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: ENST00000458276
MT speed 0 s - this script 2.549632 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ABHD5	disease_causing_automatic	0.999999999842093	simple_aae		affected	0	Q130P	single base exchange	rs28939077		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999842093 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM013306)
known disease mutation: rs5350 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:43743962A>CN/A show variant in all transcripts IGV

HGNC symbol

ABHD5

Ensembl transcript ID

ENST00000458276

Genbank transcript ID

NM_016006

UniProt peptide

Q8WTS1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.389A>C
cDNA.512A>C
g.12358A>C

AA changes

Q130P Score: 76 explain score(s)

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

130

frameshift

known variant

Reference ID: rs28939077
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs5350 (pathogenic for Triglyceride storage disease with ichthyosis) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM013306)

known disease mutation at this position, please check HGMD for details (HGMD ID CM013306)
known disease mutation at this position, please check HGMD for details (HGMD ID CM013306)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.187	1
	4.833	1
(flanking)	3.199	1

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 increased	12349	wt: 0.51 / mu: 0.67	wt: AGAAGTGGAGAATCA mu: AGAAGTGGAGAATCC	AAGT\|ggag

distance from splice site

118

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

130

mutated

not conserved

130

Ptroglodytes

all identical

ENSPTRG00000014812

130

Mmulatta

all identical

ENSMMUG00000001031

130

Fcatus

all identical

ENSFCAG00000008874

Mmusculus

all identical

ENSMUSG00000032540

132

Ggallus

all identical

ENSGALG00000011510

124

Trubripes

all identical

ENSTRUG00000013439

126

Drerio

all identical

ENSDARG00000076874

125

Dmelanogaster

all identical

FBgn0033226

167

Celegans

all conserved

C37H5.3

215

Xtropicalis

all identical

ENSXETG00000022025

152

protein features

start (aa)	end (aa)	feature	details
263	263	CONFLICT	F -> S (in Ref. 2; AAD34053).	might get lost (downstream of altered splice site)
327	332	MOTIF	HXXXXD motif.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1050 / 1050

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

350 / 350

position of stopcodon in wt / mu cDNA

1173 / 1173

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

124 / 124

chromosome

strand

last intron/exon boundary

1084

theoretical NMD boundary in CDS

910

length of CDS

1050

coding sequence (CDS) position

389

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

512

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

12358

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

43743962

original gDNA sequence snippet

TGCAGAAGAAGTGGAGAATCAGTTTGTGGAATCCATTGAAG

altered gDNA sequence snippet

TGCAGAAGAAGTGGAGAATCCGTTTGTGGAATCCATTGAAG

original cDNA sequence snippet

TGCAGAAGAAGTGGAGAATCAGTTTGTGGAATCCATTGAAG

altered cDNA sequence snippet

TGCAGAAGAAGTGGAGAATCCGTTTGTGGAATCCATTGAAG

wildtype AA sequence

MAAEEEEVDS ADTGERSGWL TGWLPTWCPT SISHLKEAEE KMLKCVPCTY KKEPVRISNG
NKIWTLKFSH NISNKTPLVL LHGFGGGLGL WALNFGDLCT NRPVYAFDLL GFGRSSRPRF
DSDAEEVENQ FVESIEEWRC ALGLDKMILL GHNLGGFLAA AYSLKYPSRV NHLILVEPWG
FPERPDLADQ DRPIPVWIRA LGAALTPFNP LAGLRIAGPF GLSLVQRLRP DFKRKYSSMF
EDDTVTEYIY HCNVQTPSGE TAFKNMTIPY GWAKRPMLQR IGKMHPDIPV SVIFGARSCI
DGNSGTSIQS LRPHSYVKTI AILGAGHYVY ADQPEEFNQK VKEICDTVD*

mutated AA sequence

MAAEEEEVDS ADTGERSGWL TGWLPTWCPT SISHLKEAEE KMLKCVPCTY KKEPVRISNG
NKIWTLKFSH NISNKTPLVL LHGFGGGLGL WALNFGDLCT NRPVYAFDLL GFGRSSRPRF
DSDAEEVENP FVESIEEWRC ALGLDKMILL GHNLGGFLAA AYSLKYPSRV NHLILVEPWG
FPERPDLADQ DRPIPVWIRA LGAALTPFNP LAGLRIAGPF GLSLVQRLRP DFKRKYSSMF
EDDTVTEYIY HCNVQTPSGE TAFKNMTIPY GWAKRPMLQR IGKMHPDIPV SVIFGARSCI
DGNSGTSIQS LRPHSYVKTI AILGAGHYVY ADQPEEFNQK VKEICDTVD*

speed

0.49 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