Variant position: 210 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2647 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 RDWQSGRALGALVDSCAPGL CPDWDSWDASKPVTNAREAMQ
Mouse RDWQSGRALGALVDSCAPGL CPDWDSWDASKPVNNAREAMQ
Drosophila NDWTTGKAVGALVDACAPGL CPDWELWDPKDAVQNASEAMG
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
2 – 2647 Filamin-A
166 – 269 Calponin-homology (CH) 2
2 – 274 Actin-binding
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.
Marino-Enriquez A.; Lapunzina P.; Robertson S.P.; Rodriguez J.I.;
Am. J. Med. Genet. A 143:1120-1125(2007)
Cited for: VARIANT OPD2 PHE-210;
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