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 ENST00000337401
Genbank transcript ID NM_001083335
UniProt peptide Q9UJU3
alteration type single base exchange
alteration region CDS
DNA changes c.1453T>C
cDNA.1542T>C
g.72900T>C
AA changes Y485H Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 485
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      485YVCSNSFSHNLYLQGHPKIHIGEK
mutated  all conserved    485SHNLHLQGHPKIHIGE
Ptroglodytes  all identical  ENSPTRG00000011113  496SHNLYLQGHPKIHIGE
Mmulatta  all identical  ENSMMUG00000012802  485SHSLYLQGHPKIHIGE
Fcatus  all identical  ENSFCAG00000009947  483NSYLQGHQKIHIGE
Mmusculus  not conserved  ENSMUSG00000052675  486LCRTGFSQTLCLQGHQKLHIRE
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 2742 / 2742
position (AA) of stopcodon in wt / mu AA sequence 914 / 914
position of stopcodon in wt / mu cDNA 2831 / 2831
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 90 / 90
chromosome 19
strand -1
last intron/exon boundary 328
theoretical NMD boundary in CDS 188
length of CDS 2742
coding sequence (CDS) position 1453
cDNA position
(for ins/del: last normal base / first normal base)		 1542
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 MTKFQEMVTF KDVAVVFTEE ELGLLDSVQR KLYRDVMLEN FRNLLLVAHQ PFKPDLISQL
EREEKLLMVE TETPRDGCSG RKNQQKMESI QEVTVSYFSP KELSSRQTWQ QSAGGLIRCQ
DFLKVFQGKN SQLQEQGNSL GQVWAGIPVQ ISEDKNYIFT HIGNGSNYIK SQGYPSWRAH
HSWRKMYLKE SHNYQCRCQQ ISMKNHFCKC DSVSWLSHHN DKLEVHRKEN YSCHDCGEDI
MKVSLLNQES IQTEEKPYPC TGYRKAFSND SSSEVHQQFH LEGKPYTYSS CGKGCNYSSL
LHIHQNIERE DDIENSHLKS YQRVHTEEKP CKCGEYGENF NHCSPLNTYE LIHTGEMSYR
HNIYEKAFSH SLDLNSIFRV HTRDEPHEYE ENENVFNQSS CLQVHQKIHT EEKLYTDIEY
GKSFICSSNL DIQHRVHMEE NSYNSEECGN GFSLASHFQD LQIVHTKEQP YKRYVCSNSF
SHNLYLQGHP KIHIGEKPRK EHGNGFNWSS KLKDHQRVHT GQKPYKCNIC GKGFNHRSVL
NVHQRVHTGE KPYKCEECDK GFSRSSYLQA HQRVHTGEKP YKCEECGKGF SRNSYLQGHQ
RVHTGEKPYK CEECGKGFSR SSHLQGHQRV HTGEKPFKCE ECGKGFSWSF NLQIHQRVHT
GEKPYKCEEC GKGFSKASTL LAHQRVHTGE KPYQCDECGK SFSQRSYLQS HQSVHSGERP
YICEVCGKGF SQRAYLQGHQ RVHTRVKPYK CEMCGKGFSQ SSRLEAHRRV HTGGKPYKCE
VCTKGFSESS RLQAHQRVHV EGRPYKCEQC GKGFSGYSSL QAHHRVHTGE KPYKCEVCGK
GFSQRSNLQA HQRVHTGEKP YKCDACGKGF RWSSGLLIHQ RVHSSDKFYK SEDYGKDYPS
SENLHRNEDS VLF*
mutated AA sequence MTKFQEMVTF KDVAVVFTEE ELGLLDSVQR KLYRDVMLEN FRNLLLVAHQ PFKPDLISQL
EREEKLLMVE TETPRDGCSG RKNQQKMESI QEVTVSYFSP KELSSRQTWQ QSAGGLIRCQ
DFLKVFQGKN SQLQEQGNSL GQVWAGIPVQ ISEDKNYIFT HIGNGSNYIK SQGYPSWRAH
HSWRKMYLKE SHNYQCRCQQ ISMKNHFCKC DSVSWLSHHN DKLEVHRKEN YSCHDCGEDI
MKVSLLNQES IQTEEKPYPC TGYRKAFSND SSSEVHQQFH LEGKPYTYSS CGKGCNYSSL
LHIHQNIERE DDIENSHLKS YQRVHTEEKP CKCGEYGENF NHCSPLNTYE LIHTGEMSYR
HNIYEKAFSH SLDLNSIFRV HTRDEPHEYE ENENVFNQSS CLQVHQKIHT EEKLYTDIEY
GKSFICSSNL DIQHRVHMEE NSYNSEECGN GFSLASHFQD LQIVHTKEQP YKRYVCSNSF
SHNLHLQGHP KIHIGEKPRK EHGNGFNWSS KLKDHQRVHT GQKPYKCNIC GKGFNHRSVL
NVHQRVHTGE KPYKCEECDK GFSRSSYLQA HQRVHTGEKP YKCEECGKGF SRNSYLQGHQ
RVHTGEKPYK CEECGKGFSR SSHLQGHQRV HTGEKPFKCE ECGKGFSWSF NLQIHQRVHT
GEKPYKCEEC GKGFSKASTL LAHQRVHTGE KPYQCDECGK SFSQRSYLQS HQSVHSGERP
YICEVCGKGF SQRAYLQGHQ RVHTRVKPYK CEMCGKGFSQ SSRLEAHRRV HTGGKPYKCE
VCTKGFSESS RLQAHQRVHV EGRPYKCEQC GKGFSGYSSL QAHHRVHTGE KPYKCEVCGK
GFSQRSNLQA HQRVHTGEKP YKCDACGKGF RWSSGLLIHQ RVHSSDKFYK SEDYGKDYPS
SENLHRNEDS VLF*
speed 0.71 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