Variant position: 66 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1473 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human EKTSGMEVASYLVAQYGEQR AWDLALHTWEQMGLRSLCAQA
Zebrafish LLSAGDKVGEFLNELIDH-- -----LNLFKVLG--------
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 1473 NACHT, LRR and PYD domains-containing protein 1
1 – 1212 NACHT, LRR and PYD domains-containing protein 1, N-terminus
1 – 92 Pyrin
1 – 966 Missing. In isoform 7.
1 – 734 Missing. In isoform 6.
76 – 76 Q -> A. No effect on cleavage by HRV-14 Protease 3C.
85 – 85 Q -> A. No effect on cleavage by HRV-14 Protease 3C.
63 – 77
Germline NLRP1 mutations cause skin inflammatory and cancer susceptibility syndromes via inflammasome activation.
Zhong F.L.; Mamai O.; Sborgi L.; Boussofara L.; Hopkins R.; Robinson K.; Szeverenyi I.; Takeichi T.; Balaji R.; Lau A.; Tye H.; Roy K.; Bonnard C.; Ahl P.J.; Jones L.A.; Baker P.; Lacina L.; Otsuka A.; Fournie P.R.; Malecaze F.; Lane E.B.; Akiyama M.; Kabashima K.; Connolly J.E.; Masters S.L.; Soler V.J.; Omar S.S.; McGrath J.A.; Nedelcu R.; Gribaa M.; Denguezli M.; Saad A.; Hiller S.; Reversade B.;
Cited for: VARIANTS MSPC THR-54; VAL-66 AND 787-PHE--ARG-843 DEL; CHARACTERIZATION OF VARIANTS MSPC THR-54; VAL-66 AND 787-PHE--ARG-843 DEL; FUNCTION; TISSUE SPECIFICITY;
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.