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mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999958360735568 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM098354)
  • protein features (might be) affected
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:121615103G>AN/A show variant in all transcripts   IGV
HGNC symbol P2RX7
Ensembl transcript ID ENST00000328963
Genbank transcript ID N/A
UniProt peptide Q99572
alteration type single base exchange
alteration region CDS
DNA changes c.532G>A
cDNA.986G>A
g.44482G>A
AA changes A178T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 178
frameshift no
known variant Reference ID: rs1718119
databasehomozygous (A/A)heterozygousallele carriers
1000G3089991307
ExAC84411588524326

known disease mutation at this position, please check HGMD for details (HGMD ID CM098354)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9571
1.1840.998
(flanking)4.0780.992
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally decreased44478wt: 0.9748 / mu: 0.9635 (marginal change - not scored)wt: GCTTGTCTGCATTCTCCCCAGGCCGCTGTGTTCATCGACTT
mu: GCTTGTCTGCATTCTCCCCAGGCCACTGTGTTCATCGACTT		 ccag|GCCG
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      178IGSTLSYFGLAAVFIDFLIDTYSS
mutated  not conserved    178IGSTLSYFGLATVF
Ptroglodytes  not conserved  ENSPTRG00000005554  348IGSTLSYFGLATVFIDFLIDT
Mmulatta  not conserved  ENSMMUG00000006298  348IGSTLSYFGLATVFIDFLINT
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000029468  348IGSTLSYFGLATVCIDLLINT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000042440  343IGSTLSYYAITTIFLDW
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
47334TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1278 / 1278
position (AA) of stopcodon in wt / mu AA sequence 426 / 426
position of stopcodon in wt / mu cDNA 1732 / 1732
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 455 / 455
chromosome 12
strand 1
last intron/exon boundary 1235
theoretical NMD boundary in CDS 730
length of CDS 1278
coding sequence (CDS) position 532
cDNA position
(for ins/del: last normal base / first normal base)		 986
gDNA position
(for ins/del: last normal base / first normal base)		 44482
chromosomal position
(for ins/del: last normal base / first normal base)		 121615103
original gDNA sequence snippet GTCTGCATTCTCCCCAGGCCGCTGTGTTCATCGACTTCCTC
altered gDNA sequence snippet GTCTGCATTCTCCCCAGGCCACTGTGTTCATCGACTTCCTC
original cDNA sequence snippet TCTCCTACTTCGGTCTGGCCGCTGTGTTCATCGACTTCCTC
altered cDNA sequence snippet TCTCCTACTTCGGTCTGGCCACTGTGTTCATCGACTTCCTC
wildtype AA sequence MDGPAEQRPA LLNSAENFTV LIKNNIDFPG HNYTTRNILP GLNITCTFHK TQNPQCPIFR
LGDIFRETGD NFSDVAIQGG IMGIEIYWDC NLDRWFHHCR PKYSFRRLDD KTTNVSLYPG
YNFRYAKYYK ENNVEKRTLI KVFGIRFDIL VFGTGGKFDI IQLVVYIGST LSYFGLAAVF
IDFLIDTYSS NCCRSHIYPW CKCCQPCVVN EYYYRKKCES IVEPKPTLKY VSFVDESHIR
MVNQQLLGRS LQDVKGQEVP RPAMDFTDLS RLPLALHDTP PIPGQPEEIQ LLRKEATPRS
RDSPVWCQCG SCLPSQLPES HRCLEELCCR KKPGACITTS ELFRKLVLSR HVLQFLLLYQ
EPLLALDVDS TNSRLRHCAY RCYATWRFGS QDMADFANLP SCCRWRIRKE FPKSEGQYSG
FKSPY*
mutated AA sequence MDGPAEQRPA LLNSAENFTV LIKNNIDFPG HNYTTRNILP GLNITCTFHK TQNPQCPIFR
LGDIFRETGD NFSDVAIQGG IMGIEIYWDC NLDRWFHHCR PKYSFRRLDD KTTNVSLYPG
YNFRYAKYYK ENNVEKRTLI KVFGIRFDIL VFGTGGKFDI IQLVVYIGST LSYFGLATVF
IDFLIDTYSS NCCRSHIYPW CKCCQPCVVN EYYYRKKCES IVEPKPTLKY VSFVDESHIR
MVNQQLLGRS LQDVKGQEVP RPAMDFTDLS RLPLALHDTP PIPGQPEEIQ LLRKEATPRS
RDSPVWCQCG SCLPSQLPES HRCLEELCCR KKPGACITTS ELFRKLVLSR HVLQFLLLYQ
EPLLALDVDS TNSRLRHCAY RCYATWRFGS QDMADFANLP SCCRWRIRKE FPKSEGQYSG
FKSPY*
speed 0.99 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