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
 hyperlink
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 ENST00000451613
Genbank transcript ID N/A
UniProt peptide Q4L235
alteration type single base exchange
alteration region CDS
DNA changes c.2240C>T
cDNA.2410C>T
g.37990C>T
AA changes A747V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 747
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      747CVAKVSEEGKPAIGTQKMELHVRW
mutated  not conserved    747CVAKVSEEGKPVIGTQKMELHVR
Ptroglodytes  all identical  ENSPTRG00000016079  746CVAKVSEEGKPAIGPQKMELHVR
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000055923  749---PLFQQGSPVVGAMAMALRER
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000015712  738---KSSEK-------DVLDLSLS
Drerio  all conserved  ENSDARG00000022730  765SHGGVRED---STGVLPLALRVL
Dmelanogaster  not conserved  FBgn0027780  920KTGPGGKSVELELH
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 2574 / 2574
position (AA) of stopcodon in wt / mu AA sequence 858 / 858
position of stopcodon in wt / mu cDNA 2744 / 2744
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 171 / 171
chromosome 4
strand -1
last intron/exon boundary 2659
theoretical NMD boundary in CDS 2438
length of CDS 2574
coding sequence (CDS) position 2240
cDNA position
(for ins/del: last normal base / first normal base)		 2410
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 MTLQELVHKA ASCYMDRVAV CFDECNNQLP VYYTYKTVVN AASELSNFLL LHCDFQGIRE
IGLYCQPGID LPSWILGILQ VPAAYVPIEP DSPPSLSTHF 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 LAVLYQWTNL
FIPVYLTIRA KNIFWFP*
mutated AA sequence MTLQELVHKA ASCYMDRVAV CFDECNNQLP VYYTYKTVVN AASELSNFLL LHCDFQGIRE
IGLYCQPGID LPSWILGILQ VPAAYVPIEP DSPPSLSTHF 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 LAVLYQWTNL
FIPVYLTIRA KNIFWFP*
speed 0.76 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