UniProtKB/Swiss-Prot Q9HC29: Variant p.Arg391Cys

Nucleotide-binding oligomerization domain-containing protein 2
Gene: NOD2
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Variant information Variant position:

391 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 Arginine (R) to Cysteine (C) at position 391 (R391C, p.Arg391Cys). 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 large size and basic (R) to medium size and polar (C) 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
Other resources:

Links to websites of interest for the variant.

Variant rs104895481 [ dbSNP | Ensembl ]

Sequence information Variant position:

391 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1040 The length of the canonical sequence.
Location on the sequence:

PDRVLLTFDGFDEFKFRFTD R ERHCSPTDPTSVQTLLFNLL 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                         PDRVLLTFDGFDEFKFRFTDRERHCSPTDPTSVQTLLFNLL

Chimpanzee                    PDRVLLTFDGFDEFKFRFTDRERHCSPTDPTSVQTLLFNLL

Mouse                         PDRVLLTFDGLDEFKFRFTDRERHCSPIDPTSVQTLLFNLL

Bovine                        PERILLTFDGFDEFRFRFTDQERHCCPTAPTSVQSLLFNLL

Rabbit                        PDRILLTFDGFDEFKFKFTDHERHCSPTDPTSVQTLLFNLL

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 – 1040	Nucleotide-binding oligomerization domain-containing protein 2
Domain	293 – 618	NACHT
Lipidation	395 – 395	S-palmitoyl cysteine
Alternative sequence	225 – 1040	Missing. In isoform 3.
Mutagenesis	379 – 379	D -> A. No disruption in NOD2-CARD9 interaction. Decreased NF-kappa-B activation in response to muramyl dipeptide stimulation.
Mutagenesis	395 – 395	C -> S. Abolished palmitoylation and localization to the cell membrane; when associated with S-1033.
Mutagenesis	396 – 396	S -> Y. Abolished NF-kappa-B activation in response to muramyl dipeptide stimulation.
Mutagenesis	401 – 401	T -> IS. Abolished NF-kappa-B activation in response to muramyl dipeptide stimulation.
Mutagenesis	408 – 408	F -> L. Abolished NF-kappa-B activation in response to muramyl dipeptide stimulation.

Literature citations
Eight novel CARD15 variants detected by DNA sequence analysis of the CARD15 gene in 111 patients with inflammatory bowel disease.
Schnitzler F.; Brand S.; Staudinger T.; Pfennig S.; Hofbauer K.; Seiderer J.; Tillack C.; Goke B.; Ochsenkuhn T.; Lohse P.;
Immunogenetics 58:99-106(2006)
Cited for: VARIANTS IBD1 TRP-311; TRP-702; CYS-703; HIS-713; VAL-755; CYS-760; TRP-790 AND ARG-908; VARIANTS SER-268; SER-289; CYS-391; ALA-463; TRP-791; LYS-825 AND VAL-849;

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.