Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999993671277 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM900030)
  • known disease mutation: rs2399 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:65554101A>GN/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 CDS
DNA changes c.779A>G
cDNA.995A>G
g.13317A>G
AA changes Q260R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 260
frameshift no
known variant Reference ID: rs28941472
databasehomozygous (G/G)heterozygousallele carriers
1000G---
ExAC099

known disease mutation: rs2399 (pathogenic for Argininosuccinate lyase deficiency|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM900030)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900030)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900030)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.61
4.631
(flanking)2.3131
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 24
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      260DAYSTGSSLMPQKKNPDSLELIRS
mutated  all conserved    260DAYSTGSSLMPRKKNPDSLELIR
Ptroglodytes  all identical  ENSPTRG00000019245  286DAYSTGSSLMPQKKNPDSLELIR
Mmulatta  all identical  ENSMMUG00000011871  285DAYSTGSSLMPQKKNPDTHVNII
Fcatus  all identical  ENSFCAG00000006929  371DAYSTGSSLMPQKKNPDSLELIR
Mmusculus  all identical  ENSMUSG00000025533  286DAYSTGSSLMPQKKNPDSLELIR
Ggallus  all identical  ENSGALG00000002576  301DAYSTGSSLLPQKKNPDSLELIR
Trubripes  all identical  ENSTRUG00000012953  287DAYSTGSSLMPQKKNADSLELIR
Drerio  all identical  ENSDARG00000033361  287DAYSTGSSLMPQKKNADSLELIR
Dmelanogaster  all identical  FBgn0032076  289DGFSSGSSLMPQKRNPDSLELIR
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000000846  288DSYR-GAAHGPTVGDPCRRQLSR
protein features
start (aa)end (aa)featuredetails 
237264HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1317 / 1317
position (AA) of stopcodon in wt / mu AA sequence 439 / 439
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 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 779
cDNA position
(for ins/del: last normal base / first normal base)		 995
gDNA position
(for ins/del: last normal base / first normal base)		 13317
chromosomal position
(for ins/del: last normal base / first normal base)		 65554101
original gDNA sequence snippet GGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTT
altered gDNA sequence snippet GGGAAGCAGCCTGATGCCCCGGAAGAAAAACCCCGACAGTT
original cDNA sequence snippet GGGAAGCAGCCTGATGCCCCAGAAGAAAAACCCCGACAGTT
altered cDNA sequence snippet GGGAAGCAGCCTGATGCCCCGGAAGAAAAACCCCGACAGTT
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 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 YSTGSSLMPR KKNPDSLELI RSKAGRVFGR CAGLLMTLKG LPSTYNKDLQ
EDKEAVFEVS DTMSAVLQVA TGVISTLQIH QENMGQALSP DMLATDLAYY LVRKGMPFRQ
AHEASGKAVF MAETKGVALN QLSLQELQTI SPLFSGDVIC VWDYGHSVEQ YGALGGTARS
SVDWQIRQVR ALLQAQQA*
speed 0.43 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