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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q711Q0: Variant p.Gly1084Ala

Cardiac-enriched FHL2-interacting protein
Gene: CEFIP
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Variant information Variant position: help 1084
Type of variant: help LB/B
Residue change: help From Glycine (G) to Alanine (A) at position 1084 (G1084A, p.Gly1084Ala).
Physico-chemical properties: help Change from glycine (G) to small size and hydrophobic (A)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 1084
Protein sequence length: help 1435
Location on the sequence: help ESSACSPAASNIWEESSQAP G GPELLPEEPNQASPWASSSP
Residue conservation: help 
Human                         ESSACSPAASNIWEESSQAPGGPELLPEEPNQASPWASS---SP

Mouse                         ESSTCSPAASSIWEEASQA-AGEHWQRQEPPGPNPWASP--

Rat                           GSSTCSPAASSIWEDASQA-AGEHWQRQEPPGPGPWASPGP
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1435 Cardiac-enriched FHL2-interacting protein
Region 1007 – 1108 Disordered
Alternative sequence 720 – 1435 Missing. In isoform 3.



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.