Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O76082: Variant p.Phe508Leu

Organic cation/carnitine transporter 2
Gene: SLC22A5
Feedback?
Variant information Variant position: help 508
Type of variant: help LB/B
Residue change: help From Phenylalanine (F) to Leucine (L) at position 508 (F508L, p.Phe508Leu).
Physico-chemical properties: help Change from large size and aromatic (F) to medium size and hydrophobic (L)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 508
Protein sequence length: help 557
Location on the sequence: help RFLPYILMGSLTILTAILTL F LPESFGTPLPDTIDQMLRVK
Residue conservation: help 
Human                         RFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLRVK

Mouse                         RFLPYILMGSLTILTAILTLFFPESFGVPLPDTIDQMLRVK

Rat                           RFLPYILMGSLTILTAILTLFFPESFGAPLPDTIDQMLRVK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 557 Organic cation/carnitine transporter 2
Transmembrane 489 – 509 Helical; Name=12



Literature citations
Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).
Urban T.J.; Gallagher R.C.; Brown C.; Castro R.A.; Lagpacan L.L.; Brett C.M.; Taylor T.R.; Carlson E.J.; Ferrin T.E.; Burchard E.G.; Packman S.; Giacomini K.M.;
Mol. Pharmacol. 70:1602-1611(2006)
Cited for: VARIANTS PHE-144; ILE-481; PHE-481; LEU-508; VAL-530 AND SER-549; VARIANTS CDSP LEU-17 AND ASP-449;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.