MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 4 transcript(s)...
Querying Taster for transcript #1: ENST00000263640
Querying Taster for transcript #2: ENST00000409283
Querying Taster for transcript #3: ENST00000410057
Querying Taster for transcript #4: ENST00000434821
MT speed 0 s - this script 6.321831 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ACVR1	disease_causing_automatic	0.999999999999855	simple_aae		affected	0	G356D	single base exchange	rs121912679		show file
ACVR1	disease_causing_automatic	0.999999999999855	simple_aae		affected	0	G356D	single base exchange	rs121912679		show file
ACVR1	disease_causing_automatic	0.999999999999855	simple_aae		affected	0	G356D	single base exchange	rs121912679		show file
ACVR1	disease_causing_automatic	0.999999999999855	simple_aae		affected	0	G356D	single base exchange	rs121912679		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999999855 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM080031)
known disease mutation: rs18310 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:158617589C>TN/A show variant in all transcripts IGV

HGNC symbol

ACVR1

Ensembl transcript ID

ENST00000263640

Genbank transcript ID

NM_001105

UniProt peptide

Q04771

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1067G>A
cDNA.1497G>A
g.114786G>A

AA changes

G356D Score: 94 explain score(s)

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

356

frameshift

known variant

Reference ID: rs121912679
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs18310 (pathogenic for Progressive myositis ossificans) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM080031)

known disease mutation at this position, please check HGMD for details (HGMD ID CM080031)
known disease mutation at this position, please check HGMD for details (HGMD ID CM080031)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
CTCF, Transcription Factor, CCCTC-binding factor

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.393	1
	6.271	1
(flanking)	6.271	1

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

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Acceptor lost	114785.5	sequence motif lost	-	wt: ttca\|GGCC mu: ttca.GACC
Acc marginally increased	114784	wt: 0.9973 / mu: 0.9975 (marginal change - not scored)	wt: ATTGTTATCTTCTTCCTTTCAGGCCTGGCAGTCATGCATTC mu: ATTGTTATCTTCTTCCTTTCAGACCTGGCAGTCATGCATTC	ttca\|GGCC
Acc marginally increased	114789	wt: 0.7474 / mu: 0.8056 (marginal change - not scored)	wt: TATCTTCTTCCTTTCAGGCCTGGCAGTCATGCATTCCCAGA mu: TATCTTCTTCCTTTCAGACCTGGCAGTCATGCATTCCCAGA	gcct\|GGCA
Acc marginally increased	114786	wt: 0.7581 / mu: 0.8121 (marginal change - not scored)	wt: TGTTATCTTCTTCCTTTCAGGCCTGGCAGTCATGCATTCCC mu: TGTTATCTTCTTCCTTTCAGACCTGGCAGTCATGCATTCCC	cagg\|CCTG
Acc increased	114777	wt: 0.52 / mu: 0.60	wt: TGATTACATTGTTATCTTCTTCCTTTCAGGCCTGGCAGTCA mu: TGATTACATTGTTATCTTCTTCCTTTCAGACCTGGCAGTCA	tctt\|CCTT
Acc marginally increased	114790	wt: 0.5364 / mu: 0.5479 (marginal change - not scored)	wt: ATCTTCTTCCTTTCAGGCCTGGCAGTCATGCATTCCCAGAG mu: ATCTTCTTCCTTTCAGACCTGGCAGTCATGCATTCCCAGAG	cctg\|GCAG
Acc marginally increased	114780	wt: 0.9801 / mu: 0.9823 (marginal change - not scored)	wt: TTACATTGTTATCTTCTTCCTTTCAGGCCTGGCAGTCATGC mu: TTACATTGTTATCTTCTTCCTTTCAGACCTGGCAGTCATGC	tcct\|TTCA
Acc marginally increased	114781	wt: 0.9740 / mu: 0.9749 (marginal change - not scored)	wt: TACATTGTTATCTTCTTCCTTTCAGGCCTGGCAGTCATGCA mu: TACATTGTTATCTTCTTCCTTTCAGACCTGGCAGTCATGCA	cctt\|TCAG
Acc marginally increased	114783	wt: 0.9928 / mu: 0.9928 (marginal change - not scored)	wt: CATTGTTATCTTCTTCCTTTCAGGCCTGGCAGTCATGCATT mu: CATTGTTATCTTCTTCCTTTCAGACCTGGCAGTCATGCATT	tttc\|AGGC
Donor increased	114784	wt: 0.37 / mu: 0.49	wt: CTTTCAGGCCTGGCA mu: CTTTCAGACCTGGCA	TTCA\|ggcc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

