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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08709: Variant p.Leu73Gln

Coagulation factor VII
Gene: F7
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Variant information Variant position: help 73
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Glutamine (Q) at position 73 (L73Q, p.Leu73Gln).
Physico-chemical properties: help Change from medium size and hydrophobic (L) to medium size and polar (Q)
BLOSUM score: help -2
Variant description: help In FA7D.
Other resources: help


Sequence information Variant position: help 73
Protein sequence length: help 466
Location on the sequence: help GVLHRRRRANAFLEELRPGS L ERECKEEQCSFEEAREIFKD
Residue conservation: help 
Human                         GVLHRRRRANAFLEELRPGSLERECKEEQCSFEEAREIFKD

Chimpanzee                    GVLHRRRRANAFLEELRPGSLERECKEEQCSFEEAREIFKD

Mouse                         GVLHRQRRANSLLEELWPGSLERECNEEQCSFEEAREIFKS

Rat                           GVLHRQRRANSLLEELWSSSLERECNEERCSFEEAREIFKS

Bovine                        SILHRPRRANGFLEELLPGSLERECREELCSFEEAHEIFRN

Rabbit                        SVLRRQRRANSFLEELRPGSLERECKEELCSFEEAREVFQS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 61 – 212 Factor VII light chain
Domain 61 – 105 Gla
Modified residue 66 – 66 4-carboxyglutamate
Modified residue 67 – 67 4-carboxyglutamate
Modified residue 74 – 74 4-carboxyglutamate
Modified residue 76 – 76 4-carboxyglutamate
Modified residue 79 – 79 4-carboxyglutamate
Modified residue 80 – 80 4-carboxyglutamate
Modified residue 85 – 85 4-carboxyglutamate
Modified residue 86 – 86 4-carboxyglutamate
Modified residue 89 – 89 4-carboxyglutamate
Helix 73 – 77



Literature citations
Molecular analysis of the genotype-phenotype relationship in factor VII deficiency.
Millar D.S.; Kemball-Cook G.; McVey J.H.; Tuddenham E.G.D.; Mumford A.D.; Attock G.B.; Reverter J.C.; Lanir N.; Parapia L.A.; Reynaud J.; Meili E.; von Felton A.; Martinowitz U.; Prangnell D.R.; Krawczak M.; Cooper D.N.;
Hum. Genet. 107:327-342(2000)
Cited for: VARIANTS FA7D GLN-73; GLN-79; PHE-121; PRO-125; CYS-128; TRP-139; SER-151; VAL-157; ARG-160; ARG-195; ASN-241; HIS-302; ASN-302; THR-304; VAL-304; CYS-307; MET-332; VAL-354; ILE-358; PHE-370; GLY-389; SER-391 AND GLU-435; Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene.
Herrmann F.H.; Wulff K.; Auerswald G.; Schulman S.; Astermark J.; Batorova A.; Kreuz W.; Pollmann H.; Ruiz-Saez A.; De Bosch N.; Salazar-Sanchez L.;
Haemophilia 15:267-280(2009)
Cited for: VARIANTS FA7D LEU-64; GLN-73; PHE-82; PHE-84 DEL; GLY-88; PRO-88; PRO-120; CYS-128; ASP-138; GLN-139; LYS-154; SER-156; SER-157; ARG-160; PHE-171; PRO-181; ASN-183; PHE-186; SER-189; LEU-194; THR-194; ARG-195; GLN-212; ASP-216; ASN-241; THR-251; ARG-254; TYR-254; PRO-264; THR-266; ASN-272; ASN-277; TRP-283; ILE-298; GLN-301; ASN-302; HIS-302; THR-304; VAL-304; CYS-307; HIS-307; MET-312; PHE-321; LYS-325; GLN-326; CYS-337; PHE-341; SER-343; SER-345; CYS-350; VAL-354; ILE-358; PRO-360; ARG-363; HIS-363; GLN-364; TRP-364; PHE-370; TRP-375; MET-384; THR-387; VAL-387; SER-388; CYS-391; SER-391; GLU-401; HIS-403; ASN-404; GLY-413; MET-419; PHE-422; ALA-425; CYS-425; THR-429; ASP-432; GLU-435 AND PHE-437;
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.