Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998536 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:57215677G>AN/A show variant in all transcripts   IGV
HGNC symbol AASDH
Ensembl transcript ID ENST00000503808
Genbank transcript ID N/A
UniProt peptide Q4L235
alteration type single base exchange
alteration region CDS
DNA changes c.1781C>T
cDNA.2259C>T
g.37990C>T
AA changes A594V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 594
frameshift no
known variant Reference ID: rs3796544
databasehomozygous (A/A)heterozygousallele carriers
1000G2219501171
ExAC87271531324040
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0420
-2.0440
(flanking)0.4330.003
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased37994wt: 0.5304 / mu: 0.5337 (marginal change - not scored)wt: GCGATAGGGACTCAG
mu: GTGATAGGGACTCAG		 GATA|ggga
distance from splice site 249
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      594CVAKVSEEGKPAIGTQKMELHVRW
mutated  not conserved    594CVAKVSEEGKPVIGTQKM
Ptroglodytes  all identical  ENSPTRG00000016079  746CVAKVSEEGKPAIGPQKM
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000055923  749---PLFQQGSPVVGAMAMALRER
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000015712  725---KSSEK-------DVLDLSLS
Drerio  all conserved  ENSDARG00000022730  775SHGGVRED---STGVLPLALRVL
Dmelanogaster  not conserved  FBgn0027780  920KTGPGGKSVELELH
Celegans  no alignment  W09D6.1  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
555626DOMAINAcyl carrier.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2370 / 2370
position (AA) of stopcodon in wt / mu AA sequence 790 / 790
position of stopcodon in wt / mu cDNA 2848 / 2848
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 479 / 479
chromosome 4
strand -1
last intron/exon boundary 2763
theoretical NMD boundary in CDS 2234
length of CDS 2370
coding sequence (CDS) position 1781
cDNA position
(for ins/del: last normal base / first normal base)		 2259
gDNA position
(for ins/del: last normal base / first normal base)		 37990
chromosomal position
(for ins/del: last normal base / first normal base)		 57215677
original gDNA sequence snippet TTCTGAAGAGGGGAAACCTGCGATAGGGACTCAGAAAATGG
altered gDNA sequence snippet TTCTGAAGAGGGGAAACCTGTGATAGGGACTCAGAAAATGG
original cDNA sequence snippet TTCTGAAGAGGGGAAACCTGCGATAGGGACTCAGAAAATGG
altered cDNA sequence snippet TTCTGAAGAGGGGAAACCTGTGATAGGGACTCAGAAAATGG
wildtype AA sequence MLNDGKEKYE KEKIKSISSE HVNEEKAEEH MDLRLKHCLA YVLHTSGTTG IPKIVRVPHK
CIVPNIQHFR VLFDITQEDV LFLASPLTFD PSVVEIFLAL SSGASLLIVP TSVKLLPSKL
ASVLFSHHRV TVLQATPTLL RRFGSQLIKS TVLSATTSLR VLALGGEAFP SLTVLRSWRG
EGNKTQIFNV YGITEVSSWA TIYRIPEKTL NSTLKCELPV QLGFPLLGTV VEVRDTNGFT
IQEGSGQVFL GGRNRVCFLD DEVTVPLGTM RATGDFVTVK DGEIFFLGRK DSQIKRHGKR
LNIELVQQVA EELQQVESCA VTWYNQEKLI LFMVSKDASV KEYIFKELQK YLPSHAVPDE
LVLIDSLPFT SHGKIDVSEL NKIYLNYINL KSENKLSGKE DLWEKLQYLW KSTLNLPEDL
LRVPDESLFL NSGGDSLKSI RLLSEIEKLV GTSVPGLLEI ILSSSILEIY NHILQTVVPD
EDVTFRKSCA TKRKLSDINQ EEASGTSLHQ KAIMTFTCHN EINAFVVLSR GSQILSLNST
RFLTKLGHCS SACPSDSVSQ TNIQNLKGLN SPVLIGKSKD PSCVAKVSEE GKPAIGTQKM
ELHVRWRSDT GKCVDASPLV VIPTFDKSST TVYIGSHSHR MKAVDFYSGK VKWEQILGDR
IESSACVSKC GNFIVVEKEV CLEVKMWRNC LFLSVFEPDS TSFVFCYIGR TFTGCKSCYW
ERYLETFLWK TTLLFPTMLL TVYLYWLCRW EFTLLYSLWR TGLAVLYQWT NLFIPVYLTI
RAKNIFWFP*
mutated AA sequence MLNDGKEKYE KEKIKSISSE HVNEEKAEEH MDLRLKHCLA YVLHTSGTTG IPKIVRVPHK
CIVPNIQHFR VLFDITQEDV LFLASPLTFD PSVVEIFLAL SSGASLLIVP TSVKLLPSKL
ASVLFSHHRV TVLQATPTLL RRFGSQLIKS TVLSATTSLR VLALGGEAFP SLTVLRSWRG
EGNKTQIFNV YGITEVSSWA TIYRIPEKTL NSTLKCELPV QLGFPLLGTV VEVRDTNGFT
IQEGSGQVFL GGRNRVCFLD DEVTVPLGTM RATGDFVTVK DGEIFFLGRK DSQIKRHGKR
LNIELVQQVA EELQQVESCA VTWYNQEKLI LFMVSKDASV KEYIFKELQK YLPSHAVPDE
LVLIDSLPFT SHGKIDVSEL NKIYLNYINL KSENKLSGKE DLWEKLQYLW KSTLNLPEDL
LRVPDESLFL NSGGDSLKSI RLLSEIEKLV GTSVPGLLEI ILSSSILEIY NHILQTVVPD
EDVTFRKSCA TKRKLSDINQ EEASGTSLHQ KAIMTFTCHN EINAFVVLSR GSQILSLNST
RFLTKLGHCS SACPSDSVSQ TNIQNLKGLN SPVLIGKSKD PSCVAKVSEE GKPVIGTQKM
ELHVRWRSDT GKCVDASPLV VIPTFDKSST TVYIGSHSHR MKAVDFYSGK VKWEQILGDR
IESSACVSKC GNFIVVEKEV CLEVKMWRNC LFLSVFEPDS TSFVFCYIGR TFTGCKSCYW
ERYLETFLWK TTLLFPTMLL TVYLYWLCRW EFTLLYSLWR TGLAVLYQWT NLFIPVYLTI
RAKNIFWFP*
speed 0.17 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