Variant position: 1285 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 TNLSPALGQMPLSPDLSHTT LSLDFSQTNLSPELSHMTLSP
Mouse KTSSPDLGQVPLSLDDNQKT TSPDLGQVPLSPDDNQMITSP
Pig TTLSPDLGHTTLSPDLSHTT LSPDLGHATLSPDLSHTTLSP
Bovine ESLSPDLGQTALSPDPGQES LSPDLGQTSLSPDLSQESLSP
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.
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT THPH2 GLN-534; VARIANTS SER-15; HIS-107; THR-413; LYS-513; SER-809; THR-817; ARG-858; ARG-865; SER-915; GLU-925; SER-969; LEU-980; GLN-1146; ILE-1285; SER-1404; ALA-1530 AND THR-2148;
Cloning of cDNAs coding for the heavy chain region and connecting region of human factor V, a blood coagulation factor with four types of internal repeats.
Kane W.H.; Ichinose A.; Hagen F.S.; Davie E.W.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-1600; VARIANTS ARG-858; ARG-865; GLU-925 AND ILE-1285;
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;
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