356

mutated

not conserved

356

Ptroglodytes

all identical

ENSPTRG00000012555

356

Mmulatta

all identical

ENSMMUG00000018497

356

Fcatus

all identical

ENSFCAG00000008054

356

Mmusculus

all identical

ENSMUSG00000026836

356

Ggallus

all identical

ENSGALG00000012551

175

Trubripes

all identical

ENSTRUG00000007007

360

Drerio

all identical

ENSDARG00000014986

353

Dmelanogaster

all identical

FBgn0003317

412

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000010380

359

protein features

start (aa)	end (aa)	feature	details
147	509	TOPO_DOM	Cytoplasmic (Potential).	lost
208	502	DOMAIN	Protein kinase.	lost
359	362	STRAND		might get lost (downstream of altered splice site)
363	366	TURN		might get lost (downstream of altered splice site)
367	369	STRAND		might get lost (downstream of altered splice site)
379	381	HELIX		might get lost (downstream of altered splice site)
384	387	HELIX		might get lost (downstream of altered splice site)
396	415	HELIX		might get lost (downstream of altered splice site)
430	434	TURN		might get lost (downstream of altered splice site)
441	448	HELIX		might get lost (downstream of altered splice site)
459	463	HELIX		might get lost (downstream of altered splice site)
465	477	HELIX		might get lost (downstream of altered splice site)
482	484	HELIX		might get lost (downstream of altered splice site)
488	498	HELIX		might get lost (downstream of altered splice site)
501	501	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1530 / 1530

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

510 / 510

position of stopcodon in wt / mu cDNA

1960 / 1960

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

431 / 431

chromosome

strand

-1

last intron/exon boundary

1826

theoretical NMD boundary in CDS

1345

length of CDS

1530

coding sequence (CDS) position

1067

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

1497

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

114786

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

158617589

original gDNA sequence snippet

TGTTATCTTCTTCCTTTCAGGCCTGGCAGTCATGCATTCCC

altered gDNA sequence snippet

TGTTATCTTCTTCCTTTCAGACCTGGCAGTCATGCATTCCC

original cDNA sequence snippet

GTGTTGCATAGCAGATTTGGGCCTGGCAGTCATGCATTCCC

altered cDNA sequence snippet

GTGTTGCATAGCAGATTTGGACCTGGCAGTCATGCATTCCC

wildtype AA sequence

MVDGVMILPV LIMIALPSPS MEDEKPKVNP KLYMCVCEGL SCGNEDHCEG QQCFSSLSIN
DGFHVYQKGC FQVYEQGKMT CKTPPSPGQA VECCQGDWCN RNITAQLPTK GKSFPGTQNF
HLEVGLIILS VVFAVCLLAC LLGVALRKFK RRNQERLNPR DVEYGTIEGL ITTNVGDSTL
ADLLDHSCTS GSGSGLPFLV QRTVARQITL LECVGKGRYG EVWRGSWQGE NVAVKIFSSR
DEKSWFRETE LYNTVMLRHE NILGFIASDM TSRHSSTQLW LITHYHEMGS LYDYLQLTTL
DTVSCLRIVL SIASGLAHLH IEIFGTQGKP AIAHRDLKSK NILVKKNGQC CIADLGLAVM
HSQSTNQLDV GNNPRVGTKR YMAPEVLDET IQVDCFDSYK RVDIWAFGLV LWEVARRMVS
NGIVEDYKPP FYDVVPNDPS FEDMRKVVCV DQQRPNIPNR WFSDPTLTSL AKLMKECWYQ
NPSARLTALR IKKTLTKIDN SLDKLKTDC*

