Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999983513 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM065988)
  • known disease mutation at this position (HGMD CM153613)
  • known disease mutation: rs6558 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:96075772G>AN/A show variant in all transcripts   IGV
HGNC symbol BMPR1B
Ensembl transcript ID ENST00000512312
Genbank transcript ID N/A
UniProt peptide O00238
alteration type single base exchange
alteration region CDS
DNA changes c.1457G>A
cDNA.1627G>A
g.396654G>A
AA changes R486Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 486
frameshift no
known variant Reference ID: rs121434419
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs6558 (pathogenic for Brachydactyly type A2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM153613)

known disease mutation at this position, please check HGMD for details (HGMD ID CM153613)
known disease mutation at this position, please check HGMD for details (HGMD ID CM065988)

known disease mutation at this position, please check HGMD for details (HGMD ID CM153613)
known disease mutation at this position, please check HGMD for details (HGMD ID CM065988)
known disease mutation at this position, please check HGMD for details (HGMD ID CM065988)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.6210.998
6.3050.999
(flanking)-3.1680.003
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 increased396655wt: 0.9949 / mu: 0.9962 (marginal change - not scored)wt: CTGCGGGTTAAGAAA
mu: CTGCAGGTTAAGAAA		 GCGG|gtta
distance from splice site 53
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      486AHNPASRLTALRVKKTLAKMSESQ
mutated  all conserved    486RLTALQVKKTLAKMSES
Ptroglodytes  all identical  ENSPTRG00000016293  515RLTALRVKKTLAKMSES
Mmulatta  all identical  ENSMMUG00000006702  486RLTALRVKKTLAKMSES
Fcatus  all identical  ENSFCAG00000015084  486XXXXXSRLTALRVKKTLAKMSES
Mmusculus  all identical  ENSMUSG00000052430  486RLTALRVKKTLAKMSES
Ggallus  all identical  ENSGALG00000012216  519RLTALRVKKTLAKMSES
Trubripes  all identical  ENSTRUG00000013761  519PASRLTALRVKKTLAKMLES
Drerio  all identical  ENSDARG00000031219  338AHNPASRLTALRVKKTLAKMSES
Dmelanogaster  all identical  FBgn0003716  554HPNPTVRLTALRVKKTLGRL
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000019220  516RLTALRVKKTLAKMSES
protein features
start (aa)end (aa)featuredetails 
149502TOPO_DOMCytoplasmic (Potential).lost
204494DOMAINProtein kinase.lost
484496HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1509 / 1509
position (AA) of stopcodon in wt / mu AA sequence 503 / 503
position of stopcodon in wt / mu cDNA 1679 / 1679
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 171 / 171
chromosome 4
strand 1
last intron/exon boundary 1554
theoretical NMD boundary in CDS 1333
length of CDS 1509
coding sequence (CDS) position 1457
cDNA position
(for ins/del: last normal base / first normal base)		 1627
gDNA position
(for ins/del: last normal base / first normal base)		 396654
chromosomal position
(for ins/del: last normal base / first normal base)		 96075772
original gDNA sequence snippet ATCAAGGCTGACAGCCCTGCGGGTTAAGAAAACACTTGCCA
altered gDNA sequence snippet ATCAAGGCTGACAGCCCTGCAGGTTAAGAAAACACTTGCCA
original cDNA sequence snippet ATCAAGGCTGACAGCCCTGCGGGTTAAGAAAACACTTGCCA
altered cDNA sequence snippet ATCAAGGCTGACAGCCCTGCAGGTTAAGAAAACACTTGCCA
wildtype AA sequence MLLRSAGKLN VGTKKEDGES TAPTPRPKVL RCKCHHHCPE DSVNNICSTD GYCFTMIEED
DSGLPVVTSG CLGLEGSDFQ CRDTPIPHQR RSIECCTERN ECNKDLHPTL PPLKNRDFVD
GPIHHRALLI SVTVCSLLLV LIILFCYFRY KRQETRPRYS IGLEQDETYI PPGESLRDLI
EQSQSSGSGS GLPLLVQRTI AKQIQMVKQI GKGRYGEVWM GKWRGEKVAV KVFFTTEEAS
WFRETEIYQT VLMRHENILG FIAADIKGTG SWTQLYLITD YHENGSLYDY LKSTTLDAKS
MLKLAYSSVS GLCHLHTEIF STQGKPAIAH RDLKSKNILV KKNGTCCIAD LGLAVKFISD
TNEVDIPPNT RVGTKRYMPP EVLDESLNRN HFQSYIMADM YSFGLILWEV ARRCVSGGIV
EEYQLPYHDL VPSDPSYEDM REIVCIKKLR PSFPNRWSSD ECLRQMGKLM TECWAHNPAS
RLTALRVKKT LAKMSESQDI KL*
mutated AA sequence MLLRSAGKLN VGTKKEDGES TAPTPRPKVL RCKCHHHCPE DSVNNICSTD GYCFTMIEED
DSGLPVVTSG CLGLEGSDFQ CRDTPIPHQR RSIECCTERN ECNKDLHPTL PPLKNRDFVD
GPIHHRALLI SVTVCSLLLV LIILFCYFRY KRQETRPRYS IGLEQDETYI PPGESLRDLI
EQSQSSGSGS GLPLLVQRTI AKQIQMVKQI GKGRYGEVWM GKWRGEKVAV KVFFTTEEAS
WFRETEIYQT VLMRHENILG FIAADIKGTG SWTQLYLITD YHENGSLYDY LKSTTLDAKS
MLKLAYSSVS GLCHLHTEIF STQGKPAIAH RDLKSKNILV KKNGTCCIAD LGLAVKFISD
TNEVDIPPNT RVGTKRYMPP EVLDESLNRN HFQSYIMADM YSFGLILWEV ARRCVSGGIV
EEYQLPYHDL VPSDPSYEDM REIVCIKKLR PSFPNRWSSD ECLRQMGKLM TECWAHNPAS
RLTALQVKKT LAKMSESQDI KL*
speed 0.92 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