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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00748: Variant p.Gly589Arg

Coagulation factor XII
Gene: F12
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Variant information Variant position: help 589
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Arginine (R) at position 589 (G589R, p.Gly589Arg).
Physico-chemical properties: help Change from glycine (G) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In FA12D; CRM-positive phenotype.
Other resources: help


Sequence information Variant position: help 589
Protein sequence length: help 615
Location on the sequence: help CEDQAAERRLTLQGIISWGS G CGDRNKPGVYTDVAYYLAWI
Residue conservation: help 
Human                         CEDQAAERRLTLQGIISWGSGCGDRNKPGVYTDVAYYLAWI

Mouse                         CEEGTAEHQLTLRGVISWGSGCGDRNKPGVYTDVANYLAWI

Rat                           CDEGVTERQLTLRGVISWGSGCGDRNKPGVYTDVANYLDWI

Pig                           CEDETAERQLVLRGIVSWGSGCGDRLKPGVYTDVANYLAWI

Bovine                        CEDETPERQLILRGIVSWGSGCGNRLKPGVYTDVANYLAWI
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 373 – 615 Coagulation factor XIIa light chain
Domain 373 – 614 Peptidase S1
Disulfide bond 559 – 590
Beta strand 588 – 591



Literature citations
The novel acceptor splice site mutation 11396(G-->A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients.
Schloesser M.; Hofferbert S.; Bartz U.; Lutze G.; Lammle B.; Engel W.;
Hum. Mol. Genet. 4:1235-1237(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 561-615; VARIANT FA12D ARG-589; Mutations in the human factor XII gene.
Schloesser M.; Zeerleder S.; Lutze G.; Halbmayer W.-M.; Hofferbert S.; Hinney B.; Koestering H.; Laemmle B.; Pindur G.; Thies K.; Koehler M.; Engel W.;
Blood 90:3967-3977(1997)
Cited for: VARIANTS FA12D MET-414; GLN-417; ASN-461 AND ARG-589;
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.