Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999998 (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) chr19:58152795C>TN/A show variant in all transcripts   IGV
HGNC symbol ZNF211
Ensembl transcript ID ENST00000544273
Genbank transcript ID N/A
UniProt peptide Q13398
alteration type single base exchange
alteration region CDS
DNA changes c.977C>T
cDNA.1304C>T
g.11035C>T
AA changes A326V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 326
frameshift no
known variant Reference ID: rs11879465
databasehomozygous (T/T)heterozygousallele carriers
1000G129814943
ExAC21601744019600
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4570
-1.5680
(flanking)-0.1920.015
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained110280.76mu: AAAGGCCTTATGTGT AGGC|ctta
distance from splice site 724
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      326HQRVHTGERPYACPECGKSFSQIY
mutated  not conserved    326HQRVHTGERPYVCPECGKSFSQI
Ptroglodytes  not conserved  ENSPTRG00000011565  327HQRVHTGERPYECPECGKSFSQI
Mmulatta  not conserved  ENSMMUG00000005333  359HQRVHTGERPYVCPECGKSFS
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 
313335ZN_FINGC2H2-type 4.lost
341363ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
369391ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
397419ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
425447ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
453475ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
481503ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
509531ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
537559ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1731 / 1731
position (AA) of stopcodon in wt / mu AA sequence 577 / 577
position of stopcodon in wt / mu cDNA 2058 / 2058
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 328 / 328
chromosome 19
strand 1
last intron/exon boundary 581
theoretical NMD boundary in CDS 203
length of CDS 1731
coding sequence (CDS) position 977
cDNA position
(for ins/del: last normal base / first normal base)		 1304
gDNA position
(for ins/del: last normal base / first normal base)		 11035
chromosomal position
(for ins/del: last normal base / first normal base)		 58152795
original gDNA sequence snippet TACTGGAGAAAGGCCTTATGCGTGCCCTGAATGTGGGAAAT
altered gDNA sequence snippet TACTGGAGAAAGGCCTTATGTGTGCCCTGAATGTGGGAAAT
original cDNA sequence snippet TACTGGAGAAAGGCCTTATGCGTGCCCTGAATGTGGGAAAT
altered cDNA sequence snippet TACTGGAGAAAGGCCTTATGTGTGCCCTGAATGTGGGAAAT
wildtype AA sequence MRTLRQREVE YFSKATQLVR GSTKDRGAQV PIATEVLFKL TQGSVTFEDV AVYFSWEEWD
LLDEAQKHLY FDVMLENFAL TSSLGCWCGV EHEETPSEQR ISGERVPQFR TSKEGSSSQN
ADSCEICCLV LRDILHLAEH QGTNCGQKLH TCGKQFYISA NLQQHQRQHI TEAPFRSYVD
TASFTQSCIV HVSEKPFTCR EIRKDFLANM RFLHQDATQT GEKPNNSNKC AVAFYSGKSH
HNWGKCSKAF SHIDTLVQDQ RILTREGLFE CSKCGKACTR RCNLIQHQKV HSEERPYECN
ECGKFFTYYS SFIIHQRVHT GERPYACPEC GKSFSQIYSL NSHRKVHTGE RPYECGECGK
SFSQRSNLMQ HRRVHTGERP YECSECGKSF SQNFSLIYHQ RVHTGERPHE CNECGKSFSR
SSSLIHHRRL HTGERPYECS KCGKSFKQSS SFSSHRKVHT GERPYVCGEC GKSFSHSSNL
KNHQRVHTGE RPVECSECSK SFSCKSNLIK HLRVHTGERP YECSECGKSF SQSSSLIQHR
RVHTGKRPYQ CSQCGKSFGC KSVLIQHQRV HIGEKP*
mutated AA sequence MRTLRQREVE YFSKATQLVR GSTKDRGAQV PIATEVLFKL TQGSVTFEDV AVYFSWEEWD
LLDEAQKHLY FDVMLENFAL TSSLGCWCGV EHEETPSEQR ISGERVPQFR TSKEGSSSQN
ADSCEICCLV LRDILHLAEH QGTNCGQKLH TCGKQFYISA NLQQHQRQHI TEAPFRSYVD
TASFTQSCIV HVSEKPFTCR EIRKDFLANM RFLHQDATQT GEKPNNSNKC AVAFYSGKSH
HNWGKCSKAF SHIDTLVQDQ RILTREGLFE CSKCGKACTR RCNLIQHQKV HSEERPYECN
ECGKFFTYYS SFIIHQRVHT GERPYVCPEC GKSFSQIYSL NSHRKVHTGE RPYECGECGK
SFSQRSNLMQ HRRVHTGERP YECSECGKSF SQNFSLIYHQ RVHTGERPHE CNECGKSFSR
SSSLIHHRRL HTGERPYECS KCGKSFKQSS SFSSHRKVHT GERPYVCGEC GKSFSHSSNL
KNHQRVHTGE RPVECSECSK SFSCKSNLIK HLRVHTGERP YECSECGKSF SQSSSLIQHR
RVHTGKRPYQ CSQCGKSFGC KSVLIQHQRV HIGEKP*
speed 1.30 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