Variant position: 389 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 466 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human DCLQQSRKVGDSPNITEYMF CAGYSDGSKDSCKGDSGGPHA
Chimpanzee DCLQQSRKVGDSPNITEYMF CAGYSDGSKDSCKGDSGGPHA
Mouse DCLEHAKHSSNTPKITENMF CAGYMDGTKDACKGDSGGPHA
Rat DCLEHAKHSANTPRITENMF CAGYMDGTKDACKGDSGGPHA
Bovine DCLQQSRQRPGGPVVTDNMF CAGYSDGSKDACKGDSGGPHA
Rabbit DCVEQSEHKPGSPEVTGNMF CAGYLDGSKDACKGDSGGPHA
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Two novel factor VII gene mutations in a Chinese family with factor VII deficiency.
Au W.Y.; Lam C.C.K.; Chan E.C.; Kwong Y.L.;
Br. J. Haematol. 111:143-145(2000)
Cited for: VARIANT FA7D GLY-389;
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;
Recurrent mutations and genotype-phenotype correlations in hereditary factor VII deficiency in Korea.
Kwon M.J.; Yoo K.Y.; Lee K.O.; Kim S.H.; Kim H.J.;
Blood Coagul. Fibrinolysis 22:102-105(2011)
Cited for: VARIANTS FA7D ARG-59 INS; VAL-314; SER-343 AND GLY-389;
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