Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999922611884 (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) chr19:36002381C>TN/A show variant in all transcripts   IGV
HGNC symbol DMKN
Ensembl transcript ID ENST00000429837
Genbank transcript ID NM_001190347
UniProt peptide Q6E0U4
alteration type single base exchange
alteration region intron
DNA changes g.2180G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
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 284
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
17344COMPBIASGly-rich.might get lost (downstream of altered splice site)
254259STRANDmight get lost (downstream of altered splice site)
271271CONFLICTMissing (in Ref. 3; ABN11273/ABN11274).might get lost (downstream of altered splice site)
279279CONFLICTG -> GSSSG (in Ref. 4; AAQ88778).might get lost (downstream of altered splice site)
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 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 7 / 7
chromosome 19
strand -1
last intron/exon boundary 1357
theoretical NMD boundary in CDS 1300
length of CDS 1350
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)		 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 N/A
altered cDNA sequence snippet N/A
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
SSNSGGSSTG SSSGNHGGSG GGNGHKPGCE KPGNEARGSG ESGIQGQGSS WGSGGGDAVG
GVNTVNSETS PGMFNFDTFW KNFKSKLGFI NWDAINKNQV PPPSTRALLY FSRLWEDFKQ
NTPFLNWKAI IEGADASSLQ KRAGRDDQPG AGWQEVAAVT SKNYNYNQHA YPTAYGGKYS
VKTPAKGGVS PSSSASRVQP GLLQWVKFW*
mutated AA sequence N/A
speed 0.51 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