Variant position: 416 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 485 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 RQVCQGLFNELLENGISVWP G---YLETMQSSLEQLYSKYDEMS
Mouse RQVCQGLLNELLENGISVWP G---YSETVHSSLEQLHSKYD
Bovine RQVCQGLFNELLENGISVWP G---YLETVQSSLEQLYSKYD
Xenopus laevis RLVCQGLSSELREQGVYVWP G---YQETLHGSLEQLYTKYD
Drosophila SDLCQHLKHVLNHAGLRLSE GDGIRTTKNASHLAEHLLETD
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 status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS THR-169 AND ALA-416;
Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.
Ferraris S.; Clark S.; Garelli E.; Davidzon G.; Moore S.A.; Kardon R.H.; Bienstock R.J.; Longley M.J.; Mancuso M.; Gutierrez Rios P.; Hirano M.; Copeland W.C.; DiMauro S.;
Arch. Neurol. 65:125-131(2008)
Cited for: VARIANT ALA-416; CHARACTERIZATION OF VARIANT ALA-416;
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