mutated AA sequence

MVDGVMILPV LIMIALPSPS MEDEKPKVNP KLYMCVCEGL SCGNEDHCEG QQCFSSLSIN
DGFHVYQKGC FQVYEQGKMT CKTPPSPGQA VECCQGDWCN RNITAQLPTK GKSFPGTQNF
HLEVGLIILS VVFAVCLLAC LLGVALRKFK RRNQERLNPR DVEYGTIEGL ITTNVGDSTL
ADLLDHSCTS GSGSGLPFLV QRTVARQITL LECVGKGRYG EVWRGSWQGE NVAVKIFSSR
DEKSWFRETE LYNTVMLRHE NILGFIASDM TSRHSSTQLW LITHYHEMGS LYDYLQLTTL
DTVSCLRIVL SIASGLAHLH IEIFGTQGKP AIAHRDLKSK NILVKKNGQC CIADLDLAVM
HSQSTNQLDV GNNPRVGTKR YMAPEVLDET IQVDCFDSYK RVDIWAFGLV LWEVARRMVS
NGIVEDYKPP FYDVVPNDPS FEDMRKVVCV DQQRPNIPNR WFSDPTLTSL AKLMKECWYQ
NPSARLTALR IKKTLTKIDN SLDKLKTDC*

speed

1.35 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: 0.999999999999855 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM080031)
known disease mutation: rs18310 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:158617589C>TN/A show variant in all transcripts IGV

HGNC symbol

ACVR1

Ensembl transcript ID

ENST00000409283

Genbank transcript ID

N/A

UniProt peptide

Q04771

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1067G>A
cDNA.1334G>A
g.114786G>A

AA changes

G356D Score: 94 explain score(s)

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

356

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
CTCF, Transcription Factor, CCCTC-binding factor

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.393	1
	6.271	1
(flanking)	6.271	1

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

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Acceptor lost	114785.5	sequence motif lost	-	wt: ttca\|GGCC mu: ttca.GACC
Acc marginally increased	114784	wt: 0.9973 / mu: 0.9975 (marginal change - not scored)	wt: ATTGTTATCTTCTTCCTTTCAGGCCTGGCAGTCATGCATTC mu: ATTGTTATCTTCTTCCTTTCAGACCTGGCAGTCATGCATTC	ttca\|GGCC
Acc marginally increased	114789	wt: 0.7474 / mu: 0.8056 (marginal change - not scored)	wt: TATCTTCTTCCTTTCAGGCCTGGCAGTCATGCATTCCCAGA mu: TATCTTCTTCCTTTCAGACCTGGCAGTCATGCATTCCCAGA	gcct\|GGCA
Acc marginally increased	114786	wt: 0.7581 / mu: 0.8121 (marginal change - not scored)	wt: TGTTATCTTCTTCCTTTCAGGCCTGGCAGTCATGCATTCCC mu: TGTTATCTTCTTCCTTTCAGACCTGGCAGTCATGCATTCCC	cagg\|CCTG
Acc increased	114777	wt: 0.52 / mu: 0.60	wt: TGATTACATTGTTATCTTCTTCCTTTCAGGCCTGGCAGTCA mu: TGATTACATTGTTATCTTCTTCCTTTCAGACCTGGCAGTCA	tctt\|CCTT
Acc marginally increased	114790	wt: 0.5364 / mu: 0.5479 (marginal change - not scored)	wt: ATCTTCTTCCTTTCAGGCCTGGCAGTCATGCATTCCCAGAG mu: ATCTTCTTCCTTTCAGACCTGGCAGTCATGCATTCCCAGAG	cctg\|GCAG
Acc marginally increased	114780	wt: 0.9801 / mu: 0.9823 (marginal change - not scored)	wt: TTACATTGTTATCTTCTTCCTTTCAGGCCTGGCAGTCATGC mu: TTACATTGTTATCTTCTTCCTTTCAGACCTGGCAGTCATGC	tcct\|TTCA
Acc marginally increased	114781	wt: 0.9740 / mu: 0.9749 (marginal change - not scored)	wt: TACATTGTTATCTTCTTCCTTTCAGGCCTGGCAGTCATGCA mu: TACATTGTTATCTTCTTCCTTTCAGACCTGGCAGTCATGCA	cctt\|TCAG
Acc marginally increased	114783	wt: 0.9928 / mu: 0.9928 (marginal change - not scored)	wt: CATTGTTATCTTCTTCCTTTCAGGCCTGGCAGTCATGCATT mu: CATTGTTATCTTCTTCCTTTCAGACCTGGCAGTCATGCATT	tttc\|AGGC
Donor increased	114784	wt: 0.37 / mu: 0.49	wt: CTTTCAGGCCTGGCA mu: CTTTCAGACCTGGCA	TTCA\|ggcc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

