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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BYH1: Variant p.Pro52Leu

Seizure 6-like protein
Gene: SEZ6L
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Variant information Variant position: help 52
Type of variant: help LB/B
Residue change: help From Proline (P) to Leucine (L) at position 52 (P52L, p.Pro52Leu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Other resources: help


Sequence information Variant position: help 52
Protein sequence length: help 1024
Location on the sequence: help DALPEGDASPLGPYLLPSGA P ERGSPGKEHPEERVVTAPPS
Residue conservation: help 
Human                         DALPEGDASPLGPYLLPSGAPERGSPGKEHPEERVVTAPPS

Mouse                         DGGPEGEMHPSTAYLLPSASLE------SSLEEGVTSAAPG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 29 – 1024 Seizure 6-like protein
Topological domain 29 – 958 Extracellular
Region 33 – 77 Disordered
Glycosylation 49 – 49 O-linked (GalNAc...) serine
Alternative sequence 1 – 227 Missing. In isoform 1 and isoform 2.



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.