Sequence information
Variant position: 450 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:
SWGEECAMKGKYGIYTKVSR
Y VNWIKEKTKLT
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 SWGEECAMKGKYGIYTKVSRY VNWIKEKTKLT
SWGEECAMKGKYGIYTKVSRY VNWIKEKTKLT
Chimpanzee SWGEECAMKGKYGIYTKVSRY VNWIKEKTKLT
Mouse SWGEECAMKGKYGIYTKVSRY VNWIKEKTKLT
Rat SWGEECAMKGKYGIYTKVSRY VNWIKEKTKLT
Bovine SWGEECAMKGKYGIYTKVSRY VNWIKEKTKLT
Cat SWGEECAMKGKYGIYTKVSRY VNWIKEKTKLT
Chicken SWGEECAKPGKYGIYTKVAKY VKWIRETTRLT
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
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;
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.