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: ENST00000307503
MT speed 0 s - this script 2.820543 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
AGXT	polymorphism	3.59412259953729e-08	simple_aae				I279M	single base exchange	rs180177277		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999964058774 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM056518)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:241815412T>GN/A show variant in all transcripts IGV

HGNC symbol

AGXT

Ensembl transcript ID

ENST00000307503

Genbank transcript ID

NM_000030

UniProt peptide

P21549

alteration type

single base exchange

alteration region

CDS

DNA changes

c.837T>G
cDNA.1224T>G
g.7517T>G

AA changes

I279M Score: 10 explain score(s)

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

279

frameshift

known variant

Reference ID: rs180177277
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM056518)

known disease mutation at this position, please check HGMD for details (HGMD ID CM056518)
known disease mutation at this position, please check HGMD for details (HGMD ID CM056518)

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.889	0.031
	-4.506	0
(flanking)	0.96	0.002

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	7519	wt: 0.2567 / mu: 0.2640 (marginal change - not scored)	wt: CATTGCGGAACAGGT mu: CATGGCGGAACAGGT	TTGC\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

279

mutated

all conserved

279

Ptroglodytes

not conserved

ENSPTRG00000013113

241

Mmulatta

all identical

ENSMMUG00000023435

301

Fcatus

all identical

ENSFCAG00000010448

279

Mmusculus

all identical

ENSMUSG00000026272

301

Ggallus

all conserved

ENSGALG00000020943

302

Trubripes

all conserved

ENSTRUG00000007149

309

Drerio

all conserved

ENSDARG00000018478

309

Dmelanogaster

not conserved

FBgn0014031

275

Celegans

all identical

T14D7.1

296

Xtropicalis

all conserved

ENSXETG00000012149

302

protein features

start (aa)	end (aa)	feature	details
266	282	HELIX		lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1179 / 1179

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

393 / 393

position of stopcodon in wt / mu cDNA

1566 / 1566

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

388 / 388

chromosome

strand

last intron/exon boundary

1459

theoretical NMD boundary in CDS

1021

length of CDS

1179

coding sequence (CDS) position

837

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

1224

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

7517

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

241815412

original gDNA sequence snippet

AGAGAGAGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCT

altered gDNA sequence snippet

AGAGAGAGCCTGGCCCTCATGGCGGAACAGGTGCATGGGCT

original cDNA sequence snippet

AGAGAGAGCCTGGCCCTCATTGCGGAACAGGGCCTGGAGAA

altered cDNA sequence snippet

AGAGAGAGCCTGGCCCTCATGGCGGAACAGGGCCTGGAGAA

wildtype AA sequence

MASHKLLVTP PKALLKPLSI PNQLLLGPGP SNLPPRIMAA GGLQMIGSMS KDMYQIMDEI
KEGIQYVFQT RNPLTLVISG SGHCALEAAL VNVLEPGDSF LVGANGIWGQ RAVDIGERIG
ARVHPMTKDP GGHYTLQEVE EGLAQHKPVL LFLTHGESST GVLQPLDGFG ELCHRYKCLL
LVDSVASLGG TPLYMDRQGI DILYSGSQKA LNAPPGTSLI SFSDKAKKKM YSRKTKPFSF
YLDIKWLANF WGCDDQPRMY HHTIPVISLY SLRESLALIA EQGLENSWRQ HREAAAYLHG
RLQALGLQLF VKDPALRLPT VTTVAVPAGY DWRDIVSYVI DHFDIEIMGG LGPSTGKVLR
IGLLGCNATR ENVDRVTEAL RAALQHCPKK KL*

mutated AA sequence

MASHKLLVTP PKALLKPLSI PNQLLLGPGP SNLPPRIMAA GGLQMIGSMS KDMYQIMDEI
KEGIQYVFQT RNPLTLVISG SGHCALEAAL VNVLEPGDSF LVGANGIWGQ RAVDIGERIG
ARVHPMTKDP GGHYTLQEVE EGLAQHKPVL LFLTHGESST GVLQPLDGFG ELCHRYKCLL
LVDSVASLGG TPLYMDRQGI DILYSGSQKA LNAPPGTSLI SFSDKAKKKM YSRKTKPFSF
YLDIKWLANF WGCDDQPRMY HHTIPVISLY SLRESLALMA EQGLENSWRQ HREAAAYLHG
RLQALGLQLF VKDPALRLPT VTTVAVPAGY DWRDIVSYVI DHFDIEIMGG LGPSTGKVLR
IGLLGCNATR ENVDRVTEAL RAALQHCPKK KL*

speed

0.80 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