Molecular Medicine

Table 1 Exons, Introns, and Mutations in the Human CD36 Gene

From: Molecular Basis of Human CD36 Gene Mutations

Exon number	Next intron length	mRNA nucleotides^a	Amino acids encoded	Change in nucleotide sequence^b	Change in amino acid sequence	Ref.
1	7341 (43708)^c	−289 to −184 (−356 to −184)^c	None
2	470	−183 to −90	None	del exons 1–3	no expression of CD36 protein	59
3	9679	−89 to +120	1–40
4	4362	121–281	41–94	C268T	Pro90Ser	48
5	1779	282–429	94–143	319–324delGCTGAG	inframe del AA 107–108	55
				329–330del AC	frameshift at AA 110	55
				G367A	Glul23Lys	49
				C380T	Ser127Leu	50
				T411C	Ala137Val	51
6	1236	430–609	144–203	560insT	frameshift at AA 187	56
7	1945	610–701	204–234	619–624del ACTGCA/ins AAAAC	frameshift at AA 207	57
				691–696del AAAGGT	inframe del AA 231–232	53
8	3463	702–748	234–250
9	954	749–818	250–273	T760C	Phe254Leu	52
10	757	819–1006	273–336	845–849del ACGTT	frameshift at AA 282	53
				949insA	frameshift at AA 317	58
				T975G	Tyr325Term	53
11	729	1007–1125	336–375	T1079G	Leu360Term	54
12	511	1126–1199	376–400	Del tttagAT	skipping exon 12	56
				1140–1146delTTTACAA/insCCAAA	frameshift at AA 380	53
				G1150C+ 1155delA	Ala384Pro + frameshift at AA 385	53
13	573	1200–1254	400–418	del taffacagAG	skipping exon 13	56
				dupl. 1204–1246	frameshift at AA 416	56
				1218–1224delGAGGAAC	frameshift at AA 406	57
				1228–1239delATTGTGCCTATT	deletion of lle-Val-Pro-lle	56,57
				A1237C	lle413Leu	52
14	2236^d	1255–1688 (1255–1419)^d	419–472
15^d	—	1420–2044^d	None

^aGenbank NM 000072; the first mRNA nucleotide encoding CD36 protein is +1
^bLowercase nucleotides are located in an intron.
^cAlternatively spliced exon 1 (Genbank NM 001001547).
^dAt position 1709 within exon 14, there is an internal splicing donor site that can join nucleotide 1419 to the first nucleotide of exon 15, thus generating an alternative CD36 mRNA form (Genbank NM 001001548) containing exon 15 (3).

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ISSN: 1528-3658

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