MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 2 transcript(s)...
Querying Taster for transcript #1: ENST00000374580
Querying Taster for transcript #2: ENST00000374574
MT speed 0 s - this script 3.384854 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
BMPR2	disease_causing	0.999999996966757	simple_aae				G182D	single base exchange	rs137852754		show file
BMPR2	disease_causing	0.999999996966757	simple_aae				G182D	single base exchange	rs137852754		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999996966757 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM024282)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:203379626G>AN/A show variant in all transcripts IGV

HGNC symbol

BMPR2

Ensembl transcript ID

ENST00000374580

Genbank transcript ID

NM_001204

UniProt peptide

Q13873

alteration type

single base exchange

alteration region

CDS

DNA changes

c.545G>A
cDNA.1084G>A
g.137968G>A

AA changes

G182D Score: 94 explain score(s)

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

182

frameshift

known variant

Reference ID: rs137852754

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	17	17

known disease mutation at this position, please check HGMD for details (HGMD ID CM024282)

known disease mutation at this position, please check HGMD for details (HGMD ID CM024282)
known disease mutation at this position, please check HGMD for details (HGMD ID CM024282)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.876	1
	5.876	1
(flanking)	1.12	1

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

182

mutated

not conserved

182

Ptroglodytes

all identical

ENSPTRG00000029076

182

Mmulatta

all identical

ENSMMUG00000009009

184

Fcatus

not conserved

ENSFCAG00000014094

182

Mmusculus

all identical

ENSMUSG00000067336

182

Ggallus

all identical

ENSGALG00000008459

175

Trubripes

no homologue

Drerio

all identical

ENSDARG00000020057

189

Dmelanogaster

not conserved

FBgn0024179

198

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000022074

190

protein features

start (aa)	end (aa)	feature	details
172	1038	TOPO_DOM	Cytoplasmic (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3117 / 3117

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

1039 / 1039

position of stopcodon in wt / mu cDNA

3656 / 3656

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

540 / 540

chromosome

strand

last intron/exon boundary

3406

theoretical NMD boundary in CDS

2816

length of CDS

3117

coding sequence (CDS) position

545

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

1084

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

137968

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

203379626

original gDNA sequence snippet

TATAGGAGACCGTAAACAAGGTCTTCACAGTATGAACATGA

altered gDNA sequence snippet

TATAGGAGACCGTAAACAAGATCTTCACAGTATGAACATGA

original cDNA sequence snippet

GACAGGAGACCGTAAACAAGGTCTTCACAGTATGAACATGA

altered cDNA sequence snippet

GACAGGAGACCGTAAACAAGATCTTCACAGTATGAACATGA

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 MSTAMQNERN LSHNRRVPKI
GPYPDYSSSS YIEDSIHHTD SIVKNISSEH SMSSTPLTIG EKNRNSINYE RQQAQARIPS
PETSVTSLST NTTTTNTTGL TPSTGMTTIS EMPYPDETNL HTTNVAQSIG PTPVCLQLTE
EDLETNKLDP KEVDKNLKES SDENLMEHSL KQFSGPDPLS STSSSLLYPL IKLAVEATGQ
QDFTQTANGQ ACLIPDVLPT QIYPLPKQQN LPKRPTSLPL NTKNSTKEPR LKFGSKHKSN
LKQVETGVAK MNTINAAEPH VVTVTMNGVA GRNHSVNSHA ATTQYANGTV LSGQTTNIVT
HRAQEMLQNQ FIGEDTRLNI NSSPDEHEPL LRREQQAGHD EGVLDRLVDR RERPLEGGRT
NSNNNNSNPC SEQDVLAQGV PSTAADPGPS KPRRAQRPNS LDLSATNVLD GSSIQIGEST
QDGKSGSGEK IKKRVKTPYS LKRWRPSTWV ISTESLDCEV NNNGSNRAVH SKSSTAVYLA
EGGTATTMVS KDIGMNCL*

mutated AA sequence

MTSSLQRPWR VPWLPWTILL VSTAAASQNQ ERLCAFKDPY QQDLGIGESR ISHENGTILC
SKGSTCYGLW EKSKGDINLV KQGCWSHIGD PQECHYEECV VTTTPPSIQN GTYRFCCCST
DLCNVNFTEN FPPPDTTPLS PPHSFNRDET IIIALASVSV LAVLIVALCF GYRMLTGDRK
QDLHSMNMME 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 MSTAMQNERN LSHNRRVPKI
GPYPDYSSSS YIEDSIHHTD SIVKNISSEH SMSSTPLTIG EKNRNSINYE RQQAQARIPS
PETSVTSLST NTTTTNTTGL TPSTGMTTIS EMPYPDETNL HTTNVAQSIG PTPVCLQLTE
EDLETNKLDP KEVDKNLKES SDENLMEHSL KQFSGPDPLS STSSSLLYPL IKLAVEATGQ
QDFTQTANGQ ACLIPDVLPT QIYPLPKQQN LPKRPTSLPL NTKNSTKEPR LKFGSKHKSN
LKQVETGVAK MNTINAAEPH VVTVTMNGVA GRNHSVNSHA ATTQYANGTV LSGQTTNIVT
HRAQEMLQNQ FIGEDTRLNI NSSPDEHEPL LRREQQAGHD EGVLDRLVDR RERPLEGGRT
NSNNNNSNPC SEQDVLAQGV PSTAADPGPS KPRRAQRPNS LDLSATNVLD GSSIQIGEST
QDGKSGSGEK IKKRVKTPYS LKRWRPSTWV ISTESLDCEV NNNGSNRAVH SKSSTAVYLA
EGGTATTMVS KDIGMNCL*

speed

0.72 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
back to results table

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999996966757 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM024282)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:203379626G>AN/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.545G>A
cDNA.586G>A
g.137968G>A

AA changes

G182D Score: 94 explain score(s)

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

182

frameshift

known variant

Reference ID: rs137852754

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	17	17

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.876	1
	5.876	1
(flanking)	1.12	1

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

182

mutated

not conserved

182

Ptroglodytes

all identical

ENSPTRG00000029076

182

Mmulatta

all identical

ENSMMUG00000009009

184

Fcatus

not conserved

ENSFCAG00000014094

182

Mmusculus

all identical

ENSMUSG00000067336

182

Ggallus

all identical

ENSGALG00000008459

175

Trubripes

no homologue

Drerio

all identical

ENSDARG00000020057

189

Dmelanogaster

not conserved

FBgn0024179

198

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000022074

190

protein features

start (aa)	end (aa)	feature	details
172	1038	TOPO_DOM	Cytoplasmic (Potential).	lost

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

545

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

586

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

137968

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

203379626

original gDNA sequence snippet

TATAGGAGACCGTAAACAAGGTCTTCACAGTATGAACATGA

altered gDNA sequence snippet

TATAGGAGACCGTAAACAAGATCTTCACAGTATGAACATGA

original cDNA sequence snippet

GACAGGAGACCGTAAACAAGGTCTTCACAGTATGAACATGA

altered cDNA sequence snippet

GACAGGAGACCGTAAACAAGATCTTCACAGTATGAACATGA

wildtype AA sequence

mutated AA sequence

speed

0.71 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems