OPN1MW
opsin 1, medium wave sensitive
Summary
This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness. [provided by RefSeq, Mar 2009]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs724159983 | X:153,448,055 | A/C | — | pathogenic |
| rs1223726997 | X:153,453,340 | T/C | — | likely benign |
| rs1557159078 | X:153,453,406 | C/T | — | uncertain significance |
| rs2522592607 | X:153,453,421 | T/C | — | uncertain significance |
| rs104894915 | X:153,453,428 | C/A | missense variant | pathogenic |
| rs781807082 | X:153,453,453 | A/G | — | likely benign |
| rs200470120 | X:153,453,477 | G/A | — | likely benign |
| rs782658018 | X:153,453,478 | T/C | — | uncertain significance |
| rs201569525 | X:153,453,493 | A/C | — | likely benign |
| rs1557159313 | X:153,455,590 | A/C | — | likely benign |
| rs368356511 | X:153,455,598 | C/G | — | benign |
| rs372044027 | X:153,455,654 | C/T | — | likely benign |
| rs267606927 | X:153,455,662 | T/C | missense variant | pathogenic |
| rs375538821 | X:153,455,665 | A/G | — | likely benign |
| rs949431 | X:153,455,671 | G/T | — | benign |
| rs2067116201 | X:153,458,977 | C/G | — | uncertain significance |
| rs782251342 | X:153,458,989 | T/G | — | likely benign |
| rs782007587 | X:153,459,112 | G/A | — | likely benign |
| rs104894916 | X:153,461,425 | G/A | missense variant | pathogenic |
| rs1557159695 | X:153,461,449 | G/T | — | uncertain significance |
| rs202048965 | X:153,461,494 | C/T | — | uncertain significance |
| rs781792327 | X:153,461,739 | C/T | — | — |
| rs104894914 | X:154,191,716 | T/C | missense variant | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.