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mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999986207 (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
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:36002381C>TN/A show variant in all transcripts   IGV
HGNC symbol DMKN
Ensembl transcript ID ENST00000418261
Genbank transcript ID NM_001126058
UniProt peptide Q6E0U4
alteration type single base exchange
alteration region CDS
DNA changes c.850G>A
cDNA.856G>A
g.2180G>A
AA changes G284S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 284
frameshift no
known variant Reference ID: rs12981076
databasehomozygous (T/T)heterozygousallele carriers
1000G2198581077
ExAC1112331244
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9810
-1.2330
(flanking)0.2620
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased2183wt: 0.56 / mu: 0.83wt: GCGGCAGCAGTGGTG
mu: GCAGCAGCAGTGGTG		 GGCA|gcag
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      284SSGSSSGGSSGGSSGGSSGNSGGS
mutated  not conserved    284SSGSSSGGSSGSSSGGSSGNSGG
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000019064  252WVERERGGACLGALGGSGSQSGG
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000060962  260NSGNSNSGNSGN
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0034011  79GGGQGGYGGGQGGYGGGQGGYGG
Celegans  not conserved  T17H7.1  527PGRRGSGGPGGRGQ
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
17344COMPBIASGly-rich.lost
378378CONFLICTK -> M (in Ref. 3; ABN11272).might get lost (downstream of altered splice site)
419419CONFLICTS -> L (in Ref. 3; ABN11272).might get lost (downstream of altered splice site)
450450CONFLICTT -> S (in Ref. 3; ABN11272).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1161 / 1161
position (AA) of stopcodon in wt / mu AA sequence 387 / 387
position of stopcodon in wt / mu cDNA 1167 / 1167
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 7 / 7
chromosome 19
strand -1
last intron/exon boundary 1141
theoretical NMD boundary in CDS 1084
length of CDS 1161
coding sequence (CDS) position 850
cDNA position
(for ins/del: last normal base / first normal base)		 856
gDNA position
(for ins/del: last normal base / first normal base)		 2180
chromosomal position
(for ins/del: last normal base / first normal base)		 36002381
original gDNA sequence snippet GCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAGT
altered gDNA sequence snippet GCAGTGGCGGCAGCAGTGGCAGCAGCAGTGGTGGCAGCAGT
original cDNA sequence snippet GCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAGT
altered cDNA sequence snippet GCAGTGGCGGCAGCAGTGGCAGCAGCAGTGGTGGCAGCAGT
wildtype AA sequence MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSEA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGGSGS QSGSSGSGSN GDNNNGSSSG GSSSGSSSGG SSGGSSGGSS GNSGGSRGDS
GSESSWGSST GSSSGNHGGS GGGNGHKPGC EKPGNEARGS GESGIQNSET SPGMFNFDTF
WKNFKSKLGF INWDAINKDQ RSSRIP*
mutated AA sequence MKFQGPLACL LLALCLGSGE AGPLQSGEES TGTNIGEALG HGLGDALSEG VGKAIGKEAG
GAAGSKVSEA LGQGTREAVG TGVRQVPGFG VADALGNRVG EAAHALGNTG HEIGRQAEDV
IRHGADAVRG SWQGVPGHNG AWETSGGHGI FGSQGGLGGQ GQGNPGGLGT PWVHGYPGNS
AGSFGMNPQG APWGQGGNGG PPNFGTNTQG AVAQPGYGSV RASNQNEGCT NPPPSGSGGG
SSNSGGGSGS QSGSSGSGSN GDNNNGSSSG GSSSGSSSGG SSGSSSGGSS GNSGGSRGDS
GSESSWGSST GSSSGNHGGS GGGNGHKPGC EKPGNEARGS GESGIQNSET SPGMFNFDTF
WKNFKSKLGF INWDAINKDQ RSSRIP*
speed 0.64 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