Hypercholesterolemia, Familial

Taxonomy

• Homo sapiens (Human)

Protein

• Apolipoprotein b-100 / Homo sapiens    P04114

Source

• Low-Density Lipoprotein Particle (GO_0034362)  

Reported structure

• N-Linked / Complex / NeuAc(a2-6)Gal(b1-?)GlcNAc(b1-?)Man(a1-?)[Gal(b1-?)GlcNAc(b1-?)Man(a1-?)]Man(b1-4)GlcNAc(b1-4)GlcNAc
• N-Linked / Complex / NeuAc(a2-3)Gal(b1-?)GlcNAc(b1-?)Man(a1-?)[Gal(b1-?)GlcNAc(b1-?)Man(a1-?)]Man(b1-4)GlcNAc(b1-4)GlcNAc
• N-Linked / High-Mannose / Man(a1-?)[Man(a1-?)]Man(a1-?)[Man(a1-?)Man(a1-?)]Man(b1-4)GlcNAc(b1-4)GlcNAc
• N-Linked / Complex / NeuAc(a2-3)Gal(b1-?)GlcNAc(b1-?)Man(a1-?)[NeuAc(a2-6)Gal(b1-?)GlcNAc(b1-?)Man(a1-?)]Man(b1-4)GlcNAc(b1-4)GlcNAc
• N-Linked / Complex / Gal(b1-?)GlcNAc(b1-?)Man(a1-6)[Gal(b1-?)GlcNAc(b1-?)Man(a1-3)]Man(b1-4)GlcNAc(b1-4)GlcNAc+"+ Gal(b1-?)GlcNAc(b1-?) + NeuAc(a2-3) + NeuAc(a2-6)"
• N-Linked / High-Mannose / Man(a1-?)[Man(a1-?)]Man(a1-?)[Man(a1-?)]Man(b1-4)GlcNAc(b1-4)GlcNAc
• N-Linked / High-Mannose / Man(a1-?)Man(a1-?)[Man(a1-?)Man(a1-?)]Man(a1-?)[Man(a1-?)Man(a1-?)Man(a1-?)]Man(b1-4)GlcNAc(b1-4)GlcNAc
• N-Linked / Complex / Gal(b1-?)GlcNAc(b1-?)Man(a1-3)[Gal(b1-?)GlcNAc(b1-?)Man(a1-6)]Man(b1-4)GlcNAc(b1-4)GlcNAc
• N-Linked / Complex / Gal(b1-?)GlcNAc(b1-?)Man(a1-?)[GlcNAc(b1-?)Man(a1-?)]Man(b1-4)GlcNAc(b1-4)GlcNAc
• N-Linked / Complex / NeuAc(a2-6)Gal(b1-?)GlcNAc(b1-?)Man(a1-?)[GlcNAc(b1-?)Man(a1-?)]Man(b1-4)GlcNAc(b1-4)GlcNAc
• N-Linked / Complex / NeuAc(a2-3)Gal(b1-?)GlcNAc(b1-?)Man(a1-3)[NeuAc(a2-3)Gal(b1-?)GlcNAc(b1-?)Man(a1-6)]Man(b1-4)GlcNAc(b1-4)GlcNAc
• N-Linked / Hybrid / Man(a1-?)[Man(a1-?)]Man(a1-?)[Gal(b1-?)GlcNAc(b1-?)Man(a1-?)]Man(b1-4)GlcNAc(b1-4)GlcNAc
• N-Linked / Complex / NeuAc(a2-6)Gal(b1-?)GlcNAc(b1-?)Man(a1-3)[NeuAc(a2-6)Gal(b1-?)GlcNAc(b1-?)Man(a1-6)]Man(b1-4)GlcNAc(b1-4)GlcNAc
• N-Linked / High-Mannose / Man(a1-?)[Man(a1-?)]Man(a1-?)[Man(a1-?)Man(a1-?)]Man(b1-4)GlcNAc(b1-4)GlcNAc+"+ Man(a1-?)"
• N-Linked / Hybrid / Man(a1-?)[Man(a1-?)]Man(a1-?)[GlcNAc(b1-?)Man(a1-?)]Man(b1-4)GlcNAc(b1-4)GlcNAc
• N-Linked / Hybrid / NeuAc(a2-6)Gal(b1-?)GlcNAc(b1-?)Man(a1-?)[Man(a1-?)Man(a1-?)]Man(b1-4)GlcNAc(b1-4)GlcNAc
• N-Linked / High-Mannose / Man(a1-?)[Man(a1-?)]Man(a1-?)[Man(a1-?)Man(a1-?)Man(a1-?)]Man(b1-4)GlcNAc(b1-4)GlcNAc+"+ Man(a1-?)"
• N-Linked / Complex / NeuAc(a2-?)Gal(b1-?)GlcNAc(b1-?)Man(a1-?)[GlcNAc(b1-?)Man(a1-?)]Man(b1-4)GlcNAc(b1-4)GlcNAc

Composition

• Hex:6 HexNAc:3 (avg mass : 1600.4547 )
• Hex:6 HexNAc:5 NeuAc:2 (avg mass : 2589.3605 )
• Hex:5 HexNAc:4 NeuAc:2 (avg mass : 2224.0231 )
• Hex:5 HexNAc:2 (avg mass : 1235.1173 )
• Hex:6 HexNAc:2 (avg mass : 1397.2597 )
• Hex:5 HexNAc:4 (avg mass : 1641.5073 )
• Hex:4 HexNAc:4 NeuAc:1 (avg mass : 1770.6228 )
• Hex:4 HexNAc:4 (avg mass : 1479.3649 )
• Hex:5 HexNAc:3 (avg mass : 1438.3123 )
• Hex:5 HexNAc:4 NeuAc:1 (avg mass : 1932.7652 )
• Hex:5 HexNAc:3 NeuAc:1 (avg mass : 1729.5702 )
• Hex:7 HexNAc:2 (avg mass : 1559.4021 )
• Hex:8 HexNAc:2 (avg mass : 1721.5445 )
• Hex:9 HexNAc:2 (avg mass : 1883.6869 )

Disease

• Hypercholesterolemia, Familial (DOID:13810)

Reported glycosite

• Apolipoprotein b-100 / Homo sapiens :
  •        Undefined site

Mass spectrometry validated peptide