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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P48029: Variant p.Lys4Arg

Sodium- and chloride-dependent creatine transporter 1
Gene: SLC6A8
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Variant information Variant position: help 4
Type of variant: help LB/B
Residue change: help From Lysine (K) to Arginine (R) at position 4 (K4R, p.Lys4Arg).
Physico-chemical properties: help Similar physico-chemical property. Both residues are large size and basic.
BLOSUM score: help 2
Variant description: help No effect on creatine transporter activity.
Other resources: help


Sequence information Variant position: help 4
Protein sequence length: help 635
Location on the sequence: help MAK K SAENGIYSVSGDEKKGPLIA
Residue conservation: help 
Human                         MAKKSAENGIYSVSGDEKKGPLIA

Mouse                         MAKKSAENGIYSVSGDEKKGPLIV

Rat                           MAKKSAENGIYSVSGDEKKGPLIV

Bovine                        MANKSTENGIYSVSGEEKKGPLIA

Rabbit                        MAKKSAENGIYSVSGDEKKGPLIA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 635 Sodium- and chloride-dependent creatine transporter 1
Topological domain 1 – 60 Cytoplasmic
Region 1 – 28 Disordered
Alternative sequence 1 – 365 Missing. In isoform 3.
Alternative sequence 1 – 259 MAKKSAENGIYSVSGDEKKGPLIAPGPDGAPAKGDGPVGLGTPGGRLAVPPRETWTRQMDFIMSCVGFAVGLGNVWRFPYLCYKNGGGVFLIPYVLIALVGGIPIFFLEISLGQFMKAGSINVWNICPLFKGLGYASMVIVFYCNTYYIMVLAWGFYYLVKSFTTTLPWATCGHTWNTPDCVEIFRHEDCANASLANLTCDQLADRRSPVIEFWENKVLRLSGGLEVPGALNWEVTLCLLACWVLVYFCVWKGVKSTGK -> MLPTLQIQGPAAFAPGDRGPGRHCPFPVPITPTGALLPVSDSCDSLVDLVWPSVTYLALGTQSRVWPHPLGAPGQAGESPEQRRQCLELWDMASSLGDKVPRAACGKRGQTVWQLHLACLCLAQFHSPPAQPPPLSRRGGGPDPDPISRSLPGPPTPALPTHSYSSHSPRAPRLLSPLRRAPRGSPAPHRHASLQTNEAPRELPHCTWPGLPGRSLAPSFLWREPWLGGQWGPLNIPARKGDRRRWEWGCEGGGATASAEQPGPQ. In isoform 2.
Alternative sequence 1 – 115 Missing. In isoform 4.



Literature citations
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
Rosenberg E.H.; Martinez Munoz C.; Betsalel O.T.; van Dooren S.J.; Fernandez M.; Jakobs C.; deGrauw T.J.; Kleefstra T.; Schwartz C.E.; Salomons G.S.;
Hum. Mutat. 28:890-896(2007)
Cited for: VARIANTS CCDS1 ARG-87; PHE-107 DEL; ASN-336 DEL; TRP-337; ILE-347 DEL; LEU-390; TRP-391 AND LEU-554; VARIANTS ARG-4; ARG-26; VAL-560 AND ILE-629; CHARACTERIZATION OF VARIANTS CCDS1 ARG-87; PHE-107 DEL; ASN-336 DEL; TRP-337; ILE-347 DEL; LEU-390 AND TRP-391; CHARACTERIZATION OF VARIANTS ARG-4; ARG-26; VAL-560 AND ILE-629; FUNCTION; TRANSPORTER ACTIVITY;
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.