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UniProtKB/Swiss-Prot Q9C000: Variant p.Met1184Val

NACHT, LRR and PYD domains-containing protein 1
Gene: NLRP1
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Variant information Variant position: help 1184
Type of variant: help LB/B
Residue change: help From Methionine (M) to Valine (V) at position 1184 (M1184V, p.Met1184Val).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Variant description: help Increased autocatalytic processing and IL1B release.
Other resources: help


Sequence information Variant position: help 1184
Protein sequence length: help 1473
Location on the sequence: help VHLPHFVALQGGHVDTSLFQ M AHFKEEGMLLEKPARVELHH
Residue conservation: help 
Human                         VHLPHFVAL-QGGHVDTSLFQMAHFKEEGMLLEKPARVELHH

Zebrafish                     AHLPHYMCLAESDPALTNAVKLLSVEDEGISLESVELTRFH
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1473 NACHT, LRR and PYD domains-containing protein 1
Chain 1 – 1212 NACHT, LRR and PYD domains-containing protein 1, N-terminus
Domain 1079 – 1364 FIIND
Region 1079 – 1212 ZU5
Mutagenesis 1168 – 1168 H -> A. Complete loss of autocatalytic processing and of IL1B release. Autocatalytic processing cannot be restored by treatment with hydroxylamine.
Mutagenesis 1186 – 1186 H -> A. Complete loss of autocatalytic processing and of IL1B release. Autocatalytic processing can be restored by treatment with hydroxylamine.
Beta strand 1184 – 1188



Literature citations
The PYRIN domain: a novel motif found in apoptosis and inflammation proteins.
Bertin J.; DiStefano P.S.;
Cell Death Differ. 7:1273-1274(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANTS HIS-155; SER-246; MET-878; VAL-1119; VAL-1184; LEU-1241 AND CYS-1366; The full-ORF clone resource of the German cDNA consortium.
Bechtel S.; Rosenfelder H.; Duda A.; Schmidt C.P.; Ernst U.; Wellenreuther R.; Mehrle A.; Schuster C.; Bahr A.; Bloecker H.; Heubner D.; Hoerlein A.; Michel G.; Wedler H.; Koehrer K.; Ottenwaelder B.; Poustka A.; Wiemann S.; Schupp I.;
BMC Genomics 8:399-399(2007)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 282-1473 (ISOFORM 1); VARIANT VAL-1184; Autolytic proteolysis within the function to find domain (FIIND) is required for NLRP1 inflammasome activity.
Finger J.N.; Lich J.D.; Dare L.C.; Cook M.N.; Brown K.K.; Duraiswami C.; Bertin J.J.; Bertin J.; Gough P.J.;
J. Biol. Chem. 287:25030-25037(2012)
Cited for: PROTEIN SEQUENCE OF 1213-1224; FUNCTION; INTERACTION WITH PYCARD; INVOLVEMENT IN INFLAMMASOME COMPLEX; AUTOCATALYTIC CLEAVAGE; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS VAL-1119 AND VAL-1184; MUTAGENESIS OF HIS-1168; HIS-1186; SER-1211; PHE-1212; SER-1213; PRO-1214 AND HIS-1249;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.