Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999984794 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:52265308A>CN/A show variant in all transcripts   IGV
HGNC symbol DYNAP
Ensembl transcript ID ENST00000585973
Genbank transcript ID N/A
UniProt peptide Q8N1N2
alteration type single base exchange
alteration region CDS
DNA changes c.409A>C
cDNA.500A>C
g.10321A>C
AA changes T137P Score: 38 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 137
frameshift no
known variant Reference ID: rs9947055
databasehomozygous (C/C)heterozygousallele carriers
1000G75211841936
ExAC17567-236715200
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0450
-0.2170
(flanking)0.8470.001
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 265
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      137TVPASTATESTTSTATAATTSTEP
mutated  not conserved    137TVPASTATESTPSTATAATTSTE
Ptroglodytes  all identical  ENSPTRG00000010037  189TVPASTATETTTSTATAATTSTE
Mmulatta  all identical  ENSMMUG00000013356  187ETTTSTATTATTSTE
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000024512  140ALPTTLPTFTTVMTSTSTEHDVE
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 477 / 477
position (AA) of stopcodon in wt / mu AA sequence 159 / 159
position of stopcodon in wt / mu cDNA 568 / 568
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 92 / 92
chromosome 18
strand 1
last intron/exon boundary 236
theoretical NMD boundary in CDS 94
length of CDS 477
coding sequence (CDS) position 409
cDNA position
(for ins/del: last normal base / first normal base)		 500
gDNA position
(for ins/del: last normal base / first normal base)		 10321
chromosomal position
(for ins/del: last normal base / first normal base)		 52265308
original gDNA sequence snippet GTACAGCCACTGAATCTACAACTTCAACAGCTACAGCTGCC
altered gDNA sequence snippet GTACAGCCACTGAATCTACACCTTCAACAGCTACAGCTGCC
original cDNA sequence snippet GTACAGCCACTGAATCTACAACTTCAACAGCTACAGCTGCC
altered cDNA sequence snippet GTACAGCCACTGAATCTACACCTTCAACAGCTACAGCTGCC
wildtype AA sequence MEYQLLDIKG NEQIEKYSWR EACDTGSSRM DRKHGKYILN VEHSENQPVK EYCRNDWSMW
KVFLACLLAC VIMTAIGVLI ICLVNNKGSA NSSIVIQLST NDGECVTVKP GTPSPACPPT
MTTTSTVPAS TATESTTSTA TAATTSTEPI TVAPTDHL*
mutated AA sequence MEYQLLDIKG NEQIEKYSWR EACDTGSSRM DRKHGKYILN VEHSENQPVK EYCRNDWSMW
KVFLACLLAC VIMTAIGVLI ICLVNNKGSA NSSIVIQLST NDGECVTVKP GTPSPACPPT
MTTTSTVPAS TATESTPSTA TAATTSTEPI TVAPTDHL*
speed 0.92 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