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: ENST00000302334
MT speed 0 s - this script 3.084939 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
BFSP2	disease_causing_automatic	0.999464854891227	simple_aae		affected	0	R287W	single base exchange	rs104893685		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999464854891227 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM001038)
known disease mutation: rs6583 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:133169276C>TN/A show variant in all transcripts IGV

HGNC symbol

BFSP2

Ensembl transcript ID

ENST00000302334

Genbank transcript ID

NM_003571

UniProt peptide

Q13515

alteration type

single base exchange

alteration region

CDS

DNA changes

c.859C>T
cDNA.948C>T
g.50438C>T

AA changes

R287W Score: 101 explain score(s)

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

287

frameshift

known variant

Reference ID: rs104893685

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

known disease mutation: rs6583 (pathogenic for Cataract 12, multiple types|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM001038)

known disease mutation at this position, please check HGMD for details (HGMD ID CM001038)
known disease mutation at this position, please check HGMD for details (HGMD ID CM001038)

regulatory features

H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.443	0.999
	1.509	1
(flanking)	3.946	0.998

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 gained	50431	0.47	mu: GTTGAAAAGAACTGG	TGAA\|aaga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

287

mutated

not conserved

287

Ptroglodytes

all identical

ENSPTRG00000015406

287

Mmulatta

all conserved

ENSMMUG00000019857

287

Fcatus

all identical

ENSFCAG00000005139

315

Mmusculus

all identical

ENSMUSG00000032556

288

Ggallus

all identical

ENSGALG00000011712

324

Trubripes

no homologue

Drerio

all identical

ENSDARG00000011998

267

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000033786

288

protein features

start (aa)	end (aa)	feature	details
115	395	REGION	Rod.	lost
309	400	COILED	Potential.	might get lost (downstream of altered splice site)
396	415	REGION	Tail.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1248 / 1248

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

416 / 416

position of stopcodon in wt / mu cDNA

1337 / 1337

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

90 / 90

chromosome

strand

last intron/exon boundary

1334

theoretical NMD boundary in CDS

1194

length of CDS

1248

coding sequence (CDS) position

859

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

948

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

50438

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

133169276

original gDNA sequence snippet

AGAGAGATGTTGAAAAGAACCGGGTGGAGGCAGGAGCCCTG

altered gDNA sequence snippet

AGAGAGATGTTGAAAAGAACTGGGTGGAGGCAGGAGCCCTG

original cDNA sequence snippet

AGAGAGATGTTGAAAAGAACCGGGTGGAGGCAGGAGCCCTG

altered cDNA sequence snippet

AGAGAGATGTTGAAAAGAACTGGGTGGAGGCAGGAGCCCTG

wildtype AA sequence

MSERRVVVDL PTSASSSMPL QRRRASFRGP RSSSSLESPP ASRTNAMSGL VRAPGVYVGT
APSGCIGGLG ARVTRRALGI SSVFLQGLRS SGLATVPAPG LERDHGAVED LGGCLVEYMA
KVHALEQVSQ ELETQLRMHL ESKATRSGNW GALRASWASS CQQVGEAVLE NARLMLQTET
IQAGADDFKE RYENEQPFRK AAEEEINSLY KVIDEANLTK MDLESQIESL KEELGSLSRN
YEEDVKLLHK QLAGCELEQM DAPIGTGLDD ILETIRIQWE RDVEKNRVEA GALLQAKQQA
EVAHMSQTQE EKLAAALRVE LHNTSCQVQS LQAETESLRA LKRGLENTLH DAKHWHDMEL
QNLGAVVGRL EAELREIRAE AEQQQQERAH LLARKCQLQK DVASYHALLD REESG*

mutated AA sequence

MSERRVVVDL PTSASSSMPL QRRRASFRGP RSSSSLESPP ASRTNAMSGL VRAPGVYVGT
APSGCIGGLG ARVTRRALGI SSVFLQGLRS SGLATVPAPG LERDHGAVED LGGCLVEYMA
KVHALEQVSQ ELETQLRMHL ESKATRSGNW GALRASWASS CQQVGEAVLE NARLMLQTET
IQAGADDFKE RYENEQPFRK AAEEEINSLY KVIDEANLTK MDLESQIESL KEELGSLSRN
YEEDVKLLHK QLAGCELEQM DAPIGTGLDD ILETIRIQWE RDVEKNWVEA GALLQAKQQA
EVAHMSQTQE EKLAAALRVE LHNTSCQVQS LQAETESLRA LKRGLENTLH DAKHWHDMEL
QNLGAVVGRL EAELREIRAE AEQQQQERAH LLARKCQLQK DVASYHALLD REESG*

speed

1.07 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