Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999786279 (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) chr19:58004931A>GN/A show variant in all transcripts   IGV
HGNC symbol ZNF419
Ensembl transcript ID ENST00000221735
Genbank transcript ID NM_024691
UniProt peptide Q96HQ0
alteration type single base exchange
alteration region CDS
DNA changes c.1006A>G
cDNA.1192A>G
g.5853A>G
AA changes I336V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 336
frameshift no
known variant Reference ID: rs2074077
databasehomozygous (G/G)heterozygousallele carriers
1000G12489872235
ExAC30744-287212023
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7410.789
-0.1560.549
(flanking)0.410.541
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained58470.88mu: AACATCAGAGAGTTC CATC|agag
distance from splice site 708
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      336SFNSSLMKHQRIHTGERPYKCSEC
mutated  all conserved    336SFNSSLMKHQRVHTGERPYKCSE
Ptroglodytes  all conserved  ENSPTRG00000011557  304SFNSSLMKHQRVHTGERPYKCSE
Mmulatta  all conserved  ENSMMUG00000014286  336SFNSSLMKHQRVHTGERPYKCSE
Fcatus  all conserved  ENSFCAG00000000014  318SFNSSLMKHQRVHTGERPY
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all conserved  FBgn0032979  386SRYSSLWSHKKLHSGEKNYKCSI
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
315337ZN_FINGC2H2-type 5.lost
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 1533 / 1533
position (AA) of stopcodon in wt / mu AA sequence 511 / 511
position of stopcodon in wt / mu cDNA 1719 / 1719
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 187 / 187
chromosome 19
strand 1
last intron/exon boundary 485
theoretical NMD boundary in CDS 248
length of CDS 1533
coding sequence (CDS) position 1006
cDNA position
(for ins/del: last normal base / first normal base)		 1192
gDNA position
(for ins/del: last normal base / first normal base)		 5853
chromosomal position
(for ins/del: last normal base / first normal base)		 58004931
original gDNA sequence snippet GCCTCATGAAACATCAGAGAATTCACACTGGAGAAAGACCT
altered gDNA sequence snippet GCCTCATGAAACATCAGAGAGTTCACACTGGAGAAAGACCT
original cDNA sequence snippet GCCTCATGAAACATCAGAGAATTCACACTGGAGAAAGACCT
altered cDNA sequence snippet GCCTCATGAAACATCAGAGAGTTCACACTGGAGAAAGACCT
wildtype AA sequence MAAAALRDPA QVPVAADLLT DHEEGYVTFE DVAVYFSQEE WRLLDDAQRL LYRNVMLENF
TLLASLGLAS SKTHEITQLE SWEEPFMPAW EVVTSAIPRG CWHGAEAEEA PEQIASVGLL
SSNIQQHQKQ HCGEKPLKRQ EGRVPVLRSC KVHLSEKSLQ SREVGKALLI SSGVLKHQVT
HTGEKSHRSS KSREAFHAGK RHYKCSECGK AFGQKYLLVQ HQRLHAGKKT YECSECGKLF
RDMSNLFIHQ IVHTGERPYG CSNCGKSFSR NAHLIEHQRV HTGEKPFTCS ECGKAFRHNS
TLVQHHKIHT GVRPYECSEC GKLFSFNSSL MKHQRIHTGE RPYKCSECGK FYSHKSNLIK
HWRVHTGERP YKCSDCGKFF TQCSSLMQHQ KVHTGEKPFK CNECGRFFRE NSTLVRHQRV
HTGAKPYECR ECGKFFSQSS TLMQHRKVHI GEKPFKCNEC GRLFRENSSL VKHQRVHTGA
KPYECRECGK FFRHNSSLFK HRRIHTGEMQ *
mutated AA sequence MAAAALRDPA QVPVAADLLT DHEEGYVTFE DVAVYFSQEE WRLLDDAQRL LYRNVMLENF
TLLASLGLAS SKTHEITQLE SWEEPFMPAW EVVTSAIPRG CWHGAEAEEA PEQIASVGLL
SSNIQQHQKQ HCGEKPLKRQ EGRVPVLRSC KVHLSEKSLQ SREVGKALLI SSGVLKHQVT
HTGEKSHRSS KSREAFHAGK RHYKCSECGK AFGQKYLLVQ HQRLHAGKKT YECSECGKLF
RDMSNLFIHQ IVHTGERPYG CSNCGKSFSR NAHLIEHQRV HTGEKPFTCS ECGKAFRHNS
TLVQHHKIHT GVRPYECSEC GKLFSFNSSL MKHQRVHTGE RPYKCSECGK FYSHKSNLIK
HWRVHTGERP YKCSDCGKFF TQCSSLMQHQ KVHTGEKPFK CNECGRFFRE NSTLVRHQRV
HTGAKPYECR ECGKFFSQSS TLMQHRKVHI GEKPFKCNEC GRLFRENSSL VKHQRVHTGA
KPYECRECGK FFRHNSSLFK HRRIHTGEMQ *
speed 0.27 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