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 3.604153 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CPOX	disease_causing	0.999999976212903	simple_aae		affected		K404E	single base exchange	rs121917868		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999976212903 (explain)

Summary

amino acid sequence changed
known as potential disease variant: rs453 (probable pathogenic)
known disease mutation at this position (HGMD CM950324)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:98300318T>CN/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.1210A>G
cDNA.1429A>G
g.12250A>G

AA changes

K404E Score: 56 explain score(s)

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

404

frameshift

known variant

Reference ID: rs121917868

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	6	6

known as potential disease variant: rs453 (probable pathogenic for Harderoporphyria|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950324)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950324)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950324)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.331	1
	4.331	1
(flanking)	-0.05	0.991

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
Acc increased	12242	wt: 0.28 / mu: 0.55	wt: ATTTAATCTGCTGTATGATCGGGGCACAAAGTTTGGCCTCT mu: ATTTAATCTGCTGTATGATCGGGGCACAGAGTTTGGCCTCT	atcg\|GGGC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

404

mutated

all conserved

404

Ptroglodytes

all identical

ENSPTRG00000015151

404

Mmulatta

all identical

ENSMMUG00000010833

403

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000022742

393

Ggallus

all identical

ENSGALG00000015240

307

Trubripes

all identical

ENSTRUG00000017671

406

Drerio

all identical

ENSDARG00000062025

400

Dmelanogaster

all identical

FBgn0021944

341

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000002047

354

protein features

start (aa)	end (aa)	feature	details
392	418	MUTAGEN	Missing: Loss for dimerization.	lost
392	428	REGION	Important for dimerization.	lost
406	408	HELIX		might get lost (downstream of altered splice site)
409	411	STRAND		might get lost (downstream of altered splice site)
411	416	REGION	Substrate binding.	might get lost (downstream of altered splice site)
414	420	HELIX		might get lost (downstream of altered splice site)
438	447	HELIX		might get lost (downstream of altered splice site)

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

1210

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

1429

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

12250

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

98300318

original gDNA sequence snippet

TGCTGTATGATCGGGGCACAAAGTTTGGCCTCTTCACTCCA

altered gDNA sequence snippet

TGCTGTATGATCGGGGCACAGAGTTTGGCCTCTTCACTCCA

original cDNA sequence snippet

TGCTGTATGATCGGGGCACAAAGTTTGGCCTCTTCACTCCA

altered cDNA sequence snippet

TGCTGTATGATCGGGGCACAGAGTTTGGCCTCTTCACTCCA

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 GNKQWWFGGG CDLTPTYLNQ EDAVHFHRTL
KEACDQHGPD LYPKFKKWCD DYFFIAHRGE RRGIGGIFFD DLDSPSKEEV FRFVQSCARA
VVPSYIPLVK KHCDDSFTPQ EKLWQQLRRG RYVEFNLLYD RGTEFGLFTP GSRIESILMS
LPLTARWEYM HSPSENSKEA EILEVLRHPR DWVR*

speed

1.28 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