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 ENST00000434343
Genbank transcript ID N/A
UniProt peptide Q4L235
alteration type single base exchange
alteration region CDS
DNA changes c.785C>T
cDNA.1793C>T
g.37990C>T
AA changes A262V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 262
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      262CVAKVSEEGKPAIGTQKMELHVRW
mutated  not conserved    262CVAKVSEEGKPVIGTQKMELHVR
Ptroglodytes  all identical  ENSPTRG00000016079  746CVAKVSEEGKPAIGPQKMELHVR
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000055923  749----LFQQGSPVVGAMAMALRER
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000015712  728---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 1842 / 1842
position (AA) of stopcodon in wt / mu AA sequence 614 / 614
position of stopcodon in wt / mu cDNA 2850 / 2850
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 1009 / 1009
chromosome 4
strand -1
last intron/exon boundary 2461
theoretical NMD boundary in CDS 1402
length of CDS 1842
coding sequence (CDS) position 785
cDNA position
(for ins/del: last normal base / first normal base)		 1793
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 MVSKDASVKE YIFKELQKYL PSHAVPDELV LIDSLPFTSH GKIDVSELNK IYLNYINLKS
ENKLSGKEDL WEKLQYLWKS TLNLPEDLLR VPDESLFLNS GGDSLKSIRL LSEIEKLVGT
SVPGLLEIIL SSSILEIYNH ILQTVVPDED VTFRKSCATK RKLSDINQEE ASGTSLHQKA
IMTFTCHNEI NAFVVLSRGS QILSLNSTRF LTKLGHCSSA CPSDSVSQTN IQNLKGLNSP
VLIGKSKDPS CVAKVSEEGK PAIGTQKMEL HVRWRSDTGK CVDASPLVVI PTFDKSSTTV
YIGSHSHRMK AVDFYSGKVK WEQILGDRIE SSACVSKCGN FIVVGCYNGL VYVLKSNSGE
KYWMFTTEDA VKSSATMDPT TGLIYIGSHD QHAYALDIYR KKCVWKSKCG GTVFSSPCLN
LIPHHLYFAT LGGLLLAVNP ATGNVIWKHS CGKPLFSSPQ CCSQYICIGC VDGNLLCFTH
FGEQVWQFST SGPIFSSPCT SPSEQKIFFG SHDCFIYCCN MKGHLQWKFE TTSRVYATPF
AFHNYNGSNE MLLAAASTDG KVWILESQSG QLQSVYELPG EVFSSPVVLE SMLIIGCRDN
YVYCLDLLGG NQK*
mutated AA sequence MVSKDASVKE YIFKELQKYL PSHAVPDELV LIDSLPFTSH GKIDVSELNK IYLNYINLKS
ENKLSGKEDL WEKLQYLWKS TLNLPEDLLR VPDESLFLNS GGDSLKSIRL LSEIEKLVGT
SVPGLLEIIL SSSILEIYNH ILQTVVPDED VTFRKSCATK RKLSDINQEE ASGTSLHQKA
IMTFTCHNEI NAFVVLSRGS QILSLNSTRF LTKLGHCSSA CPSDSVSQTN IQNLKGLNSP
VLIGKSKDPS CVAKVSEEGK PVIGTQKMEL HVRWRSDTGK CVDASPLVVI PTFDKSSTTV
YIGSHSHRMK AVDFYSGKVK WEQILGDRIE SSACVSKCGN FIVVGCYNGL VYVLKSNSGE
KYWMFTTEDA VKSSATMDPT TGLIYIGSHD QHAYALDIYR KKCVWKSKCG GTVFSSPCLN
LIPHHLYFAT LGGLLLAVNP ATGNVIWKHS CGKPLFSSPQ CCSQYICIGC VDGNLLCFTH
FGEQVWQFST SGPIFSSPCT SPSEQKIFFG SHDCFIYCCN MKGHLQWKFE TTSRVYATPF
AFHNYNGSNE MLLAAASTDG KVWILESQSG QLQSVYELPG EVFSSPVVLE SMLIIGCRDN
YVYCLDLLGG NQK*
speed 1.04 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