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: ENST00000394323
MT speed 0 s - this script 3.127281 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ERV3-1	polymorphism_automatic	5.17122260013103e-07	simple_aae		affected		C192Y	single base exchange	rs34639489		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999948287774 (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)

chr7:64452830C>TN/A show variant in all transcripts IGV

HGNC symbol

ERV3-1

Ensembl transcript ID

ENST00000394323

Genbank transcript ID

NM_001007253

UniProt peptide

Q14264

alteration type

single base exchange

alteration region

CDS

DNA changes

c.575G>A
cDNA.1076G>A
g.14292G>A

AA changes

C192Y Score: 194 explain score(s)

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

192

frameshift

known variant

Reference ID: rs34639489

database	homozygous (T/T)	heterozygous	allele carriers
1000G	609	1143	1752
ExAC	18290	-3813	14477

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.167	0.387
	0.187	0.376
(flanking)	0.167	0.363

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	14287	0.37	mu: GAACCAGATTATAAA	ACCA\|gatt

distance from splice site

963

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

192

mutated

not conserved

192

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000008267

192

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
201	201	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
218	218	CONFLICT	A -> T (in Ref. 2; AAA88027).	might get lost (downstream of altered splice site)
226	226	CONFLICT	G -> D (in Ref. 2; AAA88027).	might get lost (downstream of altered splice site)
251	251	CONFLICT	F -> L (in Ref. 2; AAA88027).	might get lost (downstream of altered splice site)
316	316	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
369	369	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
382	382	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
399	399	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
441	441	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
471	472	SITE	Cleavage (By similarity).	might get lost (downstream of altered splice site)
527	527	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
548	564	MOTIF	CKS-17 (By similarity).	might get lost (downstream of altered splice site)
565	574	MOTIF	CX6CC (By similarity).	might get lost (downstream of altered splice site)
569	569	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

1815 / 1815

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

605 / 605

position of stopcodon in wt / mu cDNA

2316 / 2316

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

502 / 502

chromosome

strand

-1

last intron/exon boundary

114

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

1815

coding sequence (CDS) position

575

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

1076

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

14292

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

64452830

original gDNA sequence snippet

AATACCATTAGAACCAGATTGTAAAACAAGCACTTGCAATT

altered gDNA sequence snippet

AATACCATTAGAACCAGATTATAAAACAAGCACTTGCAATT

original cDNA sequence snippet

AATACCATTAGAACCAGATTGTAAAACAAGCACTTGCAATT

altered cDNA sequence snippet

AATACCATTAGAACCAGATTATAAAACAAGCACTTGCAATT

wildtype AA sequence

MLGMNMLLIT LFLLLPLSML KGEPWEGCLH CTHTTWSGNI MTKTLLYHTY YECAGTCLGT
CTHNQTTYSV CDPGRGQPYV CYDPKSSPGT WFEIHVGSKE GDLLNQTKVF PSGKDVVSLY
FDVCQIVSMG SLFPVIFSSM EYYSSCHKNR YAHPACSTDS PVTTCWDCTT WSTNQQSLGP
IMLTKIPLEP DCKTSTCNSV NLTILEPDQP IWTTGLKAPL GARVSGEEIG PGAYVYLYII
KKTRTRSTQQ FRVFESFYEH VNQKLPEPPP LASNLFAQLA ENIASSLHVA SCYVCGGMNM
GDQWPWEARE LMPQDNFTLT ASSLEPAPSS QSIWFLKTSI IGKFCIARWG KAFTDPVGEL
TCLGQQYYNE TLGKTLWRGK SNNSESPHPS PFSRFPSLNH SWYQLEAPNT WQAPSGLYWI
CGPQAYRQLP AKWSGACVLG TIRPSFFLMP LKQGEALGYP IYDETKRKSK RGITIGDWKD
NEWPPERIIQ YYGPATWAED GMWGYRTPVY MLNRIIRLQA VLEIITNETA GALNLLAQQA
TKMRNVIYQN RLALDYLLAQ EEGVCGKFNL TNCCLELDDE GKVIKEITAK IQKLAHIPVQ
TWKG*

mutated AA sequence

MLGMNMLLIT LFLLLPLSML KGEPWEGCLH CTHTTWSGNI MTKTLLYHTY YECAGTCLGT
CTHNQTTYSV CDPGRGQPYV CYDPKSSPGT WFEIHVGSKE GDLLNQTKVF PSGKDVVSLY
FDVCQIVSMG SLFPVIFSSM EYYSSCHKNR YAHPACSTDS PVTTCWDCTT WSTNQQSLGP
IMLTKIPLEP DYKTSTCNSV NLTILEPDQP IWTTGLKAPL GARVSGEEIG PGAYVYLYII
KKTRTRSTQQ FRVFESFYEH VNQKLPEPPP LASNLFAQLA ENIASSLHVA SCYVCGGMNM
GDQWPWEARE LMPQDNFTLT ASSLEPAPSS QSIWFLKTSI IGKFCIARWG KAFTDPVGEL
TCLGQQYYNE TLGKTLWRGK SNNSESPHPS PFSRFPSLNH SWYQLEAPNT WQAPSGLYWI
CGPQAYRQLP AKWSGACVLG TIRPSFFLMP LKQGEALGYP IYDETKRKSK RGITIGDWKD
NEWPPERIIQ YYGPATWAED GMWGYRTPVY MLNRIIRLQA VLEIITNETA GALNLLAQQA
TKMRNVIYQN RLALDYLLAQ EEGVCGKFNL TNCCLELDDE GKVIKEITAK IQKLAHIPVQ
TWKG*

speed

1.03 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