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: ENST00000369816
MT speed 0 s - this script 2.314205 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ELOVL4	polymorphism_automatic	1.44993263950788e-07	simple_aae				M299V	single base exchange	rs3812153		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999855006736 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM052232)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:80626375T>CN/A show variant in all transcripts IGV

HGNC symbol

ELOVL4

Ensembl transcript ID

ENST00000369816

Genbank transcript ID

NM_022726

UniProt peptide

Q9GZR5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.895A>G
cDNA.1196A>G
g.30923A>G

AA changes

M299V Score: 21 explain score(s)

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

299

frameshift

known variant

Reference ID: rs3812153

database	homozygous (C/C)	heterozygous	allele carriers
1000G	178	854	1032
ExAC	2334	16107	18441

known disease mutation at this position, please check HGMD for details (HGMD ID CM052232)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.152	0.904
	3.921	0.916
(flanking)	-0.381	0.298

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 marginally increased	30914	wt: 0.8301 / mu: 0.8312 (marginal change - not scored)	wt: CAGAAAAACAACTCA mu: CAGAAAAACAACTCG	GAAA\|aaca

distance from splice site

226

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

299

mutated

all conserved

299

Ptroglodytes

all conserved

ENSPTRG00000018370

299

Mmulatta

all conserved

ENSMMUG00000020208

299

Fcatus

all conserved

ENSFCAG00000006421

265

Mmusculus

not conserved

ENSMUSG00000032262

299

Ggallus

all conserved

ENSGALG00000015876

265

Trubripes

not conserved

ENSTRUG00000004612

288

Drerio

not conserved

ENSDARG00000006773

288

Dmelanogaster

no alignment

FBgn0036128

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

945 / 945

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

315 / 315

position of stopcodon in wt / mu cDNA

1246 / 1246

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

302 / 302

chromosome

strand

-1

last intron/exon boundary

971

theoretical NMD boundary in CDS

619

length of CDS

945

coding sequence (CDS) position

895

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

1196

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

30923

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

80626375

original gDNA sequence snippet

GCAAATCAGAAAAACAACTCATGATAGAAAATGGAAAAAAG

altered gDNA sequence snippet

GCAAATCAGAAAAACAACTCGTGATAGAAAATGGAAAAAAG

original cDNA sequence snippet

GCAAATCAGAAAAACAACTCATGATAGAAAATGGAAAAAAG

altered cDNA sequence snippet

GCAAATCAGAAAAACAACTCGTGATAGAAAATGGAAAAAAG

wildtype AA sequence

MGLLDSEPGS VLNVVSTALN DTVEFYRWTW SIADKRVENW PLMQSPWPTL SISTLYLLFV
WLGPKWMKDR EPFQMRLVLI IYNFGMVLLN LFIFRELFMG SYNAGYSYIC QSVDYSNNVH
EVRIAAALWW YFVSKGVEYL DTVFFILRKK NNQVSFLHVY HHCTMFTLWW IGIKWVAGGQ
AFFGAQLNSF IHVIMYSYYG LTAFGPWIQK YLWWKRYLTM LQLIQFHVTI GHTALSLYTD
CPFPKWMHWA LIAYAISFIF LFLNFYIRTY KEPKKPKAGK TAMNGISANG VSKSEKQLMI
ENGKKQKNGK AKGD*

mutated AA sequence

speed

0.30 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