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Description of the mutations of CBL (NM_005188) Mutants

Keys for Mutation Description

A.A. substitution
Truncation
NT deletion
NT insertion

R280G: Arg at aa-position 280 mutated to Gly
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted

SKU	Mutation Description	Affected Codon#	Affected NT#	Description	Effect
RC400471	Q367P	367	c.1100	A>C	Missense
RC400472	Y371S	371	c.1112	A>C	Missense
RC400473	L380P	380	c.1139	T>C	Missense
RC400474	I383M	383	c.1149	A>T	Missense
RC400475	C384Y	384	c.1151	G>A	Missense
RC400476	C384R	384	c.1150	T>C	Missense
RC400477	D388G	388	c.1163	A>G	Missense
RC400478	D390V	390	c.1169	A>T	Missense
RC400479	C396Y	396	c.1187	G>A	Missense
RC400480	G397V	397	c.1190	G>T	Missense
RC400481	H398D	398	c.1192	C>G	Missense
RC400482	C401Y	401	c.1202	G>A	Missense
RC400483	W408C	408	c.1224	G>C	Missense
RC400484	C416R	416	c.1246	T>C	Missense
RC400485	C416S	416	c.1247	G>C	Missense
RC400486	C416Y	416	c.1247	G>A	Missense
RC400487	G415S	415	c.1243	G>A	Missense
RC400488	P417H	417	c.1250	C>A	Missense
RC400489	C419Y	419	c.1256	G>A	Missense
RC400490	R420L	420	c.1259	G>T	Missense
RC400491	R420Q	420	c.1259	G>A	Missense
RC400492	I423N	423	c.1268	T>A	Missense
RC400493	I429F	429	c.1285	A>T	Missense
RC400494	I429N	429	c.1286	T>A	Missense

Over 1000 citations of OriGene cDNA clones

Description of the mutations of CBL (NM_005188) Mutants