MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000270328
MT speed 0 s - this script 3.536026 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ADAMTS10	disease_causing_automatic	0.0174764389781029	simple_aae			0	A25T	single base exchange	rs121434358		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.0174764389781029 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM086762)
known disease mutation: rs1947 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:8670523C>TN/A show variant in all transcripts IGV

HGNC symbol

ADAMTS10

Ensembl transcript ID

ENST00000270328

Genbank transcript ID

N/A

UniProt peptide

Q9H324

alteration type

single base exchange

alteration region

CDS

DNA changes

c.73G>A
cDNA.340G>A
g.2661G>A

AA changes

A25T Score: 58 explain score(s)

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

frameshift

known variant

Reference ID: rs121434358

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	2	2

known disease mutation: rs1947 (pathogenic for Weill-Marchesani syndrome 1) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM086762)

known disease mutation at this position, please check HGMD for details (HGMD ID CM086762)
known disease mutation at this position, please check HGMD for details (HGMD ID CM086762)

regulatory features

Promoter Associated, Regulatory Feature, Promoter like regulatory feature
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.732	0.984
	1.131	0.815
(flanking)	-2.502	0.003

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

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000010429

Mmulatta

all identical

ENSMMUG00000016821

Fcatus

all identical

ENSFCAG00000015222

Mmusculus

all identical

ENSMUSG00000024299

Ggallus

no alignment

ENSGALG00000001544

n/a

Trubripes

no alignment

ENSTRUG00000006697

n/a

Drerio

no alignment

ENSDARG00000075188

n/a

Dmelanogaster

no alignment

FBgn0029791

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000009497

n/a

protein features

start (aa)	end (aa)	feature	details
1	25	SIGNAL	Potential.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3312 / 3312

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

1104 / 1104

position of stopcodon in wt / mu cDNA

3579 / 3579

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

3470

theoretical NMD boundary in CDS

3152

length of CDS

3312

coding sequence (CDS) position

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

340

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

2661

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

8670523

original gDNA sequence snippet

TCATGTTCGAGGTCACGCACGCCTTCCGGTCTCAAGGTAGG

altered gDNA sequence snippet

TCATGTTCGAGGTCACGCACACCTTCCGGTCTCAAGGTAGG

original cDNA sequence snippet

TCATGTTCGAGGTCACGCACGCCTTCCGGTCTCAAGATGAG

altered cDNA sequence snippet

TCATGTTCGAGGTCACGCACACCTTCCGGTCTCAAGATGAG

wildtype AA sequence

MAPACQILRW ALALGLGLMF EVTHAFRSQD EFLSSLESYE IAFPTRVDHN GALLAFSPPP
PRRQRRGTGA TAESRLFYKV ASPSTHFLLN LTRSSRLLAG HVSVEYWTRE GLAWQRAARP
HCLYAGHLQG QASTSHVAIS TCGGLHGLIV ADEEEYLIEP LHGGPKGSRS PEESGPHVVY
KRSSLRHPHL DTACGVRDEK PWKGRPWWLR TLKPPPARPL GNETERGQPG LKRSVSRERY
VETLVVADKM MVAYHGRRDV EQYVLAIMNI VAKLFQDSSL GSTVNILVTR LILLTEDQPT
LEITHHAGKS LDSFCKWQKS IVNHSGHGNA IPENGVANHD TAVLITRYDI CIYKNKPCGT
LGLAPVGGMC ERERSCSVNE DIGLATAFTI AHEIGHTFGM NHDGVGNSCG ARGQDPAKLM
AAHITMKTNP FVWSSCSRDY ITSFLDSGLG LCLNNRPPRQ DFVYPTVAPG QAYDADEQCR
FQHGVKSRQC KYGEVCSELW CLSKSNRCIT NSIPAAEGTL CQTHTIDKGW CYKRVCVPFG
SRPEGVDGAW GPWTPWGDCS RTCGGGVSSS SRHCDSPRPT IGGKYCLGER RRHRSCNTDD
CPPGSQDFRE VQCSEFDSIP FRGKFYKWKT YRGGGVKACS LTCLAEGFNF YTERAAAVVD
GTPCRPDTVD ICVSGECKHV GCDRVLGSDL REDKCRVCGG DGSACETIEG VFSPASPGAG
YEDVVWIPKG SVHIFIQDLN LSLSHLALKG DQESLLLEGL PGTPQPHRLP LAGTTFQLRQ
GPDQVQSLEA LGPINASLIV MVLARTELPA LRYRFNAPIA RDSLPPYSWH YAPWTKCSAQ
CAGGSQVQAV ECRNQLDSSA VAPHYCSAHS KLPKRQRACN TEPCPPDWVV GNWSLCSRSC
DAGVRSRSVV CQRRVSAAEE KALDDSACPQ PRPPVLEACH GPTCPPEWAA LDWSECTPSC
GPGLRHRVVL CKSADHRATL PPAHCSPAAK PPATMRCNLR RCPPARWVAG EWGECSAQCG
VGQRQRSVRC TSHTGQASHE CTEALRPPTT QQCEAKCDSP TPGDGPEECK DVNKVAYCPL
VLKFQFCSRA YFRQMCCKTC HGH*

