Variant position: 135 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 146 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 DELINIIDGVLRDDDKNNDG YIDYAEFAKSLQ
Mouse DELVSIIDGVLRDDDKNNDG YIDYAEFAKSLQ
Rat DELISIIDGVLRDDDKNNDG YIDYAEFAKSLQ
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.
The first case of combined coagulation factor V and coagulation factor VIII deficiency in Poland due to a novel p.Tyr135Asn missense mutation in the MCFD2 gene.
Ivaskevicius V.; Windyga J.; Baran B.; Bykowska K.; Daugela L.; Watzka M.; Seifried E.; Oldenburg J.;
Blood Coagul. Fibrinolysis 19:531-534(2008)
Cited for: VARIANT F5F8D2 ASN-135;
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