MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000299001
MT speed 0 s - this script 3.457718 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
PIWIL4	polymorphism_automatic	0.561675539940367	simple_aae		affected		Q327L	single base exchange	rs11020845		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.438324460059633 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:94322352A>TN/A show variant in all transcripts IGV

HGNC symbol

PIWIL4

Ensembl transcript ID

ENST00000299001

Genbank transcript ID

NM_152431

UniProt peptide

Q7Z3Z4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.980A>T
cDNA.1191A>T
g.45347A>T

AA changes

Q327L Score: 113 explain score(s)

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

327

frameshift

known variant

Reference ID: rs11020845

database	homozygous (T/T)	heterozygous	allele carriers
1000G	110	722	832
ExAC	3735	21301	25036

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.338	0.96
	-0.417	0.921
(flanking)	1.566	0.988

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	45345	wt: 0.8827 / mu: 0.8913 (marginal change - not scored)	wt: ACCTTTCAGAAGCGG mu: ACCTTTCTGAAGCGG	CTTT\|caga
Acc gained	45349	0.37	mu: AGCCCACACACACCTTTCTGAAGCGGGATGGCACCGAGATC	ctga\|AGCG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

327

mutated

not conserved

327

Ptroglodytes

all identical

ENSPTRG00000004187

327

Mmulatta

all identical

ENSMMUG00000008965

327

Fcatus

all identical

ENSFCAG00000010914

321

Mmusculus

all identical

ENSMUSG00000036912

369

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all conserved

FBgn0250816

346

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000006411

267

protein features

start (aa)	end (aa)	feature	details
268	384	DOMAIN	PAZ.	lost
510	510	CONFLICT	A -> T (in Ref. 2; BAC04873).	might get lost (downstream of altered splice site)
546	838	DOMAIN	Piwi.	might get lost (downstream of altered splice site)
701	701	CONFLICT	K -> E (in Ref. 2; BAC04179).	might get lost (downstream of altered splice site)
719	719	CONFLICT	S -> G (in Ref. 2; BAC04179).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2559 / 2559

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

853 / 853

position of stopcodon in wt / mu cDNA

2770 / 2770

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

212 / 212

chromosome

strand

last intron/exon boundary

2654

theoretical NMD boundary in CDS

2392

length of CDS

2559

coding sequence (CDS) position

980

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

1191

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

45347

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

94322352

original gDNA sequence snippet

GAAGCCCACACACACCTTTCAGAAGCGGGATGGCACCGAGA

altered gDNA sequence snippet

GAAGCCCACACACACCTTTCTGAAGCGGGATGGCACCGAGA

original cDNA sequence snippet

GAAGCCCACACACACCTTTCAGAAGCGGGATGGCACCGAGA

altered cDNA sequence snippet

GAAGCCCACACACACCTTTCTGAAGCGGGATGGCACCGAGA

wildtype AA sequence

MSGRARVKAR GIARSPSATE VGRIQASPLP RSVDLSNNEA SSSNGFLGTS RISTNDKYGI
SSGDAGSTFM ERGVKNKQDF MDLSICTREK LAHVRNCKTG SSGIPVKLVT NLFNLDFPQD
WQLYQYHVTY IPDLASRRLR IALLYSHSEL SNKAKAFDGA ILFLSQKLEE KVTELSSETQ
RGETIKMTIT LKRELPSSSP VCIQVFNIIF RKILKKLSMY QIGRNFYNPS EPMEIPQHKL
SLWPGFAISV SYFERKLLFS ADVSYKVLRN ETVLEFMTAL CQRTGLSCFT QTCEKQLIGL
IVLTRYNNRT YSIDDIDWSV KPTHTFQKRD GTEITYVDYY KQQYDITVSD LNQPMLVSLL
KKKRNDNSEA QLAHLIPELC FLTGLTDQAT SDFQLMKAVA EKTRLSPSGR QQRLARLVDN
IQRNTNARFE LETWGLHFGS QISLTGRIVP SEKILMQDHI CQPVSAADWS KDIRTCKILN
AQSLNTWLIL CSDRTEYVAE SFLNCLRRVA GSMGFNVDYP KIIKVQENPA AFVRAIQQYV
DPDVQLVMCI LPSNQKTYYD SIKKYLSSDC PVPSQCVLAR TLNKQGMMMS IATKIAMQMT
CKLGGELWAV EIPLKSLMVV GIDVCKDALS KDVMVVGCVA SVNPRITRWF SRCILQRTMT
DVADCLKVFM TGALNKWYKY NHDLPARIIV YRAGVGDGQL KTLIEYEVPQ LLSSVAESSS
NTSSRLSVIV VRKKCMPRFF TEMNRTVQNP PLGTVVDSEA TRNEWYDFYL ISQVACRGTV
SPTYYNVIYD DNGLKPDHMQ RLTFKLCHLY YNWPGIVSVP APCQYAHKLT FLVAQSIHKE
PSLELANHLF YL*

mutated AA sequence

MSGRARVKAR GIARSPSATE VGRIQASPLP RSVDLSNNEA SSSNGFLGTS RISTNDKYGI
SSGDAGSTFM ERGVKNKQDF MDLSICTREK LAHVRNCKTG SSGIPVKLVT NLFNLDFPQD
WQLYQYHVTY IPDLASRRLR IALLYSHSEL SNKAKAFDGA ILFLSQKLEE KVTELSSETQ
RGETIKMTIT LKRELPSSSP VCIQVFNIIF RKILKKLSMY QIGRNFYNPS EPMEIPQHKL
SLWPGFAISV SYFERKLLFS ADVSYKVLRN ETVLEFMTAL CQRTGLSCFT QTCEKQLIGL
IVLTRYNNRT YSIDDIDWSV KPTHTFLKRD GTEITYVDYY KQQYDITVSD LNQPMLVSLL
KKKRNDNSEA QLAHLIPELC FLTGLTDQAT SDFQLMKAVA EKTRLSPSGR QQRLARLVDN
IQRNTNARFE LETWGLHFGS QISLTGRIVP SEKILMQDHI CQPVSAADWS KDIRTCKILN
AQSLNTWLIL CSDRTEYVAE SFLNCLRRVA GSMGFNVDYP KIIKVQENPA AFVRAIQQYV
DPDVQLVMCI LPSNQKTYYD SIKKYLSSDC PVPSQCVLAR TLNKQGMMMS IATKIAMQMT
CKLGGELWAV EIPLKSLMVV GIDVCKDALS KDVMVVGCVA SVNPRITRWF SRCILQRTMT
DVADCLKVFM TGALNKWYKY NHDLPARIIV YRAGVGDGQL KTLIEYEVPQ LLSSVAESSS
NTSSRLSVIV VRKKCMPRFF TEMNRTVQNP PLGTVVDSEA TRNEWYDFYL ISQVACRGTV
SPTYYNVIYD DNGLKPDHMQ RLTFKLCHLY YNWPGIVSVP APCQYAHKLT FLVAQSIHKE
PSLELANHLF YL*

speed

1.39 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