Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999890203155 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM900034)
  • known disease mutation: rs6330 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:133364791C>TN/A show variant in all transcripts   IGV
HGNC symbol ASS1
Ensembl transcript ID ENST00000372393
Genbank transcript ID N/A
UniProt peptide P00966
alteration type single base exchange
alteration region CDS
DNA changes c.910C>T
cDNA.983C>T
g.44698C>T
AA changes R304W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 304
frameshift no
known variant Reference ID: rs121908642
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC055

known disease mutation: rs6330 (pathogenic for Citrullinemia type I|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM900034)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900034)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900034)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1440.998
3.5331
(flanking)3.5481
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 61
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      304AHLDIEAFTMDREVRKIKQGLGLK
mutated  not conserved    304TMDWEVRKIKQGLGL
Ptroglodytes  all identical  ENSPTRG00000021473  304TMDREVRKIKQGLGL
Mmulatta  all identical  ENSMMUG00000019199  304TMDREVRKIKQGLGL
Fcatus  all identical  ENSFCAG00000005111  303TMDREVRKIKQGLGL
Mmusculus  all identical  ENSMUSG00000046687  304TMDREVRKIKQGLGL
Ggallus  no homologue    
Trubripes  all conserved  ENSTRUG00000018657  303DKEVRRIKQGLGI
Drerio  all identical  ENSDARG00000032564  164AHLDIETFTMDREVRKIKQSLGI
Dmelanogaster  all identical  FBgn0026565  304DREVLRTKQVLRD
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000001347  306MDREVRKIKQHLSQ
protein features
start (aa)end (aa)featuredetails 
304323HELIXlost
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 1312 / 1312
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 74 / 74
chromosome 9
strand 1
last intron/exon boundary 1267
theoretical NMD boundary in CDS 1143
length of CDS 1239
coding sequence (CDS) position 910
cDNA position
(for ins/del: last normal base / first normal base)		 983
gDNA position
(for ins/del: last normal base / first normal base)		 44698
chromosomal position
(for ins/del: last normal base / first normal base)		 133364791
original gDNA sequence snippet TCGAGGCCTTCACCATGGACCGGGAAGTGCGCAAAATCAAA
altered gDNA sequence snippet TCGAGGCCTTCACCATGGACTGGGAAGTGCGCAAAATCAAA
original cDNA sequence snippet TCGAGGCCTTCACCATGGACCGGGAAGTGCGCAAAATCAAA
altered cDNA sequence snippet TCGAGGCCTTCACCATGGACTGGGAAGTGCGCAAAATCAAA
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
TMDWEVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI
LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK*
speed 1.02 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