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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P50851: Variant p.Ala2704Thr

Lipopolysaccharide-responsive and beige-like anchor protein
Gene: LRBA
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Variant information Variant position: help 2704
Type of variant: help LB/B
Residue change: help From Alanine (A) to Threonine (T) at position 2704 (A2704T, p.Ala2704Thr).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and polar (T)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 2704
Protein sequence length: help 2863
Location on the sequence: help SETAAPRAILTGHDYEVTCA A VCAELGLVLSGSQEGPCLIH
Residue conservation: help 
Human                         SETAAPRAILTGHDYEVTCAAVCAELGLVLSGSQEGPCLIH

Mouse                         GETATPRAILTGHDYEITCAAVCAELGLVLSGSQEGPCLIH
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 2863 Lipopolysaccharide-responsive and beige-like anchor protein
Repeat 2695 – 2735 WD 4
Alternative sequence 2684 – 2684 Missing. In 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.