Sequence information
Variant position: 138 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:
WCPFGFEGKNCELDVTCNIK
N GRCEQFCKNSADNKVVCSCT
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 WCPFGFEGKNCELDVTCNIKN GRCEQFCKNSADNKVVCSCT
WCRAGFEGKNCELDVTCNIKN GRCKQFCKLGPDNKVVCSCT
Chimpanzee WCPFGFEGKNCELDVTCNIKN GRCEQFCKNSADNKVVCSCT
Mouse WCQVGFEGRNCELDATCNIKN GRCKQFCKNSPDNKVICSCT
Rat WCQAGFEGRNCELDATCSIKN GRCKQFCKNSPDNKIICSCT
Bovine WCQAGFEGTNCELDATCSIKN GRCKQFCKRDTDNKVVCSCT
Cat WCQTGFEGKNCELDVTCNIKN GRCKQFCKLDADNKVVCSCT
Chicken MCPPGYGGRNCEIDSTCATKN GGCEHFCRHDTPQKAVCSCA
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
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.;
Haemophilia 20:859-865(2014)
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;
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.