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: ENST00000373178
MT speed 0 s - this script 3.073632 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ADPRS	polymorphism_automatic	0.725997544293838	simple_aae		affected		E209K	single base exchange	rs2236387		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.274002455706162 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:36557619G>AN/A show variant in all transcripts IGV

HGNC symbol

ADPRS

Ensembl transcript ID

ENST00000373178

Genbank transcript ID

NM_017825

UniProt peptide

Q9NX46

alteration type

single base exchange

alteration region

CDS

DNA changes

c.625G>A
cDNA.655G>A
g.3144G>A

AA changes

E209K Score: 56 explain score(s)

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

209

frameshift

known variant

Reference ID: rs2236387

database	homozygous (A/A)	heterozygous	allele carriers
1000G	116	640	756
ExAC	1289	7727	9016

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.589	0.563
	1.144	0.886
(flanking)	1.557	0.984

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 marginally increased	3141	wt: 0.8982 / mu: 0.9090 (marginal change - not scored)	wt: CTTCCAGCGAGCACT mu: CTTCCAGCAAGCACT	TCCA\|gcga
Donor increased	3140	wt: 0.65 / mu: 0.96	wt: TCTTCCAGCGAGCAC mu: TCTTCCAGCAAGCAC	TTCC\|agcg
Donor gained	3144	0.35	mu: CCAGCAAGCACTTTC	AGCA\|agca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

209

mutated

all conserved

209

Ptroglodytes

all identical

ENSPTRG00000000531

209

Mmulatta

all conserved

ENSMMUG00000012030

209

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000042558

215

Ggallus

all identical

ENSGALG00000002304

212

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000019338

198

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000004374

207

protein features

start (aa)	end (aa)	feature	details
208	222	HELIX		lost
226	234	HELIX		might get lost (downstream of altered splice site)
238	239	MUTAGEN	EE->QQ: Slight reduction in activity.	might get lost (downstream of altered splice site)
241	254	HELIX		might get lost (downstream of altered splice site)
255	257	STRAND		might get lost (downstream of altered splice site)
260	267	HELIX		might get lost (downstream of altered splice site)
261	262	MUTAGEN	EE->QQ: Slight reduction in activity.	might get lost (downstream of altered splice site)
270	272	STRAND		might get lost (downstream of altered splice site)
273	275	HELIX		might get lost (downstream of altered splice site)
277	286	HELIX		might get lost (downstream of altered splice site)
300	310	HELIX		might get lost (downstream of altered splice site)
314	314	METAL	Magnesium 2.	might get lost (downstream of altered splice site)
314	314	MUTAGEN	D->E: Complete loss of activity.	might get lost (downstream of altered splice site)
314	314	MUTAGEN	D->N: Significant loss of activity.	might get lost (downstream of altered splice site)
315	330	HELIX		might get lost (downstream of altered splice site)
316	316	METAL	Magnesium 2.	might get lost (downstream of altered splice site)
316	316	METAL	Magnesium 1.	might get lost (downstream of altered splice site)
317	317	MUTAGEN	T->S: Partial loss of activity.	might get lost (downstream of altered splice site)
317	317	MUTAGEN	T->A: Complete loss of activity.	might get lost (downstream of altered splice site)
317	317	METAL	Magnesium 2.	might get lost (downstream of altered splice site)
332	334	HELIX		might get lost (downstream of altered splice site)
337	341	HELIX		might get lost (downstream of altered splice site)
346	360	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1092 / 1092

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

364 / 364

position of stopcodon in wt / mu cDNA

1122 / 1122

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

31 / 31

chromosome

strand

last intron/exon boundary

833

theoretical NMD boundary in CDS

752

length of CDS

1092

coding sequence (CDS) position

625

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

655

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

3144

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

36557619

original gDNA sequence snippet

TGCAGGGCGAGTCTTCCAGCGAGCACTTTCTCAAGCAACTC

altered gDNA sequence snippet

TGCAGGGCGAGTCTTCCAGCAAGCACTTTCTCAAGCAACTC

original cDNA sequence snippet

TGCAGGGCGAGTCTTCCAGCGAGCACTTTCTCAAGCAACTC

altered cDNA sequence snippet

TGCAGGGCGAGTCTTCCAGCAAGCACTTTCTCAAGCAACTC

wildtype AA sequence

MAAAAMAAAA GGGAGAARSL SRFRGCLAGA LLGDCVGSFY EAHDTVDLTS VLRHVQSLEP
DPGTPGSERT EALYYTDDTA MARALVQSLL AKEAFDEVDM AHRFAQEYKK DPDRGYGAGV
VTVFKKLLNP KCRDVFEPAR AQFNGKGSYG NGGAMRVAGI SLAYSSVQDV QKFARLSAQL
THASSLGYNG AILQALAVHL ALQGESSSEH FLKQLLGHME DLEGDAQSVL DARELGMEER
PYSSRLKKIG ELLDQASVTR EEVVSELGNG IAAFESVPTA IYCFLRCMEP DPEIPSAFNS
LQRTLIYSIS LGGDTDTIAT MAGAIAGAYY GMDQVPESWQ QSCEGYEETD ILAQSLHRVF
QKS*

mutated AA sequence

MAAAAMAAAA GGGAGAARSL SRFRGCLAGA LLGDCVGSFY EAHDTVDLTS VLRHVQSLEP
DPGTPGSERT EALYYTDDTA MARALVQSLL AKEAFDEVDM AHRFAQEYKK DPDRGYGAGV
VTVFKKLLNP KCRDVFEPAR AQFNGKGSYG NGGAMRVAGI SLAYSSVQDV QKFARLSAQL
THASSLGYNG AILQALAVHL ALQGESSSKH FLKQLLGHME DLEGDAQSVL DARELGMEER
PYSSRLKKIG ELLDQASVTR EEVVSELGNG IAAFESVPTA IYCFLRCMEP DPEIPSAFNS
LQRTLIYSIS LGGDTDTIAT MAGAIAGAYY GMDQVPESWQ QSCEGYEETD ILAQSLHRVF
QKS*

speed

1.00 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

polymorphism

Problems