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 ENST00000420680
Genbank transcript ID N/A
UniProt peptide Q13398
alteration type single base exchange
alteration region CDS
DNA changes c.953C>T
cDNA.953C>T
g.11035C>T
AA changes A318V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 318
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      318HQRVHTGERPYACPECGKSFSQIY
mutated  not conserved    318HQRVHTGERPYVCPECGKSFSQI
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 
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 1707 / 1707
position (AA) of stopcodon in wt / mu AA sequence 569 / 569
position of stopcodon in wt / mu cDNA 1707 / 1707
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 1 / 1
chromosome 19
strand 1
last intron/exon boundary 230
theoretical NMD boundary in CDS 179
length of CDS 1707
coding sequence (CDS) position 953
cDNA position
(for ins/del: last normal base / first normal base)		 953
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 MISAYCNLHL LGSSDSPASA SQVAGTTGMR HHAQGSVTFE DVAVYFSWEE WDLLDEAQKH
LYFDVMLENF ALTSSLGCWC GVEHEETPSE QRISGERVPQ FRTSKEGSSS QNADSCEICC
LVLRDILHLA EHQGTNCGQK LHTCGKQFYI SANLQQHQRQ HITEAPFRSY VDTASFTQSC
IVHVSEKPFT CREIRKDFLA NMRFLHQDAT QTGEKPNNSN KCAVAFYSGK SHHNWGKCSK
AFSHIDTLVQ DQRILTREGL FECSKCGKAC TRRCNLIQHQ KVHSEERPYE CNECGKFFTY
YSSFIIHQRV HTGERPYACP ECGKSFSQIY SLNSHRKVHT GERPYECGEC GKSFSQRSNL
MQHRRVHTGE RPYECSECGK SFSQNFSLIY HQRVHTGERP HECNECGKSF SRSSSLIHHR
RLHTGERPYE CSKCGKSFKQ SSSFSSHRKV HTGERPYVCG ECGKSFSHSS NLKNHQRVHT
GERPVECSEC SKSFSCKSNL IKHLRVHTGE RPYECSECGK SFSQSSSLIQ HRRVHTGKRP
YQCSQCGKSF GCKSVLIQHQ RVHIGEKP*
mutated AA sequence MISAYCNLHL LGSSDSPASA SQVAGTTGMR HHAQGSVTFE DVAVYFSWEE WDLLDEAQKH
LYFDVMLENF ALTSSLGCWC GVEHEETPSE QRISGERVPQ FRTSKEGSSS QNADSCEICC
LVLRDILHLA EHQGTNCGQK LHTCGKQFYI SANLQQHQRQ HITEAPFRSY VDTASFTQSC
IVHVSEKPFT CREIRKDFLA NMRFLHQDAT QTGEKPNNSN KCAVAFYSGK SHHNWGKCSK
AFSHIDTLVQ DQRILTREGL FECSKCGKAC TRRCNLIQHQ KVHSEERPYE CNECGKFFTY
YSSFIIHQRV HTGERPYVCP ECGKSFSQIY SLNSHRKVHT GERPYECGEC GKSFSQRSNL
MQHRRVHTGE RPYECSECGK SFSQNFSLIY HQRVHTGERP HECNECGKSF SRSSSLIHHR
RLHTGERPYE CSKCGKSFKQ SSSFSSHRKV HTGERPYVCG ECGKSFSHSS NLKNHQRVHT
GERPVECSEC SKSFSCKSNL IKHLRVHTGE RPYECSECGK SFSQSSSLIQ HRRVHTGKRP
YQCSQCGKSF GCKSVLIQHQ RVHIGEKP*
speed 1.11 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