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: ENST00000199280
MT speed 0 s - this script 2.524821 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
AQP2	disease_causing	0.999999741111952	simple_aae				G64R	single base exchange	rs104894326		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999741111952 (explain)

Summary

amino acid sequence changed
known as potential disease variant: rs17830 (probable pathogenic)
known disease mutation at this position (HGMD CM940082)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:50344803G>AN/A show variant in all transcripts IGV

HGNC symbol

AQP2

Ensembl transcript ID

ENST00000199280

Genbank transcript ID

NM_000486

UniProt peptide

P41181

alteration type

single base exchange

alteration region

CDS

DNA changes

c.190G>A
cDNA.275G>A
g.280G>A

AA changes

G64R Score: 125 explain score(s)

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

frameshift

known variant

Reference ID: rs104894326

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	2	2

known as potential disease variant: rs17830 (probable pathogenic for Nephrogenic diabetes insipidus|Diabetes insipidus, nephrogenic, autosomal recessive|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940082)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940082)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940082)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.371	0.89
	5.198	1
(flanking)	5.198	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 marginally increased	277	wt: 0.9952 / mu: 0.9953 (marginal change - not scored)	wt: ACATAAGCGGGGCCC mu: ACATAAGCAGGGCCC	ATAA\|gcgg

distance from splice site

171

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000004918

Mmulatta

all identical

ENSMMUG00000022916

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000023013

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all identical

FBgn0015872

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000020388

protein features

start (aa)	end (aa)	feature	details
60	85	TOPO_DOM	Cytoplasmic (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

816 / 816

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

272 / 272

position of stopcodon in wt / mu cDNA

901 / 901

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

86 / 86

chromosome

strand

last intron/exon boundary

692

theoretical NMD boundary in CDS

556

length of CDS

816

coding sequence (CDS) position

190

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

275

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

280

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

50344803

original gDNA sequence snippet

AGGCTCTGGGCCACATAAGCGGGGCCCACATCAACCCTGCC

altered gDNA sequence snippet

AGGCTCTGGGCCACATAAGCAGGGCCCACATCAACCCTGCC

original cDNA sequence snippet

AGGCTCTGGGCCACATAAGCGGGGCCCACATCAACCCTGCC

altered cDNA sequence snippet

AGGCTCTGGGCCACATAAGCAGGGCCCACATCAACCCTGCC

wildtype AA sequence

MWELRSIAFS RAVFAEFLAT LLFVFFGLGS ALNWPQALPS VLQIAMAFGL GIGTLVQALG
HISGAHINPA VTVACLVGCH VSVLRAAFYV AAQLLGAVAG AALLHEITPA DIRGDLAVNA
LSNSTTAGQA VTVELFLTLQ LVLCIFASTD ERRGENPGTP ALSIGFSVAL GHLLGIHYTG
CSMNPARSLA PAVVTGKFDD HWVFWIGPLV GAILGSLLYN YVLFPPAKSL SERLAVLKGL
EPDTDWEERE VRRRQSVELH SPQSLPRGTK A*

mutated AA sequence

MWELRSIAFS RAVFAEFLAT LLFVFFGLGS ALNWPQALPS VLQIAMAFGL GIGTLVQALG
HISRAHINPA VTVACLVGCH VSVLRAAFYV AAQLLGAVAG AALLHEITPA DIRGDLAVNA
LSNSTTAGQA VTVELFLTLQ LVLCIFASTD ERRGENPGTP ALSIGFSVAL GHLLGIHYTG
CSMNPARSLA PAVVTGKFDD HWVFWIGPLV GAILGSLLYN YVLFPPAKSL SERLAVLKGL
EPDTDWEERE VRRRQSVELH SPQSLPRGTK A*

speed

0.52 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