Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999988799921 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012328)
  • known disease mutation at this position (HGMD CM147611)
  • known disease mutation at this position (HGMD CX044826)
  • known disease mutation: rs8252 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:52314615C>TN/A show variant in all transcripts   IGV
HGNC symbol ACVRL1
Ensembl transcript ID ENST00000419526
Genbank transcript ID N/A
UniProt peptide P37023
alteration type single base exchange
alteration region CDS
DNA changes c.928C>T
cDNA.990C>T
g.13924C>T
AA changes R310W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 310
frameshift no
known variant Reference ID: rs121909288
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8252 (pathogenic for Pulmonary arterial hypertension|Telangiectasia, hereditary hemorrhagic, type 2|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia|not specified) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CX044826)

known disease mutation at this position, please check HGMD for details (HGMD ID CX044826)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012328)

known disease mutation at this position, please check HGMD for details (HGMD ID CX044826)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012328)
known disease mutation at this position, please check HGMD for details (HGMD ID CM147611)

known disease mutation at this position, please check HGMD for details (HGMD ID CX044826)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012328)
known disease mutation at this position, please check HGMD for details (HGMD ID CM147611)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012328)

known disease mutation at this position, please check HGMD for details (HGMD ID CX044826)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012328)
known disease mutation at this position, please check HGMD for details (HGMD ID CM147611)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012328)
known disease mutation at this position, please check HGMD for details (HGMD ID CX044826)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4891
1.7971
(flanking)5.3651
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 increased13914wt: 0.9160 / mu: 0.9243 (marginal change - not scored)wt: CCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAA
mu: CCAAACCCCTCTGCCCGACTCACCGCGCTGTGGATCAAGAA		 actc|ACCG
distance from splice site 73
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      310YPNPSARLTALRIKKTLQKISNSP
mutated  not conserved    310NPSARLTALWIKKTLQKISNS
Ptroglodytes  all identical  ENSPTRG00000004963  484YPNPSARLTALRIKKTLQKISNS
Mmulatta  all identical  ENSMMUG00000004982  491YPNPSARLTALRIKKTLQKISNS
Fcatus  all identical  ENSFCAG00000000265  486YPNPSARLTALRIKKTLQKLSNG
Mmusculus  all identical  ENSMUSG00000000530  483YPNPSARLTALRIKKTLQKLSHN
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000012725  451YQRPGARLTALRVRKTLSKLDHE
Drerio  all identical  ENSDARG00000018179  479FQSPSARLTALRVRKSLSKL
Dmelanogaster  all identical  FBgn0003317  546HQNPDVRLPALRIKKTIHKLASA
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000031897  454FSSPSARLTALRIKKTLNKLRSS
protein features
start (aa)end (aa)featuredetails 
142503TOPO_DOMCytoplasmic (Potential).lost
202492DOMAINProtein kinase.lost
296314HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 990 / 990
position (AA) of stopcodon in wt / mu AA sequence 330 / 330
position of stopcodon in wt / mu cDNA 1052 / 1052
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 63 / 63
chromosome 12
strand 1
last intron/exon boundary 918
theoretical NMD boundary in CDS 805
length of CDS 990
coding sequence (CDS) position 928
cDNA position
(for ins/del: last normal base / first normal base)		 990
gDNA position
(for ins/del: last normal base / first normal base)		 13924
chromosomal position
(for ins/del: last normal base / first normal base)		 52314615
original gDNA sequence snippet CTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAA
altered gDNA sequence snippet CTGCCCGACTCACCGCGCTGTGGATCAAGAAGACACTACAA
original cDNA sequence snippet CTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAA
altered cDNA sequence snippet CTGCCCGACTCACCGCGCTGTGGATCAAGAAGACACTACAA
wildtype AA sequence MALTPPLLLL SAGTMTLGSP RKGLLMLLMA LVTQGKGRYG EVWRGLWHGE SVAVKIFSSR
DEQSWFRETE IYNTVLLRHD NILGFIASDM TSRNSSTQLW LITHYHEHGS LYDFLQRQTL
EPHLALRLAV SAACGLAHLH VEIFGTQGKP AIAHRDFKSR NVLVKSNLQC CIADLGLAVM
HSQGSDYLDI GNNPRVGTKR YMAPEVLDEQ IRTDCFESYK WTDIWAFGLV LWEIARRTIV
NGIVEDYRPP FYDVVPNDPS FEDMKKVVCV DQQTPTIPNR LAADPVLSGL AQMMRECWYP
NPSARLTALR IKKTLQKISN SPEKPKVIQ*
mutated AA sequence MALTPPLLLL SAGTMTLGSP RKGLLMLLMA LVTQGKGRYG EVWRGLWHGE SVAVKIFSSR
DEQSWFRETE IYNTVLLRHD NILGFIASDM TSRNSSTQLW LITHYHEHGS LYDFLQRQTL
EPHLALRLAV SAACGLAHLH VEIFGTQGKP AIAHRDFKSR NVLVKSNLQC CIADLGLAVM
HSQGSDYLDI GNNPRVGTKR YMAPEVLDEQ IRTDCFESYK WTDIWAFGLV LWEIARRTIV
NGIVEDYRPP FYDVVPNDPS FEDMKKVVCV DQQTPTIPNR LAADPVLSGL AQMMRECWYP
NPSARLTALW IKKTLQKISN SPEKPKVIQ*
speed 0.78 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