Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.995605710894419 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:38055612A>TN/A show variant in all transcripts   IGV
HGNC symbol ZNF571
Ensembl transcript ID ENST00000328550
Genbank transcript ID NM_016536
UniProt peptide Q7Z3V5
alteration type single base exchange
alteration region CDS
DNA changes c.1718T>A
cDNA.1818T>A
g.30062T>A
AA changes L573H Score: 99 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 573
frameshift no
known variant Reference ID: rs4802029
databasehomozygous (T/T)heterozygousallele carriers
1000G40510341439
ExAC49542173826692
regulatory features Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
ZNF274, Transcription Factor, ZNF274 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.020.228
4.1230.538
(flanking)1.7030.507
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 906
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      573ECGRAFSRGSELTLHQRIHTGEKP
mutated  not conserved    573ECGRAFSRGSEHTLHQRIHTGEK
Ptroglodytes  all identical  ENSPTRG00000010913  573ECGRAFSRGSELTLHQRIHTGEK
Mmulatta  all identical  ENSMMUG00000011091  573ECGKGFSRGSELTLHQRIHTGEK
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 
558580ZN_FINGC2H2-type 16.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1830 / 1830
position (AA) of stopcodon in wt / mu AA sequence 610 / 610
position of stopcodon in wt / mu cDNA 1930 / 1930
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 101 / 101
chromosome 19
strand -1
last intron/exon boundary 2724
theoretical NMD boundary in CDS 2573
length of CDS 1830
coding sequence (CDS) position 1718
cDNA position
(for ins/del: last normal base / first normal base)		 1818
gDNA position
(for ins/del: last normal base / first normal base)		 30062
chromosomal position
(for ins/del: last normal base / first normal base)		 38055612
original gDNA sequence snippet CTTTAGTCGTGGCTCAGAACTTACTCTGCATCAAAGGATCC
altered gDNA sequence snippet CTTTAGTCGTGGCTCAGAACATACTCTGCATCAAAGGATCC
original cDNA sequence snippet CTTTAGTCGTGGCTCAGAACTTACTCTGCATCAAAGGATCC
altered cDNA sequence snippet CTTTAGTCGTGGCTCAGAACATACTCTGCATCAAAGGATCC
wildtype AA sequence MPHLLVTFRD VAIDFSQEEW ECLDPAQRDL YRDVMLENYS NLISLDLESS CVTKKLSPEK
EIYEMESLQW ENMGKRINHH LQYNGLGDNM ECKGNLEGQE ASQEGLYMCV KITCEEKATE
SHSTSSTFHR IIPTKEKLYK CKECRQGFSY LSCLIQHEEN HNIEKCSEVK KHRNTFSKKP
SYIQHQRIQT GEKPYECMEC GKAFGRTSDL IQHQKIHTNE KPYQCNACGK AFIRGSQLTE
HQRVHTGEKP YECKKCGKAF SYCSQYTLHQ RIHSGEKPYE CKDCGKAFIL GSQLTYHQRI
HSGEKPYECK ECGKAFILGS HLTYHQRVHT GEKPYICKEC GKAFLCASQL NEHQRIHTGE
KPYECKECGK TFFRGSQLTY HLRVHSGERP YKCKECGKAF ISNSNLIQHQ RIHTGEKPYK
CKECGKAFIC GKQLSEHQRI HTGEKPFECK ECGKAFIRVA YLTQHEKIHG EKHYECKECG
KTFVRATQLT YHQRIHTGEK PYKCKECDKA FIYGSQLSEH QRIHRGEKPY ECKQCGKAFI
RGSHLTEHLR THTGEKPYEC KECGRAFSRG SELTLHQRIH TGEKPYTCVQ CGKDFRCPSQ
LTQHTRLHN*
mutated AA sequence MPHLLVTFRD VAIDFSQEEW ECLDPAQRDL YRDVMLENYS NLISLDLESS CVTKKLSPEK
EIYEMESLQW ENMGKRINHH LQYNGLGDNM ECKGNLEGQE ASQEGLYMCV KITCEEKATE
SHSTSSTFHR IIPTKEKLYK CKECRQGFSY LSCLIQHEEN HNIEKCSEVK KHRNTFSKKP
SYIQHQRIQT GEKPYECMEC GKAFGRTSDL IQHQKIHTNE KPYQCNACGK AFIRGSQLTE
HQRVHTGEKP YECKKCGKAF SYCSQYTLHQ RIHSGEKPYE CKDCGKAFIL GSQLTYHQRI
HSGEKPYECK ECGKAFILGS HLTYHQRVHT GEKPYICKEC GKAFLCASQL NEHQRIHTGE
KPYECKECGK TFFRGSQLTY HLRVHSGERP YKCKECGKAF ISNSNLIQHQ RIHTGEKPYK
CKECGKAFIC GKQLSEHQRI HTGEKPFECK ECGKAFIRVA YLTQHEKIHG EKHYECKECG
KTFVRATQLT YHQRIHTGEK PYKCKECDKA FIYGSQLSEH QRIHRGEKPY ECKQCGKAFI
RGSHLTEHLR THTGEKPYEC KECGRAFSRG SEHTLHQRIH TGEKPYTCVQ CGKDFRCPSQ
LTQHTRLHN*
speed 0.36 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