Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM990123)
  • known disease mutation: rs2462 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:40760969G>AN/A show variant in all transcripts   IGV
HGNC symbol ADSL
Ensembl transcript ID ENST00000342312
Genbank transcript ID NM_001123378
UniProt peptide P30566
alteration type single base exchange
alteration region intron
DNA changes g.18463G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs119450941
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC03131

known disease mutation: rs2462 (pathogenic for Adenylosuccinate lyase deficiency|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM990123)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990123)
known disease mutation at this position, please check HGMD for details (HGMD ID CM990123)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.4521
5.5250.999
(flanking)-2.5750.041
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased18465wt: 0.52 / mu: 0.63wt: AGCGTATCCAGGTTG
mu: AGCATATCCAGGTTG		 CGTA|tcca
distance from splice site 600
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
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 N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 28 / 28
chromosome 22
strand 1
last intron/exon boundary 1219
theoretical NMD boundary in CDS 1141
length of CDS 1278
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 18463
chromosomal position
(for ins/del: last normal base / first normal base)		 40760969
original gDNA sequence snippet TGACAATGACCTCATAGAGCGTATCCAGGTTGATGCCTACT
altered gDNA sequence snippet TGACAATGACCTCATAGAGCATATCCAGGTTGATGCCTACT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MAAGGDHGSP DSYRSPLASR YASPEMCFVF SDRYKFRTWR QLWLWLAEAE QTLGLPITDE
QIQEMKSNLE NIDFKMAAEE EKRLRHDVMA HVHTFGHCCP KAAGIIHLGA TSCYVGDNTD
LIILRNALDL LLPKLARVIS RLADFAKERA SLPTLGFTHF QPAQLTTVGK RCCLWIQDLC
MDLQNLKRVR DDLRFRGVKG TTGTQASFLQ LFEGDDHKVE QLDKMVTEKA GFKRAFIITG
QTYTRKVDIE VLSVLASLGA SVHKICTDIR LLANLKEMEE PFEKQQIGSS AMPYKRNPMR
SERCCSLARH LMTLVMDPLQ TASVQWFERT LDDSANRRIC LAEAFLTADT ILNTLQNISE
GLVVYPKVIE RRIRQELPFM ATENIIMAMV KAGGSRQVQR FLEEEVYPLL KPYESVMKVK
AELCL*
mutated AA sequence N/A
speed 0.10 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