Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999992904591756 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM127629)
  • known disease mutation at this position (HGMD CM138789)
  • known disease mutation at this position (HGMD CM980062)
  • known disease mutation: rs13675 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:21889712G>AN/A show variant in all transcripts   IGV
HGNC symbol ALPL
Ensembl transcript ID ENST00000540617
Genbank transcript ID NM_001127501
UniProt peptide P05186
alteration type single base exchange
alteration region CDS
DNA changes c.242G>A
cDNA.499G>A
g.53855G>A
AA changes R81H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 81
frameshift no
known variant Reference ID: rs121918011
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC02424

known disease mutation: rs13675 (pathogenic for Infantile hypophosphatasia|Adult hypophosphatasia|Childhood hypophosphatasia|Hypophosphatasia|none provided|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM980062)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980062)
known disease mutation at this position, please check HGMD for details (HGMD ID CM127629)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980062)
known disease mutation at this position, please check HGMD for details (HGMD ID CM127629)
known disease mutation at this position, please check HGMD for details (HGMD ID CM138789)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980062)
known disease mutation at this position, please check HGMD for details (HGMD ID CM127629)
known disease mutation at this position, please check HGMD for details (HGMD ID CM138789)
known disease mutation at this position, please check HGMD for details (HGMD ID CM980062)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.7820.997
5.2230.997
(flanking)-0.2130.227
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased53847wt: 0.40 / mu: 0.47wt: GCAGCCACTGAGCGT
mu: GCAGCCACTGAGCAT		 AGCC|actg
distance from splice site 66
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      81EGTVGVSAATERSRCNTTQGNEVT
mutated  not conserved    81EGTVGVSAATEHSRCNTTQGNEV
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002217  136EGTVGVSAATERSRCNTTQGNEV
Fcatus  all identical  ENSFCAG00000002960  136EGTVGVSAATQRTQCNTTQGNEV
Mmusculus  all identical  ENSMUSG00000028766  136EGTVGVSAATERTRCNTTQGNEV
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000004463  137EGTVGVSAAAVRSQCNTTKGNEV
Drerio  all identical  ENSDARG00000015546  173EGTVGVSAAAVRSQCNTTQGNEV
Dmelanogaster  not conserved  FBgn0043791  171YGTIGVSAAVQFKDCQAQAQAAHHV
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 1410 / 1410
position (AA) of stopcodon in wt / mu AA sequence 470 / 470
position of stopcodon in wt / mu cDNA 1667 / 1667
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 258 / 258
chromosome 1
strand 1
last intron/exon boundary 1402
theoretical NMD boundary in CDS 1094
length of CDS 1410
coding sequence (CDS) position 242
cDNA position
(for ins/del: last normal base / first normal base)		 499
gDNA position
(for ins/del: last normal base / first normal base)		 53855
chromosomal position
(for ins/del: last normal base / first normal base)		 21889712
original gDNA sequence snippet GGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCC
altered gDNA sequence snippet GGTAAGCGCAGCCACTGAGCATTCCCGGTGCAACACCACCC
original cDNA sequence snippet GGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAACACCACCC
altered cDNA sequence snippet GGTAAGCGCAGCCACTGAGCATTCCCGGTGCAACACCACCC
wildtype AA sequence MFLGDGMGVS TVTAARILKG QLHHNPGEET RLEMDKFPFV ALSKTYNTNA QVPDSAGTAT
AYLCGVKANE GTVGVSAATE RSRCNTTQGN EVTSILRWAK DAGKSVGIVT TTRVNHATPS
AAYAHSADRD WYSDNEMPPE ALSQGCKDIA YQLMHNIRDI DVIMGGGRKY MYPKNKTDVE
YESDEKARGT RLDGLDLVDT WKSFKPRYKH SHFIWNRTEL LTLDPHNVDY LLGLFEPGDM
QYELNRNNVT DPSLSEMVVV AIQILRKNPK GFFLLVEGGR IDHGHHEGKA KQALHEAVEM
DRAIGQAGSL TSSEDTLTVV TADHSHVFTF GGYTPRGNSI FGLAPMLSDT DKKPFTAILY
GNGPGYKVVG GERENVSMVD YAHNNYQAQS AVPLRHETHG GEDVAVFSKG PMAHLLHGVH
EQNYVPHVMA YAACIGANLG HCAPASSAGS LAAGPLLLAL ALYPLSVLF*
mutated AA sequence MFLGDGMGVS TVTAARILKG QLHHNPGEET RLEMDKFPFV ALSKTYNTNA QVPDSAGTAT
AYLCGVKANE GTVGVSAATE HSRCNTTQGN EVTSILRWAK DAGKSVGIVT TTRVNHATPS
AAYAHSADRD WYSDNEMPPE ALSQGCKDIA YQLMHNIRDI DVIMGGGRKY MYPKNKTDVE
YESDEKARGT RLDGLDLVDT WKSFKPRYKH SHFIWNRTEL LTLDPHNVDY LLGLFEPGDM
QYELNRNNVT DPSLSEMVVV AIQILRKNPK GFFLLVEGGR IDHGHHEGKA KQALHEAVEM
DRAIGQAGSL TSSEDTLTVV TADHSHVFTF GGYTPRGNSI FGLAPMLSDT DKKPFTAILY
GNGPGYKVVG GERENVSMVD YAHNNYQAQS AVPLRHETHG GEDVAVFSKG PMAHLLHGVH
EQNYVPHVMA YAACIGANLG HCAPASSAGS LAAGPLLLAL ALYPLSVLF*
speed 1.08 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