UniProtKB/Swiss-Prot Q9C000: Variant p.Leu155His

NACHT, LRR and PYD domains-containing protein 1
Gene: NLRP1
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Variant information Variant position:

155 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Leucine (L) to Histidine (H) at position 155 (L155H, p.Leu155His). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from medium size and hydrophobic (L) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Variant description:

Risk factor for VAMAS1. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs12150220 [ dbSNP | Ensembl ]

Sequence information Variant position:

155 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:

RVLRQLPDTSGRRWREISAS L LYQALPSSPDHESPSQESPN 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                         RVLRQLPDTSGRRWREISASLLYQALPSSPDHESPSQESPN

Zebrafish                     KYVERVSGFSHYGFGE-------------------------

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
Chain	1 – 1473	NACHT, LRR and PYD domains-containing protein 1
Chain	1 – 1212	NACHT, LRR and PYD domains-containing protein 1, N-terminus
Modified residue	163 – 163	Phosphoserine; by MAPK14
Modified residue	168 – 168	Phosphoserine; by MAPK11 and MAPk14
Modified residue	170 – 170	Phosphoserine; by MAPK11 and MAPK14
Modified residue	173 – 173	Phosphoserine; by MAPK11
Mutagenesis	139 – 139	Q -> A. No effect on cleavage by HRV-14 Protease 3C.
Mutagenesis	158 – 158	Q -> A. No effect on cleavage by HRV-14 Protease 3C.
Mutagenesis	171 – 171	Q -> A. No effect on cleavage by HRV-14 Protease 3C.

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; NALP1 in vitiligo-associated multiple autoimmune disease.
Jin Y.; Mailloux C.M.; Gowan K.; Riccardi S.L.; LaBerge G.; Bennett D.C.; Fain P.R.; Spritz R.A.;
N. Engl. J. Med. 356:1216-1225(2007)
Cited for: INVOLVEMENT IN VAMAS1; VARIANT HIS-155;

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.