356

mutated

not conserved

356

Ptroglodytes

all identical

ENSPTRG00000012555

356

Mmulatta

all identical

ENSMMUG00000018497

356

Fcatus

all identical

ENSFCAG00000008054

356

Mmusculus

all identical

ENSMUSG00000026836

356

Ggallus

all identical

ENSGALG00000012551

175

Trubripes

all identical

ENSTRUG00000007007

360

Drerio

all identical

ENSDARG00000014986

353

Dmelanogaster

all identical

FBgn0003317

412

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000010380

359

protein features

start (aa)	end (aa)	feature	details
147	509	TOPO_DOM	Cytoplasmic (Potential).	lost
208	502	DOMAIN	Protein kinase.	lost
359	362	STRAND		might get lost (downstream of altered splice site)
363	366	TURN		might get lost (downstream of altered splice site)
367	369	STRAND		might get lost (downstream of altered splice site)
379	381	HELIX		might get lost (downstream of altered splice site)
384	387	HELIX		might get lost (downstream of altered splice site)
396	415	HELIX		might get lost (downstream of altered splice site)
430	434	TURN		might get lost (downstream of altered splice site)
441	448	HELIX		might get lost (downstream of altered splice site)
459	463	HELIX		might get lost (downstream of altered splice site)
465	477	HELIX		might get lost (downstream of altered splice site)
482	484	HELIX		might get lost (downstream of altered splice site)
488	498	HELIX		might get lost (downstream of altered splice site)
501	501	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1530 / 1530

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

510 / 510

position of stopcodon in wt / mu cDNA

1797 / 1797

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

268 / 268

chromosome

strand

-1

last intron/exon boundary

1663

theoretical NMD boundary in CDS

1345

length of CDS

1530

coding sequence (CDS) position

1067

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

1334

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

114786

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

158617589

original gDNA sequence snippet

TGTTATCTTCTTCCTTTCAGGCCTGGCAGTCATGCATTCCC

altered gDNA sequence snippet

TGTTATCTTCTTCCTTTCAGACCTGGCAGTCATGCATTCCC

original cDNA sequence snippet

GTGTTGCATAGCAGATTTGGGCCTGGCAGTCATGCATTCCC

altered cDNA sequence snippet

GTGTTGCATAGCAGATTTGGACCTGGCAGTCATGCATTCCC

wildtype AA sequence

mutated AA sequence

MVDGVMILPV LIMIALPSPS MEDEKPKVNP KLYMCVCEGL SCGNEDHCEG QQCFSSLSIN
DGFHVYQKGC FQVYEQGKMT CKTPPSPGQA VECCQGDWCN RNITAQLPTK GKSFPGTQNF
HLEVGLIILS VVFAVCLLAC LLGVALRKFK RRNQERLNPR DVEYGTIEGL ITTNVGDSTL
ADLLDHSCTS GSGSGLPFLV QRTVARQITL LECVGKGRYG EVWRGSWQGE NVAVKIFSSR
DEKSWFRETE LYNTVMLRHE NILGFIASDM TSRHSSTQLW LITHYHEMGS LYDYLQLTTL
DTVSCLRIVL SIASGLAHLH IEIFGTQGKP AIAHRDLKSK NILVKKNGQC CIADLDLAVM
HSQSTNQLDV GNNPRVGTKR YMAPEVLDET IQVDCFDSYK RVDIWAFGLV LWEVARRMVS
NGIVEDYKPP FYDVVPNDPS FEDMRKVVCV DQQRPNIPNR WFSDPTLTSL AKLMKECWYQ
NPSARLTALR IKKTLTKIDN SLDKLKTDC*

speed

1.47 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999999855 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM080031)
known disease mutation: rs18310 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:158617589C>TN/A show variant in all transcripts IGV

HGNC symbol

ACVR1

Ensembl transcript ID

ENST00000410057

Genbank transcript ID

N/A

UniProt peptide

Q04771

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1067G>A
cDNA.1406G>A
g.114786G>A

AA changes

G356D Score: 94 explain score(s)

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

356

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
CTCF, Transcription Factor, CCCTC-binding factor

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.393	1
	6.271	1
(flanking)	6.271	1

