Table 1.
Position | Amino acid change | SNP ID (if available) | Se bindingb | MTO activityb | Cu bindingb | Reference | Other missense changes/SNP ID (if different) |
---|---|---|---|---|---|---|---|
5d | Cys→Ser | ─ | ↓ | (↓) | ↑ | This work | |
8d | Cys→Ser | ─ | ↓ | (↓) | ↑ | This work | – |
57 | Cys→Ser | ─ | = | (↓) | (↑) | This work | – |
73 | His→Phe | ─ | n. d. c | ↓↓ | = | This work | – |
74 | His→Phe | ─ | n. d. c | ↓↓ | = | This work | – |
80 | Cys→Ser | rs1043849 | ↓ | (↑) | (↑) | This work | Cys→Arg rs762533745 |
83e | Cys→Ser | rs750650780 | = | (↑) | = | This work | Cys→Phe rs1180081309 |
137 | His→Phe | ─ | n. d. c | ↓↓ | ↓ | This work | His→Gln rs752623236 |
140 | His→Phe | ─ | n. d. c | ↓↓ | ↓ | This work | His→Arg |
His→Leu rs201591413 | |||||||
141 | Cys→Ser | rs371854240 | = | (↑) | = | This work | Cys→Tyr |
189 | Asp→Asn | – | n. d. c | ↓↓ | ↓ | This work | – |
225 | Gly→Trp | rs758495626 | n. d. | ↓↓ | n. d. | [7,9] | Gly→Arg |
252 | Glu→Gln | ─ | n. d. c | ↓↓ | ↓ | This work | Glu→Asp rs762922279 |
329 | His→Tyr | ─ | n. d. | ↓↓ | n. d. | [7,9] | His→Arg |
His→Leu rs765409789 |
Source: Genome Aggregation Database (gnomAD) browser, v. 2.1.1 (https://gnomad.broadinstitute.org/).
The symbols are: ↑ (increase by approx. 50% or more); (↑) (weak increase, less than 50%); = (no effect, less than 20% change); (↓) (weak decrease, less than 50%); ↓ (decrease by approx. 50% or more); ↓↓ (decrease by approx. 90% or more); n.d., not done.
TXRF measurements determine both Cu and Se content in parallel. Whereas Cu is present in freshly isolated SELENBP1 (see Fig. 2), Se is not (see Fig. 1). As no selenite loading of samples analyzed for changes in Cu content was performed, there was no Se detected in these samples – hence, the analysis of Se binding was “not done”.
As Cys5,8 double mutant.
As Cys80,83 double mutant.