Sequence information
Variant position: 509 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 622 The length of the canonical sequence.
Location on the sequence:
AASLLQAGYKGRVTGWGNLK
E TWTANVGKGQPSVLQVVNLP
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 AASLLQAGYKGRVTGWGNLKE TWTANVGKGQPSVLQVVNLP
Mouse VTSLLRAGYKGRVTGWGNLRE TWTTNINEIQPSVLQVVNLP
Rat VTSLLQAGYKGRVTGWGNLRE TWTTNINEIQPSVLQVVNLP
Pig ATKLLRAGYKGRVTGWGNLKE TWTTSASEVQPSVLQVVNLP
Bovine AAKLLHAGFKGRVTGWGNRRE TWTTSVAEVQPSVLQVVNLP
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.
Literature citations
Prothrombin Salakta: substitution of glutamic acid-466 by alanine reduces the fibrinogen clotting activity and the esterase activity.
Miyata T.; Aruga R.; Umeyama H.; Bezeaud A.; Guillin M.-C.; Iwanaga S.;
Biochemistry 31:7457-7462(1992)
Cited for: VARIANT FA2D ALA-509; PARTIAL PROTEIN SEQUENCE;
Prothrombin Frankfurt: a dysfunctional prothrombin characterized by substitution of Glu-466 by Ala.
Degen S.J.F.; McDowell S.A.; Sparks L.M.; Scharrer I.;
Thromb. Haemost. 73:203-209(1995)
Cited for: VARIANT FA2D ALA-509;
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.