UniProtKB/Swiss-Prot Q9Y320 : Variant p.Arg205Gln
Thioredoxin-related transmembrane protein 2
Gene: TMX2
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Variant information
Variant position:
205
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
LP/P [Disclaimer : Variants classification is intended for research purposes only, not for clinical and diagnostic use . The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant. ]
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 Glutamine (Q) at position 205 (R205Q, p.Arg205Gln).
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 medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
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:
In NEDMCMS; may affect splicing; decreased protein abundance; homozygous patient cells show decreased mitochondrial respiratory reserve capacity and compensatory increased glycolytic activity.
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
205
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:
NCTGLNFGKVDVGRYTDVST
R YKVSTSPLTKQLPTLILFQG
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.
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;
Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.
Ghosh S.G.; Wang L.; Breuss M.W.; Green J.D.; Stanley V.; Yang X.; Ross D.; Traynor B.J.; Alhashem A.M.; Azam M.; Selim L.; Bastaki L.; Elbastawisy H.I.; Temtamy S.; Zaki M.; Gleeson J.G.;
J. Med. Genet. 57:274-282(2020)
Cited for: VARIANT NEDMCMS GLN-205; CHARACTERIZATION OF VARIANT NEDMCMS GLN-205;
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.