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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8IUH8: Variant p.Arg461Pro

Signal peptide peptidase-like 2C
Gene: SPPL2C
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Variant information Variant position: help 461
Type of variant: help LB/B
Residue change: help From Arginine (R) to Proline (P) at position 461 (R461P, p.Arg461Pro).
Physico-chemical properties: help Change from large size and basic (R) to medium size and hydrophobic (P)
BLOSUM score: help -2
Other resources: help


Sequence information Variant position: help 461
Protein sequence length: help 684
Location on the sequence: help FSILGFGDIVVPGFLVAYCC R FDVQVCSRQIYFVACTVAYA
Residue conservation: help 
Human                         FSILGFGDIVVPGFLVAYCCRFDVQVCSRQIYFVACTVAYA

Mouse                         FSILGFGDIVVPGFLVAYCHRFDMQVQSRQVYYMACTVAYA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 22 – 684 Signal peptide peptidase-like 2C
Topological domain 461 – 472 Cytoplasmic
Active site 448 – 448
Mutagenesis 448 – 448 D -> A. Loss of aspartyl protease activity.



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.