Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999962345268 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:133052616C>TN/A show variant in all transcripts   IGV
HGNC symbol VNN3
Ensembl transcript ID ENST00000423615
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.3289G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs4895943
databasehomozygous (T/T)heterozygousallele carriers
1000G11009432043
ExAC21193-961911574
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2840
-1.8930
(flanking)0.0270
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased3289wt: 0.21 / mu: 0.26wt: CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT
mu: CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT		 actg|TCAT
Acc gained32920.32mu: AGAGCTTTGCTATCACTATCATTCAGAATGCAATCAATATG atca|TTCA
distance from splice site 2776
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 1 / 1
chromosome 6
strand -1
last intron/exon boundary 893
theoretical NMD boundary in CDS 842
length of CDS 390
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)		 3289
chromosomal position
(for ins/del: last normal base / first normal base)		 133052616
original gDNA sequence snippet CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT
altered gDNA sequence snippet CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MIISHFPKCV AVFALLALSV GALDTFIAAV YEHAVILPNR TETPVSKEEA LLLMNKNIDV
LEKAVKLAAK QGAHIIVTPE DGIYGWIFTR ESIYPYLEDI PDPGVNWIPC RDPWREWNLR
PRSSQGVPL*
mutated AA sequence N/A
speed 0.87 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