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: ENST00000264193
MT speed 0 s - this script 2.9806 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CPOX	disease_causing_automatic	0.999999999972348	simple_aae			0	G279R	single base exchange	rs121917874		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999972348 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM054652)
known disease mutation: rs463 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:98307675C>GN/A show variant in all transcripts IGV

HGNC symbol

CPOX

Ensembl transcript ID

ENST00000264193

Genbank transcript ID

NM_000097

UniProt peptide

P36551

alteration type

single base exchange

alteration region

CDS

DNA changes

c.835G>C
cDNA.1054G>C
g.4893G>C

AA changes

G279R Score: 125 explain score(s)

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

279

frameshift

known variant

Reference ID: rs121917874
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs463 (pathogenic for Coproporphyria, digenic) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM054652)

known disease mutation at this position, please check HGMD for details (HGMD ID CM054652)
known disease mutation at this position, please check HGMD for details (HGMD ID CM054652)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.33	1
	5.33	1
(flanking)	0.145	0.998

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

279

mutated

not conserved

279

Ptroglodytes

all identical

ENSPTRG00000015151

279

Mmulatta

all identical

ENSMMUG00000010833

278

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000022742

268

Ggallus

all identical

ENSGALG00000015240

181

Trubripes

all identical

ENSTRUG00000017671

281

Drerio

all identical

ENSDARG00000062025

275

Dmelanogaster

all identical

FBgn0021944

216

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000002047

229

protein features

start (aa)	end (aa)	feature	details
273	284	STRAND		lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1365 / 1365

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

455 / 455

position of stopcodon in wt / mu cDNA

1584 / 1584

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

220 / 220

chromosome

strand

-1

last intron/exon boundary

1497

theoretical NMD boundary in CDS

1227

length of CDS

1365

coding sequence (CDS) position

835

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

1054

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

4893

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

98307675

original gDNA sequence snippet

ACAAGCAGTGGTGGTTTGGTGGTGGATGTGACCTCACTCCA

altered gDNA sequence snippet

ACAAGCAGTGGTGGTTTGGTCGTGGATGTGACCTCACTCCA

original cDNA sequence snippet

ACAAGCAGTGGTGGTTTGGTGGTGGATGTGACCTCACTCCA

altered cDNA sequence snippet

ACAAGCAGTGGTGGTTTGGTCGTGGATGTGACCTCACTCCA

wildtype AA sequence

MALQLGRLSS GPCWLVARGG CGGPRAWSQC GGGGLRAWSQ RSAAGRVCRP PGPAGTEQSR
GLGHGSTSRG GPWVGTGLAA ALAGLVGLAT AAFGHVQRAE MLPKTSGTRA TSLGRPEEEE
DELAHRCSSF MAPPVTDLGE LRRRPGDMKT KMELLILETQ AQVCQALAQV DGGANFSVDR
WERKEGGGGI SCVLQDGCVF EKAGVSISVV HGNLSEEAAK QMRSRGKVLK TKDGKLPFCA
MGVSSVIHPK NPHAPTIHFN YRYFEVEEAD GNKQWWFGGG CDLTPTYLNQ EDAVHFHRTL
KEACDQHGPD LYPKFKKWCD DYFFIAHRGE RRGIGGIFFD DLDSPSKEEV FRFVQSCARA
VVPSYIPLVK KHCDDSFTPQ EKLWQQLRRG RYVEFNLLYD RGTKFGLFTP GSRIESILMS
LPLTARWEYM HSPSENSKEA EILEVLRHPR DWVR*

mutated AA sequence

MALQLGRLSS GPCWLVARGG CGGPRAWSQC GGGGLRAWSQ RSAAGRVCRP PGPAGTEQSR
GLGHGSTSRG GPWVGTGLAA ALAGLVGLAT AAFGHVQRAE MLPKTSGTRA TSLGRPEEEE
DELAHRCSSF MAPPVTDLGE LRRRPGDMKT KMELLILETQ AQVCQALAQV DGGANFSVDR
WERKEGGGGI SCVLQDGCVF EKAGVSISVV HGNLSEEAAK QMRSRGKVLK TKDGKLPFCA
MGVSSVIHPK NPHAPTIHFN YRYFEVEEAD GNKQWWFGRG CDLTPTYLNQ EDAVHFHRTL
KEACDQHGPD LYPKFKKWCD DYFFIAHRGE RRGIGGIFFD DLDSPSKEEV FRFVQSCARA
VVPSYIPLVK KHCDDSFTPQ EKLWQQLRRG RYVEFNLLYD RGTKFGLFTP GSRIESILMS
LPLTARWEYM HSPSENSKEA EILEVLRHPR DWVR*

speed

0.97 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