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

ENST00000446217

Genbank transcript ID

NM_001127255

UniProt peptide

Q8WX94

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1039G>A
cDNA.1442G>A
g.26449G>A

AA changes

V347I Score: 29 explain score(s)

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

347

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

347

mutated

all conserved

347

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

3198 / 3198

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

1066 / 1066

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

404 / 404

chromosome

strand

-1

last intron/exon boundary

3469

theoretical NMD boundary in CDS

3015

length of CDS

3198

coding sequence (CDS) position

1039

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

MSRKHRLEAR PDLREFFSLN LRSHTRSTMT SPQLEWTLQT LLEQLNEDEL KSFKSLLWAF
PLEDVLQKTP WSEVEEADGK KLAEILVNTS SENWIRNATV NILEEMNLTE LCKMAKAEMM
EDGQVQEIDN PELGDAEEDS ELAKPGEKEG WRNSMEKQSL VWKNTFWQGD IDNFHDDVTL
RNQRFIPFLN PRTPRKLTPY TVVLHGPAGV GKTTLAKKCM LDWTDCNLSP TLRYAFYLSC
KELSRMGPCS FAELISKDWP ELQDDIPSIL AQAQRILFVV DGLDELKVPP GALIQDICGD
WEKKKPVPVL LGSLLKRKML PRAALLVTTR PRALRDLQLL AQQPIYVRVE GFLEEDRRAY
FLRHFGDEDQ AMRAFELMRS NAALFQLGSA PAVCWIVCTT LKLQMEKGED PVPTCLTRTG
LFLRFLCSRF PQGAQLRGAL RTLSLLAAQG LWAQMSVFHR EDLERLGVQE SDLRLFLDGD
ILRQDRVSKG CYSFIHLSFQ QFLTALFYAL EKEEGEDRDG HAWDIGDVQK LLSGEERLKN
PDLIQVGHFL FGLANEKRAK ELEATFGCRM SPDIKQELLQ CKAHLHANKP LSVTDLKEVL
GCLYESQEEE LAKVVVAPFK EISIHLTNTS EVMHCSFSLK HCQDLQKLSL QVAKGVFLEN
YMDFELDIEF ERCTYLTIPN WARQDLRSLR LWTDFCSLFS SNSNLKFLEV KQSFLSDSSV
RILCDHVTRS TCHLQKVEIK NVTPDTAYRD FCLAFIGKKT LTHLTLAGHI EWERTMMLML
CDLLRNHKCN LQYLRLGGHC ATPEQWAEFF YVLKANQSLK HLRLSANVLL DEGAMLLYKT
MTRPKHFLQM LSLENCRLTE ASCKDLAAVL VVSKKLTHLC LAKNPIGDTG VKFLCEGLSY
PDCKLQTLVL QQCSITKLGC RYLSEALQEA CSLTNLDLSI NQIARGLWIL CQALENPNCN
LKHLRLWSCS LMPFYCQHLG SALLSNQKLE TLDLGQNHLW KSGIIKLFGV LRQRTGSLKI
LRLKTYETNL EIKKLLEEVK EKNPKLTIDC NASGATAPPC CDFFC*

mutated AA sequence

MSRKHRLEAR PDLREFFSLN LRSHTRSTMT SPQLEWTLQT LLEQLNEDEL KSFKSLLWAF
PLEDVLQKTP WSEVEEADGK KLAEILVNTS SENWIRNATV NILEEMNLTE LCKMAKAEMM
EDGQVQEIDN PELGDAEEDS ELAKPGEKEG WRNSMEKQSL VWKNTFWQGD IDNFHDDVTL
RNQRFIPFLN PRTPRKLTPY TVVLHGPAGV GKTTLAKKCM LDWTDCNLSP TLRYAFYLSC
KELSRMGPCS FAELISKDWP ELQDDIPSIL AQAQRILFVV DGLDELKVPP GALIQDICGD
WEKKKPVPVL LGSLLKRKML PRAALLVTTR PRALRDLQLL AQQPIYIRVE GFLEEDRRAY
FLRHFGDEDQ AMRAFELMRS NAALFQLGSA PAVCWIVCTT LKLQMEKGED PVPTCLTRTG
LFLRFLCSRF PQGAQLRGAL RTLSLLAAQG LWAQMSVFHR EDLERLGVQE SDLRLFLDGD
ILRQDRVSKG CYSFIHLSFQ QFLTALFYAL EKEEGEDRDG HAWDIGDVQK LLSGEERLKN
PDLIQVGHFL FGLANEKRAK ELEATFGCRM SPDIKQELLQ CKAHLHANKP LSVTDLKEVL
GCLYESQEEE LAKVVVAPFK EISIHLTNTS EVMHCSFSLK HCQDLQKLSL QVAKGVFLEN
YMDFELDIEF ERCTYLTIPN WARQDLRSLR LWTDFCSLFS SNSNLKFLEV KQSFLSDSSV
RILCDHVTRS TCHLQKVEIK NVTPDTAYRD FCLAFIGKKT LTHLTLAGHI EWERTMMLML
CDLLRNHKCN LQYLRLGGHC ATPEQWAEFF YVLKANQSLK HLRLSANVLL DEGAMLLYKT
MTRPKHFLQM LSLENCRLTE ASCKDLAAVL VVSKKLTHLC LAKNPIGDTG VKFLCEGLSY
PDCKLQTLVL QQCSITKLGC RYLSEALQEA CSLTNLDLSI NQIARGLWIL CQALENPNCN
LKHLRLWSCS LMPFYCQHLG SALLSNQKLE TLDLGQNHLW KSGIIKLFGV LRQRTGSLKI
LRLKTYETNL EIKKLLEEVK EKNPKLTIDC NASGATAPPC CDFFC*

speed

0.55 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