Variant position: 46 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 461 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 AECTVFLDHENANKILNRPK RYNSGKLEEFVQGNLERECME
Chimpanzee AECTVFLDHENANKILNRPK RYNSGKLEEFVQGNLERECME
Mouse TECAVFLDRENATKILTRPK RYNSGKLEEFVRGNLERECIE
Rat TECAVFLDRENATKILTRPK RYNSGKLEEFVQGNLERECIE
Bovine AECTVFLDRENATKILHRPK RYNSGKLEEFVRGNLERECKE
Cat ADCTVFLDHEDATKVLSRPK RYNSGKLEEFVQGNLERECME
Chicken AESTVFIENKEASTVLSRTR RGNSNRLEELIPGNLERECIE
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.
Type Positions Description
29 – 46
47 – 47 Calcium 1; via carbonyl oxygen
48 – 48 Calcium 2
53 – 53 Calcium 1; via 4-carboxyglutamate
53 – 53 Calcium 2; via 4-carboxyglutamate
54 – 54 Calcium 2; via 4-carboxyglutamate
54 – 54 Calcium 3; via 4-carboxyglutamate
61 – 61 Calcium 4; via 4-carboxyglutamate
61 – 61 Magnesium 1; via 4-carboxyglutamate
63 – 63 Calcium 1; via 4-carboxyglutamate
63 – 63 Calcium 2; via 4-carboxyglutamate
63 – 63 Calcium 3; via 4-carboxyglutamate
66 – 66 Calcium 4; via 4-carboxyglutamate
66 – 66 Magnesium 1; via 4-carboxyglutamate
53 – 53 4-carboxyglutamate
54 – 54 4-carboxyglutamate
61 – 61 4-carboxyglutamate
63 – 63 4-carboxyglutamate
66 – 66 4-carboxyglutamate
Germline mutations in Peruvian patients with hemophilia B: pattern of mutation in Amerindians is similar to the putative endogenous germline pattern.
Heit J.A.; Thorland E.C.; Ketterling R.P.; Lind T.J.; Daniels T.M.; Zapata R.E.; Ordonez S.M.; Kasper C.K.; Sommer S.S.;
Hum. Mutat. 11:372-376(1998)
Cited for: VARIANTS HEMB GLN-43; TRP-43; THR-46; SER-106; CYS-115; PHE-155; GLN-379; GLU-387; VAL-432 AND CYS-450;
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.