Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 7.52170460255001e-08 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM1213373)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:77793207G>AN/A show variant in all transcripts   IGV
HGNC symbol GSTZ1
Ensembl transcript ID ENST00000216465
Genbank transcript ID NM_145870
UniProt peptide O43708
alteration type single base exchange
alteration region CDS
DNA changes c.94G>A
cDNA.379G>A
g.5981G>A
AA changes E32K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 32
frameshift no
known variant Reference ID: rs7975
databasehomozygous (A/A)heterozygousallele carriers
1000G26010401300
ExAC51242251927643

known disease mutation at this position, please check HGMD for details (HGMD ID CM1213373)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9051
4.5721
(flanking)3.7830.994
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased5977wt: 0.32 / mu: 0.93wt: ATCGACTACGAGACG
mu: ATCGACTACAAGACG		 CGAC|tacg
distance from splice site 27
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      32RIALALKGIDYETVPINLIKDGGQ
mutated  all conserved    32RIALALKGIDYKTVPINLIKDGG
Ptroglodytes  all identical  ENSPTRG00000038857  32RIALALKGIDYETVPINLIKDGG
Mmulatta  all identical  ENSMMUG00000001097  32RIALALKGIDYETVPINLIKDGG
Fcatus  all identical  ENSFCAG00000011729  27RIALALKSIDYETIPINLIKDGG
Mmusculus  all identical  ENSMUSG00000021033  32RIALALKGIDYEIVPINLIKDGG
Ggallus  all conserved  ENSGALG00000010432  36RIALALKGIAYDQVPVNLVKDGG
Trubripes  all conserved  ENSTRUG00000018231  30RIAFALKGVEFDQVAVNLIKDGG
Drerio  all identical  ENSDARG00000027984  33RIAFALKGIEYEQKPINLIKDGG
Dmelanogaster  all conserved  FBgn0037696  60RVALAIKKIDYDIKPTSLLKTVSG
Celegans  all identical  D1053.1  32RIALALKNVDYEYKTVDLLSEEA
Xtropicalis  all conserved  ENSXETG00000011079  33RIALAFKGIEYDQQVINLVKDGG
protein features
start (aa)end (aa)featuredetails 
487DOMAINGST N-terminal.lost
3232MOD_RESN6-acetyllysine.lost
3235STRANDlost
4446HELIXmight get lost (downstream of altered splice site)
4545BINDINGGlutathione.might get lost (downstream of altered splice site)
4853HELIXmight get lost (downstream of altered splice site)
5959BINDINGGlutathione; via amide nitrogen and carbonyl oxygen.might get lost (downstream of altered splice site)
6164STRANDmight get lost (downstream of altered splice site)
6771STRANDmight get lost (downstream of altered splice site)
7172REGIONGlutathione binding.might get lost (downstream of altered splice site)
7282HELIXmight get lost (downstream of altered splice site)
92212DOMAINGST C-terminal.might get lost (downstream of altered splice site)
93109HELIXmight get lost (downstream of altered splice site)
111111BINDINGGlutathione.might get lost (downstream of altered splice site)
111114HELIXmight get lost (downstream of altered splice site)
115117REGIONGlutathione binding.might get lost (downstream of altered splice site)
116122HELIXmight get lost (downstream of altered splice site)
124149HELIXmight get lost (downstream of altered splice site)
150156STRANDmight get lost (downstream of altered splice site)
161175HELIXmight get lost (downstream of altered splice site)
184194HELIXmight get lost (downstream of altered splice site)
197199HELIXmight get lost (downstream of altered splice site)
200202TURNmight get lost (downstream of altered splice site)
204206HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 651 / 651
position (AA) of stopcodon in wt / mu AA sequence 217 / 217
position of stopcodon in wt / mu cDNA 936 / 936
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 286 / 286
chromosome 14
strand 1
last intron/exon boundary 810
theoretical NMD boundary in CDS 474
length of CDS 651
coding sequence (CDS) position 94
cDNA position
(for ins/del: last normal base / first normal base)		 379
gDNA position
(for ins/del: last normal base / first normal base)		 5981
chromosomal position
(for ins/del: last normal base / first normal base)		 77793207
original gDNA sequence snippet CCTTGAAAGGCATCGACTACGAGACGGTGCCCATCAATCTC
altered gDNA sequence snippet CCTTGAAAGGCATCGACTACAAGACGGTGCCCATCAATCTC
original cDNA sequence snippet CCTTGAAAGGCATCGACTACGAGACGGTGCCCATCAATCTC
altered cDNA sequence snippet CCTTGAAAGGCATCGACTACAAGACGGTGCCCATCAATCTC
wildtype AA sequence MQAGKPILYS YFRSSCSWRV RIALALKGID YETVPINLIK DGGQQFSKDF QALNPMKQVP
TLKIDGITIH QSLAIIEYLE EMRPTPRLLP QDPKKRASVR MISDLIAGGI QPLQNLSVLK
QVGEEMQLTW AQNAITCGFN ALEQILQSTA GIYCVGDEVT MADLCLVPQV ANAERFKVDL
TPYPTISSIN KRLLVLEAFQ VSHPCRQPDT PTELRA*
mutated AA sequence MQAGKPILYS YFRSSCSWRV RIALALKGID YKTVPINLIK DGGQQFSKDF QALNPMKQVP
TLKIDGITIH QSLAIIEYLE EMRPTPRLLP QDPKKRASVR MISDLIAGGI QPLQNLSVLK
QVGEEMQLTW AQNAITCGFN ALEQILQSTA GIYCVGDEVT MADLCLVPQV ANAERFKVDL
TPYPTISSIN KRLLVLEAFQ VSHPCRQPDT PTELRA*
speed 1.01 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