Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999979892666      (explain)
Summary
  • amino acid sequence changed
  • known as potential disease variant: rs4294 (probable pathogenic)
  • known disease mutation at this position (HGMD CM057088)
  • known disease mutation at this position (HGMD CM940816)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:155205517T>AN/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.1343A>T
cDNA.1576A>T
g.9137A>T
AA changes D448V Score: 152 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 448
frameshift no
known variant Reference ID: rs77369218
Allele 'A' was neither found in ExAC nor 1000G.
known as potential disease variant: rs4294 (probable pathogenic for Gaucher's disease, type 1|Subacute neuronopathic Gaucher's disease|Gaucher disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940816)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940816)
known disease mutation at this position, please check HGMD for details (HGMD ID CM057088)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940816)
known disease mutation at this position, please check HGMD for details (HGMD ID CM057088)
known disease mutation at this position, please check HGMD for details (HGMD ID CM057088)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940816)
known disease mutation at this position, please check HGMD for details (HGMD ID CM057088)
known disease mutation at this position, please check HGMD for details (HGMD ID CM057088)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940816)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0020.994
2.441
(flanking)4.6781
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased9135wt: 0.9972 / mu: 0.9972 (marginal change - not scored)wt: ACCAAGGACACGTTT
mu: ACCAAGGTCACGTTT		 CAAG|gaca
Donor increased9129wt: 0.64 / mu: 0.72wt: GACATCACCAAGGAC
mu: GACATCACCAAGGTC		 CATC|acca
Donor increased9130wt: 0.73 / mu: 0.96wt: ACATCACCAAGGACA
mu: ACATCACCAAGGTCA		 ATCA|ccaa
distance from splice site 46
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      448VDSPIIVDITKDTFYKQPMFYHLG
mutated  not conserved    448VDSPIIVDITKVTFYKQPMFYHL
Ptroglodytes  all identical  ENSPTRG00000001416  448VDSPIIVDITKDTFYKQPMFYHL
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000028048  427IIVDIPKDAFYKQPMFYHL
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000010884  434VDSTVIVDAQRDVFYKQPTFYSM
Drerio  all identical  ENSDARG00000076058  430VDSPIIVDPSKDIFYKQPTFYSM
Dmelanogaster  all conserved  FBgn0051148  475VDAPVIVNTTTFEEFYKQPMFY
Celegans  not conserved  Y4C6B.6  429VDSTIIVNATAQEYYKQPIWHVM
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
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 1343
cDNA position
(for ins/del: last normal base / first normal base)		 1576
gDNA position
(for ins/del: last normal base / first normal base)		 9137
chromosomal position
(for ins/del: last normal base / first normal base)		 155205517
original gDNA sequence snippet CATTGTAGACATCACCAAGGACACGTTTTACAAACAGCCCA
altered gDNA sequence snippet CATTGTAGACATCACCAAGGTCACGTTTTACAAACAGCCCA
original cDNA sequence snippet CATTGTAGACATCACCAAGGACACGTTTTACAAACAGCCCA
altered cDNA sequence snippet CATTGTAGACATCACCAAGGTCACGTTTTACAAACAGCCCA
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 CVGSKFWEQS VRLGSWDRGM QYSHSIITNL LYHVVGWTDW
NLALNPEGGP NWVRNFVDSP IIVDITKVTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK
NDLDAVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ*
speed 0.24 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