Table 3.
Benign TRPM1 Variants Identified in CSNB Patients
| Exon | Nucleotide Exchange | Protein Effect | SNP ID |
|---|---|---|---|
| 2 | c.2T>C | p.Met1Thr | rs4779816 |
| 3 | c.95G>A | p.Ser32Asn | rs2241493 |
| 11 | c.1239G>A | p.Thr413Thr | rs1035705 |
| 16 | c.1813G>A | p.Val605Met | rs17815774 |
| 18 | c.2307T>C | p.Tyr769Tyr | rs12913672 |
| c.2340T>C | p.Asn780Asn | rs2288242 | |
| 19 | c.2475C>T | p.Asn825Asn | rs12911350 |
| 27 | c.3686A>C | p.Asn1229Thr | rs17227996 |
| c.4135C>A | p.Pro1379Thr | rs61734298 | |
| c.4139G>A | p.Val1395Ile | rs3784588 | |
| c.4494T>A | p.His1483Gln | rs12898290 |
CSNB mutations are annotated according to the recommendation of the Human Genome Variation Society, with nucleotide position +1 corresponding to the A of the translation-initiation codon ATG in the cDNA nomenclature RefSeq NM_002420.4, 70+TRPM1.