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: ENST00000390649
MT speed 0 s - this script 3.216269 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
NLRP5	polymorphism_automatic	5.49560397189452e-14	simple_aae				M912T	single base exchange	rs16986899		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999945 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:56549510T>CN/A show variant in all transcripts IGV

HGNC symbol

NLRP5

Ensembl transcript ID

ENST00000390649

Genbank transcript ID

NM_153447

UniProt peptide

P59047

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2735T>C
cDNA.2735T>C
g.38419T>C

AA changes

M912T Score: 81 explain score(s)

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

912

frameshift

known variant

Reference ID: rs16986899

database	homozygous (C/C)	heterozygous	allele carriers
1000G	227	873	1100
ExAC	2788	18499	21287

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.026	0
	-1.039	0
(flanking)	-0.421	0

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	38410	wt: 0.8554 / mu: 0.8673 (marginal change - not scored)	wt: AGACCAGGGAGTAAT mu: AGACCAGGGAGTAAC	ACCA\|ggga
Donor marginally increased	38414	wt: 0.9916 / mu: 0.9947 (marginal change - not scored)	wt: CAGGGAGTAATGCCT mu: CAGGGAGTAACGCCT	GGGA\|gtaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

912

mutated

not conserved

912

Ptroglodytes

not conserved

ENSPTRG00000011533

889

Mmulatta

no homologue

Fcatus

no alignment

ENSFCAG00000004002

n/a

Mmusculus

all conserved

ENSMUSG00000015721

823

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
893	916	REPEAT	LRR 7.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3603 / 3603

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

1201 / 1201

position of stopcodon in wt / mu cDNA

3603 / 3603

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

1 / 1

chromosome

strand

last intron/exon boundary

3471

theoretical NMD boundary in CDS

3420

length of CDS

3603

coding sequence (CDS) position

2735

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

2735

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

38419

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

56549510

original gDNA sequence snippet

GGTGACAGACCAGGGAGTAATGCCTCTCAGTGATGCCTTGA

altered gDNA sequence snippet

GGTGACAGACCAGGGAGTAACGCCTCTCAGTGATGCCTTGA

original cDNA sequence snippet

GGTGACAGACCAGGGAGTAATGCCTCTCAGTGATGCCTTGA

altered cDNA sequence snippet

GGTGACAGACCAGGGAGTAACGCCTCTCAGTGATGCCTTGA

wildtype AA sequence

MKVAGGLELG AAALLSASPR ALVTLSTGPT CSILPKNPLF PQNLSSQPCI KMEGDKSLTF
SSYGLQWCLY ELDKEEFQTF KELLKKKSSE STTCSIPQFE IENANVECLA LLLHEYYGAS
LAWATSISIF ENMNLRTLSE KARDDMKRHS PEDPEATMTD QGPSKEKVPG ISQAVQQDSA
TAAETKEQEI SQAMEQEGAT AAETEEQEIS QAMEQEGATA AETEEQGHGG DTWDYKSHVM
TKFAEEEDVR RSFENTAADW PEMQTLAGAF DSDRWGFRPR TVVLHGKSGI GKSALARRIV
LCWAQGGLYQ GMFSYVFFLP VREMQRKKES SVTEFISREW PDSQAPVTEI MSRPERLLFI
IDGFDDLGSV LNNDTKLCKD WAEKQPPFTL IRSLLRKVLL PESFLIVTVR DVGTEKLKSE
VVSPRYLLVR GISGEQRIHL LLERGIGEHQ KTQGLRAIMN NRELLDQCQV PAVGSLICVA
LQLQDVVGES VAPFNQTLTG LHAAFVFHQL TPRGVVRRCL NLEERVVLKR FCRMAVEGVW
NRKSVFDGDD LMVQGLGESE LRALFHMNIL LPDSHCEEYY TFFHLSLQDF CAALYYVLEG
LEIEPALCPL YVEKTKRSME LKQAGFHIHS LWMKRFLFGL VSEDVRRPLE VLLGCPVPLG
VKQKLLHWVS LLGQQPNATT PGDTLDAFHC LFETQDKEFV RLALNSFQEV WLPINQNLDL
IASSFCLQHC PYLRKIRVDV KGIFPRDESA EACPVVPLWM RDKTLIEEQW EDFCSMLGTH
PHLRQLDLGS SILTERAMKT LCAKLRHPTC KIQTLMFRNA QITPGVQHLW RIVMANRNLR
SLNLGGTHLK EEDVRMACEA LKHPKCLLES LRLDCCGLTH ACYLKISQIL TTSPSLKSLS
LAGNKVTDQG VMPLSDALRV SQCALQKLIL EDCGITATGC QSLASALVSN RSLTHLCLSN
NSLGNEGVNL LCRSMRLPHC SLQRLMLNQC HLDTAGCGFL ALALMGNSWL THLSLSMNPV
EDNGVKLLCE VMREPSCHLQ DLELVKCHLT AACCESLSCV ISRSRHLKSL DLTDNALGDG
GVAALCEGLK QKNSVLARLG LKACGLTSDC CEALSLALSC NRHLTSLNLV QNNFSPKGMM
KLCSAFACPT SNLQIIGLWK WQYPVQIRKL LEEVQLLKPR VVIDGSWHSF DEDDRYWWKN
*

