Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999996208 (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
 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 ENST00000321600
Genbank transcript ID NM_173629
UniProt peptide Q8N1N2
alteration type single base exchange
alteration region CDS
DNA changes c.565A>C
cDNA.611A>C
g.10321A>C
AA changes T189P Score: 38 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 189
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      189TVPASTATESTTSTATAATTSTEP
mutated  not conserved    189ASTATESTPSTATAATTSTE
Ptroglodytes  all identical  ENSPTRG00000010037  189ASTATETTTSTATAATTSTE
Mmulatta  all identical  ENSMMUG00000013356  187ASTATETTTSTATTATTSTE
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000024512  132ALPTTLPTFTTVMTSTSTEH
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
172207COMPBIASThr-rich.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 633 / 633
position (AA) of stopcodon in wt / mu AA sequence 211 / 211
position of stopcodon in wt / mu cDNA 679 / 679
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 47 / 47
chromosome 18
strand 1
last intron/exon boundary 347
theoretical NMD boundary in CDS 250
length of CDS 633
coding sequence (CDS) position 565
cDNA position
(for ins/del: last normal base / first normal base)		 611
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 MVADIKGNEQ IEKYSWREAC DTGSSRMDRK HGKYILNVEH SENQPPITHP NDQEAHSSIC
WCLPSNDITS DVSPNLTGVC VNPGILAHSR CLQSESCNTQ VKEYCRNDWS MWKVFLACLL
ACVIMTAIGV LIICLVNNKG SANSSIVIQL STNDGECVTV KPGTPSPACP PTMTTTSTVP
ASTATESTTS TATAATTSTE PITVAPTDHL *
mutated AA sequence MVADIKGNEQ IEKYSWREAC DTGSSRMDRK HGKYILNVEH SENQPPITHP NDQEAHSSIC
WCLPSNDITS DVSPNLTGVC VNPGILAHSR CLQSESCNTQ VKEYCRNDWS MWKVFLACLL
ACVIMTAIGV LIICLVNNKG SANSSIVIQL STNDGECVTV KPGTPSPACP PTMTTTSTVP
ASTATESTPS TATAATTSTE PITVAPTDHL *
speed 0.85 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