mutation t@sting

Prediction

disease causing

Model: simple_aae, prob: 0.999999999290381 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM002239)
known disease mutation: rs8801 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:203417479A>GN/A show variant in all transcripts IGV

HGNC symbol

BMPR2

Ensembl transcript ID

ENST00000374574

Genbank transcript ID

N/A

UniProt peptide

Q13873

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1454A>G
cDNA.1495A>G
g.175821A>G

AA changes

D485G Score: 94 explain score(s)

position(s) of altered AA
if AA alteration in CDS

485

frameshift

known variant

Reference ID: rs137852745
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs8801 (pathogenic for Pulmonary arterial hypertension|Pulmonary Hypertension, Primary, 1) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM002239)

known disease mutation at this position, please check HGMD for details (HGMD ID CM002239)
known disease mutation at this position, please check HGMD for details (HGMD ID CM002239)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	6.096	1
	5.034	1
(flanking)	0.79	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor gained	175820	0.45	mu: GTTGGGGCCAGGATG	TGGG\|gcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

485

mutated

not conserved

485

Ptroglodytes

all identical

ENSPTRG00000029076

485

Mmulatta

all identical

ENSMMUG00000009009

487

Fcatus

no alignment

ENSFCAG00000014094

n/a

Mmusculus

all identical

ENSMUSG00000067336

485

Ggallus

all identical

ENSGALG00000008459

478

Trubripes

no homologue

Drerio

all identical

ENSDARG00000020057

493

Dmelanogaster

all identical

FBgn0024179

510

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000022074

496

protein features

start (aa)	end (aa)	feature	details
172	1038	TOPO_DOM	Cytoplasmic (Potential).	lost
203	504	DOMAIN	Protein kinase.	lost
488	490	HELIX		might get lost (downstream of altered splice site)
494	506	HELIX		might get lost (downstream of altered splice site)
513	513	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
515	515	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
547	550	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
586	586	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
610	618	COMPBIAS	Poly-Thr.	might get lost (downstream of altered splice site)
680	680	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
681	681	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
757	757	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
828	828	CONFLICT	G -> R (in Ref. 1; CAA88759).	might get lost (downstream of altered splice site)
862	862	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
863	863	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
901	908	COMPBIAS	Poly-Asn.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1593 / 1593

position (AA) of stopcodon in wt / mu AA sequence

531 / 531

position of stopcodon in wt / mu cDNA

1634 / 1634

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

42 / 42

chromosome

strand

last intron/exon boundary

1628

theoretical NMD boundary in CDS

1536

length of CDS

1593

coding sequence (CDS) position

1454

cDNA position
(for ins/del: last normal base / first normal base)

1495

gDNA position
(for ins/del: last normal base / first normal base)

175821

chromosomal position
(for ins/del: last normal base / first normal base)

203417479

original gDNA sequence snippet

GACAATCGAAGACTGTTGGGACCAGGATGCAGAGGCTCGGC

altered gDNA sequence snippet

GACAATCGAAGACTGTTGGGGCCAGGATGCAGAGGCTCGGC

original cDNA sequence snippet

GACAATCGAAGACTGTTGGGACCAGGATGCAGAGGCTCGGC

altered cDNA sequence snippet

GACAATCGAAGACTGTTGGGGCCAGGATGCAGAGGCTCGGC

wildtype AA sequence

MTSSLQRPWR VPWLPWTILL VSTAAASQNQ ERLCAFKDPY QQDLGIGESR ISHENGTILC
SKGSTCYGLW EKSKGDINLV KQGCWSHIGD PQECHYEECV VTTTPPSIQN GTYRFCCCST
DLCNVNFTEN FPPPDTTPLS PPHSFNRDET IIIALASVSV LAVLIVALCF GYRMLTGDRK
QGLHSMNMME AAASEPSLDL DNLKLLELIG RGRYGAVYKG SLDERPVAVK VFSFANRQNF
INEKNIYRVP LMEHDNIARF IVGDERVTAD GRMEYLLVME YYPNGSLCKY LSLHTSDWVS
SCRLAHSVTR GLAYLHTELP RGDHYKPAIS HRDLNSRNVL VKNDGTCVIS DFGLSMRLTG
NRLVRPGEED NAAISEVGTI RYMAPEVLEG AVNLRDCESA LKQVDMYALG LIYWEIFMRC
TDLFPGESVP EYQMAFQTEV GNHPTFEDMQ VLVSREKQRP KFPEAWKENS LAVRSLKETI
EDCWDQDAEA RLTAQCAEER MAELMMIWER NKSVSPTVNP MSTAMQNERR *

mutated AA sequence

MTSSLQRPWR VPWLPWTILL VSTAAASQNQ ERLCAFKDPY QQDLGIGESR ISHENGTILC
SKGSTCYGLW EKSKGDINLV KQGCWSHIGD PQECHYEECV VTTTPPSIQN GTYRFCCCST
DLCNVNFTEN FPPPDTTPLS PPHSFNRDET IIIALASVSV LAVLIVALCF GYRMLTGDRK
QGLHSMNMME AAASEPSLDL DNLKLLELIG RGRYGAVYKG SLDERPVAVK VFSFANRQNF
INEKNIYRVP LMEHDNIARF IVGDERVTAD GRMEYLLVME YYPNGSLCKY LSLHTSDWVS
SCRLAHSVTR GLAYLHTELP RGDHYKPAIS HRDLNSRNVL VKNDGTCVIS DFGLSMRLTG
NRLVRPGEED NAAISEVGTI RYMAPEVLEG AVNLRDCESA LKQVDMYALG LIYWEIFMRC
TDLFPGESVP EYQMAFQTEV GNHPTFEDMQ VLVSREKQRP KFPEAWKENS LAVRSLKETI
EDCWGQDAEA RLTAQCAEER MAELMMIWER NKSVSPTVNP MSTAMQNERR *

speed

1.09 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