Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999965014443 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM035927)
  • known disease mutation at this position (HGMD CM960048)
  • known disease mutation: rs13681 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:21903932G>AN/A show variant in all transcripts   IGV
HGNC symbol ALPL
Ensembl transcript ID ENST00000374829
Genbank transcript ID N/A
UniProt peptide P05186
alteration type single base exchange
alteration region CDS
DNA changes c.304G>A
cDNA.635G>A
g.68075G>A
AA changes G102R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 102
frameshift no
known variant Reference ID: rs121918016
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs13681 (pathogenic for Infantile hypophosphatasia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960048)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960048)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035927)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960048)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035927)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035927)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960048)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035927)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035927)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960048)
regulatory features Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
USF1, Transcription Factor, USF1 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.7240.87
4.8541
(flanking)4.8541
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 increased68072wt: 0.3213 / mu: 0.3418 (marginal change - not scored)wt: CCCACGGCGGGGAGG
mu: CCCACGGCAGGGAGG		 CACG|gcgg
Donor increased68075wt: 0.36 / mu: 0.95wt: ACGGCGGGGAGGACG
mu: ACGGCAGGGAGGACG		 GGCG|ggga
Donor gained680710.90mu: ACCCACGGCAGGGAG CCAC|ggca
distance from splice site 57
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      102SAVPLRHETHGGEDVAVFSKGPMA
mutated  not conserved    102SAVPLRHETHGREDVAVFSKGPM
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002217  456SAVPLRHETHGGEDVAVFSKGPM
Fcatus  all identical  ENSFCAG00000002960  456SAVPLRHETHGGEDVAVFAKGPM
Mmusculus  all identical  ENSMUSG00000028766  456SAVPLRHETHGGEDVAVFAKGPM
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000004463  456AAVPLSMETHGGEDVAVFAKGPM
Drerio  all identical  ENSDARG00000015546  492SAVPLRMETHGGEDVAIFSKGPM
Dmelanogaster  all identical  FBgn0043791  490STVPLESETHGGDDVAVFASGPY
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
104104CONFLICTN -> K (in Ref. 3; CAA32376).might get lost (downstream of altered splice site)
110110ACT_SITEPhosphoserine intermediate.might get lost (downstream of altered splice site)
140140CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
173173METALMagnesium (Potential).might get lost (downstream of altered splice site)
230230CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
271271CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
303303CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
332332METALMagnesium (Potential).might get lost (downstream of altered splice site)
337337METALZinc 1 (Potential).might get lost (downstream of altered splice site)
341341METALZinc 1 (Potential).might get lost (downstream of altered splice site)
361361CONFLICTQ -> H (in Ref. 1; BAA32129).might get lost (downstream of altered splice site)
378378METALZinc 2 (Potential).might get lost (downstream of altered splice site)
379379METALZinc 2 (Potential).might get lost (downstream of altered splice site)
430430CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
446446CONFLICTA -> P (in Ref. 1; BAA32129).might get lost (downstream of altered splice site)
454454METALZinc 1 (Potential).might get lost (downstream of altered splice site)
502502LIPIDGPI-anchor amidated serine (Probable).might get lost (downstream of altered splice site)
503524PROPEPRemoved in mature form (Probable). /FTId=PRO_0000024024.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 513 / 513
position (AA) of stopcodon in wt / mu AA sequence 171 / 171
position of stopcodon in wt / mu cDNA 844 / 844
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 332 / 332
chromosome 1
strand 1
last intron/exon boundary 579
theoretical NMD boundary in CDS 197
length of CDS 513
coding sequence (CDS) position 304
cDNA position
(for ins/del: last normal base / first normal base)		 635
gDNA position
(for ins/del: last normal base / first normal base)		 68075
chromosomal position
(for ins/del: last normal base / first normal base)		 21903932
original gDNA sequence snippet TGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTC
altered gDNA sequence snippet TGCGCCACGAGACCCACGGCAGGGAGGACGTGGCCGTCTTC
original cDNA sequence snippet TGCGCCACGAGACCCACGGCGGGGAGGACGTGGCCGTCTTC
altered cDNA sequence snippet TGCGCCACGAGACCCACGGCAGGGAGGACGTGGCCGTCTTC
wildtype AA sequence MDRAIGQAGS LTSSEDTLTV VTADHSHVFT FGGYTPRGNS IFGLAPMLSD TDKKPFTAIL
YGNGPGYKVV GGERENVSMV DYAHNNYQAQ SAVPLRHETH GGEDVAVFSK GPMAHLLHGV
HEQNYVPHVM AYAACIGANL GHCAPASSAG SLAAGPLLLA LALYPLSVLF *
mutated AA sequence MDRAIGQAGS LTSSEDTLTV VTADHSHVFT FGGYTPRGNS IFGLAPMLSD TDKKPFTAIL
YGNGPGYKVV GGERENVSMV DYAHNNYQAQ SAVPLRHETH GREDVAVFSK GPMAHLLHGV
HEQNYVPHVM AYAACIGANL GHCAPASSAG SLAAGPLLLA LALYPLSVLF *
speed 1.24 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