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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P41440: Variant p.Gly348Arg

Reduced folate transporter
Gene: SLC19A1
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Variant information Variant position: help 348 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 Glycine (G) to Arginine (R) at position 348 (G348R, p.Gly348Arg). 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 glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 IMD114; likely pathogenic; decreased function in positive regulation of cGAS/STING signaling pathway and altered activation of immune response; no effect on localization to the cell membrane. Any additional useful information about the variant.


Sequence information Variant position: help 348 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 591 The length of the canonical sequence.
Location on the sequence: help KIRWARWSKLLIAGVTATQA G LVFLLAHTRHPSSIWLCYAA 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                         KIRWARWSKLLIAGVTATQAGLVFLLAHTRHPSSIWLCYAA

Mouse                         SIRWTLWSKLVIAGVIAIQASLVFCMFQIR---DIWVCYVT

Rat                           NIRWALWSKLVIASVIAIQAGLVFCMFQIP---DIWVCYVT
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 1 – 591 Reduced folate transporter
Transmembrane 334 – 354 Helical; Name=9
Mutagenesis 328 – 328 K -> A. Reduces IRF3 phosphorylation upon cGAMP stimulation.
Helix 337 – 354



Literature citations
Novel immunodeficiency caused by homozygous mutation in solute carrier family 19 member 1, which encodes the reduced folate carrier.
Shiraishi A.; Uygun V.; Sharfe N.; Beldar S.; Sun M.G.F.; Dadi H.; Vong L.; Maxson M.; Karaca N.E.; Mevlitoglu S.; Grinstein S.; Artan R.; Merico D.; Roifman C.M.;
Blood 141:3226-3230(2023)
Cited for: VARIANT IMD114 ARG-348; CHARACTERIZATION OF VARIANT IMD114 ARG-348; INVOLVEMENT IN IMD114; SUBCELLULAR LOCATION; FUNCTION;
Immunodeficiency associated with a novel functionally defective variant of SLC19A1 benefits from folinic acid treatment.
Goek V.; Erdem S.; Haliloglu Y.; Bisgin A.; Belkaya S.; Basaran K.E.; Canatan M.F.; Oezcan A.; Yilmaz E.; Acipayam C.; Karakuekcue M.; Canatan H.; Per H.; Patiroglu T.; Eken A.; Uenal E.;
Genes Immun. 24:12-20(2023)
Cited for: VARIANT IMD114 ARG-348; INVOLVEMENT IN IMD114;
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.