Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999997 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:1087531T>CN/A show variant in all transcripts   IGV
HGNC symbol RNF212
Ensembl transcript ID ENST00000333673
Genbank transcript ID NM_001193318
UniProt peptide Q495C1
alteration type single base exchange
alteration region CDS
DNA changes c.518A>G
cDNA.584A>G
g.19820A>G
AA changes Q173R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 173
frameshift no
known variant Reference ID: rs615381
databasehomozygous (C/C)heterozygousallele carriers
1000G161566727
ExAC9810811179
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.020.001
-1.6050
(flanking)-0.5430
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased19815wt: 0.37 / mu: 0.48wt: ATTCACACCAAGTCCCCTTGGGGCCAGAAGTTGCTTGAGTT
mu: ATTCACACCAAGTCCCCTTGGGGCCGGAAGTTGCTTGAGTT		 ttgg|GGCC
distance from splice site 272
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      173RTLIHTKSPWGQKLLEFIKHVCYH
mutated  all conserved    173RTLIHTKSPWGRKLLEFIK
Ptroglodytes  no alignment  ENSPTRG00000015822  n/a
Mmulatta  no alignment  ENSMMUG00000015507  n/a
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000055385  n/a
Ggallus  no alignment  ENSGALG00000022952  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000090319  n/a
Dmelanogaster  no homologue    
Celegans  no alignment  K02B12.8  n/a
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 822 / 822
position (AA) of stopcodon in wt / mu AA sequence 274 / 274
position of stopcodon in wt / mu cDNA 888 / 888
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 67 / 67
chromosome 4
strand -1
last intron/exon boundary 313
theoretical NMD boundary in CDS 196
length of CDS 822
coding sequence (CDS) position 518
cDNA position
(for ins/del: last normal base / first normal base)		 584
gDNA position
(for ins/del: last normal base / first normal base)		 19820
chromosomal position
(for ins/del: last normal base / first normal base)		 1087531
original gDNA sequence snippet CACCAAGTCCCCTTGGGGCCAGAAGTTGCTTGAGTTCATAA
altered gDNA sequence snippet CACCAAGTCCCCTTGGGGCCGGAAGTTGCTTGAGTTCATAA
original cDNA sequence snippet CACCAAGTCCCCTTGGGGCCAGAAGTTGCTTGAGTTCATAA
altered cDNA sequence snippet CACCAAGTCCCCTTGGGGCCGGAAGTTGCTTGAGTTCATAA
wildtype AA sequence MANWVFCNRC FQPPHRTSCF SLTNCGHVYC DACLGKGKKN ECLICKAPCR TVLLSKHTDA
DIQAFFMSID SLCKKYSRET SQYLRLSRGC CRLKLCPATS SKEVPRGSTH GSQAAARDPQ
EHWVSTTRAP RPGCRRSQSQ PEAQGNTIQD APHPLTLLHP SRTLIHTKSP WGQKLLEFIK
HVCYHRHQSH RPCAPGWFCQ VLQRPGAVSG EKTQQTRPAP PATCLLCLSC LSGFRHGPWR
SQALPSDLVA PLFVSYTVEV SITNAGWSFP AAV*
mutated AA sequence MANWVFCNRC FQPPHRTSCF SLTNCGHVYC DACLGKGKKN ECLICKAPCR TVLLSKHTDA
DIQAFFMSID SLCKKYSRET SQYLRLSRGC CRLKLCPATS SKEVPRGSTH GSQAAARDPQ
EHWVSTTRAP RPGCRRSQSQ PEAQGNTIQD APHPLTLLHP SRTLIHTKSP WGRKLLEFIK
HVCYHRHQSH RPCAPGWFCQ VLQRPGAVSG EKTQQTRPAP PATCLLCLSC LSGFRHGPWR
SQALPSDLVA PLFVSYTVEV SITNAGWSFP AAV*
speed 0.72 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