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 ENST00000299871
Genbank transcript ID NM_001265597
UniProt peptide Q13398
alteration type single base exchange
alteration region CDS
DNA changes c.1136C>T
cDNA.1267C>T
g.11035C>T
AA changes A379V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 379
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      379HQRVHTGERPYACPECGKSFSQIY
mutated  not conserved    379HQRVHTGERPYVCPECGKSFSQI
Ptroglodytes  not conserved  ENSPTRG00000011565  327HQRVHTGERPYECPECGKSFSQI
Mmulatta  not conserved  ENSMMUG00000005333  359HQRVHTGERPYVCPECGKSFSQI
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 
369391ZN_FINGC2H2-type 6.lost
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 1890 / 1890
position (AA) of stopcodon in wt / mu AA sequence 630 / 630
position of stopcodon in wt / mu cDNA 2021 / 2021
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 132 / 132
chromosome 19
strand 1
last intron/exon boundary 544
theoretical NMD boundary in CDS 362
length of CDS 1890
coding sequence (CDS) position 1136
cDNA position
(for ins/del: last normal base / first normal base)		 1267
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 MLGFPPGRPQ LPVQLRPQTR MATALRDPAS VPIATEVLFK LTQGSVTFED VAVYFSWEEW
DLLDEAQKHL YFDVMLENFA LTSSLGLISS WSHVVAQLGL GEVPSVLHRM FMTPASARWD
QRGPGLHEWH LGKGMSSGCW CGVEHEETPS EQRISGERVP QFRTSKEGSS SQNADSCEIC
CLVLRDILHL AEHQGTNCGQ KLHTCGKQFY ISANLQQHQR QHITEAPFRS YVDTASFTQS
CIVHVSEKPF TCREIRKDFL ANMRFLHQDA TQTGEKPNNS NKCAVAFYSG KSHHNWGKCS
KAFSHIDTLV QDQRILTREG LFECSKCGKA CTRRCNLIQH QKVHSEERPY ECNECGKFFT
YYSSFIIHQR VHTGERPYAC PECGKSFSQI YSLNSHRKVH TGERPYECGE CGKSFSQRSN
LMQHRRVHTG ERPYECSECG KSFSQNFSLI YHQRVHTGER PHECNECGKS FSRSSSLIHH
RRLHTGERPY ECSKCGKSFK QSSSFSSHRK VHTGERPYVC GECGKSFSHS SNLKNHQRVH
TGERPVECSE CSKSFSCKSN LIKHLRVHTG ERPYECSECG KSFSQSSSLI QHRRVHTGKR
PYQCSQCGKS FGCKSVLIQH QRVHIGEKP*
mutated AA sequence MLGFPPGRPQ LPVQLRPQTR MATALRDPAS VPIATEVLFK LTQGSVTFED VAVYFSWEEW
DLLDEAQKHL YFDVMLENFA LTSSLGLISS WSHVVAQLGL GEVPSVLHRM FMTPASARWD
QRGPGLHEWH LGKGMSSGCW CGVEHEETPS EQRISGERVP QFRTSKEGSS SQNADSCEIC
CLVLRDILHL AEHQGTNCGQ KLHTCGKQFY ISANLQQHQR QHITEAPFRS YVDTASFTQS
CIVHVSEKPF TCREIRKDFL ANMRFLHQDA TQTGEKPNNS NKCAVAFYSG KSHHNWGKCS
KAFSHIDTLV QDQRILTREG LFECSKCGKA CTRRCNLIQH QKVHSEERPY ECNECGKFFT
YYSSFIIHQR VHTGERPYVC PECGKSFSQI YSLNSHRKVH TGERPYECGE CGKSFSQRSN
LMQHRRVHTG ERPYECSECG KSFSQNFSLI YHQRVHTGER PHECNECGKS FSRSSSLIHH
RRLHTGERPY ECSKCGKSFK QSSSFSSHRK VHTGERPYVC GECGKSFSHS SNLKNHQRVH
TGERPVECSE CSKSFSCKSN LIKHLRVHTG ERPYECSECG KSFSQSSSLI QHRRVHTGKR
PYQCSQCGKS FGCKSVLIQH QRVHIGEKP*
speed 1.27 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