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

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Acceptor lost	114785.5	sequence motif lost	-	wt: ttca\|GGCC mu: ttca.GACC
Acc marginally increased	114784	wt: 0.9973 / mu: 0.9975 (marginal change - not scored)	wt: ATTGTTATCTTCTTCCTTTCAGGCCTGGCAGTCATGCATTC mu: ATTGTTATCTTCTTCCTTTCAGACCTGGCAGTCATGCATTC	ttca\|GGCC
Acc marginally increased	114789	wt: 0.7474 / mu: 0.8056 (marginal change - not scored)	wt: TATCTTCTTCCTTTCAGGCCTGGCAGTCATGCATTCCCAGA mu: TATCTTCTTCCTTTCAGACCTGGCAGTCATGCATTCCCAGA	gcct\|GGCA
Acc marginally increased	114786	wt: 0.7581 / mu: 0.8121 (marginal change - not scored)	wt: TGTTATCTTCTTCCTTTCAGGCCTGGCAGTCATGCATTCCC mu: TGTTATCTTCTTCCTTTCAGACCTGGCAGTCATGCATTCCC	cagg\|CCTG
Acc increased	114777	wt: 0.52 / mu: 0.60	wt: TGATTACATTGTTATCTTCTTCCTTTCAGGCCTGGCAGTCA mu: TGATTACATTGTTATCTTCTTCCTTTCAGACCTGGCAGTCA	tctt\|CCTT
Acc marginally increased	114790	wt: 0.5364 / mu: 0.5479 (marginal change - not scored)	wt: ATCTTCTTCCTTTCAGGCCTGGCAGTCATGCATTCCCAGAG mu: ATCTTCTTCCTTTCAGACCTGGCAGTCATGCATTCCCAGAG	cctg\|GCAG
Acc marginally increased	114780	wt: 0.9801 / mu: 0.9823 (marginal change - not scored)	wt: TTACATTGTTATCTTCTTCCTTTCAGGCCTGGCAGTCATGC mu: TTACATTGTTATCTTCTTCCTTTCAGACCTGGCAGTCATGC	tcct\|TTCA
Acc marginally increased	114781	wt: 0.9740 / mu: 0.9749 (marginal change - not scored)	wt: TACATTGTTATCTTCTTCCTTTCAGGCCTGGCAGTCATGCA mu: TACATTGTTATCTTCTTCCTTTCAGACCTGGCAGTCATGCA	cctt\|TCAG
Acc marginally increased	114783	wt: 0.9928 / mu: 0.9928 (marginal change - not scored)	wt: CATTGTTATCTTCTTCCTTTCAGGCCTGGCAGTCATGCATT mu: CATTGTTATCTTCTTCCTTTCAGACCTGGCAGTCATGCATT	tttc\|AGGC
Donor increased	114784	wt: 0.37 / mu: 0.49	wt: CTTTCAGGCCTGGCA mu: CTTTCAGACCTGGCA	TTCA\|ggcc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

356

mutated

not conserved

356

Ptroglodytes

all identical

ENSPTRG00000012555

356

Mmulatta

all identical

ENSMMUG00000018497

356

Fcatus

all identical

ENSFCAG00000008054

356

Mmusculus

all identical

ENSMUSG00000026836

356

Ggallus

all identical

ENSGALG00000012551

175

Trubripes

all identical

ENSTRUG00000007007

360

Drerio

all identical

ENSDARG00000014986

353

Dmelanogaster

all identical

FBgn0003317

412

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000010380

359

protein features

start (aa)	end (aa)	feature	details
147	509	TOPO_DOM	Cytoplasmic (Potential).	lost
208	502	DOMAIN	Protein kinase.	lost
359	362	STRAND		might get lost (downstream of altered splice site)
363	366	TURN		might get lost (downstream of altered splice site)
367	369	STRAND		might get lost (downstream of altered splice site)
379	381	HELIX		might get lost (downstream of altered splice site)
384	387	HELIX		might get lost (downstream of altered splice site)
396	415	HELIX		might get lost (downstream of altered splice site)
430	434	TURN		might get lost (downstream of altered splice site)
441	448	HELIX		might get lost (downstream of altered splice site)
459	463	HELIX		might get lost (downstream of altered splice site)
465	477	HELIX		might get lost (downstream of altered splice site)
482	484	HELIX		might get lost (downstream of altered splice site)
488	498	HELIX		might get lost (downstream of altered splice site)
501	501	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1530 / 1530

