Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999982932316 (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) chr6:32629755G>AN/A show variant in all transcripts   IGV
HGNC symbol HLA-DQB1
Ensembl transcript ID ENST00000399079
Genbank transcript ID N/A
UniProt peptide P01920
alteration type single base exchange
alteration region CDS
DNA changes c.650C>T
cDNA.707C>T
g.6406C>T
AA changes T217I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 217
frameshift no
known variant Reference ID: rs1130399
databasehomozygous (A/A)heterozygousallele carriers
1000G1898961085
ExAC35611885822419
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
PolII, Polymerase, RNA Polymerase II
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.240.002
0.1530.006
(flanking)0.2260.022
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6407wt: 0.9821 / mu: 0.9867 (marginal change - not scored)wt: ATCACCGTGGAGTGG
mu: ATCATCGTGGAGTGG		 CACC|gtgg
distance from splice site 12
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      217HVEHPSLQSPITVEWRLLH*
mutated  not conserved    217HVEHPSLQSPIIVEWRLLH
Ptroglodytes  all identical  ENSPTRG00000018018  217HVEHPSLQNPITVEWR
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000073421  213HVEHPSLKSPITVEWR
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000079105  202LVEHASLTQPLTKDW
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
33230TOPO_DOMExtracellular (Potential).lost
127220REGIONBeta-2.lost
129233DOMAINIg-like C1-type.lost
216220STRANDlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 675 / 675
position (AA) of stopcodon in wt / mu AA sequence 225 / 225
position of stopcodon in wt / mu cDNA 732 / 732
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 58 / 58
chromosome 6
strand -1
last intron/exon boundary 719
theoretical NMD boundary in CDS 611
length of CDS 675
coding sequence (CDS) position 650
cDNA position
(for ins/del: last normal base / first normal base)		 707
gDNA position
(for ins/del: last normal base / first normal base)		 6406
chromosomal position
(for ins/del: last normal base / first normal base)		 32629755
original gDNA sequence snippet CAGCCTCCAGAGCCCCATCACCGTGGAGTGGCGTAAGGGGA
altered gDNA sequence snippet CAGCCTCCAGAGCCCCATCATCGTGGAGTGGCGTAAGGGGA
original cDNA sequence snippet CAGCCTCCAGAGCCCCATCACCGTGGAGTGGCGGCTTCTGC
altered cDNA sequence snippet CAGCCTCCAGAGCCCCATCATCGTGGAGTGGCGGCTTCTGC
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 RLLH*
mutated AA sequence MSWKKALRIP GDLRVATVTL MLAMLSSLLA EGRDSPEDFV FQFKGMCYFT NGTERVRLVT
RYIYNREEYA RFDSDVGVYR AVTPQGRPDA EYWNSQKEVL EGTRAELDTV CRHNYEVAFR
GILQRRVEPT VTISPSRTEA LNHHNLLVCS VTDFYPGQIK VRWFRNDQEE TAGVVSTPLI
RNGDWTFQIL VMLEMTPQRG DVYTCHVEHP SLQSPIIVEW RLLH*
speed 0.83 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