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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00748: Variant p.Gly545Asp

Coagulation factor XII
Gene: F12
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Variant information Variant position: help 545
Type of variant: help LB/B
Residue change: help From Glycine (G) to Aspartate (D) at position 545 (G545D, p.Gly545Asp).
Physico-chemical properties: help Change from glycine (G) to medium size and acidic (D)
BLOSUM score: help -1
Other resources: help


Sequence information Variant position: help 545
Protein sequence length: help 615
Location on the sequence: help PFLSLERCSAPDVHGSSILP G MLCAGFLEGGTDACQGDSGG
Residue conservation: help 
Human                         PFLSLERCSAPDVHGSSILPGMLCAGFLEGGTDACQGDSGG

Mouse                         PFIALDRCSNSNVHGDAILPGMLCAGFLEGGTDACQGDSGG

Rat                           PFISLDRCSSSNVHGDAILPGMLCAGFLEGGADACQGDSGG

Pig                           PLISPERCSAADVHGAAFTPGMLCAGFLEGGTDACQGDSGG

Bovine                        PLIDPQRCSAPDVHGAAFTQGMLCAGFLEGGTDACQGDSGG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 373 – 615 Coagulation factor XIIa light chain
Domain 373 – 614 Peptidase S1
Active site 563 – 563 Charge relay system
Disulfide bond 500 – 569
Disulfide bond 532 – 548



Literature citations
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS PRO-207; ASP-545 AND HIS-605;
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.