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 ENST00000442920
Genbank transcript ID NM_001098493
UniProt peptide Q96HQ0
alteration type single base exchange
alteration region CDS
DNA changes c.967A>G
cDNA.1200A>G
g.5853A>G
AA changes I323V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 323
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 658
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      323SFNSSLMKHQRIHTGERPYKCSEC
mutated  all conserved    323SFNSSLMKHQRVHTGERPYKCSE
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 1494 / 1494
position (AA) of stopcodon in wt / mu AA sequence 498 / 498
position of stopcodon in wt / mu cDNA 1727 / 1727
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 234 / 234
chromosome 19
strand 1
last intron/exon boundary 493
theoretical NMD boundary in CDS 209
length of CDS 1494
coding sequence (CDS) position 967
cDNA position
(for ins/del: last normal base / first normal base)		 1200
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 QGYVTFEDVA VYFSQEEWRL LDDAQRLLYR NVMLENFTLL ASLGLASSKT
HEITQLESWE EPFMPAWEVV TSAIPRGCWH GAEAEEAPEQ IASVGLLSSN IQQHQKQHCG
EKPLKRQEGR VPVLRSCKVH LSEKSLQSRE VGKALLISSG VLKHQVTHTG EKSHRSSKSR
EAFHAGKRHY KCSECGKAFG QKYLLVQHQR LHAGKKTYEC SECGKLFRDM SNLFIHQIVH
TGERPYGCSN CGKSFSRNAH LIEHQRVHTG EKPFTCSECG KAFRHNSTLV QHHKIHTGVR
PYECSECGKL FSFNSSLMKH QRIHTGERPY KCSECGKFYS HKSNLIKHWR VHTGERPYKC
SDCGKFFTQC SSLMQHQKVH TGEKPFKCNE CGRFFRENST LVRHQRVHTG AKPYECRECG
KFFSQSSTLM QHRKVHIGEK PFKCNECGRL FRENSSLVKH QRVHTGAKPY ECRECGKFFR
HNSSLFKHRR IHTGEMQ*
mutated AA sequence MAAAALRDPA QGYVTFEDVA VYFSQEEWRL LDDAQRLLYR NVMLENFTLL ASLGLASSKT
HEITQLESWE EPFMPAWEVV TSAIPRGCWH GAEAEEAPEQ IASVGLLSSN IQQHQKQHCG
EKPLKRQEGR VPVLRSCKVH LSEKSLQSRE VGKALLISSG VLKHQVTHTG EKSHRSSKSR
EAFHAGKRHY KCSECGKAFG QKYLLVQHQR LHAGKKTYEC SECGKLFRDM SNLFIHQIVH
TGERPYGCSN CGKSFSRNAH LIEHQRVHTG EKPFTCSECG KAFRHNSTLV QHHKIHTGVR
PYECSECGKL FSFNSSLMKH QRVHTGERPY KCSECGKFYS HKSNLIKHWR VHTGERPYKC
SDCGKFFTQC SSLMQHQKVH TGEKPFKCNE CGRFFRENST LVRHQRVHTG AKPYECRECG
KFFSQSSTLM QHRKVHIGEK PFKCNECGRL FRENSSLVKH QRVHTGAKPY ECRECGKFFR
HNSSLFKHRR IHTGEMQ*
speed 0.80 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