Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999992152874 (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 ENST00000428024
Genbank transcript ID NM_001171811
UniProt peptide P04062
alteration type single base exchange
alteration region CDS
DNA changes c.880T>G
cDNA.1383T>G
g.8535T>G
AA changes C294G Score: 159 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 294
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      294FPNTMLFASEACVGSKFWEQSVRL
mutated  not conserved    294FPNTMLFASEAGVGSKFW
Ptroglodytes  all identical  ENSPTRG00000001416  381FPNTMLFASEACVGSKFW
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000028048  360FPNTMLFASEACVGSKFW
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000010884  367YPEYYLFGTEACAGWNPL
Drerio  all identical  ENSDARG00000076058  363YPDYFLFATEACAGWSPVDRG
Dmelanogaster  all identical  FBgn0051148  408APDKILIVSESCIGDKPWQAAAP
Celegans  all identical  Y4C6B.6  364FPDYFLLATEACAG-YFPADGPK
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
292301HELIXlost
303308HELIXmight get lost (downstream of altered splice site)
309309CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
311314TURNmight get lost (downstream of altered splice site)
315323STRANDmight get lost (downstream of altered splice site)
324326HELIXmight get lost (downstream of altered splice site)
329335HELIXmight get lost (downstream of altered splice site)
338341HELIXmight get lost (downstream of altered splice site)
346352STRANDmight get lost (downstream of altered splice site)
354356HELIXmight get lost (downstream of altered splice site)
359369HELIXmight get lost (downstream of altered splice site)
373381STRANDmight get lost (downstream of altered splice site)
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 1350 / 1350
position (AA) of stopcodon in wt / mu AA sequence 450 / 450
position of stopcodon in wt / mu cDNA 1853 / 1853
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 504 / 504
chromosome 1
strand -1
last intron/exon boundary 1748
theoretical NMD boundary in CDS 1194
length of CDS 1350
coding sequence (CDS) position 880
cDNA position
(for ins/del: last normal base / first normal base)		 1383
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 MELSMGPIQA NHTGTGLLLT LQPEQKFQKV KGFGGAMTDA AALNILALSP PAQNLLLKSY
FSEEGIGYNI IRVPMASCDF SIRTYTYADT PDDFQLHNFS LPEEDTKLKI PLIHRALQLA
QRPVSLLASP WTSPTWLKTN GAVNGKGSLK GQPGDIYHQT WARYFVKFLD AYAEHKLQFW
AVTAENEPSA GLLSGYPFQC LGFTPEHQRD FIARDLGPTL ANSTHHNVRL LMLDDQRLLL
PHWAKVVLTD PEAAKYVHGI AVHWYLDFLA PAKATLGETH RLFPNTMLFA SEACVGSKFW
EQSVRLGSWD RGMQYSHSII TNLLYHVVGW TDWNLALNPE GGPNWVRNFV DSPIIVDITK
DTFYKQPMFY HLGHFSKFIP EGSQRVGLVA SQKNDLDAVA LMHPDGSAVV VVLNRSSKDV
PLTIKDPAVG FLETISPGYS IHTYLWRRQ*
mutated AA sequence MELSMGPIQA NHTGTGLLLT LQPEQKFQKV KGFGGAMTDA AALNILALSP PAQNLLLKSY
FSEEGIGYNI IRVPMASCDF SIRTYTYADT PDDFQLHNFS LPEEDTKLKI PLIHRALQLA
QRPVSLLASP WTSPTWLKTN GAVNGKGSLK GQPGDIYHQT WARYFVKFLD AYAEHKLQFW
AVTAENEPSA GLLSGYPFQC LGFTPEHQRD FIARDLGPTL ANSTHHNVRL LMLDDQRLLL
PHWAKVVLTD PEAAKYVHGI AVHWYLDFLA PAKATLGETH RLFPNTMLFA SEAGVGSKFW
EQSVRLGSWD RGMQYSHSII TNLLYHVVGW TDWNLALNPE GGPNWVRNFV DSPIIVDITK
DTFYKQPMFY HLGHFSKFIP EGSQRVGLVA SQKNDLDAVA LMHPDGSAVV VVLNRSSKDV
PLTIKDPAVG FLETISPGYS IHTYLWRRQ*
speed 0.75 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