Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999979 (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
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:14829749C>TN/A show variant in all transcripts   IGV
HGNC symbol ZNF333
Ensembl transcript ID ENST00000536363
Genbank transcript ID N/A
UniProt peptide Q96JL9
alteration type single base exchange
alteration region CDS
DNA changes c.1283C>T
cDNA.1987C>T
g.29137C>T
AA changes A428V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 428
frameshift no
known variant Reference ID: rs3764626
databasehomozygous (T/T)heterozygousallele carriers
1000G61111881799
ExAC95941357923173
regulatory features ZNF274, Transcription Factor, ZNF274 Transcription Factor Binding
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8090.003
-0.2570
(flanking)-1.310
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 710
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      428RIHTGEKLYECATCGQVLSRLSTL
mutated  not conserved    428GEKLYECVTCGQVLSRLST
Ptroglodytes  not conserved  ENSPTRG00000010599  537GEKLYECGTCGQVLSRLST
Mmulatta  not conserved  ENSMMUG00000020653  536GEKLYECGTCGQVLSRLST
Fcatus  all identical  ENSFCAG00000000199  535GEKLYECATCGQVLSRLST
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 
422444ZN_FINGC2H2-type 3.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1671 / 1671
position (AA) of stopcodon in wt / mu AA sequence 557 / 557
position of stopcodon in wt / mu cDNA 2375 / 2375
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 705 / 705
chromosome 19
strand 1
last intron/exon boundary 1278
theoretical NMD boundary in CDS 523
length of CDS 1671
coding sequence (CDS) position 1283
cDNA position
(for ins/del: last normal base / first normal base)		 1987
gDNA position
(for ins/del: last normal base / first normal base)		 29137
chromosomal position
(for ins/del: last normal base / first normal base)		 14829749
original gDNA sequence snippet GGAGAAACTGTATGAGTGCGCGACTTGCGGTCAGGTCTTGA
altered gDNA sequence snippet GGAGAAACTGTATGAGTGCGTGACTTGCGGTCAGGTCTTGA
original cDNA sequence snippet GGAGAAACTGTATGAGTGCGCGACTTGCGGTCAGGTCTTGA
altered cDNA sequence snippet GGAGAAACTGTATGAGTGCGTGACTTGCGGTCAGGTCTTGA
wildtype AA sequence MQLVPSIEER ETPLTREDRP ALQEPPWSLG CTGLKAAMQI QRVVIPVPTL GHRNPWVARD
SAVPARDPAW LQEDKVEEEA MAPGLPTACS QEPVTFADVA VVFTPEEWVF LDSTQRSLYR
DVMLENYRNL ASVADQLCKP NALSYLEERG EQWTTDRGVL SDTCAEPQCQ PQEAIPSQDT
FTEILSIDVK GEQPQPGEKL YKYNELEKPF NSIEPLFQYQ RIHAGEASCE CQEIRNSFFQ
SAHLIVPEKI RSGDKSYACN KCEKSFRYSS DLIRHEKTHT AEKCFDCQEC GQAFKYSSNL
RRHMRTHTGE KPFECSQCGK TFTRNFNLIL HQRNHTGEKP YECKDCGKAF NQPSSLRSHV
RTHTGEKPFE CSQCGKAFRE HSSLKTHLRT HTREKPYECN QCGKPFRTST HLNVHKRIHT
GEKLYECATC GQVLSRLSTL KSHMRTHTGE KPYVCQECGR AFSEPSSLRK HARTHSGKKP
YACQECGRAF GQSSHLIVHV RTHSAGRPYQ CNQCEKAFRH SSSLTVHKRT HVGRETIRNG
SLPLSMSHPY CGPLAN*
mutated AA sequence MQLVPSIEER ETPLTREDRP ALQEPPWSLG CTGLKAAMQI QRVVIPVPTL GHRNPWVARD
SAVPARDPAW LQEDKVEEEA MAPGLPTACS QEPVTFADVA VVFTPEEWVF LDSTQRSLYR
DVMLENYRNL ASVADQLCKP NALSYLEERG EQWTTDRGVL SDTCAEPQCQ PQEAIPSQDT
FTEILSIDVK GEQPQPGEKL YKYNELEKPF NSIEPLFQYQ RIHAGEASCE CQEIRNSFFQ
SAHLIVPEKI RSGDKSYACN KCEKSFRYSS DLIRHEKTHT AEKCFDCQEC GQAFKYSSNL
RRHMRTHTGE KPFECSQCGK TFTRNFNLIL HQRNHTGEKP YECKDCGKAF NQPSSLRSHV
RTHTGEKPFE CSQCGKAFRE HSSLKTHLRT HTREKPYECN QCGKPFRTST HLNVHKRIHT
GEKLYECVTC GQVLSRLSTL KSHMRTHTGE KPYVCQECGR AFSEPSSLRK HARTHSGKKP
YACQECGRAF GQSSHLIVHV RTHSAGRPYQ CNQCEKAFRH SSSLTVHKRT HVGRETIRNG
SLPLSMSHPY CGPLAN*
speed 1.04 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