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 ENST00000374943
Genbank transcript ID NM_001243961
UniProt peptide P01920
alteration type single base exchange
alteration region CDS
DNA changes c.650C>T
cDNA.727C>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      217HVEHPSLQSPITVEWRAQSESAQS
mutated  not conserved    217HVEHPSLQSPIIVEWRAQSESAQ
Ptroglodytes  all identical  ENSPTRG00000018018  217HVEHPSLQNPITVEWRAQSESAQ
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000073421  213HVEHPSLKSPITVEWRAQSESAW
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000079105  202LVEHASLTQPLTKDWNPHISESDR
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 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 650
cDNA position
(for ins/del: last normal base / first normal base)		 727
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 CAGCCTCCAGAGCCCCATCACCGTGGAGTGGCGGGCTCAGT
altered cDNA sequence snippet CAGCCTCCAGAGCCCCATCATCGTGGAGTGGCGGGCTCAGT
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 EGTRAELDTV CRHNYEVAFR
GILQRRVEPT VTISPSRTEA LNHHNLLVCS VTDFYPGQIK VRWFRNDQEE TAGVVSTPLI
RNGDWTFQIL VMLEMTPQRG DVYTCHVEHP SLQSPIIVEW RAQSESAQSK MLSGVGGFVL
GLIFLGLGLI IRQRSQKGPQ GPPPAGLLH*
speed 1.01 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