Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999992056 (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) chr19:44832875A>GN/A show variant in all transcripts   IGV
HGNC symbol ZNF112
Ensembl transcript ID ENST00000354340
Genbank transcript ID NM_013380
UniProt peptide Q9UJU3
alteration type single base exchange
alteration region CDS
DNA changes c.1435T>C
cDNA.1487T>C
g.72900T>C
AA changes Y479H Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 479
frameshift no
known variant Reference ID: rs2722722
databasehomozygous (G/G)heterozygousallele carriers
1000G112610362162
ExAC26114-194616653
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1110
0.0560
(flanking)-5.0640
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased72895wt: 0.28 / mu: 0.57wt: CCATAATTTATATCT
mu: CCATAATTTACATCT		 ATAA|ttta
distance from splice site 1215
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      479YVCSNSFSHNLYLQGHPKIHIGEK
mutated  all conserved    479YVCSNSFSHNLHLQGHPKIHIGE
Ptroglodytes  all identical  ENSPTRG00000011113  496YMCSNSFSHNLYLQGHPKIHIGE
Mmulatta  all identical  ENSMMUG00000012802  485YVCGNSFSHSLYLQGHPKIHIGE
Fcatus  all identical  ENSFCAG00000009947  483YLQGHQKIHIGE
Mmusculus  not conserved  ENSMUSG00000052675  486SQTLCLQGHQKLHIRE
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 
471493ZN_FINGC2H2-type 3; degenerate.lost
497519ZN_FINGC2H2-type 4; degenerate.might get lost (downstream of altered splice site)
525547ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
553575ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
581603ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
609631ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
637659ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
665687ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
693715ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
721743ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
749771ZN_FINGC2H2-type 13.might get lost (downstream of altered splice site)
777799ZN_FINGC2H2-type 14.might get lost (downstream of altered splice site)
805827ZN_FINGC2H2-type 15.might get lost (downstream of altered splice site)
813813CONFLICTG -> A (in Ref. 1; AAF12816).might get lost (downstream of altered splice site)
833855ZN_FINGC2H2-type 16.might get lost (downstream of altered splice site)
861883ZN_FINGC2H2-type 17.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2724 / 2724
position (AA) of stopcodon in wt / mu AA sequence 908 / 908
position of stopcodon in wt / mu cDNA 2776 / 2776
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 53 / 53
chromosome 19
strand -1
last intron/exon boundary 273
theoretical NMD boundary in CDS 170
