Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.980523950027478 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM023571)
  • known disease mutation: rs7760 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:202141631C>TN/A show variant in all transcripts   IGV
HGNC symbol CASP8
Ensembl transcript ID ENST00000264275
Genbank transcript ID NM_001228
UniProt peptide Q14790
alteration type single base exchange
alteration region CDS
DNA changes c.793C>T
cDNA.1073C>T
g.43466C>T
AA changes R265W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 265
frameshift no
known variant Reference ID: rs17860424
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC022

known disease mutation: rs7760 (pathogenic for Autoimmune lymphoproliferative syndrome type 2B) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)

known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)
known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2290.945
0.6540.941
(flanking)2.8340.936
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased43462wt: 0.23 / mu: 0.57wt: GCAAAAGCACGGGAG
mu: GCAAAAGCATGGGAG		 AAAA|gcac
Donor marginally increased43469wt: 0.9913 / mu: 0.9916 (marginal change - not scored)wt: CACGGGAGAAAGTGC
mu: CATGGGAGAAAGTGC		 CGGG|agaa
Donor increased43470wt: 0.34 / mu: 0.38wt: ACGGGAGAAAGTGCC
mu: ATGGGAGAAAGTGCC		 GGGA|gaaa
distance from splice site 61
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      265LIINNHNFAKAREKVPKLHSIRDR
mutated  not conserved    265LIINNHNFAKAWEKVPKLHSIRD
Ptroglodytes  all identical  ENSPTRG00000012801  307LIINNHNFAKAREKVPKLHSIRD
Mmulatta  all identical  ENSMMUG00000031296  307LIINNYDFTKAREKVPKLHSIRD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000026029  250LIINNHDFSKAREDITQLRKMKD
Ggallus  all identical  ENSGALG00000008355  238LILNNHNFAKAREAVPELRRMKD
Trubripes  not conserved  ENSTRUG00000009617  133VIINNENFL----------DMKQ
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0019972  108LIFNHEHF-----EVPTLKS---
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
263276HELIXlost
280286STRANDmight get lost (downstream of altered splice site)
289301HELIXmight get lost (downstream of altered splice site)
294294CONFLICTE -> D (in Ref. 5; AAD24962).might get lost (downstream of altered splice site)
310316STRANDmight get lost (downstream of altered splice site)
317317ACT_SITEmight get lost (downstream of altered splice site)
322324STRANDmight get lost (downstream of altered splice site)
326328STRANDmight get lost (downstream of altered splice site)
330332STRANDmight get lost (downstream of altered splice site)
331331CONFLICTA -> P (in Ref. 2; AAC50602 and 5; AAD24962).might get lost (downstream of altered splice site)
333337HELIXmight get lost (downstream of altered splice site)
334334MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
338340HELIXmight get lost (downstream of altered splice site)
342344TURNmight get lost (downstream of altered splice site)
343344CONFLICTLK -> FG (in Ref. 8; AAL87631).might get lost (downstream of altered splice site)
346348HELIXmight get lost (downstream of altered splice site)
353359STRANDmight get lost (downstream of altered splice site)
360360ACT_SITEmight get lost (downstream of altered splice site)
362364STRANDmight get lost (downstream of altered splice site)
375384PROPEP /FTId=PRO_0000004630.might get lost (downstream of altered splice site)
377379STRANDmight get lost (downstream of altered splice site)
387387MUTAGENS->A: Impaired CDK1-mediated phosphorylation and enhanced apoptosis.might get lost (downstream of altered splice site)
387387MOD_RESPhosphoserine; by CDK1.might get lost (downstream of altered splice site)
395405STRANDmight get lost (downstream of altered splice site)
412414STRANDmight get lost (downstream of altered splice site)
415417TURNmight get lost (downstream of altered splice site)
420432HELIXmight get lost (downstream of altered splice site)
433435HELIXmight get lost (downstream of altered splice site)
439451HELIXmight get lost (downstream of altered splice site)
456459TURNmight get lost (downstream of altered splice site)
465468STRANDmight get lost (downstream of altered splice site)
471473STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1491 / 1491
position (AA) of stopcodon in wt / mu AA sequence 497 / 497
position of stopcodon in wt / mu cDNA 1771 / 1771
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 281 / 281
chromosome 2
strand 1
last intron/exon boundary 1636
theoretical NMD boundary in CDS 1305
length of CDS 1491
coding sequence (CDS) position 793
cDNA position
(for ins/del: last normal base / first normal base)		 1073
gDNA position
(for ins/del: last normal base / first normal base)		 43466
chromosomal position
(for ins/del: last normal base / first normal base)		 202141631
original gDNA sequence snippet ATCACAATTTTGCAAAAGCACGGGAGAAAGTGCCCAAACTT
altered gDNA sequence snippet ATCACAATTTTGCAAAAGCATGGGAGAAAGTGCCCAAACTT
original cDNA sequence snippet ATCACAATTTTGCAAAAGCACGGGAGAAAGTGCCCAAACTT
altered cDNA sequence snippet ATCACAATTTTGCAAAAGCATGGGAGAAAGTGCCCAAACTT
wildtype AA sequence MDFSRNLYDI GEQLDSEDLA SLKFLSLDYI PQRKQEPIKD ALMLFQRLQE KRMLEESNLS
FLKELLFRIN RLDLLITYLN TRKEEMEREL QTPGRAQISA YRFHFCRMSW AEANSQCQTQ
SVPFWRRVDH LLIRVMLYQI SEEVSRSELR SFKFLLQEEI SKCKLDDDMN LLDIFIEMEK
RVILGEGKLD ILKRVCAQIN KSLLKIINDY EEFSKGEELC GVMTISDSPR EQDSESQTLD
KVYQMKSKPR GYCLIINNHN FAKAREKVPK LHSIRDRNGT HLDAGALTTT FEELHFEIKP
HDDCTVEQIY EILKIYQLMD HSNMDCFICC ILSHGDKGII YGTDGQEAPI YELTSQFTGL
KCPSLAGKPK VFFIQACQGD NYQKGIPVET DSEEQPYLEM DLSSPQTRYI PDEADFLLGM
ATVNNCVSYR NPAEGTWYIQ SLCQSLRERC PRGDDILTIL TEVNYEVSNK DDKKNMGKQM
PQPTFTLRKK LVFPSD*
mutated AA sequence MDFSRNLYDI GEQLDSEDLA SLKFLSLDYI PQRKQEPIKD ALMLFQRLQE KRMLEESNLS
FLKELLFRIN RLDLLITYLN TRKEEMEREL QTPGRAQISA YRFHFCRMSW AEANSQCQTQ
SVPFWRRVDH LLIRVMLYQI SEEVSRSELR SFKFLLQEEI SKCKLDDDMN LLDIFIEMEK
RVILGEGKLD ILKRVCAQIN KSLLKIINDY EEFSKGEELC GVMTISDSPR EQDSESQTLD
KVYQMKSKPR GYCLIINNHN FAKAWEKVPK LHSIRDRNGT HLDAGALTTT FEELHFEIKP
HDDCTVEQIY EILKIYQLMD HSNMDCFICC ILSHGDKGII YGTDGQEAPI YELTSQFTGL
KCPSLAGKPK VFFIQACQGD NYQKGIPVET DSEEQPYLEM DLSSPQTRYI PDEADFLLGM
ATVNNCVSYR NPAEGTWYIQ SLCQSLRERC PRGDDILTIL TEVNYEVSNK DDKKNMGKQM
PQPTFTLRKK LVFPSD*
speed 1.32 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