Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999986834 (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) chr19:58004346G>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF419
Ensembl transcript ID ENST00000347466
Genbank transcript ID NM_001098494
UniProt peptide Q96HQ0
alteration type single base exchange
alteration region CDS
DNA changes c.325G>C
cDNA.535G>C
g.5268G>C
AA changes E109Q Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 109
frameshift no
known variant Reference ID: rs2074076
databasehomozygous (C/C)heterozygousallele carriers
1000G12499862235
ExAC30851-289351916
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2790
0.0180.001
(flanking)0.3180.002
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased5271wt: 0.9398 / mu: 0.9662 (marginal change - not scored)wt: AAGAGGGCAGGGTCC
mu: AACAGGGCAGGGTCC		 GAGG|gcag
Donor increased5270wt: 0.74 / mu: 0.93wt: CAAGAGGGCAGGGTC
mu: CAACAGGGCAGGGTC		 AGAG|ggca
Donor marginally increased5269wt: 0.8666 / mu: 0.9397 (marginal change - not scored)wt: ACAAGAGGGCAGGGT
mu: ACAACAGGGCAGGGT		 AAGA|gggc
distance from splice site 123
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      109QHCGEKPLKRQEGRVPVLRSCKVH
mutated  all conserved    109QHCGEKPLKRQQGRVPVLRSCKV
Ptroglodytes  all identical  ENSPTRG00000011557  109QHCGEKPLKRQEGRVPVLRSCRV
Mmulatta  all identical  ENSMMUG00000014286  141QHCGEKSLKRQEGRVPVLRSCKV
Fcatus  all identical  ENSFCAG00000000014  141LLCGERSLRREEG----------
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all conserved  FBgn0032979  227KASKCINCGSSMLQQSKRKGPKQVRCES
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
203225ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
231253ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
259281ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
287309ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
315337ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
343365ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
371393ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
399421ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
427449ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
455477ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
483505ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1437 / 1437
position (AA) of stopcodon in wt / mu AA sequence 479 / 479
position of stopcodon in wt / mu cDNA 1647 / 1647
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 211 / 211
chromosome 19
strand 1
last intron/exon boundary 413
theoretical NMD boundary in CDS 152
length of CDS 1437
coding sequence (CDS) position 325
cDNA position
(for ins/del: last normal base / first normal base)		 535
gDNA position
(for ins/del: last normal base / first normal base)		 5268
chromosomal position
(for ins/del: last normal base / first normal base)		 58004346
original gDNA sequence snippet AGAAACCCTTAAAAAGACAAGAGGGCAGGGTCCCAGTTTTG
altered gDNA sequence snippet AGAAACCCTTAAAAAGACAACAGGGCAGGGTCCCAGTTTTG
original cDNA sequence snippet AGAAACCCTTAAAAAGACAAGAGGGCAGGGTCCCAGTTTTG
altered cDNA sequence snippet AGAAACCCTTAAAAAGACAACAGGGCAGGGTCCCAGTTTTG
wildtype AA sequence MAAAALRDPA QVPVAADLLT DHEEQGYVTF EDVAVYFSQE EWRLLDDAQR LLYRNVMLEN
FTLLASLGCW HGAEAEEAPE QIASVGLLSS NIQQHQKQHC GEKPLKRQEG RVPVLRSCKV
HLSEKSLQSR EVGKALLISS GVLKHQVTHT GEKSHRSSKS REAFHAGKRH YKCSECGKAF
GQKYLLVQHQ RLHAGKKTYE CSECGKLFRD MSNLFIHQIV HTGERPYGCS NCGKSFSRNA
HLIEHQRVHT GEKPFTCSEC GKAFRHNSTL VQHHKIHTGV RPYECSECGK LFSFNSSLMK
HQRIHTGERP YKCSECGKFY SHKSNLIKHW RVHTGERPYK CSDCGKFFTQ CSSLMQHQKV
HTGEKPFKCN ECGRFFRENS TLVRHQRVHT GAKPYECREC GKFFSQSSTL MQHRKVHIGE
KPFKCNECGR LFRENSSLVK HQRVHTGAKP YECRECGKFF RHNSSLFKHR RIHTGEMQ*
mutated AA sequence MAAAALRDPA QVPVAADLLT DHEEQGYVTF EDVAVYFSQE EWRLLDDAQR LLYRNVMLEN
FTLLASLGCW HGAEAEEAPE QIASVGLLSS NIQQHQKQHC GEKPLKRQQG RVPVLRSCKV
HLSEKSLQSR EVGKALLISS GVLKHQVTHT GEKSHRSSKS REAFHAGKRH YKCSECGKAF
GQKYLLVQHQ RLHAGKKTYE CSECGKLFRD MSNLFIHQIV HTGERPYGCS NCGKSFSRNA
HLIEHQRVHT GEKPFTCSEC GKAFRHNSTL VQHHKIHTGV RPYECSECGK LFSFNSSLMK
HQRIHTGERP YKCSECGKFY SHKSNLIKHW RVHTGERPYK CSDCGKFFTQ CSSLMQHQKV
HTGEKPFKCN ECGRFFRENS TLVRHQRVHT GAKPYECREC GKFFSQSSTL MQHRKVHIGE
KPFKCNECGR LFRENSSLVK HQRVHTGAKP YECRECGKFF RHNSSLFKHR RIHTGEMQ*
speed 0.90 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