Variant position: 77 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 LVAQYGEQRAWDLALHTWEQ MGLRSLCAQAQEGAGHSPSFP
Zebrafish LNELIDH-------LNLFKV LG----------------DFS
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.
87 – 87 Q -> A. No effect on cleavage by HRV-14 Protease 3C.
63 – 77
Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis.
Soler V.J.; Tran-Viet K.N.; Galiacy S.D.; Limviphuvadh V.; Klemm T.P.; St Germain E.; Fournie P.R.; Guillaud C.; Maurer-Stroh S.; Hawthorne F.; Suarez C.; Kantelip B.; Afshari N.A.; Creveaux I.; Luo X.; Meng W.; Calvas P.; Cassagne M.; Arne J.L.; Rozen S.G.; Malecaze F.; Young T.L.;
J. Med. Genet. 50:246-254(2013)
Cited for: VARIANT MSPC THR-77; TISSUE SPECIFICITY;
Enteroviral 3C protease activates the human NLRP1 inflammasome in airway epithelia.
Robinson K.S.; Teo D.E.T.; Tan K.S.; Toh G.A.; Ong H.H.; Lim C.K.; Lay K.; Au B.V.; Lew T.S.; Chu J.J.H.; Chow V.T.K.; Wang Y.; Zhong F.L.; Reversade B.;
Cited for: CHARACTERIZATION OF VARIANT MSPC THR-77; FUNCTION; ACTIVITY REGULATION; PROTEOLYTIC CLEAVAGE (MICROBIAL INFECTION); UBIQUITINATION; MUTAGENESIS OF GLN-76; GLN-85; GLN-87; GLN-110; GLN-130; GLN-139; GLN-158; GLN-171; GLN-191; GLN-199; GLN-205 AND PHE-1212;
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.