Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999878769080454 (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) chr19:44890801T>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF285
Ensembl transcript ID ENST00000591679
Genbank transcript ID N/A
UniProt peptide Q96NJ3
alteration type single base exchange
alteration region CDS
DNA changes c.1627A>G
cDNA.1678A>G
g.14974A>G
AA changes R543G Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 543
frameshift no
known variant Reference ID: rs12610859
databasehomozygous (C/C)heterozygousallele carriers
1000G54710741621
ExAC18580-439314187
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.3671
2.450.983
(flanking)-3.1810.081
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased14973wt: 0.64 / mu: 0.97wt: CACACAAGAGAGAGG
mu: CACACAGGAGAGAGG		 CACA|agag
Donor marginally increased14971wt: 0.9576 / mu: 0.9601 (marginal change - not scored)wt: TCCACACAAGAGAGA
mu: TCCACACAGGAGAGA		 CACA|caag
distance from splice site 711
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      543SDLNVHLRVHTRERPYKCKACGKG
mutated  not conserved    543HTGERPYKCKACGK
Ptroglodytes  not conserved  ENSPTRG00000012475  559HTGERPYKCKACGK
Mmulatta  not conserved  ENSMMUG00000012804  536SDLHVHLRVHTGERPYK
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 
540562ZN_FINGC2H2-type 11.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1794 / 1794
position (AA) of stopcodon in wt / mu AA sequence 598 / 598
position of stopcodon in wt / mu cDNA 1845 / 1845
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 52 / 52
chromosome 19
strand -1
last intron/exon boundary 215
theoretical NMD boundary in CDS 113
length of CDS 1794
coding sequence (CDS) position 1627
cDNA position
(for ins/del: last normal base / first normal base)		 1678
gDNA position
(for ins/del: last normal base / first normal base)		 14974
chromosomal position
(for ins/del: last normal base / first normal base)		 44890801
original gDNA sequence snippet TTCACCTCAGAGTCCACACAAGAGAGAGGCCCTATAAGTGT
altered gDNA sequence snippet TTCACCTCAGAGTCCACACAGGAGAGAGGCCCTATAAGTGT
original cDNA sequence snippet TTCACCTCAGAGTCCACACAAGAGAGAGGCCCTATAAGTGT
altered cDNA sequence snippet TTCACCTCAGAGTCCACACAGGAGAGAGGCCCTATAAGTGT
wildtype AA sequence MIKFQIQGIH VQERVTFKDV AVVFTKEELA LLDKAQINLY QDVMLENFRN LMLVRDGIKN
NILNLQAKGL SYLSQEVLHC WQIWKQRIRD LTVSQDYIVN LQEECSPHLE DVSLSEEWAG
ISLQISENEN YVVNAIIKNQ DITAWQSLTQ VLTPESWRKA NIMTEPQNSQ GRYKGIYMEE
KLYRRAQHDD SLSWTSCDHH ESQECKGEDP GRHPNCGKNL GMKSTVEKRN AAHVLPQPFP
CNNCGVAFAD DTDPHVHHST HLGEKSYKCD QYGKNFSQSQ DLIVHCKTHS GKTPYEFHEW
PMGCKQSSDL PRYQKVSSGD KPYKCKECGK GFRRSSSLHN HHRVHTGEMP YKCDECGKGF
GFRSLLCIHQ GVHTGKKPYK CEECGKGFDQ SSNLLVHQRV HTGEKPYKCS ECGKCFSSSS
VLQVHWRFHT GEKPYRCGEC GKGFSQCTHL HIHQRVHTGE KPYKCNVCGK DFAYSSVLHT
HQRVHTGEKP YKCEVCGKCF SYSSYFHLHQ RDHIREKPYK CDECGKGFSR NSDLNVHLRV
HTRERPYKCK ACGKGFSRNS YLLAHQRVHI DETQYTHCER GKDLLTHQRL HEQRETL*
mutated AA sequence MIKFQIQGIH VQERVTFKDV AVVFTKEELA LLDKAQINLY QDVMLENFRN LMLVRDGIKN
NILNLQAKGL SYLSQEVLHC WQIWKQRIRD LTVSQDYIVN LQEECSPHLE DVSLSEEWAG
ISLQISENEN YVVNAIIKNQ DITAWQSLTQ VLTPESWRKA NIMTEPQNSQ GRYKGIYMEE
KLYRRAQHDD SLSWTSCDHH ESQECKGEDP GRHPNCGKNL GMKSTVEKRN AAHVLPQPFP
CNNCGVAFAD DTDPHVHHST HLGEKSYKCD QYGKNFSQSQ DLIVHCKTHS GKTPYEFHEW
PMGCKQSSDL PRYQKVSSGD KPYKCKECGK GFRRSSSLHN HHRVHTGEMP YKCDECGKGF
GFRSLLCIHQ GVHTGKKPYK CEECGKGFDQ SSNLLVHQRV HTGEKPYKCS ECGKCFSSSS
VLQVHWRFHT GEKPYRCGEC GKGFSQCTHL HIHQRVHTGE KPYKCNVCGK DFAYSSVLHT
HQRVHTGEKP YKCEVCGKCF SYSSYFHLHQ RDHIREKPYK CDECGKGFSR NSDLNVHLRV
HTGERPYKCK ACGKGFSRNS YLLAHQRVHI DETQYTHCER GKDLLTHQRL HEQRETL*
speed 0.43 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