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UniProtKB/Swiss-Prot Q9Y320: Variant p.Arg231Trp

Thioredoxin-related transmembrane protein 2
Gene: TMX2
Variant information

Variant position:  231
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 Arginine (R) to Tryptophan (W) at position 231 (R231W, p.Arg231Trp).
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 large size and aromatic (W)
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 NEDMCMS; increased homodimerization; even in absence of oxidative stress.
Any additional useful information about the variant.

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



Sequence information

Variant position:  231
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  296
The length of the canonical sequence.

Location on the sequence:   SPLTKQLPTLILFQGGKEAM  R RPQIDKKGRAVSWTFSEENV
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.

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 49 – 296 Thioredoxin-related transmembrane protein 2
Topological domain 126 – 296 Cytoplasmic
Domain 114 – 269 Thioredoxin
Modified residue 211 – 211 Phosphoserine
Modified residue 243 – 243 Phosphoserine
Beta strand 217 – 233


Literature citations

TMX2 is a crucial regulator of cellular redox state, and its dysfunction causes severe brain developmental abnormalities.
Vandervore L.V.; Schot R.; Milanese C.; Smits D.J.; Kasteleijn E.; Fry A.E.; Pilz D.T.; Brock S.; Boerklue-Yuecel E.; Post M.; Bahi-Buisson N.; Sanchez-Soler M.J.; van Slegtenhorst M.; Keren B.; Afenjar A.; Coury S.A.; Tan W.H.; Oegema R.; de Vries L.S.; Fawcett K.A.; Nikkels P.G.J.; Bertoli-Avella A.; Al Hashem A.; Alwabel A.A.; Tlili-Graiess K.; Efthymiou S.; Zafar F.; Rana N.; Bibi F.; Houlden H.; Maroofian R.; Person R.E.; Crunk A.; Savatt J.M.; Turner L.; Doosti M.; Karimiani E.G.; Saadi N.W.; Akhondian J.; Lequin M.H.; Kayserili H.; van der Spek P.J.; Jansen A.C.; Kros J.M.; Verdijk R.M.; Milosevic N.J.; Fornerod M.; Mastroberardino P.G.; Mancini G.M.S.;
Am. J. Hum. Genet. 105:1126-1147(2019)
Cited for: INVOLVEMENT IN NEDMCMS; VARIANTS NEDMCMS CYS-53; ALA-55; ARG-56; HIS-62; GLY-109; VAL-117; THR-178; GLN-205; TRP-231 AND 253-ARG--LYS-296 DEL; CHARACTERIZATION OF VARIANTS NEDMCMS CYS-53; ALA-55; GLN-205; TRP-231 AND 253-ARG--LYS-296 DEL; FUNCTION; SUBUNIT; SUBCELLULAR LOCATION; INTERACTION WITH CANX AND ATP2A2; MUTAGENESIS OF CYS-170;

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.