mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999995584 (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)

chr19:55451232C>TN/A show variant in all transcripts IGV

HGNC symbol

NLRP7

Ensembl transcript ID

ENST00000588756

Genbank transcript ID

NM_001127255

UniProt peptide

Q8WX94

alteration type

single base exchange

alteration region

CDS

DNA changes

c.955G>A
cDNA.1442G>A
g.26449G>A

AA changes

V319I Score: 29 explain score(s)

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

319

frameshift

known variant

Reference ID: rs775882

database	homozygous (T/T)	heterozygous	allele carriers
1000G	245	957	1202
ExAC	3903	21375	25278

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.284	0
	-3.476	0
(flanking)	-0.346	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	26447	wt: 0.9635 / mu: 0.9822 (marginal change - not scored)	wt: GATCTACGTAAGGGT mu: GATCTACATAAGGGT	TCTA\|cgta
Donor marginally increased	26454	wt: 0.9733 / mu: 0.9904 (marginal change - not scored)	wt: GTAAGGGTGGAGGGC mu: ATAAGGGTGGAGGGC	AAGG\|gtgg
Acc gained	26452	0.31	mu: CGCAGCAGCCGATCTACATAAGGGTGGAGGGCTTCCTGGAG	ataa\|GGGT
Donor gained	26449	0.37	mu: TCTACATAAGGGTGG	TACA\|taag
Donor gained	26452	0.43	mu: ACATAAGGGTGGAGG	ATAA\|gggt

distance from splice site

603

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

319

mutated

all conserved

319

Ptroglodytes

all identical

ENSPTRG00000011479

347

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000035177

327

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000088955

311

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
172	491	DOMAIN	NACHT.	lost
481	481	CONFLICT	A -> T (in Ref. 4; AAI09126).	might get lost (downstream of altered splice site)
614	638	REPEAT	LRR 1.	might get lost (downstream of altered splice site)
674	697	REPEAT	LRR 2.	might get lost (downstream of altered splice site)
760	784	REPEAT	LRR 3.	might get lost (downstream of altered splice site)
788	810	REPEAT	LRR 4.	might get lost (downstream of altered splice site)
817	840	REPEAT	LRR 5.	might get lost (downstream of altered splice site)
845	868	REPEAT	LRR 6.	might get lost (downstream of altered splice site)
874	897	REPEAT	LRR 7.	might get lost (downstream of altered splice site)
902	928	REPEAT	LRR 8.	might get lost (downstream of altered splice site)
933	957	REPEAT	LRR 9.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3114 / 3114

