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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 CM022196)
  • known disease mutation: rs2402 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:65551738G>AN/A show variant in all transcripts   IGV
HGNC symbol ASL
Ensembl transcript ID ENST00000380839
Genbank transcript ID NM_001024946
UniProt peptide P04424
alteration type single base exchange
alteration region intron
DNA changes g.10954G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs28941473
databasehomozygous (A/A)heterozygousallele carriers
1000G011
ExAC03535

known disease mutation: rs2402 (pathogenic for Argininosuccinate lyase deficiency|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM022196)

known disease mutation at this position, please check HGMD for details (HGMD ID CM022196)
known disease mutation at this position, please check HGMD for details (HGMD ID CM022196)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.910.003
3.9250.998
(flanking)4.5671
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased10945wt: 0.34 / mu: 0.40wt: TCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACC
mu: TCCTGCCCCTGGCTTCCCACAGCCACGCCATGGCACTGACC		 caca|GCCA
Acc marginally increased10944wt: 0.8879 / mu: 0.9118 (marginal change - not scored)wt: CTCCTGCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGAC
mu: CTCCTGCCCCTGGCTTCCCACAGCCACGCCATGGCACTGAC		 ccac|AGCC
Donor marginally increased10945wt: 0.9979 / mu: 0.9982 (marginal change - not scored)wt: CCCACAGCCACGCCG
mu: CCCACAGCCACGCCA		 CACA|gcca
Donor increased10950wt: 0.72 / mu: 0.98wt: AGCCACGCCGTGGCA
mu: AGCCACGCCATGGCA		 CCAC|gccg
distance from splice site 89
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
169194HELIXmight get lost (downstream of altered splice site)
195197STRANDmight get lost (downstream of altered splice site)
202205TURNmight get lost (downstream of altered splice site)
213219HELIXmight get lost (downstream of altered splice site)
223225STRANDmight get lost (downstream of altered splice site)
229232HELIXmight get lost (downstream of altered splice site)
237264HELIXmight get lost (downstream of altered splice site)
246246CONFLICTA -> R (in Ref. 1; CAA68722, 2; AAA51786, 3; AAA51787, 4; AAA51788 and 5; AAL57276).might get lost (downstream of altered splice site)
266268TURNmight get lost (downstream of altered splice site)
288288MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
288288MUTAGENK->R: Refractory to inhibition by TSA and NAM and by addition of extra amino acids. No effect on protein structure.might get lost (downstream of altered splice site)
291314HELIXmight get lost (downstream of altered splice site)
323327HELIXmight get lost (downstream of altered splice site)
328352HELIXmight get lost (downstream of altered splice site)
357362HELIXmight get lost (downstream of altered splice site)
366369HELIXmight get lost (downstream of altered splice site)
370379HELIXmight get lost (downstream of altered splice site)
384400HELIXmight get lost (downstream of altered splice site)
405407HELIXmight get lost (downstream of altered splice site)
410414HELIXmight get lost (downstream of altered splice site)
423428HELIXmight get lost (downstream of altered splice site)
430434HELIXmight get lost (downstream of altered splice site)
431431CONFLICTG -> R (in Ref. 1; CAA68722).might get lost (downstream of altered splice site)
442444STRANDmight get lost (downstream of altered splice site)
445463HELIXmight 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 217 / 217
chromosome 7
strand 1
last intron/exon boundary 1389
theoretical NMD boundary in CDS 1122
length of CDS 1317
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)		 10954
chromosomal position
(for ins/del: last normal base / first normal base)		 65551738
original gDNA sequence snippet TGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCT
altered gDNA sequence snippet TGGCTTCCCACAGCCACGCCATGGCACTGACCCGAGACTCT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MASESGKLWG GRFVGAVDPI MEKFNASIAY DRHLWEVDVQ GSKAYSRGLE KAGLLTKAEM
DQILHGLDKV AEEWAQGTFK LNSNDEDIHT ANERRLKELI GATAGKLHTG RSRNDQVVTD
LRLWMRQTCS TLSGLLWELI RTMVDRAEAE RDVLFPGYTH LQRAQPIRWS HWILSGAIAG
NPLGVDRELL RAELNFGAIT LNSMDATSER DFVAEFLFWA SLCMTHLSRM AEDLILYCTK
EFSFVQLSDA YSTGSSLMPQ KKNPDSLELI RSKAGRVFGR CAGLLMTLKG LPSTYNKDLQ
EDKEAVFEVS DTMSAVLQVA TGVISTLQIH QENMGQALSP DMLATDLAYY LVRKGMPFRQ
AHEASGKAVF MAETKGVALN QLSLQELQTI SPLFSGDVIC VWDYGHSVEQ YGALGGTARS
SVDWQIRQVR ALLQAQQA*
mutated AA sequence N/A
speed 0.78 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