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: ENST00000279146
MT speed 0 s - this script 2.324204 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
AIP	disease_causing	0.94698599468174	simple_aae		affected		R304Q	single base exchange	rs104894190		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.94698599468174 (explain)

Summary

amino acid sequence changed
heterozygous in TGP or ExAC
known disease mutation at this position (HGMD CM070646)
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:67258382G>AN/A show variant in all transcripts IGV

HGNC symbol

AIP

Ensembl transcript ID

ENST00000279146

Genbank transcript ID

NM_003977

UniProt peptide

O00170

alteration type

single base exchange

alteration region

CDS

DNA changes

c.911G>A
cDNA.1029G>A
g.7871G>A

AA changes

R304Q Score: 43 explain score(s)

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

304

frameshift

known variant

Reference ID: rs104894190

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	2	166	168

known disease mutation at this position, please check HGMD for details (HGMD ID CM070646)

known disease mutation at this position, please check HGMD for details (HGMD ID CM070646)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070646)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
PolII, Polymerase, RNA Polymerase II

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.039	0.997
	1.599	0.995
(flanking)	-0.191	0.968

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	7862	wt: 0.49 / mu: 0.60	wt: GCCTGTGGTGAGCCG mu: GCCTGTGGTGAGCCA	CTGT\|ggtg
Donor marginally increased	7867	wt: 0.9910 / mu: 0.9982 (marginal change - not scored)	wt: TGGTGAGCCGAGAGC mu: TGGTGAGCCAAGAGC	GTGA\|gccg
Donor increased	7869	wt: 0.21 / mu: 0.41	wt: GTGAGCCGAGAGCTG mu: GTGAGCCAAGAGCTG	GAGC\|cgag
Donor gained	7874	0.45	mu: CCAAGAGCTGCAGGC	AAGA\|gctg
Donor gained	7872	0.38	mu: AGCCAAGAGCTGCAG	CCAA\|gagc

distance from splice site

124

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

304

mutated

all conserved

304

Ptroglodytes

all identical

ENSPTRG00000003964

304

Mmulatta

all identical

ENSMMUG00000011817

304

Fcatus

all identical

ENSFCAG00000001749

304

Mmusculus

all identical

ENSMUSG00000024847

304

Ggallus

all conserved

ENSGALG00000013188

160

Trubripes

all conserved

ENSTRUG00000004014

305

Drerio

all conserved

ENSDARG00000069699

305

Dmelanogaster

all conserved

FBgn0030345

296

Celegans

all identical

C56C10.10

316

Xtropicalis

all conserved

ENSXETG00000017438

303

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

993 / 993

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

331 / 331

position of stopcodon in wt / mu cDNA

1111 / 1111

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

119 / 119

chromosome

strand

last intron/exon boundary

906

theoretical NMD boundary in CDS

737

length of CDS

993

coding sequence (CDS) position

911

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

1029

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

7871

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

67258382

original gDNA sequence snippet

CCTGGCGCCTGTGGTGAGCCGAGAGCTGCAGGCCCTGGAGG

altered gDNA sequence snippet

CCTGGCGCCTGTGGTGAGCCAAGAGCTGCAGGCCCTGGAGG

original cDNA sequence snippet

CCTGGCGCCTGTGGTGAGCCGAGAGCTGCAGGCCCTGGAGG

altered cDNA sequence snippet

CCTGGCGCCTGTGGTGAGCCAAGAGCTGCAGGCCCTGGAGG

wildtype AA sequence

MADIIARLRE DGIQKRVIQE GRGELPDFQD GTKATFHYRT LHSDDEGTVL DDSRARGKPM
ELIIGKKFKL PVWETIVCTM REGEIAQFLC DIKHVVLYPL VAKSLRNIAV GKDPLEGQRH
CCGVAQMREH SSLGHADLDA LQQNPQPLIF HMEMLKVESP GTYQQDPWAM TDEEKAKAVP
LIHQEGNRLY REGHVKEAAA KYYDAIACLK NLQMKEQPGS PEWIQLDQQI TPLLLNYCQC
KLVVEEYYEV LDHCSSILNK YDDNVKAYFK RGKAHAAVWN AQEAQADFAK VLELDPALAP
VVSRELQALE ARIRQKDEED KARFRGIFSH *

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

disease causing

Problems