Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999990305811 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM022198)
  • known disease mutation: rs2401 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:65557553C>TN/A show variant in all transcripts   IGV
HGNC symbol ASL
Ensembl transcript ID ENST00000395331
Genbank transcript ID NM_001024944
UniProt peptide P04424
alteration type single base exchange
alteration region CDS
DNA changes c.1093C>T
cDNA.1291C>T
g.16769C>T
AA changes R365C Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 365
frameshift no
known variant Reference ID: rs28940286
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC088

known disease mutation: rs2401 (pathogenic for Argininosuccinate lyase deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM022198)

known disease mutation at this position, please check HGMD for details (HGMD ID CM022198)
known disease mutation at this position, please check HGMD for details (HGMD ID CM022198)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.161
1.5321
(flanking)3.9071
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased16773wt: 0.8790 / mu: 0.9264 (marginal change - not scored)wt: CACCCAGATGCCATTCCGCCAGGCCCACGAGGCCTCCGGGA
mu: CACCCAGATGCCATTCTGCCAGGCCCACGAGGCCTCCGGGA		 gcca|GGCC
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      365AYYLVRKGMPFRQAHEASGKAVFM
mutated  not conserved    365GMPFCQAHEASGKAVF
Ptroglodytes  all identical  ENSPTRG00000019245  385AYYLVRKGMPFRQAHEASGKAVF
Mmulatta  all identical  ENSMMUG00000011871  381AYYLVRKGMPFRQAHEASGKAVF
Fcatus  not conserved  ENSFCAG00000006929  470XXXXXXXXXXXXXXXXXXXXXXX
Mmusculus  all identical  ENSMUSG00000025533  385AYYLVRKGMPFRQAHEASGKAVF
Ggallus  all identical  ENSGALG00000002576  400ALYLVRKGMPFRQAHVASGKAVH
Trubripes  all identical  ENSTRUG00000012953  386AYYLVRKGVPFREAHSLSGKAVS
Drerio  all identical  ENSDARG00000033361  386AYHLVRKGMPFREAHGCAGKAVY
Dmelanogaster  all identical  FBgn0032076  388AYYLVKKGVPFRQAHHIIGRVVS
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000000846  386AYYLVRKGMPFRQAHGVSGKVVQ
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1335 / 1335
position (AA) of stopcodon in wt / mu AA sequence 445 / 445
position of stopcodon in wt / mu cDNA 1533 / 1533
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 199 / 199
chromosome 7
strand 1
last intron/exon boundary 1389
theoretical NMD boundary in CDS 1140
length of CDS 1335
coding sequence (CDS) position 1093
cDNA position
(for ins/del: last normal base / first normal base)		 1291
gDNA position
(for ins/del: last normal base / first normal base)		 16769
chromosomal position
(for ins/del: last normal base / first normal base)		 65557553
original gDNA sequence snippet CTGGCACCCAGATGCCATTCCGCCAGGCCCACGAGGCCTCC
altered gDNA sequence snippet CTGGCACCCAGATGCCATTCTGCCAGGCCCACGAGGCCTCC
original cDNA sequence snippet TCCGCAAAGGGATGCCATTCCGCCAGGCCCACGAGGCCTCC
altered cDNA sequence snippet TCCGCAAAGGGATGCCATTCTGCCAGGCCCACGAGGCCTCC
wildtype AA sequence MASESGKLWG GRFVGAVDPI MEKFNASIAY DRHLWEVDVQ GSKAYSRGLE KAGLLTKAEM
DQILHGLDKV AEEWAQGTFK LNSNDEDIHT ANERRLKELI GATAGKLHTG RSRNDQVVTD
LRLWMRQTCS TLSGLLWELI RTMVDRAEAE RDVLFPGYTH LQRAQPIRWS HWILSHAVAL
TRDSERLLEV RKRINVLPLG SGAIAGNPLG VDRELLRAEL NFGAITLNSM DATSERDFVA
EFLFWASLCM THLSRMAEDL ILYCTKEFSF VQLSDAYSTG SSLMPQKKNP DSLELIRSKA
GRVFGREDKE AVFEVSDTMS AVLQVATGVI STLQIHQENM GQALSPDMLA TDLAYYLVRK
GMPFRQAHEA SGKAVFMAET KGVALNQLSL QELQTISPLF SGDVICVWDY GHSVEQYGAL
GGTARSSVDW QIRQVRALLQ AQQA*
mutated AA sequence MASESGKLWG GRFVGAVDPI MEKFNASIAY DRHLWEVDVQ GSKAYSRGLE KAGLLTKAEM
DQILHGLDKV AEEWAQGTFK LNSNDEDIHT ANERRLKELI GATAGKLHTG RSRNDQVVTD
LRLWMRQTCS TLSGLLWELI RTMVDRAEAE RDVLFPGYTH LQRAQPIRWS HWILSHAVAL
TRDSERLLEV RKRINVLPLG SGAIAGNPLG VDRELLRAEL NFGAITLNSM DATSERDFVA
EFLFWASLCM THLSRMAEDL ILYCTKEFSF VQLSDAYSTG SSLMPQKKNP DSLELIRSKA
GRVFGREDKE AVFEVSDTMS AVLQVATGVI STLQIHQENM GQALSPDMLA TDLAYYLVRK
GMPFCQAHEA SGKAVFMAET KGVALNQLSL QELQTISPLF SGDVICVWDY GHSVEQYGAL
GGTARSSVDW QIRQVRALLQ AQQA*
speed 0.17 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