Table 1. Mutations in the SBP2 gene.
| Family | SBP2 gene | Protein | Comments on putative defect | No of affected | Defect | Ref |
|---|---|---|---|---|---|---|
| 1 | c.1619 G>A | R540Q | hypomorphic allele | 3 | homozygous | (57) |
| 2 | c.1312 A>T | K438X | missing C terminus | 1 | compound heterozygous | (57) |
| IVS8ds+29 G>A | fs | abnormal splicing | ||||
| 3 | c.382 C>T | R128X | smaller isoforms* | 1 | homozygous | (58) |
| 4 | c.358 C>T | R120X | smaller isoforms* | 1 | compound heterozygous | (59) |
| c.2308 C>T | R770X | disrupted C-terminus | ||||
| 5 | c.668delT | F223 fs 255X | truncation and smaller isorforms* | 1 | compound heterozygous | (60) |
| intron 6 -155 delC | fs | abnormal splicing, missing C-terminus | ||||
| 6 | c.2071 T>C | C691R | increased proteasomal degradation | 1 | compound heterozygous | (60) |
| intronic SNP | fs | transcripts lacking exons 2-4, or 3-4 | ||||
| 7 | c.1529_1541dup CCAGCGCCCCACT | M515 fs 563X | missing C terminus | 1 | compound heterozygous | (61) |
| c.235 C>T | Q79X | smaller isoforms* | ||||
| 8 | c.2344 C>T | Q782X | missing C terminus | 1 | compound heterozygous | (65) |
| c.2045-2048 delAACA | K682 fs 683X | missing C terminus |
*
generated from downstream ATGs; fs – frame shift.
Modified from Dumitrescu AM and Refetoff S. Biochim Biophys Acta. 2012 Aug 16. [Epub ahead of print], with permission.