Variant position: 84 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 CMEEKCSFEEAREVFENTER TTEFWKQYVDGDQCESNPCLN
Chimpanzee CMEEKCSFEEAREVFENTER TTEFWKQYVDGDQCESNPCLN
Mouse CIEERCSFEEAREVFENTEK TTEFWKQYVDGDQCESNPCLN
Rat CIEERCSFEEAREVFENTEK TTEFWKQYVDGDQCESNPCLN
Bovine CKEEKCSFEEAREVFENTEK TTEFWKQYVDGDQCESNPCLN
Cat CMEEKCSFEEAREVFENTEK TTEFWKQYVDGDQCESNPCLN
Chicken CIEEKCSFEEAREVFENTEK TMEFWKIYIDGDQCNSNPCKN
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
47 – 461 Coagulation factor IX
47 – 191 Coagulation factor IXa light chain
47 – 92 Gla
66 – 66 Calcium 4 or magnesium 1; via 4-carboxyglutamate
67 – 67 Calcium 1; via 4-carboxyglutamate
72 – 72 Calcium 5 or magnesium 2; via 4-carboxyglutamate
73 – 73 Calcium 2; via 4-carboxyglutamate
73 – 73 Calcium 3; via 4-carboxyglutamate
76 – 76 Calcium 3; via 4-carboxyglutamate
76 – 76 Calcium 5 or magnesium 2; via 4-carboxyglutamate
76 – 76 Calcium 5; via 4-carboxyglutamate
82 – 82 Calcium 6 or magnesium 3; via 4-carboxyglutamate
86 – 86 Calcium 6 or magnesium 3; via 4-carboxyglutamate
93 – 93 Calcium 7
94 – 94 Calcium 7; via carbonyl oxygen
96 – 96 Calcium 7
66 – 66 4-carboxyglutamate
67 – 67 4-carboxyglutamate
72 – 72 4-carboxyglutamate
73 – 73 4-carboxyglutamate
76 – 76 4-carboxyglutamate
79 – 79 4-carboxyglutamate
82 – 82 4-carboxyglutamate
86 – 86 4-carboxyglutamate
85 – 85 O-linked (GalNAc...) threonine
99 – 99 O-linked (Glc...) serine
81 – 90
Molecular analyses in hemophilia B families: identification of six new mutations in the factor IX gene.
Espinos C.; Casana P.; Haya S.; Cid A.R.; Aznar J.A.;
Cited for: VARIANTS HEMB TRP-43; ARG-84; ARG-125; VAL-125; PHE-170; ARG-302; MET-342; LEU-344; LEU-395; THR-414; TYR-435; GLU-442 AND TRP-449;
Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations.
Guo Z.P.; Yang L.H.; Qin X.Y.; Liu X.E.; Chen J.F.; Zhang Y.F.;
Cited for: VARIANTS HEMB SER-20; TYR-28; SER-46; ASP-54; GLU-58; ARG-84; HIS-138; GLN-226; ILE-284 DEL; MET-296; LYS-328; TYR-328; THR-414 AND TYR-THR-LYS-VAL-447 INS; CHARACTERIZATION OF VARIANTS HEMB SER-20; TYR-28; SER-46; ASP-54; GLU-58; ARG-84; HIS-138; GLN-226; ILE-284 DEL; MET-296; LYS-328; TYR-328; THR-414 AND TYR-THR-LYS-VAL-447 INS;
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.