mutated AA sequence

MKVAGGLELG AAALLSASPR ALVTLSTGPT CSILPKNPLF PQNLSSQPCI KMEGDKSLTF
SSYGLQWCLY ELDKEEFQTF KELLKKKSSE STTCSIPQFE IENANVECLA LLLHEYYGAS
LAWATSISIF ENMNLRTLSE KARDDMKRHS PEDPEATMTD QGPSKEKVPG ISQAVQQDSA
TAAETKEQEI SQAMEQEGAT AAETEEQEIS QAMEQEGATA AETEEQGHGG DTWDYKSHVM
TKFAEEEDVR RSFENTAADW PEMQTLAGAF DSDRWGFRPR TVVLHGKSGI GKSALARRIV
LCWAQGGLYQ GMFSYVFFLP VREMQRKKES SVTEFISREW PDSQAPVTEI MSRPERLLFI
IDGFDDLGSV LNNDTKLCKD WAEKQPPFTL IRSLLRKVLL PESFLIVTVR DVGTEKLKSE
VVSPRYLLVR GISGEQRIHL LLERGIGEHQ KTQGLRAIMN NRELLDQCQV PAVGSLICVA
LQLQDVVGES VAPFNQTLTG LHAAFVFHQL TPRGVVRRCL NLEERVVLKR FCRMAVEGVW
NRKSVFDGDD LMVQGLGESE LRALFHMNIL LPDSHCEEYY TFFHLSLQDF CAALYYVLEG
LEIEPALCPL YVEKTKRSME LKQAGFHIHS LWMKRFLFGL VSEDVRRPLE VLLGCPVPLG
VKQKLLHWVS LLGQQPNATT PGDTLDAFHC LFETQDKEFV RLALNSFQEV WLPINQNLDL
IASSFCLQHC PYLRKIRVDV KGIFPRDESA EACPVVPLWM RDKTLIEEQW EDFCSMLGTH
PHLRQLDLGS SILTERAMKT LCAKLRHPTC KIQTLMFRNA QITPGVQHLW RIVMANRNLR
SLNLGGTHLK EEDVRMACEA LKHPKCLLES LRLDCCGLTH ACYLKISQIL TTSPSLKSLS
LAGNKVTDQG VTPLSDALRV SQCALQKLIL EDCGITATGC QSLASALVSN RSLTHLCLSN
NSLGNEGVNL LCRSMRLPHC SLQRLMLNQC HLDTAGCGFL ALALMGNSWL THLSLSMNPV
EDNGVKLLCE VMREPSCHLQ DLELVKCHLT AACCESLSCV ISRSRHLKSL DLTDNALGDG
GVAALCEGLK QKNSVLARLG LKACGLTSDC CEALSLALSC NRHLTSLNLV QNNFSPKGMM
KLCSAFACPT SNLQIIGLWK WQYPVQIRKL LEEVQLLKPR VVIDGSWHSF DEDDRYWWKN
*

speed

1.16 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