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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00748: Variant p.Tyr605His

Coagulation factor XII
Gene: F12
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Variant information Variant position: help 605
Type of variant: help LB/B
Residue change: help From Tyrosine (Y) to Histidine (H) at position 605 (Y605H, p.Tyr605His).
Physico-chemical properties: help Change from large size and aromatic (Y) to medium size and polar (H)
BLOSUM score: help 2
Other resources: help


Sequence information Variant position: help 605
Protein sequence length: help 615
Location on the sequence: help SWGSGCGDRNKPGVYTDVAY Y LAWIREHTVS
Residue conservation: help 
Human                         SWGSGCGDRNKPGVYTDVAYYLAWIREHTVS

Mouse                         SWGSGCGDRNKPGVYTDVANYLAWIQKHIAS

Rat                           SWGSGCGDRNKPGVYTDVANYLDWIQEHTAF

Pig                           SWGSGCGDRLKPGVYTDVANYLAWIQEHTTS

Bovine                        SWGSGCGNRLKPGVYTDVANYLAWIREHTAS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 373 – 615 Coagulation factor XIIa light chain
Domain 373 – 614 Peptidase S1
Helix 602 – 605



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.