length of CDS 2724
coding sequence (CDS) position 1435
cDNA position
(for ins/del: last normal base / first normal base)		 1487
gDNA position
(for ins/del: last normal base / first normal base)		 72900
chromosomal position
(for ins/del: last normal base / first normal base)		 44832875
original gDNA sequence snippet ACAGCTTCAGCCATAATTTATATCTTCAAGGTCATCCAAAA
altered gDNA sequence snippet ACAGCTTCAGCCATAATTTACATCTTCAAGGTCATCCAAAA
original cDNA sequence snippet ACAGCTTCAGCCATAATTTATATCTTCAAGGTCATCCAAAA
altered cDNA sequence snippet ACAGCTTCAGCCATAATTTACATCTTCAAGGTCATCCAAAA
wildtype AA sequence MVTFKDVAVV FTEEELGLLD SVQRKLYRDV MLENFRNLLL VAHQPFKPDL ISQLEREEKL
LMVETETPRD GCSGRKNQQK MESIQEVTVS YFSPKELSSR QTWQQSAGGL IRCQDFLKVF
QGKNSQLQEQ GNSLGQVWAG IPVQISEDKN YIFTHIGNGS NYIKSQGYPS WRAHHSWRKM
YLKESHNYQC RCQQISMKNH FCKCDSVSWL SHHNDKLEVH RKENYSCHDC GEDIMKVSLL
NQESIQTEEK PYPCTGYRKA FSNDSSSEVH QQFHLEGKPY TYSSCGKGCN YSSLLHIHQN
IEREDDIENS HLKSYQRVHT EEKPCKCGEY GENFNHCSPL NTYELIHTGE MSYRHNIYEK
AFSHSLDLNS IFRVHTRDEP HEYEENENVF NQSSCLQVHQ KIHTEEKLYT DIEYGKSFIC
SSNLDIQHRV HMEENSYNSE ECGNGFSLAS HFQDLQIVHT KEQPYKRYVC SNSFSHNLYL
QGHPKIHIGE KPRKEHGNGF NWSSKLKDHQ RVHTGQKPYK CNICGKGFNH RSVLNVHQRV
HTGEKPYKCE ECDKGFSRSS YLQAHQRVHT GEKPYKCEEC GKGFSRNSYL QGHQRVHTGE
KPYKCEECGK GFSRSSHLQG HQRVHTGEKP FKCEECGKGF SWSFNLQIHQ RVHTGEKPYK
CEECGKGFSK ASTLLAHQRV HTGEKPYQCD ECGKSFSQRS YLQSHQSVHS GERPYICEVC
GKGFSQRAYL QGHQRVHTRV KPYKCEMCGK GFSQSSRLEA HRRVHTGGKP YKCEVCTKGF
SESSRLQAHQ RVHVEGRPYK CEQCGKGFSG YSSLQAHHRV HTGEKPYKCE VCGKGFSQRS
NLQAHQRVHT GEKPYKCDAC GKGFRWSSGL LIHQRVHSSD KFYKSEDYGK DYPSSENLHR
NEDSVLF*
mutated AA sequence MVTFKDVAVV FTEEELGLLD SVQRKLYRDV MLENFRNLLL VAHQPFKPDL ISQLEREEKL
LMVETETPRD GCSGRKNQQK MESIQEVTVS YFSPKELSSR QTWQQSAGGL IRCQDFLKVF
QGKNSQLQEQ GNSLGQVWAG IPVQISEDKN YIFTHIGNGS NYIKSQGYPS WRAHHSWRKM
YLKESHNYQC RCQQISMKNH FCKCDSVSWL SHHNDKLEVH RKENYSCHDC GEDIMKVSLL
NQESIQTEEK PYPCTGYRKA FSNDSSSEVH QQFHLEGKPY TYSSCGKGCN YSSLLHIHQN
IEREDDIENS HLKSYQRVHT EEKPCKCGEY GENFNHCSPL NTYELIHTGE MSYRHNIYEK
AFSHSLDLNS IFRVHTRDEP HEYEENENVF NQSSCLQVHQ KIHTEEKLYT DIEYGKSFIC
SSNLDIQHRV HMEENSYNSE ECGNGFSLAS HFQDLQIVHT KEQPYKRYVC SNSFSHNLHL
QGHPKIHIGE KPRKEHGNGF NWSSKLKDHQ RVHTGQKPYK CNICGKGFNH RSVLNVHQRV
HTGEKPYKCE ECDKGFSRSS YLQAHQRVHT GEKPYKCEEC GKGFSRNSYL QGHQRVHTGE
KPYKCEECGK GFSRSSHLQG HQRVHTGEKP FKCEECGKGF SWSFNLQIHQ RVHTGEKPYK
CEECGKGFSK ASTLLAHQRV HTGEKPYQCD ECGKSFSQRS YLQSHQSVHS GERPYICEVC
GKGFSQRAYL QGHQRVHTRV KPYKCEMCGK GFSQSSRLEA HRRVHTGGKP YKCEVCTKGF
SESSRLQAHQ RVHVEGRPYK CEQCGKGFSG YSSLQAHHRV HTGEKPYKCE VCGKGFSQRS
NLQAHQRVHT GEKPYKCDAC GKGFRWSSGL LIHQRVHSSD KFYKSEDYGK DYPSSENLHR
NEDSVLF*
speed 0.56 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