Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999996 (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 ENST00000391703
Genbank transcript ID NM_001265600
UniProt peptide Q13398
alteration type single base exchange
alteration region CDS
DNA changes c.758C>T
cDNA.899C>T
g.11035C>T
AA changes A253V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 253
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      253HQRVHTGERPYACPECGKSFSQIY
mutated  not conserved    253HQRVHTGERPYVCPECGKSFSQI
Ptroglodytes  not conserved  ENSPTRG00000011565  327HQRVHTGERPYECPECGKSFSQI
Mmulatta  not conserved  ENSMMUG00000005333  359RPYVCPECGKSFSQI
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 
257279ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
276276CONFLICTQ -> L (in Ref. 1; BAG59491).might get lost (downstream of altered splice site)
285307ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
313335ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
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 1512 / 1512
position (AA) of stopcodon in wt / mu AA sequence 504 / 504
position of stopcodon in wt / mu cDNA 1653 / 1653
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 142 / 142
chromosome 19
strand 1
last intron/exon boundary 176
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1512
coding sequence (CDS) position 758
cDNA position
(for ins/del: last normal base / first normal base)		 899
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 MLENFALTSS LGCWCGVEHE ETPSEQRISG ERVPQFRTSK EGSSSQNADS CEICCLVLRD
ILHLAEHQGT NCGQKLHTCG KQFYISANLQ QHQRQHITEA PFRSYVDTAS FTQSCIVHVS
EKPFTCREIR KDFLANMRFL HQDATQTGEK PNNSNKCAVA FYSGKSHHNW GKCSKAFSHI
DTLVQDQRIL TREGLFECSK CGKACTRRCN LIQHQKVHSE ERPYECNECG KFFTYYSSFI
IHQRVHTGER PYACPECGKS FSQIYSLNSH RKVHTGERPY ECGECGKSFS QRSNLMQHRR
VHTGERPYEC SECGKSFSQN FSLIYHQRVH TGERPHECNE CGKSFSRSSS LIHHRRLHTG
ERPYECSKCG KSFKQSSSFS SHRKVHTGER PYVCGECGKS FSHSSNLKNH QRVHTGERPV
ECSECSKSFS CKSNLIKHLR VHTGERPYEC SECGKSFSQS SSLIQHRRVH TGKRPYQCSQ
CGKSFGCKSV LIQHQRVHIG EKP*
mutated AA sequence MLENFALTSS LGCWCGVEHE ETPSEQRISG ERVPQFRTSK EGSSSQNADS CEICCLVLRD
ILHLAEHQGT NCGQKLHTCG KQFYISANLQ QHQRQHITEA PFRSYVDTAS FTQSCIVHVS
EKPFTCREIR KDFLANMRFL HQDATQTGEK PNNSNKCAVA FYSGKSHHNW GKCSKAFSHI
DTLVQDQRIL TREGLFECSK CGKACTRRCN LIQHQKVHSE ERPYECNECG KFFTYYSSFI
IHQRVHTGER PYVCPECGKS FSQIYSLNSH RKVHTGERPY ECGECGKSFS QRSNLMQHRR
VHTGERPYEC SECGKSFSQN FSLIYHQRVH TGERPHECNE CGKSFSRSSS LIHHRRLHTG
ERPYECSKCG KSFKQSSSFS SHRKVHTGER PYVCGECGKS FSHSSNLKNH QRVHTGERPV
ECSECSKSFS CKSNLIKHLR VHTGERPYEC SECGKSFSQS SSLIQHRRVH TGKRPYQCSQ
CGKSFGCKSV LIQHQRVHIG EKP*
speed 1.08 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