Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999998519748      (explain)
Summary
  • amino acid sequence changed
  • known as potential disease variant: rs2466 (probable pathogenic)
  • known disease mutation at this position (HGMD CM990120)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:40756440A>GN/A show variant in all transcripts   IGV
HGNC symbol ADSL
Ensembl transcript ID ENST00000454266
Genbank transcript ID N/A
UniProt peptide P30566
alteration type single base exchange
alteration region CDS
DNA changes c.778A>G
cDNA.809A>G
g.13934A>G
AA changes K260E Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 260
frameshift no
known variant Reference ID: rs119450944
Allele 'G' was neither found in ExAC nor 1000G.
known as potential disease variant: rs2466 (probable pathogenic for Adenylosuccinate lyase deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM990120)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990120)
known disease mutation at this position, please check HGMD for details (HGMD ID CM990120)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9340.457
4.6790.999
(flanking)4.6791
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased13933wt: 0.23 / mu: 0.98wt: ACACGAAAAGTGGAT
mu: ACACGAGAAGTGGAT		 ACGA|aaag
Donor gained139280.78mu: CATATACACGAGAAG TATA|cacg
distance from splice site 35
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      260AFIITGQTYTRKVDIEVLSVLASL
mutated  all conserved    260AFIITGQTYTREVDIEVLSVLAS
Ptroglodytes  all identical  ENSPTRG00000014407  246AFIITGQTYTRKVDIEILSVLAS
Mmulatta  all identical  ENSMMUG00000005341  127AFIITGQTYTRKVDIEVLS
Fcatus  not conserved  ENSFCAG00000004798  246XXXXXXXXXXXXXXXXXXXXXXX
Mmusculus  all identical  ENSMUSG00000022407  246AFIITGQTYTRKVDIEVLSVLAS
Ggallus  all identical  ENSGALG00000012034  247TGQTYSRKVDIEVLSVLAS
Trubripes  all identical  ENSTRUG00000001024  262TGQTYSRKVDVDCLSSLAS
Drerio  all identical  ENSDARG00000017049  244TGQTYSRKVDIDSLCVLSS
Dmelanogaster  all identical  FBgn0038467  241AVTGQTYSRKVDVEIVAALAS
Celegans  all conserved  R06C7.5  242RFLITGQTYSRQQDSQLVFSLSL
Xtropicalis  all identical  ENSXETG00000006328  265TGQTYSRKVDVEVLSVLAS
protein features
start (aa)end (aa)featuredetails 
246274HELIXlost
277279STRANDmight get lost (downstream of altered splice site)
295295MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
299313HELIXmight get lost (downstream of altered splice site)
316323HELIXmight get lost (downstream of altered splice site)
331333HELIXmight get lost (downstream of altered splice site)
334360HELIXmight get lost (downstream of altered splice site)
366380HELIXmight get lost (downstream of altered splice site)
382389HELIXmight get lost (downstream of altered splice site)
396416HELIXmight get lost (downstream of altered splice site)
423429HELIXmight get lost (downstream of altered splice site)
431433HELIXmight get lost (downstream of altered splice site)
434437HELIXmight get lost (downstream of altered splice site)
440443HELIXmight get lost (downstream of altered splice site)
446449HELIXmight get lost (downstream of altered splice site)
453463HELIXmight get lost (downstream of altered splice site)
465469HELIXmight get lost (downstream of altered splice site)
470472HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1497 / 1497
position (AA) of stopcodon in wt / mu AA sequence 499 / 499
position of stopcodon in wt / mu cDNA 1528 / 1528
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 32 / 32
chromosome 22
strand 1
last intron/exon boundary 1442
theoretical NMD boundary in CDS 1360
length of CDS 1497
coding sequence (CDS) position 778
cDNA position
(for ins/del: last normal base / first normal base)		 809
gDNA position
(for ins/del: last normal base / first normal base)		 13934
chromosomal position
(for ins/del: last normal base / first normal base)		 40756440
original gDNA sequence snippet CAGGGCAGACATATACACGAAAAGTGGATATTGAAGTACTG
altered gDNA sequence snippet CAGGGCAGACATATACACGAGAAGTGGATATTGAAGTACTG
original cDNA sequence snippet CAGGGCAGACATATACACGAAAAGTGGATATTGAAGTACTG
altered cDNA sequence snippet CAGGGCAGACATATACACGAGAAGTGGATATTGAAGTACTG
wildtype AA sequence MAAGGDHGSP DSYRSPLASR YASPEMCFVF SDRYKFRTWR QLWLWLAEAE QTLGLPITDE
QIQEMKSNLE NIDFKMAAEE EKRLRHDVMA HVHTFGHCCP KAAGIIHLGA TSCYVGDNTS
LILSRGVIKA YCNLRLPGSD SSPVSVSQLA RVISRLADFA KERASLPTLG FTHFQPAQLT
TVGKRCCLWI QDLCMDLQNL KRVRDDLRFR GVKGTTGTQA SFLQLFEGDD HKVEQLDKMV
TEKAGFKRAF IITGQTYTRK VDIEVLSVLA SLGASVHKIC TDIRLLANLK EMEEPFEKQQ
IGSSAMPYKR NPMRSERCCS LARHLMTLVM DPLQTASVQW FERTLDDSAN RRICLAEAFL
TADTILNTLQ NISEGLVVYP KVIERRIRQE LPFMATENII MAMVKAGGSR QDCHEKIRVL
SQQAASVVKQ EGGDNDLIER IQVDAYFSPI HSQLDHLLDP SSFTGRASQQ VQRFLEEEVY
PLLKPYESVM KVKAELCL*
mutated AA sequence MAAGGDHGSP DSYRSPLASR YASPEMCFVF SDRYKFRTWR QLWLWLAEAE QTLGLPITDE
QIQEMKSNLE NIDFKMAAEE EKRLRHDVMA HVHTFGHCCP KAAGIIHLGA TSCYVGDNTS
LILSRGVIKA YCNLRLPGSD SSPVSVSQLA RVISRLADFA KERASLPTLG FTHFQPAQLT
TVGKRCCLWI QDLCMDLQNL KRVRDDLRFR GVKGTTGTQA SFLQLFEGDD HKVEQLDKMV
TEKAGFKRAF IITGQTYTRE VDIEVLSVLA SLGASVHKIC TDIRLLANLK EMEEPFEKQQ
IGSSAMPYKR NPMRSERCCS LARHLMTLVM DPLQTASVQW FERTLDDSAN RRICLAEAFL
TADTILNTLQ NISEGLVVYP KVIERRIRQE LPFMATENII MAMVKAGGSR QDCHEKIRVL
SQQAASVVKQ EGGDNDLIER IQVDAYFSPI HSQLDHLLDP SSFTGRASQQ VQRFLEEEVY
PLLKPYESVM KVKAELCL*
speed 0.46 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