Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999118 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
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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 ENST00000513376
Genbank transcript ID N/A
UniProt peptide Q4L235
alteration type single base exchange
alteration region CDS
DNA changes c.1940C>T
cDNA.2072C>T
g.37990C>T
AA changes A647V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 647
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      647CVAKVSEEGKPAIGTQKMELHVRW
mutated  not conserved    647CVAKVSEEGKPVIGTQKMELHVR
Ptroglodytes  all identical  ENSPTRG00000016079  746CVAKVSEEGKPAIGPQKMELHVR
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000055923  749---PLFQQGSPVVGAMAMALR
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000015712  747---KSSEK-------DV
Drerio  all conserved  ENSDARG00000022730  774SHGGVRED---STGVLPLALRVL
Dmelanogaster  not conserved  FBgn0027780  776VCSYADDYNVYCLSAERQE--VL
Celegans  no alignment  W09D6.1  n/a
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2997 / 2997
position (AA) of stopcodon in wt / mu AA sequence 999 / 999
position of stopcodon in wt / mu cDNA 3129 / 3129
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 133 / 133
chromosome 4
strand -1
last intron/exon boundary 2740
theoretical NMD boundary in CDS 2557
length of CDS 2997
coding sequence (CDS) position 1940
cDNA position
(for ins/del: last normal base / first normal base)		 2072
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 MKKCNLKYIL VEKKQINKFK SFHETLLNYD TFTVEHNDLV LFRLHWKNTE VNLMLNDGKE
KYEKEKIKSI SSEHVNEEKA EEHMDLRLKH CLAYVLHTSG TTGIPKIVRV PHKCIVPNIQ
HFRVLFDITQ EDVLFLASPL TFDPSVVEIF LALSSGASLL IVPTSVKLLP SKLASVLFSH
HRVTVLQATP TLLRRFGSQL IKSTVLSATT SLRVLALGGE AFPSLTVLRS WRGEGNKTQI
FNVYGITEVS SWATIYRIPE KTLNSTLKCE LPVQLGFPLL GTVVEVRDTN GFTIQEGSGQ
VFLGGRNRVC FLDDEVTVPL GTMRATGDFV TVKDGEIFFL GRKDSQIKRH GKRLNIELVQ
QVAEELQQVE SCAVTWYNQE KLILFMVSKD ASVKEYIFKE LQKYLPSHAV PDELVLIDSL
PFTSHGKIDV SELNKIYLNY INLKSENKLS GKEDLWEKLQ YLWKSTLNLP EDLLRVPDES
LFLNSGGDSL KSIRLLSEIE KLVGTSVPGL LEIILSSSIL EIYNHILQTV VPDEDVTFRK
SCATKRKLSD INQEEASGTS LHQKAIMTFT CHNEINAFVV LSRGSQILSL NSTRFLTKLG
HCSSACPSDS VSQTNIQNLK GLNSPVLIGK SKDPSCVAKV SEEGKPAIGT QKMELHVRWR
SDTGKCVDAS PLVVIPTFDK SSTTVYIGSH SHRMKAVDFY SGKVKWEQIL GDRIESSACV
SKCGNFIVVG CYNGLVYVLK SNSGEKYWMF TTEDAVKSSA TMDPTTGLIY IGSHDQHAYA
LDIYRKKCVW KSKCGGTVFS SPCLNLIPHH LYFATLGGLL LAVNPATGNV IWKHSCGKPL
FSSPQCCSQY ICIGCVDGNL LCFTHFGEQV WQFSTSGPIF SSPCTSPSEQ KIFFGSHDCF
IYCCNMKGHL QWKFETTSRV YATPFAFHNY NGSNEMLLAA ASTDGKVWIL ESQSGQLQSV
YELPGEVFSS PVVLESMLII GCRDNYVYCL DLLGGNQK*
mutated AA sequence MKKCNLKYIL VEKKQINKFK SFHETLLNYD TFTVEHNDLV LFRLHWKNTE VNLMLNDGKE
KYEKEKIKSI SSEHVNEEKA EEHMDLRLKH CLAYVLHTSG TTGIPKIVRV PHKCIVPNIQ
HFRVLFDITQ EDVLFLASPL TFDPSVVEIF LALSSGASLL IVPTSVKLLP SKLASVLFSH
HRVTVLQATP TLLRRFGSQL IKSTVLSATT SLRVLALGGE AFPSLTVLRS WRGEGNKTQI
FNVYGITEVS SWATIYRIPE KTLNSTLKCE LPVQLGFPLL GTVVEVRDTN GFTIQEGSGQ
VFLGGRNRVC FLDDEVTVPL GTMRATGDFV TVKDGEIFFL GRKDSQIKRH GKRLNIELVQ
QVAEELQQVE SCAVTWYNQE KLILFMVSKD ASVKEYIFKE LQKYLPSHAV PDELVLIDSL
PFTSHGKIDV SELNKIYLNY INLKSENKLS GKEDLWEKLQ YLWKSTLNLP EDLLRVPDES
LFLNSGGDSL KSIRLLSEIE KLVGTSVPGL LEIILSSSIL EIYNHILQTV VPDEDVTFRK
SCATKRKLSD INQEEASGTS LHQKAIMTFT CHNEINAFVV LSRGSQILSL NSTRFLTKLG
HCSSACPSDS VSQTNIQNLK GLNSPVLIGK SKDPSCVAKV SEEGKPVIGT QKMELHVRWR
SDTGKCVDAS PLVVIPTFDK SSTTVYIGSH SHRMKAVDFY SGKVKWEQIL GDRIESSACV
SKCGNFIVVG CYNGLVYVLK SNSGEKYWMF TTEDAVKSSA TMDPTTGLIY IGSHDQHAYA
LDIYRKKCVW KSKCGGTVFS SPCLNLIPHH LYFATLGGLL LAVNPATGNV IWKHSCGKPL
FSSPQCCSQY ICIGCVDGNL LCFTHFGEQV WQFSTSGPIF SSPCTSPSEQ KIFFGSHDCF
IYCCNMKGHL QWKFETTSRV YATPFAFHNY NGSNEMLLAA ASTDGKVWIL ESQSGQLQSV
YELPGEVFSS PVVLESMLII GCRDNYVYCL DLLGGNQK*
speed 0.87 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