Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.949507179291536 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:160132089T>GN/A show variant in all transcripts   IGV
HGNC symbol WDSUB1
Ensembl transcript ID ENST00000358147
Genbank transcript ID N/A
UniProt peptide Q8N9V3
alteration type single base exchange
alteration region CDS
DNA changes c.644A>C
cDNA.789A>C
g.11222A>C
AA changes K215T Score: 78 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 215
frameshift no
known variant Reference ID: rs16843852
databasehomozygous (G/G)heterozygousallele carriers
1000G165693858
ExAC1332959710929
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8830.996
1.9571
(flanking)4.4771
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 33
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      215RLASCGQDCQVKIWIVSFTHILAR
mutated  not conserved    215RLASCGQDCQVTIWIVSFTHILA
Ptroglodytes  not conserved  ENSPTRG00000012562  307-LATGSMDKTVNIWQFDLETLCQA
Mmulatta  not conserved  ENSMMUG00000006181  311-LATGSMDKTVNIWQFDLETLCQA
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000026988  309-LATGSMDKTVNIWQFDLETPCQ
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000005814  309-VATGSMDRSVKVWRIGDVASSPGKKP
Drerio  all identical  ENSDARG00000090418  216RLASCGQDSLLKIWIVS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000007589  304DKTVTIWKLGHSDELP
protein features
start (aa)end (aa)featuredetails 
178228REPEATWD 5.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1155 / 1155
position (AA) of stopcodon in wt / mu AA sequence 385 / 385
position of stopcodon in wt / mu cDNA 1300 / 1300
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 146 / 146
chromosome 2
strand -1
last intron/exon boundary 1143
theoretical NMD boundary in CDS 947
length of CDS 1155
coding sequence (CDS) position 644
cDNA position
(for ins/del: last normal base / first normal base)		 789
gDNA position
(for ins/del: last normal base / first normal base)		 11222
chromosomal position
(for ins/del: last normal base / first normal base)		 160132089
original gDNA sequence snippet TGGTCAGGATTGCCAAGTCAAAATTTGGATTGTTTCTTTTA
altered gDNA sequence snippet TGGTCAGGATTGCCAAGTCACAATTTGGATTGTTTCTTTTA
original cDNA sequence snippet TGGTCAGGATTGCCAAGTCAAAATTTGGATTGTTTCTTTTA
altered cDNA sequence snippet TGGTCAGGATTGCCAAGTCACAATTTGGATTGTTTCTTTTA
wildtype AA sequence MVKLIHTLAD HGDDVNCCAF SFSLLATCSL DKTIRLYSLR DFTELPHSPL KFHTYAVHCC
CFSPSGHILA SCSTDGTTVL WNTENGQMLA VMEQPSGSPV RVCQFSPDST CLASGAADGT
VVLWNAQSYK LYRCGSVKDG SLAACAFSPN GSFFVTGSSC GDLTVWDDKM RCPHSEKAHD
LGITCCDFSS QPVSDGEQGL QFFRLASCGQ DCQVKIWIVS FTHILARRTE HQLKQFTEDW
SEEDVSTWLC AQDLKDLVGI FKMNNIDGKE LLNLTKESLA DDLKIESLGL RSKVLRKIEE
LRTKVKSLSS GIPDEFICPI TRELMKDPVI ASDGYSYEKE AMENWISKKK RTSPMTNLVL
PSAVLTPNRT LKMAINRWLE THQK*
mutated AA sequence MVKLIHTLAD HGDDVNCCAF SFSLLATCSL DKTIRLYSLR DFTELPHSPL KFHTYAVHCC
CFSPSGHILA SCSTDGTTVL WNTENGQMLA VMEQPSGSPV RVCQFSPDST CLASGAADGT
VVLWNAQSYK LYRCGSVKDG SLAACAFSPN GSFFVTGSSC GDLTVWDDKM RCPHSEKAHD
LGITCCDFSS QPVSDGEQGL QFFRLASCGQ DCQVTIWIVS FTHILARRTE HQLKQFTEDW
SEEDVSTWLC AQDLKDLVGI FKMNNIDGKE LLNLTKESLA DDLKIESLGL RSKVLRKIEE
LRTKVKSLSS GIPDEFICPI TRELMKDPVI ASDGYSYEKE AMENWISKKK RTSPMTNLVL
PSAVLTPNRT LKMAINRWLE THQK*
speed 0.80 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