Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999776445290315 (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 ENST00000544719
Genbank transcript ID N/A
UniProt peptide Q96NJ3
alteration type single base exchange
alteration region CDS
DNA changes c.1606A>G
cDNA.1803A>G
g.14974A>G
AA changes R536G Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 536
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 991
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      536SDLNVHLRVHTRERPYKCKACGKG
mutated  not conserved    536SDLNVHLRVHTGERPY
Ptroglodytes  not conserved  ENSPTRG00000012475  559HTGERPYKCKACGK
Mmulatta  not conserved  ENSMMUG00000012804  536SDLHVHLRVHTGERPY
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.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1773 / 1773
position (AA) of stopcodon in wt / mu AA sequence 591 / 591
position of stopcodon in wt / mu cDNA 1970 / 1970
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 198 / 198
chromosome 19
strand -1
last intron/exon boundary 340
theoretical NMD boundary in CDS 92
length of CDS 1773
coding sequence (CDS) position 1606
cDNA position
(for ins/del: last normal base / first normal base)		 1803
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 MIKFQERVTF KDVAVVFTKE ELALLDKAQI NLYQDVMLEN FRNLMLVRDG IKNNILNLQA
KGLSYLSQEV LHCWQIWKQR IRDLTVSQDY IVNLQEECSP HLEDVSLSEE WAGISLQISE
NENYVVNAII KNQDITAWQS LTQVLTPESW RKANIMTEPQ NSQGRYKGIY MEEKLYRRAQ
HDDSLSWTSC DHHESQECKG EDPGRHPNCG KNLGMKSTVE KRNAAHVLPQ PFPCNNCGVA
FADDTDPHVH HSTHLGEKSY KCDQYGKNFS QSQDLIVHCK THSGKTPYEF HEWPMGCKQS
SDLPRYQKVS SGDKPYKCKE CGKGFRRSSS LHNHHRVHTG EMPYKCDECG KGFGFRSLLC
IHQGVHTGKK PYKCEECGKG FDQSSNLLVH QRVHTGEKPY KCSECGKCFS SSSVLQVHWR
FHTGEKPYRC GECGKGFSQC THLHIHQRVH TGEKPYKCNV CGKDFAYSSV LHTHQRVHTG
EKPYKCEVCG KCFSYSSYFH LHQRDHIREK PYKCDECGKG FSRNSDLNVH LRVHTRERPY
KCKACGKGFS RNSYLLAHQR VHIDETQYTH CERGKDLLTH QRLHEQRETL *
mutated AA sequence MIKFQERVTF KDVAVVFTKE ELALLDKAQI NLYQDVMLEN FRNLMLVRDG IKNNILNLQA
KGLSYLSQEV LHCWQIWKQR IRDLTVSQDY IVNLQEECSP HLEDVSLSEE WAGISLQISE
NENYVVNAII KNQDITAWQS LTQVLTPESW RKANIMTEPQ NSQGRYKGIY MEEKLYRRAQ
HDDSLSWTSC DHHESQECKG EDPGRHPNCG KNLGMKSTVE KRNAAHVLPQ PFPCNNCGVA
FADDTDPHVH HSTHLGEKSY KCDQYGKNFS QSQDLIVHCK THSGKTPYEF HEWPMGCKQS
SDLPRYQKVS SGDKPYKCKE CGKGFRRSSS LHNHHRVHTG EMPYKCDECG KGFGFRSLLC
IHQGVHTGKK PYKCEECGKG FDQSSNLLVH QRVHTGEKPY KCSECGKCFS SSSVLQVHWR
FHTGEKPYRC GECGKGFSQC THLHIHQRVH TGEKPYKCNV CGKDFAYSSV LHTHQRVHTG
EKPYKCEVCG KCFSYSSYFH LHQRDHIREK PYKCDECGKG FSRNSDLNVH LRVHTGERPY
KCKACGKGFS RNSYLLAHQR VHIDETQYTH CERGKDLLTH QRLHEQRETL *
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