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1 protein found in SwissVar (48 variants)

with gene/protein name P11166

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
P11166 GTR1_HUMAN glut1 deficiency syndrome 1 p.Asn34Tyr
p.Asn34Ser
p.Ser66Phe
p.Gly91Asp
p.Met96Val
p.Arg126Leu
p.Arg126Cys
p.Arg126His
p.Gly130Ser
p.Glu146Lys
p.Arg153Cys
p.Ala155Val
p.Arg212His
p.Arg212Cys
p.Arg223Trp
p.Lys256Glu
p.Thr295Met
p.Thr310Ile
p.Glu329Gln
p.Arg333Trp
p.Arg333Gln
p.Gly382Asp
p.Ala405Asp
p.Arg468Trp
p.Pro485Leu

























P11166 GTR1_HUMAN glut1 deficiency syndrome 2 p.Asn34Ile
p.Arg92Trp
p.Arg93Trp
p.Ser95Ile
p.Arg126Cys
p.Arg153His
p.Val165Ile
p.Ala275Thr
p.Ser294Pro
p.Gly314Ser
p.Asn317Thr
p.Ser324Leu
p.Arg333Gln













P11166 GTR1_HUMAN epilepsy, idiopathic generalized 12 p.Arg51His
p.Thr60Met
p.Met77Thr
p.Pro149Ala
p.Arg218Ser
p.Arg223Pro
p.Arg223Gln
p.Arg232Cys
p.Glu243Val
p.Asn411Ser
p.Arg458Trp











P11166 GTR1_HUMAN dystonia 9 p.Arg126Cys
p.Arg212Cys


P11166 GTR1_HUMAN stomatin-deficient cryohydrocytosis with neurologic defects p.Gly286Asp