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: ENST00000361256
MT speed 0 s - this script 2.986057 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SPOUT1	polymorphism_automatic	1.88959958791202e-13	simple_aae		affected		I369T	single base exchange	rs2280843		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999811 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:131585069A>GN/A show variant in all transcripts IGV

HGNC symbol

SPOUT1

Ensembl transcript ID

ENST00000361256

Genbank transcript ID

NM_016390

UniProt peptide

Q5T280

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1106T>C
cDNA.1147T>C
g.7032T>C

AA changes

I369T Score: 89 explain score(s)

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

369

frameshift

known variant

Reference ID: rs2280843

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1020	984	2004
ExAC	20001	-7235	12766

regulatory features

PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.075	0.002
	-0.433	0.001
(flanking)	0.131	0.009

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 increased	7031	wt: 0.43 / mu: 0.59	wt: GCCTCATCCAGGCGG mu: GCCTCACCCAGGCGG	CTCA\|tcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

369

mutated

not conserved

369

Ptroglodytes

no alignment

ENSPTRG00000023427

n/a

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000039660

370

Ggallus

no homologue

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000019707

n/a

Dmelanogaster

no alignment

FBgn0033473

n/a

Celegans

no alignment

B0361.6

n/a

Xtropicalis

no alignment

ENSXETG00000004745

n/a

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1131 / 1131

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

377 / 377

position of stopcodon in wt / mu cDNA

1172 / 1172

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

-1

last intron/exon boundary

1104

theoretical NMD boundary in CDS

1012

length of CDS

1131

coding sequence (CDS) position

1106

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

1147

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

7032

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

131585069

original gDNA sequence snippet

CGCCCTGCAGCCTGGCCTCATCCAGGCGGGTGCCCGGCACA

altered gDNA sequence snippet

CGCCCTGCAGCCTGGCCTCACCCAGGCGGGTGCCCGGCACA

original cDNA sequence snippet

CGCCCTGCAGCCTGGCCTCATCCAGGCGGGTGCCCGGCACA

altered cDNA sequence snippet

CGCCCTGCAGCCTGGCCTCACCCAGGCGGGTGCCCGGCACA

wildtype AA sequence

MAERGRKRPC GPGEHGQRIE WRKWKQQKKE EKKKWKDLKL MKKLERQRAQ EEQAKRLEEE
EAAAEKEDRG RPYTLSVALP GSILDNAQSP ELRTYLAGQI ARACAIFCVD EIVVFDEEGQ
DAKTVEGEFT GVGKKGQACV QLARILQYLE CPQYLRKAFF PKHQDLQFAG LLNPLDSPHH
MRQDEESEFR EGIVVDRPTR PGHGSFVNCG MKKEVKIDKN LEPGLRVTVR LNQQQHPDCK
TYHGKVVSSQ DPRTKAGLYW GYTVRLASCL SAVFAEAPFQ DGYDLTIGTS ERGSDVASAQ
LPNFRHALVV FGGLQGLEAG ADADPNLEVA EPSVLFDLYV NTCPGQGSRT IRTEEAILIS
LAALQPGLIQ AGARHT*

mutated AA sequence

speed

0.98 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