Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999974396963651 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:32725619T>CN/A show variant in all transcripts   IGV
HGNC symbol HLA-DQB2
Ensembl transcript ID ENST00000411527
Genbank transcript ID NM_001198858
UniProt peptide P05538
alteration type single base exchange
alteration region intron
DNA changes g.5693A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs9276570
databasehomozygous (C/C)heterozygousallele carriers
1000G33319292262
ExAC34852579729282
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.1760.118
-1.0120.001
(flanking)-5.0320
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased5687wt: 0.29 / mu: 0.98wt: TGCTGAGTGGCATTG
mu: TGCTGAGTGGCGTTG		 CTGA|gtgg
distance from splice site 538
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
33229TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
127229REGIONBeta-2.might get lost (downstream of altered splice site)
128216DOMAINIg-like C1-type.might get lost (downstream of altered splice site)
230250TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
251268TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
266268CONFLICTLLH -> HLL (in Ref. 2; CAA60790).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 21 / 21
chromosome 6
strand -1
last intron/exon boundary 691
theoretical NMD boundary in CDS 620
length of CDS 684
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 5693
chromosomal position
(for ins/del: last normal base / first normal base)		 32725619
original gDNA sequence snippet AGAGCAAGATGCTGAGTGGCATTGGAGGCTTCGTGCTGGGG
altered gDNA sequence snippet AGAGCAAGATGCTGAGTGGCGTTGGAGGCTTCGTGCTGGGG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MALQIPGGFW AAAVTVMLVM LSTPVAEARD FPKDFLVQFK GMCYFTNGTE RVRGVARYIY
NREEYGRFDS DVGEFQAVTE LGRSIEDWNN YKDFLEQERA AVDKVCRHNY EAELRTTLQR
QVEPTVTISP SRTEALNHHN LLVCSVTDFY PAQIKVRWFR NDQEETAGVV STSLIRNGDW
TFQILVMLEI TPQRGDIYTC QVEHPSLQSP ITVEWRPRGP PPAGLLH*
mutated AA sequence N/A
speed 0.28 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