Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.20694511901203 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM920008)
  • known disease mutation: rs2461 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:40761004T>CN/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.1354T>C
cDNA.1385T>C
g.18498T>C
AA changes S452P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 452
frameshift no
known variant Reference ID: rs119450940
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs2461 (pathogenic for Adenylosuccinate lyase deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM920008)

known disease mutation at this position, please check HGMD for details (HGMD ID CM920008)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920008)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0120.938
1.2460.952
(flanking)1.5860.952
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased18495wt: 0.77 / mu: 0.86wt: ATGCCTACTTCAGTCCCATTCACTCCCAGTTGGATCATTTA
mu: ATGCCTACTTCAGTCCCATTCACCCCCAGTTGGATCATTTA		 attc|ACTC
Acc marginally increased18499wt: 0.5057 / mu: 0.5123 (marginal change - not scored)wt: CTACTTCAGTCCCATTCACTCCCAGTTGGATCATTTACTGG
mu: CTACTTCAGTCCCATTCACCCCCAGTTGGATCATTTACTGG		 actc|CCAG
distance from splice site 57
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      452IQVDAYFSPIHSQLDHLLDPSSFT
mutated  not conserved    452IQVDAYFSPIHPQLDHLLDPSSF
Ptroglodytes  all identical  ENSPTRG00000014407  438IQADAYFSPIHSQLDHLLDPSSF
Mmulatta  all identical  ENSMMUG00000005341  317SPIHSQLDRLLDPSSF
Fcatus  all identical  ENSFCAG00000004798  438IQADAYFSPIHSQLDRLLDPSSF
Mmusculus  all identical  ENSMUSG00000022407  438IRADAYFSPIHSQLEHLLDPSSF
Ggallus  not conserved  ENSGALG00000012034  439VRADPYFSPIHEHLDSLLDPSSF
Trubripes  not conserved  ENSTRUG00000001024  454VQKDPYFAPILGQLDAILEPKTF
Drerio  not conserved  ENSDARG00000017049  436VQADPYFAPILGELDALLDPKTF
Dmelanogaster  not conserved  FBgn0038467  433VRKDPYFSPILEQLDTILDAKTF
Celegans  not conserved  R06C7.5  434TMADPFFDSVRDRVVGLVNNPINF
Xtropicalis  all conserved  ENSXETG00000006328  457IQSDSYFAPIHAHLEQLLDPKSF
protein features
start (aa)end (aa)featuredetails 
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 1354
cDNA position
(for ins/del: last normal base / first normal base)		 1385
gDNA position
(for ins/del: last normal base / first normal base)		 18498
chromosomal position
(for ins/del: last normal base / first normal base)		 40761004
original gDNA sequence snippet CCTACTTCAGTCCCATTCACTCCCAGTTGGATCATTTACTG
altered gDNA sequence snippet CCTACTTCAGTCCCATTCACCCCCAGTTGGATCATTTACTG
original cDNA sequence snippet CCTACTTCAGTCCCATTCACTCCCAGTTGGATCATTTACTG
altered cDNA sequence snippet CCTACTTCAGTCCCATTCACCCCCAGTTGGATCATTTACTG
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 IITGQTYTRK VDIEVLSVLA SLGASVHKIC TDIRLLANLK EMEEPFEKQQ
IGSSAMPYKR NPMRSERCCS LARHLMTLVM DPLQTASVQW FERTLDDSAN RRICLAEAFL
TADTILNTLQ NISEGLVVYP KVIERRIRQE LPFMATENII MAMVKAGGSR QDCHEKIRVL
SQQAASVVKQ EGGDNDLIER IQVDAYFSPI HPQLDHLLDP SSFTGRASQQ VQRFLEEEVY
PLLKPYESVM KVKAELCL*
speed 0.94 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