Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999926687619552 (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 ENST00000546057
Genbank transcript ID NM_002562
UniProt peptide Q99572
alteration type single base exchange
alteration region CDS
DNA changes c.1042G>A
cDNA.1185G>A
g.44482G>A
AA changes A348T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 348
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      348IGSTLSYFGLAAVFIDFLIDTYSS
mutated  not conserved    348IGSTLSYFGLATVFIDFLIDTYS
Ptroglodytes  not conserved  ENSPTRG00000005554  348IGSTLSYFGLATVFIDFLIDTYS
Mmulatta  not conserved  ENSMMUG00000006298  348IGSTLSYFGLATVFIDFLINTYS
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000029468  348IGSTLSYFGLATVCIDLLINTYS
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000042440  343IGSTLSYYAITTIFLDWLIGT--
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
335355TRANSMEMHelical; Name=2; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1788 / 1788
position (AA) of stopcodon in wt / mu AA sequence 596 / 596
position of stopcodon in wt / mu cDNA 1931 / 1931
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 144 / 144
chromosome 12
strand 1
last intron/exon boundary 1434
theoretical NMD boundary in CDS 1240
length of CDS 1788
coding sequence (CDS) position 1042
cDNA position
(for ins/del: last normal base / first normal base)		 1185
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 MPACCSCSDV FQYETNKVTR IQSMNYGTIK WFFHVIIFSY VCFALVSDKL YQRKEPVISS
VHTKVKGIAE VKEEIVENGV KKLVHSVFDT ADYTFPLQGN SFFVMTNFLK TEGQEQRLCP
EYPTRRTLCS SDRGCKKGWM DPQSKGIQTG RCVVYEGNQK TCEVSAWCPI EAVEEAPRPA
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 MPACCSCSDV FQYETNKVTR IQSMNYGTIK WFFHVIIFSY VCFALVSDKL YQRKEPVISS
VHTKVKGIAE VKEEIVENGV KKLVHSVFDT ADYTFPLQGN SFFVMTNFLK TEGQEQRLCP
EYPTRRTLCS SDRGCKKGWM DPQSKGIQTG RCVVYEGNQK TCEVSAWCPI EAVEEAPRPA
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 1.05 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