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- NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_assertion type Assertion NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_head.
- NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_assertion wasGeneratedBy ECO_0000218 NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_provenance.
- NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_assertion wasDerivedFrom uniprot-20130724 NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_provenance.
- NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_assertion SIO_000772 16098014 NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_provenance.
- NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_assertion evidence source_evidence_curated NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_provenance.
- NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_assertion description "[The novel NPC1 mutations include 14 amino acid substitutions [R372W (c.1114C>T), P434L (c.1301C>T), C479Y (c.1436G>A), K576R (c.1727G>A), V727F (c.2179G>T), M754K (c.2261T>A), S865L (c.2594C>T), A926T (c.2776G>A), D948H (c.2842G>C), V959E (c.2876T>A), T1036K (c.3107C>A), T1066N (c.3197C>A), N1156I (c.3467A>T) and F1224L (c.3672C>G)], four stop codon [W260X (c.780G>A), S425X (c.1274C>A), C645X (c.1935T>A) and R1059X (c.3175C>T)], two donor splice-site mutations [IVS7+1G>A (g.31432G>A) and IVS21+2insG (g.51871insG)], one in-frame mutation [N961_F966delinsS (c.2882del16bpins1bp)] and five frameshift mutations [V299fsX8 (c.895insT), A558fsX11 (c.1673insG), C778fsX10 (c.2334insT), G993fsX3 (c.2973_78delG) and F1221fsX20 (c.3662delT)].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_provenance.