| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common in clinvar
|
| (C;T)
|
3
|
Carrier of a Glut1 deficiency mutation
|
| (T;T)
|
9
|
Glut1 Deficiency (predicted)
|
rs267607059, also known as c.1402C>T, p.Arg468Trp and R468W, represents a rare variant in the SLC2A1 gene on chromosome 1.
Although SLC2A1 mutations are more commonly associated with dominantly inherited GLUT1 deficiency, rs267607059 has been found to be recessively inherited.
This is based on several studies, including one based on an index patient and her asymptomatic younger sister (who was apparently too young to show symptoms). The mutation was absent in 120 control alleles of healthy individuals as well as in 400 alleles of other GLUT1DS patients. Arg468 represents a highly conserved, functionally important amino acid residue in the GLUT1 carboxy-terminus essential for substrate recognition and transport. Both unaffected parents were heterozygous for the mutation. Patients heterozygous for other SLC2A1 mutations experience milder symptoms.[PMID 20221955], [PMID 20687207
]
]
