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 ENST00000426954
Genbank transcript ID NM_001098492
UniProt peptide Q96HQ0
alteration type single base exchange
alteration region CDS
DNA changes c.385G>C
cDNA.625G>C
g.5268G>C
AA changes E129Q Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 129
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      129QHCGEKPLKRQEGRVPVLRSCKVH
mutated  all conserved    129GEKPLKRQQGRVPVLRSCKV
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 1497 / 1497
position (AA) of stopcodon in wt / mu AA sequence 499 / 499
position of stopcodon in wt / mu cDNA 1737 / 1737
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 241 / 241
chromosome 19
strand 1
last intron/exon boundary 503
theoretical NMD boundary in CDS 212
length of CDS 1497
coding sequence (CDS) position 385
cDNA position
(for ins/del: last normal base / first normal base)		 625
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 QQGYVTFEDV AVYFSQEEWR LLDDAQRLLY RNVMLENFTL LASLGLASSK
THEITQLESW EEPFMPAWEV VTSAIPRGCW 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 QQGYVTFEDV AVYFSQEEWR LLDDAQRLLY RNVMLENFTL LASLGLASSK
THEITQLESW EEPFMPAWEV VTSAIPRGCW 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 1.00 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