Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999998579610132 (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) chr19:38056763C>GN/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.567G>C
cDNA.667G>C
g.28911G>C
AA changes Q189H Score: 24 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 189
frameshift no
known variant Reference ID: rs8111790
databasehomozygous (G/G)heterozygousallele carriers
1000G119663782
ExAC57512126527016
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4330.004
-1.7530.003
(flanking)3.6850.924
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased28914wt: 0.9612 / mu: 0.9651 (marginal change - not scored)wt: CAGACTGGTGAGAAA
mu: CACACTGGTGAGAAA		 GACT|ggtg
distance from splice site 431
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      189KKPSYIQHQRIQTGEKPYECMECG
mutated  not conserved    189SYIQHQRIHTGEKPYECMEC
Ptroglodytes  all identical  ENSPTRG00000010913  189SYIQHQRIQTGEKPYECMEC
Mmulatta  all identical  ENSMMUG00000011091  189NYMQHQRIQTGEKPYECMEC
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 
164189ZN_FINGC2H2-type 2; atypical.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 567
cDNA position
(for ins/del: last normal base / first normal base)		 667
gDNA position
(for ins/del: last normal base / first normal base)		 28911
chromosomal position
(for ins/del: last normal base / first normal base)		 38056763
original gDNA sequence snippet ATTCAACATCAGAGAATTCAGACTGGTGAGAAACCTTATGA
altered gDNA sequence snippet ATTCAACATCAGAGAATTCACACTGGTGAGAAACCTTATGA
original cDNA sequence snippet ATTCAACATCAGAGAATTCAGACTGGTGAGAAACCTTATGA
altered cDNA sequence snippet ATTCAACATCAGAGAATTCACACTGGTGAGAAACCTTATGA
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
SYIQHQRIHT 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*
speed 0.82 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