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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04114: Variant p.Arg1388His

Apolipoprotein B-100
Gene: APOB
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Variant information Variant position: help 1388
Type of variant: help LB/B
Residue change: help From Arginine (R) to Histidine (H) at position 1388 (R1388H, p.Arg1388His).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (H)
BLOSUM score: help 0
Polymorphism: help Genetic variations in APOB define the low density lipoprotein cholesterol level quantitative trait locus 4 (LDLCQ4) [MIM:615558].
Other resources: help


Sequence information Variant position: help 1388
Protein sequence length: help 4563
Location on the sequence: help NWSASYSGGNTSTDHFSLRA R YHMKADSVVDLLSYNVQGSG
Residue conservation: help
Human                         NWSASYSGGNTSTDHFSLRARYHMKADSVVDLLSYNVQGSG

Mouse                         NWSASYTGGNTSRDHFSLQAQYRMKTDSVVDLFSYSVQGSG

Rat                           NWSVSYTGGNTSRDHFSLQAQYRMKADSVVDLFSYSVQGSG

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 28 – 4563 Apolipoprotein B-100
Chain 28 – 2179 Apolipoprotein B-48
Glycosylation 1368 – 1368 N-linked (GlcNAc...) asparagine
Glycosylation 1377 – 1377 N-linked (GlcNAc...) asparagine



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.