Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999894406135 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM025357)
  • known disease mutation at this position (HGMD CM900105)
  • known disease mutation: rs4319 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:155206119A>CN/A show variant in all transcripts   IGV
HGNC symbol GBA
Ensembl transcript ID ENST00000327247
Genbank transcript ID NM_001005741
UniProt peptide P04062
alteration type single base exchange
alteration region CDS
DNA changes c.1141T>G
cDNA.1374T>G
g.8535T>G
AA changes C381G Score: 159 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 381
frameshift no
known variant Reference ID: rs121908306
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs4319 (pathogenic for Acute neuronopathic Gaucher's disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)
known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.3461
3.5941
(flanking)0.4581
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 increased8530wt: 0.9011 / mu: 0.9329 (marginal change - not scored)wt: CACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAGT
mu: CACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAGT		 caga|GGCC
Acc increased8529wt: 0.62 / mu: 0.69wt: ACACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAG
mu: ACACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAG		 tcag|AGGC
Acc marginally increased8527wt: 0.7574 / mu: 0.8371 (marginal change - not scored)wt: CAACACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCA
mu: CAACACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCA		 cctc|AGAG
Acc increased8528wt: 0.56 / mu: 0.67wt: AACACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAA
mu: AACACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAA		 ctca|GAGG
Donor marginally increased8530wt: 0.6585 / mu: 0.6880 (marginal change - not scored)wt: CTCAGAGGCCTGTGT
mu: CTCAGAGGCCGGTGT		 CAGA|ggcc
distance from splice site 84
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      381FPNTMLFASEACVGSKFWEQSVRL
mutated  not conserved    381FPNTMLFASEAGVGSKFWEQSVR
Ptroglodytes  all identical  ENSPTRG00000001416  381FPNTMLFASEACVGSKFWEQSVR
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000028048  360CVGSKFWEQSVR
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000010884  367LFGTEACAGWNPLDRGVK
Drerio  all identical  ENSDARG00000076058  363YPDYFLFATEACAGWSPVDRGVR
Dmelanogaster  all identical  FBgn0051148  408APDKILIVSESCIGDKPWQAAAP
Celegans  all identical  Y4C6B.6  363LATEACAG-YFPADGPK
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
373381STRANDlost
379379ACT_SITENucleophile.might get lost (downstream of altered splice site)
379379MUTAGENE->G: Decreases activity 1000-fold.might get lost (downstream of altered splice site)
386388STRANDmight get lost (downstream of altered splice site)
396411HELIXmight get lost (downstream of altered splice site)
414424STRANDmight get lost (downstream of altered splice site)
426428STRANDmight get lost (downstream of altered splice site)
440444STRANDmight get lost (downstream of altered splice site)
445447HELIXmight get lost (downstream of altered splice site)
449452STRANDmight get lost (downstream of altered splice site)
454463HELIXmight get lost (downstream of altered splice site)
470470CONFLICTS -> I (in Ref. 15; AA sequence).might get lost (downstream of altered splice site)
471479STRANDmight get lost (downstream of altered splice site)
482489STRANDmight get lost (downstream of altered splice site)
495501STRANDmight get lost (downstream of altered splice site)
501501CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
503505STRANDmight get lost (downstream of altered splice site)
507513STRANDmight get lost (downstream of altered splice site)
514516TURNmight get lost (downstream of altered splice site)
517523STRANDmight get lost (downstream of altered splice site)
527533STRANDmight get lost (downstream of altered splice site)
534534CONFLICTR -> H (in Ref. 1; AAA35873).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1611 / 1611
position (AA) of stopcodon in wt / mu AA sequence 537 / 537
position of stopcodon in wt / mu cDNA 1844 / 1844
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 234 / 234
chromosome 1
strand -1
last intron/exon boundary 1739
theoretical NMD boundary in CDS 1455
length of CDS 1611
coding sequence (CDS) position 1141
cDNA position
(for ins/del: last normal base / first normal base)		 1374
gDNA position
(for ins/del: last normal base / first normal base)		 8535
chromosomal position
(for ins/del: last normal base / first normal base)		 155206119
original gDNA sequence snippet TGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAGTTCTGG
altered gDNA sequence snippet TGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAGTTCTGG
original cDNA sequence snippet TGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAGTTCTGG
altered cDNA sequence snippet TGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAGTTCTGG
wildtype AA sequence MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT
YCDSFDPPTF PALGTFSRYE STRSGRRMEL SMGPIQANHT GTGLLLTLQP EQKFQKVKGF
GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYNIIRV PMASCDFSIR TYTYADTPDD
FQLHNFSLPE EDTKLKIPLI HRALQLAQRP VSLLASPWTS PTWLKTNGAV NGKGSLKGQP
GDIYHQTWAR YFVKFLDAYA EHKLQFWAVT AENEPSAGLL SGYPFQCLGF TPEHQRDFIA
RDLGPTLANS THHNVRLLML DDQRLLLPHW AKVVLTDPEA AKYVHGIAVH WYLDFLAPAK
ATLGETHRLF PNTMLFASEA CVGSKFWEQS VRLGSWDRGM QYSHSIITNL LYHVVGWTDW
NLALNPEGGP NWVRNFVDSP IIVDITKDTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK
NDLDAVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ*
mutated AA sequence MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT
YCDSFDPPTF PALGTFSRYE STRSGRRMEL SMGPIQANHT GTGLLLTLQP EQKFQKVKGF
GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYNIIRV PMASCDFSIR TYTYADTPDD
FQLHNFSLPE EDTKLKIPLI HRALQLAQRP VSLLASPWTS PTWLKTNGAV NGKGSLKGQP
GDIYHQTWAR YFVKFLDAYA EHKLQFWAVT AENEPSAGLL SGYPFQCLGF TPEHQRDFIA
RDLGPTLANS THHNVRLLML DDQRLLLPHW AKVVLTDPEA AKYVHGIAVH WYLDFLAPAK
ATLGETHRLF PNTMLFASEA GVGSKFWEQS VRLGSWDRGM QYSHSIITNL LYHVVGWTDW
NLALNPEGGP NWVRNFVDSP IIVDITKDTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK
NDLDAVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ*
speed 0.66 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