Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 7.59114647580872e-13 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:74076415G>AN/A show variant in all transcripts   IGV
HGNC symbol ZACN
Ensembl transcript ID ENST00000392503
Genbank transcript ID N/A
UniProt peptide Q401N2
alteration type single base exchange
alteration region intron
DNA changes g.8374G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2257020
databasehomozygous (A/A)heterozygousallele carriers
1000G94011502090
ExAC22373-1197910394
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1150.969
1.3390.986
(flanking)1.9550.988
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 increased8380wt: 0.4083 / mu: 0.4350 (marginal change - not scored)wt: TCAACCTGGCCCTCGCCACGGAGACCAACTGCAACTTTGAG
mu: TCAACCTGGCCCTCACCACGGAGACCAACTGCAACTTTGAG		 acgg|AGAC
Donor increased8378wt: 0.40 / mu: 0.72wt: CGCCACGGAGACCAA
mu: CACCACGGAGACCAA		 CCAC|ggag
Donor increased8376wt: 0.55 / mu: 0.81wt: CTCGCCACGGAGACC
mu: CTCACCACGGAGACC		 CGCC|acgg
Donor increased8379wt: 0.26 / mu: 0.47wt: GCCACGGAGACCAAC
mu: ACCACGGAGACCAAC		 CACG|gaga
distance from splice site 406
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
26233TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
9999CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
157157DISULFIDBy similarity.might get lost (downstream of altered splice site)
170170CARBOHYDN-linked (GlcNAc...) (Potential). /FTId=PRO_5000052473.might get lost (downstream of altered splice site)
171171DISULFIDBy similarity.might get lost (downstream of altered splice site)
224318COMPBIASLeu-rich.might get lost (downstream of altered splice site)
234254TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
255265TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
266286TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
287298TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
299319TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
320368TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
369389TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
390412TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 84 / 84
chromosome 17
strand 1
last intron/exon boundary 306
theoretical NMD boundary in CDS 172
length of CDS 381
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 8374
chromosomal position
(for ins/del: last normal base / first normal base)		 74076415
original gDNA sequence snippet TGAAGCTCAACCTGGCCCTCGCCACGGAGACCAACTGCAAC
altered gDNA sequence snippet TGAAGCTCAACCTGGCCCTCACCACGGAGACCAACTGCAAC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MMALWSLLHL TFLGFSITLL LVHGQGFQGT AAIWPSLFNV NLSKKVQESI QIPNNGSAPL
LVDVRVFVSN VFNVSSVLPR ATALHSHGDC SGSAPCSKAR GSGCHGLTPG NHLKVQPPCI
NPSGDI*
mutated AA sequence N/A
speed 0.54 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