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

1038 / 1038

position of stopcodon in wt / mu cDNA

3601 / 3601

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

488 / 488

chromosome

strand

-1

last intron/exon boundary

3469

theoretical NMD boundary in CDS

2931

length of CDS

3114

coding sequence (CDS) position

955

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

1442

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

26449

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

55451232

original gDNA sequence snippet

TGGCGCAGCAGCCGATCTACGTAAGGGTGGAGGGCTTCCTG

altered gDNA sequence snippet

TGGCGCAGCAGCCGATCTACATAAGGGTGGAGGGCTTCCTG

original cDNA sequence snippet

TGGCGCAGCAGCCGATCTACGTAAGGGTGGAGGGCTTCCTG

altered cDNA sequence snippet

TGGCGCAGCAGCCGATCTACATAAGGGTGGAGGGCTTCCTG

wildtype AA sequence

MTSPQLEWTL QTLLEQLNED ELKSFKSLLW AFPLEDVLQK TPWSEVEEAD GKKLAEILVN
TSSENWIRNA TVNILEEMNL TELCKMAKAE MMEDGQVQEI DNPELGDAEE DSELAKPGEK
EGWRNSMEKQ SLVWKNTFWQ GDIDNFHDDV TLRNQRFIPF LNPRTPRKLT PYTVVLHGPA
GVGKTTLAKK CMLDWTDCNL SPTLRYAFYL SCKELSRMGP CSFAELISKD WPELQDDIPS
ILAQAQRILF VVDGLDELKV PPGALIQDIC GDWEKKKPVP VLLGSLLKRK MLPRAALLVT
TRPRALRDLQ LLAQQPIYVR VEGFLEEDRR AYFLRHFGDE DQAMRAFELM RSNAALFQLG
SAPAVCWIVC TTLKLQMEKG EDPVPTCLTR TGLFLRFLCS RFPQGAQLRG ALRTLSLLAA
QGLWAQMSVF HREDLERLGV QESDLRLFLD GDILRQDRVS KGCYSFIHLS FQQFLTALFY
ALEKEEGEDR DGHAWDIGDV QKLLSGEERL KNPDLIQVGH FLFGLANEKR AKELEATFGC
RMSPDIKQEL LQCKAHLHAN KPLSVTDLKE VLGCLYESQE EELAKVVVAP FKEISIHLTN
TSEVMHCSFS LKHCQDLQKL SLQVAKGVFL ENYMDFELDI EFERCTYLTI PNWARQDLRS
LRLWTDFCSL FSSNSNLKFL EVKQSFLSDS SVRILCDHVT RSTCHLQKVE IKNVTPDTAY
RDFCLAFIGK KTLTHLTLAG HIEWERTMML MLCDLLRNHK CNLQYLRLGG HCATPEQWAE
FFYVLKANQS LKHLRLSANV LLDEGAMLLY KTMTRPKHFL QMLSLENCRL TEASCKDLAA
VLVVSKKLTH LCLAKNPIGD TGVKFLCEGL SYPDCKLQTL VLQQCSITKL GCRYLSEALQ
EACSLTNLDL SINQIARGLW ILCQALENPN CNLKHLRLWS CSLMPFYCQH LGSALLSNQK
LETLDLGQNH LWKSGIIKLF GVLRQRTGSL KILRLKTYET NLEIKKLLEE VKEKNPKLTI
DCNASGATAP PCCDFFC*

mutated AA sequence

MTSPQLEWTL QTLLEQLNED ELKSFKSLLW AFPLEDVLQK TPWSEVEEAD GKKLAEILVN
TSSENWIRNA TVNILEEMNL TELCKMAKAE MMEDGQVQEI DNPELGDAEE DSELAKPGEK
EGWRNSMEKQ SLVWKNTFWQ GDIDNFHDDV TLRNQRFIPF LNPRTPRKLT PYTVVLHGPA
GVGKTTLAKK CMLDWTDCNL SPTLRYAFYL SCKELSRMGP CSFAELISKD WPELQDDIPS
ILAQAQRILF VVDGLDELKV PPGALIQDIC GDWEKKKPVP VLLGSLLKRK MLPRAALLVT
TRPRALRDLQ LLAQQPIYIR VEGFLEEDRR AYFLRHFGDE DQAMRAFELM RSNAALFQLG
SAPAVCWIVC TTLKLQMEKG EDPVPTCLTR TGLFLRFLCS RFPQGAQLRG ALRTLSLLAA
QGLWAQMSVF HREDLERLGV QESDLRLFLD GDILRQDRVS KGCYSFIHLS FQQFLTALFY
ALEKEEGEDR DGHAWDIGDV QKLLSGEERL KNPDLIQVGH FLFGLANEKR AKELEATFGC
RMSPDIKQEL LQCKAHLHAN KPLSVTDLKE VLGCLYESQE EELAKVVVAP FKEISIHLTN
TSEVMHCSFS LKHCQDLQKL SLQVAKGVFL ENYMDFELDI EFERCTYLTI PNWARQDLRS
LRLWTDFCSL FSSNSNLKFL EVKQSFLSDS SVRILCDHVT RSTCHLQKVE IKNVTPDTAY
RDFCLAFIGK KTLTHLTLAG HIEWERTMML MLCDLLRNHK CNLQYLRLGG HCATPEQWAE
FFYVLKANQS LKHLRLSANV LLDEGAMLLY KTMTRPKHFL QMLSLENCRL TEASCKDLAA
VLVVSKKLTH LCLAKNPIGD TGVKFLCEGL SYPDCKLQTL VLQQCSITKL GCRYLSEALQ
EACSLTNLDL SINQIARGLW ILCQALENPN CNLKHLRLWS CSLMPFYCQH LGSALLSNQK
LETLDLGQNH LWKSGIIKLF GVLRQRTGSL KILRLKTYET NLEIKKLLEE VKEKNPKLTI
DCNASGATAP PCCDFFC*

speed

0.12 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