Sequence information
Variant position: 189 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2351 The length of the canonical sequence.
Location on the sequence:
DPLCLTYSYLSHVDLVKDLN
S GLIGALLVCREGSLAKEKTQ
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 DPLCLTYSYLSHVDLVKDLNS GLIGALLVCREGSLAKEKTQ
DPPCLTYSYFSHVDLVKDLNS GLIGALLVCKEGSLAKERTQ
Mouse DPPCLTYSYMSHVDLVKDLNS GLIGALLVCKEGSLSKERTQ
Pig DPPCLTYSYLSHVDLVKDLNS GLIGALLVCREGSLTRERTQ
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
Chain
20 – 2351
Coagulation factor VIII
Chain
20 – 1332
Factor VIIIa heavy chain, 200 kDa isoform
Chain
20 – 759
Factor VIIIa heavy chain, 92 kDa isoform
Domain
20 – 348
F5/8 type A 1
Domain
20 – 198
Plastocyanin-like 1
Disulfide bond
172 – 198
Alternative sequence
9 – 2143
Missing. In isoform 2.
Literature citations
A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A.
Chan V.; Chan T.K.; Tong T.M.; Todd D.;
Blood 74:2688-2691(1989)
Cited for: VARIANT HEMA LEU-189;
Molecular characterization of haemophilia A in southern Chinese.
Chan V.; Pang A.; Chan T.P.T.; Chan V.W.-Y.; Chan T.K.;
Br. J. Haematol. 93:451-456(1996)
Cited for: VARIANTS HEMA LEU-189; SER-263; ARG-947; LYS-1057; SER-1610 AND HIS-2169; VARIANT MET-2242;
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.