Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.000157211204979151 (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) chr3:186301703A>GN/A show variant in all transcripts   IGV
HGNC symbol DNAJB11
Ensembl transcript ID ENST00000439351
Genbank transcript ID NM_016306
UniProt peptide Q9UBS4
alteration type single base exchange
alteration region CDS
DNA changes c.790A>G
cDNA.1719A>G
g.16512A>G
AA changes I264V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 264
frameshift no
known variant Reference ID: rs8147
databasehomozygous (G/G)heterozygousallele carriers
1000G2849161200
ExAC33941966723061
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3560.941
0.6810.971
(flanking)4.6991
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 50
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      264RRGDDLYTNVTISLVESLVGFEMD
mutated  all conserved    264RRGDDLYTNVTVSLVESLVGFEM
Ptroglodytes  all identical  ENSPTRG00000015713  264RRGDDLYTNVTISLVESLVGFEM
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000004460  264RRGDDLYTNVTVSLVEALVGFEM
Ggallus  all identical  ENSGALG00000006564  270RRGDDLYTNVTISLVEALTGFEM
Trubripes  all identical  ENSTRUG00000015340  266RRGDDLYTNVTISLVEALVGFEM
Drerio  all identical  ENSDARG00000015088  266RRGDDLYTNVTISLVEALVGFEM
Dmelanogaster  all identical  FBgn0031256  263RKNDDLYTNVTISLQDALVGFSM
Celegans  all identical  T15H9.7  263KGDDLYTNVTISLQDALNGFEM
Xtropicalis  all identical  ENSXETG00000004660  266RRGDDLYTNVSISLVEALTGFEM
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1077 / 1077
position (AA) of stopcodon in wt / mu AA sequence 359 / 359
position of stopcodon in wt / mu cDNA 2006 / 2006
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 930 / 930
chromosome 3
strand 1
last intron/exon boundary 1942
theoretical NMD boundary in CDS 962
length of CDS 1077
coding sequence (CDS) position 790
cDNA position
(for ins/del: last normal base / first normal base)		 1719
gDNA position
(for ins/del: last normal base / first normal base)		 16512
chromosomal position
(for ins/del: last normal base / first normal base)		 186301703
original gDNA sequence snippet ATTTGTACACAAATGTGACAATCTCATTAGTTGAGTCACTG
altered gDNA sequence snippet ATTTGTACACAAATGTGACAGTCTCATTAGTTGAGTCACTG
original cDNA sequence snippet ATTTGTACACAAATGTGACAATCTCATTAGTTGAGTCACTG
altered cDNA sequence snippet ATTTGTACACAAATGTGACAGTCTCATTAGTTGAGTCACTG
wildtype AA sequence MAPQNLSTFC LLLLYLIGAV IAGRDFYKIL GVPRSASIKD IKKAYRKLAL QLHPDRNPDD
PQAQEKFQDL GAAYEVLSDS EKRKQYDTYG EEGLKDGHQS SHGDIFSHFF GDFGFMFGGT
PRQQDRNIPR GSDIIVDLEV TLEEVYAGNF VEVVRNKPVA RQAPGKRKCN CRQEMRTTQL
GPGRFQMTQE VVCDECPNVK LVNEERTLEV EIEPGVRDGM EYPFIGEGEP HVDGEPGDLR
FRIKVVKHPI FERRGDDLYT NVTISLVESL VGFEMDITHL DGHKVHISRD KITRPGAKLW
KKGEGLPNFD NNNIKGSLII TFDVDFPKEQ LTEEAREGIK QLLKQGSVQK VYNGLQGY*
mutated AA sequence MAPQNLSTFC LLLLYLIGAV IAGRDFYKIL GVPRSASIKD IKKAYRKLAL QLHPDRNPDD
PQAQEKFQDL GAAYEVLSDS EKRKQYDTYG EEGLKDGHQS SHGDIFSHFF GDFGFMFGGT
PRQQDRNIPR GSDIIVDLEV TLEEVYAGNF VEVVRNKPVA RQAPGKRKCN CRQEMRTTQL
GPGRFQMTQE VVCDECPNVK LVNEERTLEV EIEPGVRDGM EYPFIGEGEP HVDGEPGDLR
FRIKVVKHPI FERRGDDLYT NVTVSLVESL VGFEMDITHL DGHKVHISRD KITRPGAKLW
KKGEGLPNFD NNNIKGSLII TFDVDFPKEQ LTEEAREGIK QLLKQGSVQK VYNGLQGY*
speed 1.10 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