Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999914663548      (explain)
Summary
  • amino acid sequence changed
  • known as potential disease variant: rs5357 (probable pathogenic)
  • known disease mutation at this position (HGMD CM063826)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:134131680C>TN/A show variant in all transcripts   IGV
HGNC symbol ACAD8
Ensembl transcript ID ENST00000374752
Genbank transcript ID N/A
UniProt peptide Q9UKU7
alteration type single base exchange
alteration region CDS
DNA changes c.607C>T
cDNA.647C>T
g.8292C>T
AA changes R203W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 203
frameshift no
known variant Reference ID: rs121908420
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known as potential disease variant: rs5357 (probable pathogenic for Deficiency of isobutyryl-CoA dehydrogenase|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM063826)

known disease mutation at this position, please check HGMD for details (HGMD ID CM063826)
known disease mutation at this position, please check HGMD for details (HGMD ID CM063826)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-4.6420
1.740.938
(flanking)6.1851
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained82850.89mu: CTGGTGGCCGCGTGG GGTG|gccg
distance from splice site 49
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      203LADMATRLVAARLMVRNAAVALQE
mutated  not conserved    203LADMATRLVAAWLMVRNAAVALQ
Ptroglodytes  all identical  ENSPTRG00000004496  330LADMATRLVAARLMVRNAAVALQ
Mmulatta  all identical  ENSMMUG00000007107  330LADMATRLVAARLMIRNAAVALQ
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031969  328LADMATKLVASRLMIRTAAVALQ
Ggallus  all identical  ENSGALG00000001557  327LAEMATRLVAARLVVRNAARALQ
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000042658  332LAEMATKLVASRLLVRQAALALQ
Dmelanogaster  no homologue    
Celegans  all identical  F28A10.6  318LAELATKLYTSRLIVRNAAEQLD
Xtropicalis  all identical  ENSXETG00000008327  331LADMATRLVTARLIVRHAAQALQ
protein features
start (aa)end (aa)featuredetails 
199211STRANDlost
210210CONFLICTP -> L (in Ref. 4; AAH01964).might get lost (downstream of altered splice site)
212214HELIXmight get lost (downstream of altered splice site)
215221STRANDmight get lost (downstream of altered splice site)
227229STRANDmight get lost (downstream of altered splice site)
235237STRANDmight get lost (downstream of altered splice site)
243254STRANDmight get lost (downstream of altered splice site)
255257HELIXmight get lost (downstream of altered splice site)
258261STRANDmight get lost (downstream of altered splice site)
265301HELIXmight get lost (downstream of altered splice site)
274277REGIONSubstrate binding.might get lost (downstream of altered splice site)
302302BINDINGFAD; shared with dimeric partner.might get lost (downstream of altered splice site)
309311HELIXmight get lost (downstream of altered splice site)
312313NP_BINDFAD; shared with dimeric partner.might get lost (downstream of altered splice site)
313341HELIXmight get lost (downstream of altered splice site)
347372HELIXmight get lost (downstream of altered splice site)
371375NP_BINDFAD; shared with dimeric partner.might get lost (downstream of altered splice site)
373378HELIXmight get lost (downstream of altered splice site)
384393HELIXmight get lost (downstream of altered splice site)
394396TURNmight get lost (downstream of altered splice site)
397399STRANDmight get lost (downstream of altered splice site)
398398ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
399399BINDINGSubstrate; via amide nitrogen.might get lost (downstream of altered splice site)
400402NP_BINDFAD.might get lost (downstream of altered splice site)
401414HELIXmight get lost (downstream of altered splice site)
410410BINDINGSubstrate.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 867 / 867
position (AA) of stopcodon in wt / mu AA sequence 289 / 289
position of stopcodon in wt / mu cDNA 907 / 907
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 41 / 41
chromosome 11
strand 1
last intron/exon boundary 855
theoretical NMD boundary in CDS 764
length of CDS 867
coding sequence (CDS) position 607
cDNA position
(for ins/del: last normal base / first normal base)		 647
gDNA position
(for ins/del: last normal base / first normal base)		 8292
chromosomal position
(for ins/del: last normal base / first normal base)		 134131680
original gDNA sequence snippet CAACAAGGCTGGTGGCCGCGCGGCTGATGGTCCGCAATGCA
altered gDNA sequence snippet CAACAAGGCTGGTGGCCGCGTGGCTGATGGTCCGCAATGCA
original cDNA sequence snippet CAACAAGGCTGGTGGCCGCGCGGCTGATGGTCCGCAATGCA
altered cDNA sequence snippet CAACAAGGCTGGTGGCCGCGTGGCTGATGGTCCGCAATGCA
wildtype AA sequence MLWSGCRRFG ARLGCLPGGL RVLVQTGHRS LTSCIDRSGS DAASLLTSAK KQGDHYILNG
SKAFISGAGE SDIYVVMCRT GGPGPKGISC IVVEKGTPGL SFGKKEKKVG WNSQPTRAVI
FEDCAVPVAN RIGSEGQGFL IAVRGLNGGR INIASCSLGA AHASVILTRD HLNVRKQFGE
PLASNQYLQF TLADMATRLV AARLMVRNAA VALQEERKDA VALCSMAKLF ATDECFAICN
QALQMHGGYG YLKDYAVQQY VRDSRVHQIL EGSNEVMRIL ISRSLLQE*
mutated AA sequence MLWSGCRRFG ARLGCLPGGL RVLVQTGHRS LTSCIDRSGS DAASLLTSAK KQGDHYILNG
SKAFISGAGE SDIYVVMCRT GGPGPKGISC IVVEKGTPGL SFGKKEKKVG WNSQPTRAVI
FEDCAVPVAN RIGSEGQGFL IAVRGLNGGR INIASCSLGA AHASVILTRD HLNVRKQFGE
PLASNQYLQF TLADMATRLV AAWLMVRNAA VALQEERKDA VALCSMAKLF ATDECFAICN
QALQMHGGYG YLKDYAVQQY VRDSRVHQIL EGSNEVMRIL ISRSLLQE*
speed 0.99 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