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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UPI3: Variant p.Thr430Arg

Choline/ethanolamine transporter FLVCR2
Gene: FLVCR2
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Variant information Variant position: help 430 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 Threonine (T) to Arginine (R) at position 430 (T430R, p.Thr430Arg). 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 medium size and polar (T) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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 PVHH; reduced choline transport without affecting localization to the plasma membrane. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 430 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 526 The length of the canonical sequence.
Location on the sequence: help TMGFFMTGYLPLGFEFAVEL T YPESEGISSGLLNISAQVFG 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                         TMGFFMTGYLPLGFEFAVELTYPESEGISSGLLNISAQVFG

Mouse                         TLGFFMTGYLPLGFEFAVELTYPESEGVSSGLLNVSAQVFG

Rat                           SLGFFMTGYLPLGFEFAVELTYPESEGVSSGLLNVSAQVFG
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 – 526 Choline/ethanolamine transporter FLVCR2
Topological domain 430 – 437 Cytoplasmic
Binding site 447 – 447
Mutagenesis 447 – 447 Q -> A. Reduced transport of choline and ethanolamine.
Helix 401 – 430



Literature citations
MFSD7c functions as a transporter of choline at the blood-brain barrier.
Nguyen X.T.A.; Le T.N.U.; Nguyen T.Q.; Thi Thuy Ha H.; Artati A.; Leong N.C.P.; Nguyen D.T.; Lim P.Y.; Susanto A.V.; Huang Q.; Fam L.; Leong L.N.; Bonne I.; Lee A.; Granadillo J.L.; Gooch C.; Yu D.; Huang H.; Soong T.W.; Chang M.W.; Wenk M.R.; Adamski J.; Cazenave-Gassiot A.; Nguyen L.N.;
Cell Res. 34:245-257(2024)
Cited for: FUNCTION; TRANSPORTER ACTIVITY; SUBCELLULAR LOCATION; VARIANTS PVHH TYR-203; SER-276; ARG-430; MET-430 AND ARG-483; CHARACTERIZATION OF VARIANTS PVHH TYR-203; SER-276; ARG-430; MET-430 AND ARG-483; Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).
Meyer E.; Ricketts C.; Morgan N.V.; Morris M.R.; Pasha S.; Tee L.J.; Rahman F.; Bazin A.; Bessieres B.; Dechelotte P.; Yacoubi M.T.; Al-Adnani M.; Marton T.; Tannahill D.; Trembath R.C.; Fallet-Bianco C.; Cox P.; Williams D.; Maher E.R.;
Am. J. Hum. Genet. 86:471-478(2010)
Cited for: VARIANTS PVHH ARG-280; VAL-398 AND ARG-430;
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.