Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999203059 (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) chr6:32632637T>GN/A show variant in all transcripts   IGV
HGNC symbol HLA-DQB1
Ensembl transcript ID ENST00000374943
Genbank transcript ID NM_001243961
UniProt peptide P01920
alteration type single base exchange
alteration region CDS
DNA changes c.317A>C
cDNA.394A>C
g.3524A>C
AA changes E106A Score: 107 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 106
frameshift no
known variant Reference ID: rs1130387
databasehomozygous (G/G)heterozygousallele carriers
1000G---
ExAC138582359620
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0640.003
0.0740.001
(flanking)-0.3540.001
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 63
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      106SQKEVLEGTRAELDTVCRHNYEVA
mutated  not conserved    106SQKEVLEGTRAALDTVCRHNYEV
Ptroglodytes  all identical  ENSPTRG00000018018  106SQKEVLERTRAELDTVCRHNYQL
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000073421  101SQPEILERTRAELDTVCRHNYEG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000079105  91KDQAYLHQLKAQVDTFCRHNAQI
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
33126REGIONBeta-1.lost
33230TOPO_DOMExtracellular (Potential).lost
97109HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 810 / 810
position (AA) of stopcodon in wt / mu AA sequence 270 / 270
position of stopcodon in wt / mu cDNA 887 / 887
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 78 / 78
chromosome 6
strand -1
last intron/exon boundary 874
theoretical NMD boundary in CDS 746
length of CDS 810
coding sequence (CDS) position 317
cDNA position
(for ins/del: last normal base / first normal base)		 394
gDNA position
(for ins/del: last normal base / first normal base)		 3524
chromosomal position
(for ins/del: last normal base / first normal base)		 32632637
original gDNA sequence snippet CCTGGAGGGGACCCGGGCGGAGTTGGACACGGTGTGCAGAC
altered gDNA sequence snippet CCTGGAGGGGACCCGGGCGGCGTTGGACACGGTGTGCAGAC
original cDNA sequence snippet CCTGGAGGGGACCCGGGCGGAGTTGGACACGGTGTGCAGAC
altered cDNA sequence snippet CCTGGAGGGGACCCGGGCGGCGTTGGACACGGTGTGCAGAC
wildtype AA sequence MSWKKALRIP GDLRVATVTL MLAMLSSLLA EGRDSPEDFV FQFKGMCYFT NGTERVRLVT
RYIYNREEYA RFDSDVGVYR AVTPQGRPDA EYWNSQKEVL EGTRAELDTV CRHNYEVAFR
GILQRRVEPT VTISPSRTEA LNHHNLLVCS VTDFYPGQIK VRWFRNDQEE TAGVVSTPLI
RNGDWTFQIL VMLEMTPQRG DVYTCHVEHP SLQSPITVEW RAQSESAQSK MLSGVGGFVL
GLIFLGLGLI IRQRSQKGPQ GPPPAGLLH*
mutated AA sequence MSWKKALRIP GDLRVATVTL MLAMLSSLLA EGRDSPEDFV FQFKGMCYFT NGTERVRLVT
RYIYNREEYA RFDSDVGVYR AVTPQGRPDA EYWNSQKEVL EGTRAALDTV CRHNYEVAFR
GILQRRVEPT VTISPSRTEA LNHHNLLVCS VTDFYPGQIK VRWFRNDQEE TAGVVSTPLI
RNGDWTFQIL VMLEMTPQRG DVYTCHVEHP SLQSPITVEW RAQSESAQSK MLSGVGGFVL
GLIFLGLGLI IRQRSQKGPQ GPPPAGLLH*
speed 1.12 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