Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM900035)
  • known disease mutation: rs6327 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:133364851G>AN/A show variant in all transcripts   IGV
HGNC symbol ASS1
Ensembl transcript ID ENST00000334909
Genbank transcript ID NM_000050
UniProt peptide P00966
alteration type single base exchange
alteration region CDS
DNA changes c.970G>A
cDNA.1326G>A
g.44758G>A
AA changes G324S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 324
frameshift no
known variant Reference ID: rs121908639
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC066

known disease mutation: rs6327 (pathogenic for Citrullinemia type I) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM900035)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900035)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900035)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.0290.016
5.4531
(flanking)5.4531
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost44757sequence motif lost- wt: ACCG|gtgc
 mu: ACCA.gtgc
Donor decreased44757wt: 0.99 / mu: 0.47wt: TATACCGGTGCGTAA
mu: TATACCAGTGCGTAA		 TACC|ggtg
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      324LGLKFAELVYTGFWHSPECEFVRH
mutated  not conserved    324LGLKFAELVYTSFWHSPECEFVR
Ptroglodytes  all identical  ENSPTRG00000021473  324LGLKFAELVYTGFWHSPECEFVR
Mmulatta  all identical  ENSMMUG00000019199  324LGLKFAELVYTGFWHSPECEFVR
Fcatus  no alignment  ENSFCAG00000005111  n/a
Mmusculus  all identical  ENSMUSG00000046687  324LGLKFAELVYTGFWHSPECEFVR
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000018657  323LGIKFSELVYNGFWYSPECEFVR
Drerio  all identical  ENSDARG00000032564  184IYNGFWFSPECEFVR
Dmelanogaster  all identical  FBgn0026565  324LRDRMADYVYNGFWFSPEAIYAR
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000001347  326LSQRFAEQIYNGFWYSPECEFVR
protein features
start (aa)end (aa)featuredetails 
304323HELIXmight get lost (downstream of altered splice site)
325327CONFLICTFWH -> LRP (in Ref. 1; CAA25771 and 2; AAA51783).might get lost (downstream of altered splice site)
326328STRANDmight get lost (downstream of altered splice site)
329341HELIXmight get lost (downstream of altered splice site)
342344TURNmight get lost (downstream of altered splice site)
347354STRANDmight get lost (downstream of altered splice site)
352352MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
357364STRANDmight get lost (downstream of altered splice site)
372375HELIXmight get lost (downstream of altered splice site)
385404HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1239 / 1239
position (AA) of stopcodon in wt / mu AA sequence 413 / 413
position of stopcodon in wt / mu cDNA 1595 / 1595
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 357 / 357
chromosome 9
strand 1
last intron/exon boundary 1550
theoretical NMD boundary in CDS 1143
length of CDS 1239
coding sequence (CDS) position 970
cDNA position
(for ins/del: last normal base / first normal base)		 1326
gDNA position
(for ins/del: last normal base / first normal base)		 44758
chromosomal position
(for ins/del: last normal base / first normal base)		 133364851
original gDNA sequence snippet TTGCTGAGCTGGTGTATACCGGTGCGTAAGACTCTATGGCT
altered gDNA sequence snippet TTGCTGAGCTGGTGTATACCAGTGCGTAAGACTCTATGGCT
original cDNA sequence snippet TTGCTGAGCTGGTGTATACCGGTTTCTGGCACAGCCCTGAG
altered cDNA sequence snippet TTGCTGAGCTGGTGTATACCAGTTTCTGGCACAGCCCTGAG
wildtype AA sequence MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF
IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR KQVEIAQREG AKYVSHGATG
KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS
MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD
GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF
TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI
LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK*
mutated AA sequence MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF
IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR KQVEIAQREG AKYVSHGATG
KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS
MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD
GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF
TMDREVRKIK QGLGLKFAEL VYTSFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI
LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK*
speed 0.92 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