Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999970926 (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) chr6:32632782G>AN/A show variant in all transcripts   IGV
HGNC symbol HLA-DQB1
Ensembl transcript ID ENST00000399084
Genbank transcript ID N/A
UniProt peptide P01920
alteration type single base exchange
alteration region CDS
DNA changes c.172C>T
cDNA.351C>T
g.3379C>T
AA changes L58F Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 58
frameshift no
known variant Reference ID: rs12722115
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC43891619120580
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)-2.2610
-3.0040
(flanking)0.0530.034
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      58CYFTNGTERVRLVTRYIYNREEYA
mutated  not conserved    58CYFTNGTERVRFVT
Ptroglodytes  all identical  ENSPTRG00000018018  58CYFTNGTERVRLVT
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000073421  54CYFTNGTQRIRYVTRYIYN
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000079105  46CFYSTSDYSDMVYLASYSFNKVVD
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
33126REGIONBeta-1.lost
33230TOPO_DOMExtracellular (Potential).lost
5564STRANDlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 786 / 786
position (AA) of stopcodon in wt / mu AA sequence 262 / 262
position of stopcodon in wt / mu cDNA 965 / 965
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 180 / 180
chromosome 6
strand -1
last intron/exon boundary 952
theoretical NMD boundary in CDS 722
length of CDS 786
coding sequence (CDS) position 172
cDNA position
(for ins/del: last normal base / first normal base)		 351
gDNA position
(for ins/del: last normal base / first normal base)		 3379
chromosomal position
(for ins/del: last normal base / first normal base)		 32632782
original gDNA sequence snippet ACGGGACGGAGCGCGTGCGTCTTGTGACCAGATACATCTAT
altered gDNA sequence snippet ACGGGACGGAGCGCGTGCGTTTTGTGACCAGATACATCTAT
original cDNA sequence snippet ACGGGACGGAGCGCGTGCGTCTTGTGACCAGATACATCTAT
altered cDNA sequence snippet ACGGGACGGAGCGCGTGCGTTTTGTGACCAGATACATCTAT
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 IRQRSQKGLL H*
mutated AA sequence MSWKKALRIP GDLRVATVTL MLAMLSSLLA EGRDSPEDFV FQFKGMCYFT NGTERVRFVT
RYIYNREEYA RFDSDVGVYR AVTPQGRPDA EYWNSQKEVL EGTRAELDTV CRHNYEVAFR
GILQRRVEPT VTISPSRTEA LNHHNLLVCS VTDFYPGQIK VRWFRNDQEE TAGVVSTPLI
RNGDWTFQIL VMLEMTPQRG DVYTCHVEHP SLQSPITVEW RAQSESAQSK MLSGVGGFVL
GLIFLGLGLI IRQRSQKGLL H*
speed 1.25 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