mutated AA sequence

MAPACQILRW ALALGLGLMF EVTHTFRSQD EFLSSLESYE IAFPTRVDHN GALLAFSPPP
PRRQRRGTGA TAESRLFYKV ASPSTHFLLN LTRSSRLLAG HVSVEYWTRE GLAWQRAARP
HCLYAGHLQG QASTSHVAIS TCGGLHGLIV ADEEEYLIEP LHGGPKGSRS PEESGPHVVY
KRSSLRHPHL DTACGVRDEK PWKGRPWWLR TLKPPPARPL GNETERGQPG LKRSVSRERY
VETLVVADKM MVAYHGRRDV EQYVLAIMNI VAKLFQDSSL GSTVNILVTR LILLTEDQPT
LEITHHAGKS LDSFCKWQKS IVNHSGHGNA IPENGVANHD TAVLITRYDI CIYKNKPCGT
LGLAPVGGMC ERERSCSVNE DIGLATAFTI AHEIGHTFGM NHDGVGNSCG ARGQDPAKLM
AAHITMKTNP FVWSSCSRDY ITSFLDSGLG LCLNNRPPRQ DFVYPTVAPG QAYDADEQCR
FQHGVKSRQC KYGEVCSELW CLSKSNRCIT NSIPAAEGTL CQTHTIDKGW CYKRVCVPFG
SRPEGVDGAW GPWTPWGDCS RTCGGGVSSS SRHCDSPRPT IGGKYCLGER RRHRSCNTDD
CPPGSQDFRE VQCSEFDSIP FRGKFYKWKT YRGGGVKACS LTCLAEGFNF YTERAAAVVD
GTPCRPDTVD ICVSGECKHV GCDRVLGSDL REDKCRVCGG DGSACETIEG VFSPASPGAG
YEDVVWIPKG SVHIFIQDLN LSLSHLALKG DQESLLLEGL PGTPQPHRLP LAGTTFQLRQ
GPDQVQSLEA LGPINASLIV MVLARTELPA LRYRFNAPIA RDSLPPYSWH YAPWTKCSAQ
CAGGSQVQAV ECRNQLDSSA VAPHYCSAHS KLPKRQRACN TEPCPPDWVV GNWSLCSRSC
DAGVRSRSVV CQRRVSAAEE KALDDSACPQ PRPPVLEACH GPTCPPEWAA LDWSECTPSC
GPGLRHRVVL CKSADHRATL PPAHCSPAAK PPATMRCNLR RCPPARWVAG EWGECSAQCG
VGQRQRSVRC TSHTGQASHE CTEALRPPTT QQCEAKCDSP TPGDGPEECK DVNKVAYCPL
VLKFQFCSRA YFRQMCCKTC HGH*

speed

1.48 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

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

Problems