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 3.315493 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
AQP2	disease_causing_automatic	0.999825118148442	simple_aae		affected	0	C181W	single base exchange	rs104894337		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999825118148442 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM970102)
known disease mutation: rs17839 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:50348430C>GN/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.543C>G
cDNA.628C>G
g.3907C>G

AA changes

C181W Score: 215 explain score(s)

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

181

frameshift

known variant

Reference ID: rs104894337
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs17839 (pathogenic for Diabetes insipidus, nephrogenic, autosomal recessive) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM970102)

known disease mutation at this position, please check HGMD for details (HGMD ID CM970102)
known disease mutation at this position, please check HGMD for details (HGMD ID CM970102)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
USF1, Transcription Factor, USF1 Transcription Factor Binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.451	1
	0.669	1
(flanking)	2.161	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 gained	3901	0.67	mu: TACACCGGCTGGTCT	CACC\|ggct

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

181

mutated

not conserved

181

Ptroglodytes

not conserved

ENSPTRG00000004918

176

Mmulatta

all identical

ENSMMUG00000022916

181

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000023013

181

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0015872

189

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000020388

182

protein features

start (aa)	end (aa)	feature	details
177	202	TOPO_DOM	Extracellular (Potential).	lost
184	186	MOTIF	NPA 2.	might get lost (downstream of altered splice site)
203	224	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
225	271	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
229	229	MUTAGEN	S->A: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis.	might get lost (downstream of altered splice site)
229	229	MUTAGEN	S->D: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis.	might get lost (downstream of altered splice site)
231	231	MUTAGEN	S->A: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis.	might get lost (downstream of altered splice site)
231	231	MUTAGEN	S->D: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis.	might get lost (downstream of altered splice site)
244	244	MUTAGEN	T->E: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis.	might get lost (downstream of altered splice site)
244	244	MUTAGEN	T->A: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis.	might get lost (downstream of altered splice site)
256	256	MUTAGEN	S->D: Expressed in the apical membrane.	might get lost (downstream of altered splice site)
256	256	MUTAGEN	S->A: Retained in vesicles.	might get lost (downstream of altered splice site)
256	256	MOD_RES	Phosphoserine; by PKA.	might get lost (downstream of altered splice site)
261	261	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
264	264	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)

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

543

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

628

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

3907

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

50348430

original gDNA sequence snippet

CAGATCCATTACACCGGCTGCTCTATGAATCCTGCCCGCTC

altered gDNA sequence snippet

CAGATCCATTACACCGGCTGGTCTATGAATCCTGCCCGCTC

original cDNA sequence snippet

GGGATCCATTACACCGGCTGCTCTATGAATCCTGCCCGCTC

altered cDNA sequence snippet

GGGATCCATTACACCGGCTGGTCTATGAATCCTGCCCGCTC

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
HISGAHINPA VTVACLVGCH VSVLRAAFYV AAQLLGAVAG AALLHEITPA DIRGDLAVNA
LSNSTTAGQA VTVELFLTLQ LVLCIFASTD ERRGENPGTP ALSIGFSVAL GHLLGIHYTG
WSMNPARSLA PAVVTGKFDD HWVFWIGPLV GAILGSLLYN YVLFPPAKSL SERLAVLKGL
EPDTDWEERE VRRRQSVELH SPQSLPRGTK A*

speed

1.26 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