Literature summary for 3.4.21.45 extracted from

Yuasa, I.; Nakagawa, M.; Umetsu, K.; Harihara, S.; Matsusue, A.; Nishimukai, H.; Fukumori, Y.; Saitou, N.; Park, K.S.; Jin, F.; Lucotte, G.; Chattopadhyay, P.K.; Henke, L.; Henke, J.
Molecular basis of complement factor I (CFI) polymorphism: one of two polymorphic suballeles responsible for CFI A is Japanese-specific (2008), J. Hum. Genet., 53, 1016-1021.

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Protein Variants

Protein Variants	Comment	Organism
R201S	present only in Far East populations with frequencies of about 0.03 in the main island of Japan and lower than 0.01 in Okinawa and Korea	Homo sapiens
R406H	present almost exclusively in East Asians and at highest frequencies in southern Chinese Han and Thais	Homo sapiens
R502L	must have arisen in a southeastern part of Asia and thereafter has spread to neighboring populations	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
serum	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
CFI	-	Homo sapiens

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Release 2023.1 (January 2023)