Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999995 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM063956)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:11986061T>CN/A show variant in all transcripts   IGV
HGNC symbol DKK3
Ensembl transcript ID ENST00000326932
Genbank transcript ID NM_013253
UniProt peptide Q9UBP4
alteration type single base exchange
alteration region CDS
DNA changes c.1003A>G
cDNA.1228A>G
g.45256A>G
AA changes R335G Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 335
frameshift no
known variant Reference ID: rs3206824
databasehomozygous (C/C)heterozygousallele carriers
1000G16557572412
ExAC---

known disease mutation at this position, please check HGMD for details (HGMD ID CM063956)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0420.042
-0.820
(flanking)-0.6910
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased45255wt: 0.45 / mu: 0.70wt: GCGCTGAGGGAGCCT
mu: GCGCTGGGGGAGCCT		 GCTG|aggg
distance from splice site 173
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      335LERSLTEEMALREPAAAAAALLGG
mutated  not conserved    335LERSLTEEMALGEPAAAAAALLG
Ptroglodytes  not conserved  ENSPTRG00000003368  335LERSLTEEMALGEPAAAAATLLG
Mmulatta  not conserved  ENSMMUG00000022862  335LERSLTEEMALGEPAAAAAALLR
Fcatus  not conserved  ENSFCAG00000000925  269RSLSVEMALGEP-GAASELLE
Mmusculus  not conserved  ENSMUSG00000030772  335LERSLAQEMAFEGPAPVES--LG
Ggallus  all conserved  ENSGALG00000005551  335GVKSEHDPAHDLFL
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000077630  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
338343COMPBIASPoly-Ala.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1053 / 1053
position (AA) of stopcodon in wt / mu AA sequence 351 / 351
position of stopcodon in wt / mu cDNA 1278 / 1278
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 226 / 226
chromosome 11
strand -1
last intron/exon boundary 1056
theoretical NMD boundary in CDS 780
length of CDS 1053
coding sequence (CDS) position 1003
cDNA position
(for ins/del: last normal base / first normal base)		 1228
gDNA position
(for ins/del: last normal base / first normal base)		 45256
chromosomal position
(for ins/del: last normal base / first normal base)		 11986061
original gDNA sequence snippet TGACTGAAGAGATGGCGCTGAGGGAGCCTGCGGCTGCCGCC
altered gDNA sequence snippet TGACTGAAGAGATGGCGCTGGGGGAGCCTGCGGCTGCCGCC
original cDNA sequence snippet TGACTGAAGAGATGGCGCTGAGGGAGCCTGCGGCTGCCGCC
altered cDNA sequence snippet TGACTGAAGAGATGGCGCTGGGGGAGCCTGCGGCTGCCGCC
wildtype AA sequence MQRLGATLLC LLLAAAVPTA PAPAPTATSA PVKPGPALSY PQEEATLNEM FREVEELMED
TQHKLRSAVE EMEAEEAAAK ASSEVNLANL PPSYHNETNT DTKVGNNTIH VHREIHKITN
NQTGQMVFSE TVITSVGDEE GRRSHECIID EDCGPSMYCQ FASFQYTCQP CRGQRMLCTR
DSECCGDQLC VWGHCTKMAT RGSNGTICDN QRDCQPGLCC AFQRGLLFPV CTPLPVEGEL
CHDPASRLLD LITWELEPDG ALDRCPCASG LLCQPHSHSL VYVCKPTFVG SRDQDGEILL
PREVPDEYEV GSFMEEVRQE LEDLERSLTE EMALREPAAA AAALLGGEEI *
mutated AA sequence MQRLGATLLC LLLAAAVPTA PAPAPTATSA PVKPGPALSY PQEEATLNEM FREVEELMED
TQHKLRSAVE EMEAEEAAAK ASSEVNLANL PPSYHNETNT DTKVGNNTIH VHREIHKITN
NQTGQMVFSE TVITSVGDEE GRRSHECIID EDCGPSMYCQ FASFQYTCQP CRGQRMLCTR
DSECCGDQLC VWGHCTKMAT RGSNGTICDN QRDCQPGLCC AFQRGLLFPV CTPLPVEGEL
CHDPASRLLD LITWELEPDG ALDRCPCASG LLCQPHSHSL VYVCKPTFVG SRDQDGEILL
PREVPDEYEV GSFMEEVRQE LEDLERSLTE EMALGEPAAA AAALLGGEEI *
speed 0.45 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