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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14674: Variant p.Ile1136Val

Separin
Gene: ESPL1
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Variant information Variant position: help 1136
Type of variant: help LB/B
Residue change: help From Isoleucine (I) to Valine (V) at position 1136 (I1136V, p.Ile1136Val).
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 1136
Protein sequence length: help 2120
Location on the sequence: help PGPIAPSTNSSPVLKTKPQP I PNFLSHSPTCDCSLCASPVL
Residue conservation: help 
Human                         PGPIAPSTNSSPVLKTKPQPIPNFLSHSPTCDCSLCASPVL

Mouse                         PGPIQSSVNSSPVLKTKPPPNPGFLSHLPSCDCLLCASPAL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2120 Separin
Modified residue 1126 – 1126 Phosphoserine
Mutagenesis 1126 – 1126 S -> A. Abolishes phosphorylation at this site, as well as the negative regulation due to phosphorylation.



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.