Sequence information
Variant position: 253 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:
NSLMQDRDAASARAWPKMHT
V NGYVNRSLPGLIGCHRKSVY
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 NSLMQDRDAASARAWPKMHTV NGYVNRSLPGLIGCHRKSVY
ASLTQ------AEAQHELHTI NGYVNRSLPGLTVCHKRSVY
Mouse DSYTQSMDSASARDWPKMHTV NGYVNRSLPGLIGCHRKSVY
Pig DSWTRAMDPAPARAQPAMHTV NGYVNRSLPGLIGCHKKSVY
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
206 – 348
Plastocyanin-like 2
Glycosylation
258 – 258
N-linked (GlcNAc...) asparagine
Alternative sequence
9 – 2143
Missing. In isoform 2.
Literature citations
Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene.
Freson K.; Peerlinck K.; Aguirre T.; Arnout J.; Vermylen J.; Cassiman J.-J.; Matthijs G.;
Hum. Mutat. 11:470-479(1998)
Cited for: VARIANTS HEMA ASP-132; PHE-253; ILE-314; VAL-331; ARG-474; ARG-498; VAL-644; VAL-699; ASP-720; PHE-727 AND ASN-2105;
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.