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: ENST00000375483
MT speed 0 s - this script 2.49806 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
BPIFB4	polymorphism_automatic	7.09691705402804e-09	simple_aae		affected		D199G	single base exchange	rs4339026		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999992903083 (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)

chr20:31671599A>GN/A show variant in all transcripts IGV

HGNC symbol

BPIFB4

Ensembl transcript ID

ENST00000375483

Genbank transcript ID

NM_182519

UniProt peptide

P59827

alteration type

single base exchange

alteration region

CDS

DNA changes

c.596A>G
cDNA.596A>G
g.4150A>G

AA changes

D199G Score: 94 explain score(s)

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

199

frameshift

known variant

Reference ID: rs4339026

database	homozygous (G/G)	heterozygous	allele carriers
1000G	157	854	1011
ExAC	3826	22015	25841

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.905	0.068
	1.803	0.072
(flanking)	-2.146	0.055

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	4149	0.70	mu: TTGGTGGTGGAGGAC	GGTG\|gtgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

199

mutated

not conserved

199

Ptroglodytes

all identical

ENSPTRG00000013390

156

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000015185

164

Mmusculus

all identical

ENSMUSG00000074665

201

Ggallus

no homologue

Trubripes

no alignment

ENSTRUG00000015256

n/a

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000007355

GGLLGN

protein features

start (aa)	end (aa)	feature	details
131	226	COMPBIAS	Gly-rich.	lost
273	273	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1845 / 1845

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

615 / 615

position of stopcodon in wt / mu cDNA

1845 / 1845

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

1 / 1

chromosome

strand

last intron/exon boundary

1822

theoretical NMD boundary in CDS

1771

length of CDS

1845

coding sequence (CDS) position

596

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

596

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

4150

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

31671599

original gDNA sequence snippet

CGGAGGTGGTCTCCTTGGTGATGGAGGACTTCTTGGAGGAG

altered gDNA sequence snippet

CGGAGGTGGTCTCCTTGGTGGTGGAGGACTTCTTGGAGGAG

original cDNA sequence snippet

CGGAGGTGGTCTCCTTGGTGATGGAGGACTTCTTGGAGGAG

altered cDNA sequence snippet

CGGAGGTGGTCTCCTTGGTGGTGGAGGACTTCTTGGAGGAG

wildtype AA sequence

MWMAWCVAAL SVVAVCGTSH ETNTVLRVTK DVLSNAISGM LQQSDALHSA LREVPLGVGD
IPYNDFHVRG PPPVYTNGKK LDGIYQYGHI ETNDNTAQLG GKYRYGEILE SEGSIRDLRN
SGYRSAENAY GGHRGLGRYR AAPVGRLHRR ELQPGEIPPG VATGAVGPGG LLGTGGMLAA
DGILAGQGGL LGGGGLLGDG GLLGGGGVLG VLGEGGILST VQGITGLRIV ELTLPRVSVR
LLPGVGVYLS LYTRVAINGK SLIGFLDIAV EVNITAKVRL TMDRTGYPRL VIERCDTLLG
GIKVKLLRGL LPNLVDNLVN RVLADVLPDL LCPIVDVVLG LVNDQLGLVD SLIPLGILGS
VQYTFSSLPL VTGEFLELDL NTLVGEAGGG LIDYPLGWPA VSPKPMPELP PMGDNTKSQL
AMSANFLGSV LTLLQKQHAL DLDITNGMFE ELPPLTTATL GALIPKVFQQ YPESCPLIIR
IQVLNPPSVM LQKDKALVKV LATAEVMVSQ PKDLETTICL IDVDTEFLAS FSTEGDKLMI
DAKLEKTSLN LRTSNVGNFD IGLMEVLVEK IFDLAFMPAM NAVLGSGVPL PKILNIDFSN
ADIDVLEDLL VLSA*

mutated AA sequence

MWMAWCVAAL SVVAVCGTSH ETNTVLRVTK DVLSNAISGM LQQSDALHSA LREVPLGVGD
IPYNDFHVRG PPPVYTNGKK LDGIYQYGHI ETNDNTAQLG GKYRYGEILE SEGSIRDLRN
SGYRSAENAY GGHRGLGRYR AAPVGRLHRR ELQPGEIPPG VATGAVGPGG LLGTGGMLAA
DGILAGQGGL LGGGGLLGGG GLLGGGGVLG VLGEGGILST VQGITGLRIV ELTLPRVSVR
LLPGVGVYLS LYTRVAINGK SLIGFLDIAV EVNITAKVRL TMDRTGYPRL VIERCDTLLG
GIKVKLLRGL LPNLVDNLVN RVLADVLPDL LCPIVDVVLG LVNDQLGLVD SLIPLGILGS
VQYTFSSLPL VTGEFLELDL NTLVGEAGGG LIDYPLGWPA VSPKPMPELP PMGDNTKSQL
AMSANFLGSV LTLLQKQHAL DLDITNGMFE ELPPLTTATL GALIPKVFQQ YPESCPLIIR
IQVLNPPSVM LQKDKALVKV LATAEVMVSQ PKDLETTICL IDVDTEFLAS FSTEGDKLMI
DAKLEKTSLN LRTSNVGNFD IGLMEVLVEK IFDLAFMPAM NAVLGSGVPL PKILNIDFSN
ADIDVLEDLL VLSA*

speed

0.44 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