Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM022481)
  • known disease mutation: rs2130 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:183963586A>GN/A show variant in all transcripts   IGV
HGNC symbol ALG3
Ensembl transcript ID ENST00000418734
Genbank transcript ID N/A
UniProt peptide Q92685
alteration type single base exchange
alteration region intron
DNA changes g.3751T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs119103237
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs2130 (pathogenic for ALG3-CDG) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM022481)

known disease mutation at this position, please check HGMD for details (HGMD ID CM022481)
known disease mutation at this position, please check HGMD for details (HGMD ID CM022481)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.0951
4.2221
(flanking)3.3711
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 increased3742wt: 0.3767 / mu: 0.4272 (marginal change - not scored)wt: CTTGTCTTCTTCCAGACACAGAGATTGACTGGAAGGCCTAC
mu: CTTGTCTTCTTCCAGACACAGAGATTGACCGGAAGGCCTAC		 acag|AGAT
Donor marginally increased3751wt: 0.9050 / mu: 0.9580 (marginal change - not scored)wt: TTGACTGGAAGGCCT
mu: TTGACCGGAAGGCCT		 GACT|ggaa
Donor increased3750wt: 0.81 / mu: 0.97wt: ATTGACTGGAAGGCC
mu: ATTGACCGGAAGGCC		 TGAC|tgga
distance from splice site 183
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
4161TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
95115TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
123143TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
149169TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
172192TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
203223TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
231251TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
289309TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
332352TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
356376TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
407427TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 91 / 91
chromosome 3
strand -1
last intron/exon boundary 1077
theoretical NMD boundary in CDS 936
length of CDS 1149
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 3751
chromosomal position
(for ins/del: last normal base / first normal base)		 183963586
original gDNA sequence snippet TTCCAGACACAGAGATTGACTGGAAGGCCTACATGGCCGAG
altered gDNA sequence snippet TTCCAGACACAGAGATTGACCGGAAGGCCTACATGGCCGAG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MAAARLARAA PAAAGAALHA AGGRLPLPGG GGHHLLGHSQ GGMYPAGFVY IFMGLYYATS
RGTDIRMAQN IFAVLYLATL LLVFLIYHQT CKVPPFVFFF MCCASYRVHS IFVLRLFNDP
VAMVLLFLSI NLLLAQRWGW GCCFFSLAVS VKMNVLLFAP GLLFLLLTQF GFRGALPKLG
ICAGLQVVLG LPFLLENPSG YLSRSFDLGR QFLFHWTVNW RFLPEALFLH RAFHLALLTA
HLTLLLLFAL CRWHRTGESI LSLLRDPSKR KVPPQPLTPN QIVSTLFTSN FIGICFSRSL
HYQFYVWYFH TLPYLLWAMP ARWLTHLLRL LVLGLIELSW NTYPSTSCSS AALHICHAVI
LLQLWLGPQP FPKSTQHSKK AH*
mutated AA sequence N/A
speed 0.90 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