Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999995432068372 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM067338)
  • known disease mutation: rs13684 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:21896819C>TN/A show variant in all transcripts   IGV
HGNC symbol ALPL
Ensembl transcript ID ENST00000539907
Genbank transcript ID NM_001177520
UniProt peptide P05186
alteration type single base exchange
alteration region CDS
DNA changes c.583C>T
cDNA.790C>T
g.60962C>T
AA changes R195C Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 195
frameshift no
known variant Reference ID: rs121918020
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC022

known disease mutation: rs13684 (pathogenic for Infantile hypophosphatasia|Childhood hypophosphatasia|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM067338)

known disease mutation at this position, please check HGMD for details (HGMD ID CM067338)
known disease mutation at this position, please check HGMD for details (HGMD ID CM067338)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5171
3.0551
(flanking)3.0331
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 increased60952wt: 0.2756 / mu: 0.3056 (marginal change - not scored)wt: TCCTCCTAGCACTCCCACTTCATCTGGAACCGCACGGAACT
mu: TCCTCCTAGCACTCCCACTTCATCTGGAACTGCACGGAACT		 cttc|ATCT
Acc increased60966wt: 0.24 / mu: 0.39wt: CCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACC
mu: CCACTTCATCTGGAACTGCACGGAACTCCTGACCCTTGACC		 gcac|GGAA
Donor marginally increased60965wt: 0.9333 / mu: 0.9545 (marginal change - not scored)wt: ACCGCACGGAACTCC
mu: ACTGCACGGAACTCC		 CGCA|cgga
Donor gained609660.39mu: CTGCACGGAACTCCT GCAC|ggaa
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      195PRYKHSHFIWNRTELLTLDPHNVD
mutated  not conserved    195PRYKHSHFIWNCTELLTLDPHNV
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002217  272PRHKHSHFIWNRTELLTLD
Fcatus  all identical  ENSFCAG00000002960  272PRHKHSHYVWNRTELLTLD
Mmusculus  all identical  ENSMUSG00000028766  272PRHKHSHYVWNRTELLALD
Ggallus  no homologue    
Trubripes  all conserved  ENSTRUG00000004463  273MENKNGHYVWNKKQLLSLNPNNV
Drerio  all conserved  ENSDARG00000015546  309VKEKRGFYVWNKKDLLSLN
Dmelanogaster  all identical  FBgn0043791  312QHTNSAQYVENRRE
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
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 1344 / 1344
position (AA) of stopcodon in wt / mu AA sequence 448 / 448
position of stopcodon in wt / mu cDNA 1551 / 1551
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 208 / 208
chromosome 1
strand 1
last intron/exon boundary 1286
theoretical NMD boundary in CDS 1028
length of CDS 1344
coding sequence (CDS) position 583
cDNA position
(for ins/del: last normal base / first normal base)		 790
gDNA position
(for ins/del: last normal base / first normal base)		 60962
chromosomal position
(for ins/del: last normal base / first normal base)		 21896819
original gDNA sequence snippet ACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTT
altered gDNA sequence snippet ACTCCCACTTCATCTGGAACTGCACGGAACTCCTGACCCTT
original cDNA sequence snippet ACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTT
altered cDNA sequence snippet ACTCCCACTTCATCTGGAACTGCACGGAACTCCTGACCCTT
wildtype AA sequence MPWSFRSSTP TWLRMSSCSW EMTYNTNAQV PDSAGTATAY LCGVKANEGT VGVSAATERS
RCNTTQGNEV TSILRWAKDA GKSVGIVTTT RVNHATPSAA YAHSADRDWY SDNEMPPEAL
SQGCKDIAYQ LMHNIRDIDV IMGGGRKYMY PKNKTDVEYE SDEKARGTRL DGLDLVDTWK
SFKPRYKHSH FIWNRTELLT LDPHNVDYLL GLFEPGDMQY ELNRNNVTDP SLSEMVVVAI
QILRKNPKGF FLLVEGGRID HGHHEGKAKQ ALHEAVEMDR AIGQAGSLTS SEDTLTVVTA
DHSHVFTFGG YTPRGNSIFG LAPMLSDTDK KPFTAILYGN GPGYKVVGGE RENVSMVDYA
HNNYQAQSAV PLRHETHGGE DVAVFSKGPM AHLLHGVHEQ NYVPHVMAYA ACIGANLGHC
APASSAGSLA AGPLLLALAL YPLSVLF*
mutated AA sequence MPWSFRSSTP TWLRMSSCSW EMTYNTNAQV PDSAGTATAY LCGVKANEGT VGVSAATERS
RCNTTQGNEV TSILRWAKDA GKSVGIVTTT RVNHATPSAA YAHSADRDWY SDNEMPPEAL
SQGCKDIAYQ LMHNIRDIDV IMGGGRKYMY PKNKTDVEYE SDEKARGTRL DGLDLVDTWK
SFKPRYKHSH FIWNCTELLT LDPHNVDYLL GLFEPGDMQY ELNRNNVTDP SLSEMVVVAI
QILRKNPKGF FLLVEGGRID HGHHEGKAKQ ALHEAVEMDR AIGQAGSLTS SEDTLTVVTA
DHSHVFTFGG YTPRGNSIFG LAPMLSDTDK KPFTAILYGN GPGYKVVGGE RENVSMVDYA
HNNYQAQSAV PLRHETHGGE DVAVFSKGPM AHLLHGVHEQ NYVPHVMAYA ACIGANLGHC
APASSAGSLA AGPLLLALAL YPLSVLF*
speed 0.44 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