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UniProtKB/Swiss-Prot Q8IV20: Variant p.Cys284Arg

Purine nucleoside phosphorylase LACC1
Gene: LACC1
Variant information

Variant position:  284
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Cysteine (C) to Arginine (R) at position 284 (C284R, p.Cys284Arg).
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 polar (C) to large size and basic (R)
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:  In JUVAR; reduced NOD2-induced signaling.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  284
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  430
The length of the canonical sequence.

Location on the sequence:   SYDGITTNQRGVTIAALGAD  C IPIVFADPVKKACGVAHAGW
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                         SYDGITTNQRGVTIAALGADCIPIVFADPVKKACGVAHAGW

Mouse                         SYDGIVTNQRGVTITALGADCIPIVFADPVKKACGVAHSGW

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.

TypePositionsDescription
Chain 1 – 430 Purine nucleoside phosphorylase LACC1
Metal binding 284 – 284 Zinc; catalytic
Metal binding 301 – 301 Zinc; catalytic
Mutagenesis 265 – 265 Y -> A. Does not affect ability to promote pattern recognition receptor (PRR)-induced cytokines in macrophages; when associated with A-52 and A-89.


Literature citations

Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis.
Wakil S.M.; Monies D.M.; Abouelhoda M.; Al-Tassan N.; Al-Dusery H.; Naim E.A.; Al-Younes B.; Shinwari J.; Al-Mohanna F.A.; Meyer B.F.; Al-Mayouf S.;
Arthritis Rheum. 67:288-295(2015)
Cited for: INVOLVEMENT IN JUVAR; VARIANT JUVAR ARG-284;

LACC1 required for NOD2-induced, ER stress-mediated innate immune outcomes in human macrophages and LACC1 risk variants modulate these outcomes.
Huang C.; Hedl M.; Ranjan K.; Abraham C.;
Cell Rep. 29:4525-4539(2019)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH ATF6; EIF2AK3 AND ERN1; CHARACTERIZATION OF VARIANT VAL-254; CHARACTERIZATION OF VARIANT JUVAR ARG-284;

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.