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

510 / 510

position of stopcodon in wt / mu cDNA

1869 / 1869

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

340 / 340

chromosome

strand

-1

last intron/exon boundary

1735

theoretical NMD boundary in CDS

1345

length of CDS

1530

coding sequence (CDS) position

1067

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

1406

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

114786

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

158617589

original gDNA sequence snippet

TGTTATCTTCTTCCTTTCAGGCCTGGCAGTCATGCATTCCC

altered gDNA sequence snippet

TGTTATCTTCTTCCTTTCAGACCTGGCAGTCATGCATTCCC

original cDNA sequence snippet

GTGTTGCATAGCAGATTTGGGCCTGGCAGTCATGCATTCCC

altered cDNA sequence snippet

GTGTTGCATAGCAGATTTGGACCTGGCAGTCATGCATTCCC

wildtype AA sequence

mutated AA sequence

MVDGVMILPV LIMIALPSPS MEDEKPKVNP KLYMCVCEGL SCGNEDHCEG QQCFSSLSIN
DGFHVYQKGC FQVYEQGKMT CKTPPSPGQA VECCQGDWCN RNITAQLPTK GKSFPGTQNF
HLEVGLIILS VVFAVCLLAC LLGVALRKFK RRNQERLNPR DVEYGTIEGL ITTNVGDSTL
ADLLDHSCTS GSGSGLPFLV QRTVARQITL LECVGKGRYG EVWRGSWQGE NVAVKIFSSR
DEKSWFRETE LYNTVMLRHE NILGFIASDM TSRHSSTQLW LITHYHEMGS LYDYLQLTTL
DTVSCLRIVL SIASGLAHLH IEIFGTQGKP AIAHRDLKSK NILVKKNGQC CIADLDLAVM
HSQSTNQLDV GNNPRVGTKR YMAPEVLDET IQVDCFDSYK RVDIWAFGLV LWEVARRMVS
NGIVEDYKPP FYDVVPNDPS FEDMRKVVCV DQQRPNIPNR WFSDPTLTSL AKLMKECWYQ
NPSARLTALR IKKTLTKIDN SLDKLKTDC*

speed

1.39 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999999855 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM080031)
known disease mutation: rs18310 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:158617589C>TN/A show variant in all transcripts IGV

HGNC symbol

ACVR1

Ensembl transcript ID

ENST00000434821

Genbank transcript ID

NM_001111067

UniProt peptide

Q04771

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1067G>A
cDNA.1316G>A
g.114786G>A

AA changes

G356D Score: 94 explain score(s)

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

356

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
CTCF, Transcription Factor, CCCTC-binding factor

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.393	1
	6.271	1
(flanking)	6.271	1

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

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Acceptor lost	114785.5	sequence motif lost	-	wt: ttca\|GGCC mu: ttca.GACC
Acc marginally increased	114784	wt: 0.9973 / mu: 0.9975 (marginal change - not scored)	wt: ATTGTTATCTTCTTCCTTTCAGGCCTGGCAGTCATGCATTC mu: ATTGTTATCTTCTTCCTTTCAGACCTGGCAGTCATGCATTC	ttca\|GGCC
Acc marginally increased	114789	wt: 0.7474 / mu: 0.8056 (marginal change - not scored)	wt: TATCTTCTTCCTTTCAGGCCTGGCAGTCATGCATTCCCAGA mu: TATCTTCTTCCTTTCAGACCTGGCAGTCATGCATTCCCAGA	gcct\|GGCA
Acc marginally increased	114786	wt: 0.7581 / mu: 0.8121 (marginal change - not scored)	wt: TGTTATCTTCTTCCTTTCAGGCCTGGCAGTCATGCATTCCC mu: TGTTATCTTCTTCCTTTCAGACCTGGCAGTCATGCATTCCC	cagg\|CCTG
Acc increased	114777	wt: 0.52 / mu: 0.60	wt: TGATTACATTGTTATCTTCTTCCTTTCAGGCCTGGCAGTCA mu: TGATTACATTGTTATCTTCTTCCTTTCAGACCTGGCAGTCA	tctt\|CCTT
Acc marginally increased	114790	wt: 0.5364 / mu: 0.5479 (marginal change - not scored)	wt: ATCTTCTTCCTTTCAGGCCTGGCAGTCATGCATTCCCAGAG mu: ATCTTCTTCCTTTCAGACCTGGCAGTCATGCATTCCCAGAG	cctg\|GCAG
Acc marginally increased	114780	wt: 0.9801 / mu: 0.9823 (marginal change - not scored)	wt: TTACATTGTTATCTTCTTCCTTTCAGGCCTGGCAGTCATGC mu: TTACATTGTTATCTTCTTCCTTTCAGACCTGGCAGTCATGC	tcct\|TTCA
Acc marginally increased	114781	wt: 0.9740 / mu: 0.9749 (marginal change - not scored)	wt: TACATTGTTATCTTCTTCCTTTCAGGCCTGGCAGTCATGCA mu: TACATTGTTATCTTCTTCCTTTCAGACCTGGCAGTCATGCA	cctt\|TCAG
Acc marginally increased	114783	wt: 0.9928 / mu: 0.9928 (marginal change - not scored)	wt: CATTGTTATCTTCTTCCTTTCAGGCCTGGCAGTCATGCATT mu: CATTGTTATCTTCTTCCTTTCAGACCTGGCAGTCATGCATT	tttc\|AGGC
Donor increased	114784	wt: 0.37 / mu: 0.49	wt: CTTTCAGGCCTGGCA mu: CTTTCAGACCTGGCA	TTCA\|ggcc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

