Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999787702 (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)
 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 ENST00000440890
Genbank transcript ID N/A
UniProt peptide O00238
alteration type single base exchange
alteration region CDS
DNA changes c.1547G>A
cDNA.1568G>A
g.396654G>A
AA changes R516Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 516
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 74
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      516AHNPASRLTALRVKKTLAKMSESQ
mutated  all conserved    516AHNPASRLTALQVKKTLAKMSES
Ptroglodytes  all identical  ENSPTRG00000016293  515AHNPASRLTALRVKKTLAKMSES
Mmulatta  all identical  ENSMMUG00000006702  486RLTALRVKKTLAKMSES
Fcatus  all identical  ENSFCAG00000015084  486XXXXXSRLTALRVKKTLAKMSES
Mmusculus  all identical  ENSMUSG00000052430  486RLTALRVKKTLAKMSES
Ggallus  all identical  ENSGALG00000012216  519AHNPASRLTALRVKKTLAKMSES
Trubripes  all identical  ENSTRUG00000013761  519AHSPASRLTALRVKKTLAKMLES
Drerio  all identical  ENSDARG00000031219  338AHNPASRLTALRVKKTLAKMSES
Dmelanogaster  all identical  FBgn0003716  554HPNPTVRLTALRVKKTLGRL
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000019220  516AHNPASRLTALRVKKTLAKMSES
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1599 / 1599
position (AA) of stopcodon in wt / mu AA sequence 533 / 533
position of stopcodon in wt / mu cDNA 1620 / 1620
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 22 / 22
chromosome 4
strand 1
last intron/exon boundary 1495
theoretical NMD boundary in CDS 1423
length of CDS 1599
coding sequence (CDS) position 1547
cDNA position
(for ins/del: last normal base / first normal base)		 1568
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 MGWLEELNWQ LHIFLLILLS MHTRANFLDN 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 MGWLEELNWQ LHIFLLILLS MHTRANFLDN 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 0.82 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