Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999979      (explain)
Summary
  • amino acid sequence changed
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:53116949T>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF83
Ensembl transcript ID ENST00000544146
Genbank transcript ID NM_001105549
UniProt peptide P51522
alteration type single base exchange
alteration region CDS
DNA changes c.869A>G
cDNA.1611A>G
g.76793A>G
AA changes K290R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 290
frameshift no
known variant Reference ID: rs113015820
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC099
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)-0.4970.027
0.2640.01
(flanking)-0.9870
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 1102
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      290HQRIHTGEKPYKCNECGKVFSHKS
mutated  all conserved    290HQRIHTGEKPYRCNECGKVFSH
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000023272  290HRRIHTGEKPYKCNECGKVFSH
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
289311ZN_FINGC2H2-type 8.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1551 / 1551
position (AA) of stopcodon in wt / mu AA sequence 517 / 517
position of stopcodon in wt / mu cDNA 2293 / 2293
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 743 / 743
chromosome 19
strand -1
last intron/exon boundary 510
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1551
coding sequence (CDS) position 869
cDNA position
(for ins/del: last normal base / first normal base)		 1611
gDNA position
(for ins/del: last normal base / first normal base)		 76793
chromosomal position
(for ins/del: last normal base / first normal base)		 53116949
original gDNA sequence snippet CACTGGAGAGAAACCTTACAAATGTAATGAGTGTGGCAAGG
altered gDNA sequence snippet CACTGGAGAGAAACCTTACAGATGTAATGAGTGTGGCAAGG
original cDNA sequence snippet CACTGGAGAGAAACCTTACAAATGTAATGAGTGTGGCAAGG
altered cDNA sequence snippet CACTGGAGAGAAACCTTACAGATGTAATGAGTGTGGCAAGG
wildtype AA sequence MHGRKDDAQK QPVKNQLGLN PQSHLPELQL FQAEGKIYKY DHMEKSVNSS SLVSPPQRIS
STVKTHISHT YECNFVDSLF TQKEKANIGT EHYKCSERGK AFHQGLHFTI HQIIHTKETQ
FKCDICGKIF NKKSNLASHQ RIHTGEKPYK CNECGKVFHN MSHLAQHRRI HTGEKPYKCN
ECGKVFNQIS HLAQHQRIHT GEKPYKCNEC GKVFHQISHL AQHRTIHTGE KPYECNKCGK
VFSRNSYLVQ HLIIHTGEKP YRCNVCGKVF HHISHLAQHQ RIHTGEKPYK CNECGKVFSH
KSSLVNHWRI HTGEKPYKCN ECGKVFSHKS SLVNHWRIHT GEKPYKCNEC GKVFSRNSYL
AQHLIIHAGE KPYKCDECDK AFSQNSHLVQ HHRIHTGEKP YKCDECGKVF SQNSYLAYHW
RIHTGEKAYK CNECGKVFGL NSSLAHHRKI HTGEKPFKCN ECGKAFSMRS SLTNHHAIHT
GEKHFKCNEC GKLFRDNSYL VRHQRFHAGK KSNTCN*
mutated AA sequence MHGRKDDAQK QPVKNQLGLN PQSHLPELQL FQAEGKIYKY DHMEKSVNSS SLVSPPQRIS
STVKTHISHT YECNFVDSLF TQKEKANIGT EHYKCSERGK AFHQGLHFTI HQIIHTKETQ
FKCDICGKIF NKKSNLASHQ RIHTGEKPYK CNECGKVFHN MSHLAQHRRI HTGEKPYKCN
ECGKVFNQIS HLAQHQRIHT GEKPYKCNEC GKVFHQISHL AQHRTIHTGE KPYECNKCGK
VFSRNSYLVQ HLIIHTGEKP YRCNVCGKVF HHISHLAQHQ RIHTGEKPYR CNECGKVFSH
KSSLVNHWRI HTGEKPYKCN ECGKVFSHKS SLVNHWRIHT GEKPYKCNEC GKVFSRNSYL
AQHLIIHAGE KPYKCDECDK AFSQNSHLVQ HHRIHTGEKP YKCDECGKVF SQNSYLAYHW
RIHTGEKAYK CNECGKVFGL NSSLAHHRKI HTGEKPFKCN ECGKAFSMRS SLTNHHAIHT
GEKHFKCNEC GKLFRDNSYL VRHQRFHAGK KSNTCN*
speed 1.35 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