Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999503485 (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)
 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 ENST00000541113
Genbank transcript ID N/A
UniProt peptide P11310
alteration type single base exchange
alteration region CDS
DNA changes c.254C>T
cDNA.307C>T
g.9253C>T
AA changes T85I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 85
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      85EELAYGCTGVQTAIEGNSLGQMPI
mutated  not conserved    85EELAYGCTGVQIAIEGNSLGQMP
Ptroglodytes  all identical  ENSPTRG00000000871  121EELAYGCTGVQTAIEGNSLGQMP
Mmulatta  all identical  ENSMMUG00000007220  124EELAYGCTGVQTAIEGN
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000062908  121EELAYGCTGVQTAIEANSLGQMP
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000007137  126EELAYGCTGVQTAIEANSLGQMP
Drerio  all identical  ENSDARG00000038900  126EELAYGCTGVQTAIEANSLGQMP
Dmelanogaster  all identical  FBgn0035811  117EELAYGCTGIMTALEASGLGQTP
Celegans  not conserved  T08G2.3  111EALSYGCTGIQLGIMGPSLAIAP
Xtropicalis  all identical  ENSXETG00000002983  126EEIAYGCTGVQTAIEANSLGQMP
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1158 / 1158
position (AA) of stopcodon in wt / mu AA sequence 386 / 386
position of stopcodon in wt / mu cDNA 1211 / 1211
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 54 / 54
chromosome 1
strand 1
last intron/exon boundary 1140
theoretical NMD boundary in CDS 1036
length of CDS 1158
coding sequence (CDS) position 254
cDNA position
(for ins/del: last normal base / first normal base)		 307
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 MLQEFTEQQK EFQATARKFA REEIIPVAAE YDKTGEYPVP LIRRAWELGL MNTHIPENCG
GLGLGTFDAC LISEELAYGC TGVQTAIEGN SLGQMPIIIA GNDQQKKKYL GRMTEEPLMC
AYCVTEPGAG SDVAGIKTKA EKKGDEYIIN GQKMWITNGG KANWYFLLAR SDPDPKAPAN
KAFTGFIVEA DTPGIQIGRK ELNMGQRCSD TRGIVFEDVK VPKENVLIGD GAGFKVAMGA
FDKTRPVVAA GAVGLAQRAL DEATKYALER KTFGKLLVEH QAISFMLAEM AMKVELARMS
YQRAAWEVDS GRRNTYYASI AKAFAGDIAN QLATDAVQIL GGNGFNTEYP VEKLMRDAKI
YQIYEGTSQI QRLIVAREHI DKYKN*
mutated AA sequence MLQEFTEQQK EFQATARKFA REEIIPVAAE YDKTGEYPVP LIRRAWELGL MNTHIPENCG
GLGLGTFDAC LISEELAYGC TGVQIAIEGN SLGQMPIIIA GNDQQKKKYL GRMTEEPLMC
AYCVTEPGAG SDVAGIKTKA EKKGDEYIIN GQKMWITNGG KANWYFLLAR SDPDPKAPAN
KAFTGFIVEA DTPGIQIGRK ELNMGQRCSD TRGIVFEDVK VPKENVLIGD GAGFKVAMGA
FDKTRPVVAA GAVGLAQRAL DEATKYALER KTFGKLLVEH QAISFMLAEM AMKVELARMS
YQRAAWEVDS GRRNTYYASI AKAFAGDIAN QLATDAVQIL GGNGFNTEYP VEKLMRDAKI
YQIYEGTSQI QRLIVAREHI DKYKN*
speed 1.32 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