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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q86X76: Variant p.Arg243Trp

Deaminated glutathione amidase
Gene: NIT1
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Variant information Variant position: help 243 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Tryptophan (W) at position 243 (R243W, p.Arg243Trp). 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: help Change from large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In BSVD4; likely pathogenic; loss of protein abundance in homozygous patient cells; decreased function in metabolite repair. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 243 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 327 The length of the canonical sequence.
Location on the sequence: help LTYPSAFGSITGPAHWEVLL R ARAIETQCYVVAAAQCGRHH 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LTYPSAFGSITGPAHWEVLLRARAIETQCYVVAAAQCGRHH

Mouse                         LTYPSAFGSVTGPAHWEVLLRARAIESQCYVIAAAQCGRHH

Rat                           LTYPSAFGSVTGPAHWEVLLRARAIESQCYVIAAAQCGRHH

Bovine                        LTYPSAFGSVTGPAHWEVLLRARAIETQCYVVAAAQCGRHH

Slime mold                    LLVPSAFMKSTGEAHWKPLLQARAIENQTYVIAAAQTGDHH

Baker's yeast                 WCAPT--------------VDARPI----------------
Sequence annotation in neighborhood: help 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 14 – 327 Deaminated glutathione amidase
Domain 46 – 298 CN hydrolase
Alternative sequence 240 – 243 VLLR -> PVSS. In isoform 6.



Literature citations
Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage.
Rutten J.W.; Cerfontaine M.N.; Dijkstra K.L.; Mulder A.A.; Vreijling J.; Kruit M.; Koning R.I.; de Bot S.T.; van Nieuwenhuizen K.M.; Baelde H.J.; Berendse H.W.; Mei L.H.; Ruijter G.J.G.; Baas F.; Jost C.R.; van Duinen S.G.; Nibbeling E.A.R.; Gravesteijn G.; Lesnik Oberstein S.A.J.;
Genet. Med. 26:101105-101105(2024)
Cited for: VARIANT BSVD4 TRP-243; CHARACTERIZATION OF VARIANT BSVD4 TRP-243; FUNCTION;
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.