356

mutated

not conserved

356

Ptroglodytes

all identical

ENSPTRG00000012555

356

Mmulatta

all identical

ENSMMUG00000018497

356

Fcatus

all identical

ENSFCAG00000008054

356

Mmusculus

all identical

ENSMUSG00000026836

356

Ggallus

all identical

ENSGALG00000012551

175

Trubripes

all identical

ENSTRUG00000007007

360

Drerio

all identical

ENSDARG00000014986

353

Dmelanogaster

all identical

FBgn0003317

412

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000010380

359

protein features

start (aa)	end (aa)	feature	details
147	509	TOPO_DOM	Cytoplasmic (Potential).	lost
208	502	DOMAIN	Protein kinase.	lost
359	362	STRAND		might get lost (downstream of altered splice site)
363	366	TURN		might get lost (downstream of altered splice site)
367	369	STRAND		might get lost (downstream of altered splice site)
379	381	HELIX		might get lost (downstream of altered splice site)
384	387	HELIX		might get lost (downstream of altered splice site)
396	415	HELIX		might get lost (downstream of altered splice site)
430	434	TURN		might get lost (downstream of altered splice site)
441	448	HELIX		might get lost (downstream of altered splice site)
459	463	HELIX		might get lost (downstream of altered splice site)
465	477	HELIX		might get lost (downstream of altered splice site)
482	484	HELIX		might get lost (downstream of altered splice site)
488	498	HELIX		might get lost (downstream of altered splice site)
501	501	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1530 / 1530

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

510 / 510

position of stopcodon in wt / mu cDNA

1779 / 1779

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

250 / 250

chromosome

strand

-1

last intron/exon boundary

1645

theoretical NMD boundary in CDS

1345

length of CDS

1530

coding sequence (CDS) position

1067

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

1316

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

114786

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

158617589

original gDNA sequence snippet

TGTTATCTTCTTCCTTTCAGGCCTGGCAGTCATGCATTCCC

altered gDNA sequence snippet

TGTTATCTTCTTCCTTTCAGACCTGGCAGTCATGCATTCCC

original cDNA sequence snippet

GTGTTGCATAGCAGATTTGGGCCTGGCAGTCATGCATTCCC

altered cDNA sequence snippet

GTGTTGCATAGCAGATTTGGACCTGGCAGTCATGCATTCCC

wildtype AA sequence

mutated AA sequence

MVDGVMILPV LIMIALPSPS MEDEKPKVNP KLYMCVCEGL SCGNEDHCEG QQCFSSLSIN
DGFHVYQKGC FQVYEQGKMT CKTPPSPGQA VECCQGDWCN RNITAQLPTK GKSFPGTQNF
HLEVGLIILS VVFAVCLLAC LLGVALRKFK RRNQERLNPR DVEYGTIEGL ITTNVGDSTL
ADLLDHSCTS GSGSGLPFLV QRTVARQITL LECVGKGRYG EVWRGSWQGE NVAVKIFSSR
DEKSWFRETE LYNTVMLRHE NILGFIASDM TSRHSSTQLW LITHYHEMGS LYDYLQLTTL
DTVSCLRIVL SIASGLAHLH IEIFGTQGKP AIAHRDLKSK NILVKKNGQC CIADLDLAVM
HSQSTNQLDV GNNPRVGTKR YMAPEVLDET IQVDCFDSYK RVDIWAFGLV LWEVARRMVS
NGIVEDYKPP FYDVVPNDPS FEDMRKVVCV DQQRPNIPNR WFSDPTLTSL AKLMKECWYQ
NPSARLTALR IKKTLTKIDN SLDKLKTDC*

speed

1.35 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems