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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15360: Variant p.Val1287Ile

Fanconi anemia group A protein
Gene: FANCA
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Variant information Variant position: help 1287
Type of variant: help LB/B
Residue change: help From Valine (V) to Isoleucine (I) at position 1287 (V1287I, p.Val1287Ile).
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 1287
Protein sequence length: help 1455
Location on the sequence: help GLLSSHLTSNSTTDLPKAFH V CAAILECLEKRKISWLALFQ
Residue conservation: help 
Human                         GLLSSHLTSNSTTDLPKAFHVCAAILECLEKRKISWLALFQ

Mouse                         GLLSSYLTQRDTAEHLKAVDICAEVLTCLERRKVSWLVLFQ
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1455 Fanconi anemia group A protein
Alternative sequence 298 – 1455 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.