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: ENST00000371265
MT speed 0 s - this script 3.200536 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
BSND	disease_causing_automatic	0.203884587377426	simple_aae		affected	0	G47R	single base exchange	rs74315289		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.203884587377426 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM035675)
known disease mutation: rs4387 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:55464998G>AN/A show variant in all transcripts IGV

HGNC symbol

BSND

Ensembl transcript ID

ENST00000371265

Genbank transcript ID

NM_057176

UniProt peptide

Q8WZ55

alteration type

single base exchange

alteration region

CDS

DNA changes

c.139G>A
cDNA.393G>A
g.393G>A

AA changes

G47R Score: 125 explain score(s)

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

frameshift

known variant

Reference ID: rs74315289

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	9	9

known disease mutation: rs4387 (pathogenic for Bartter disease type 4a|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM035675)

known disease mutation at this position, please check HGMD for details (HGMD ID CM035675)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035675)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.345	0.306
	1.312	0.871
(flanking)	0.972	0.956

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	393	0.80	mu: TGATCAGGGGCATCA	ATCA\|gggg

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

no homologue

Mmulatta

all identical

ENSMMUG00000005735

Fcatus

no alignment

ENSFCAG00000008815

n/a

Mmusculus

all identical

ENSMUSG00000025418

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000086265

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
33	53	TRANSMEM	Helical; (Potential).	lost
54	320	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
98	98	MUTAGEN	Y->A: Stimulation of CLCNKA and CLCNKB currents enhanced; intense localization in the plasma membrane with no intracellular localization observed.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

963 / 963

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

321 / 321

position of stopcodon in wt / mu cDNA

1217 / 1217

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

255 / 255

chromosome

strand

last intron/exon boundary

803

theoretical NMD boundary in CDS

498

length of CDS

963

coding sequence (CDS) position

139

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

393

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

393

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

55464998

original gDNA sequence snippet

TGGGCAGCGTCATGGTGATCGGGGGCATCATCTGGAGCATG

altered gDNA sequence snippet

TGGGCAGCGTCATGGTGATCAGGGGCATCATCTGGAGCATG

original cDNA sequence snippet

TGGGCAGCGTCATGGTGATCGGGGGCATCATCTGGAGCATG

altered cDNA sequence snippet

TGGGCAGCGTCATGGTGATCAGGGGCATCATCTGGAGCATG

wildtype AA sequence

MADEKTFRIG FIVLGLFLLA LGTFLMSHDR PQVYGTFYAM GSVMVIGGII WSMCQCYPKI
TFVPADSDFQ GILSPKAMGL LENGLAAEMK SPSPQPPYVR LWEEAAYDQS LPDFSHIQMK
VMSYSEDHRS LLAPEMGQPK LGTSDGGEGG PGDVQAWMEA AVVIHKGSDE SEGERRLTQS
WPGPLACPQG PAPLASFQDD LDMDSSEGSS PNASPHDREE ACSPQQEPQG CRCPLDRFQD
FALIDAPTLE DEPQEGQQWE IALPNNWQRY PRTKVEEKEA SDTGGEEPEK EEEDLYYGLP
DGAGDLLPDK ELGFEPDTQG *

mutated AA sequence

MADEKTFRIG FIVLGLFLLA LGTFLMSHDR PQVYGTFYAM GSVMVIRGII WSMCQCYPKI
TFVPADSDFQ GILSPKAMGL LENGLAAEMK SPSPQPPYVR LWEEAAYDQS LPDFSHIQMK
VMSYSEDHRS LLAPEMGQPK LGTSDGGEGG PGDVQAWMEA AVVIHKGSDE SEGERRLTQS
WPGPLACPQG PAPLASFQDD LDMDSSEGSS PNASPHDREE ACSPQQEPQG CRCPLDRFQD
FALIDAPTLE DEPQEGQQWE IALPNNWQRY PRTKVEEKEA SDTGGEEPEK EEEDLYYGLP
DGAGDLLPDK ELGFEPDTQG *

speed

1.14 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