Variant position: 1327 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2224 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 LSQTNLSPALGQMPISPDLS HTTLSLDFSQTNLSPELSQTN
Mouse LGQVPLSSD----------N QKTSSPDLGQVPLFPEDNQNY
Pig LGHTTLSPDLGHTTLSPDFS QTTLSPDLGHTTLSSDVSHTT
Bovine LGQTALSPDP---------S QESLSPDLGQTALSPDPSQES
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.
Detection of new polymorphic markers in the factor V gene: association with factor V levels in plasma.
Lunghi B.; Iacoviello L.; Gemmati D.; Dilasio M.G.; Castoldi E.; Pinotti M.; Castaman G.; Redaelli R.; Mariani G.; Marchetti G.; Bernardi F.;
Thromb. Haemost. 75:45-48(1996)
Cited for: VARIANTS ILE-1285 AND ARG-1327;
Combinations of 4 mutations (FV R506Q, FV H1299R, FV Y1702C, PT 20210G/A) affecting the prothrombinase complex in a thrombophilic family.
Castoldi E.; Simioni P.; Kalafatis M.; Lunghi B.; Tormene D.; Girelli D.; Girolami A.; Bernardi F.;
Cited for: VARIANT FA5D CYS-1730; VARIANT THPH2 GLN-534; VARIANT ARG-1327;
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