLAEMAMKV ELARMSYQRA AWEVDSGRRN TYYASIAKAF
AGDIANQLAT DAVQILGGNG FNTEYPVEKL MRDAKIYQIY EGTSQIQRLI VAREHIDKYK
N*
speed 1.17 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