Variant position: 126 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 231 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 RRLGLRLRMHVASLEACAVR LCELQGLQDARARPPPYTGVW
Mouse RLLGLRLRTHVAALEACAVR LCELRGLQGARARPPPYTGVW
Xenopus tropicalis GALRRSLRSYVCGLESAVIR LCRGLGLPGERQ---PDTGVW
Zebrafish GCFKKSVRWYVCELERTVIK MCGKFGIKASTS---PDTGVW
Drosophila GQFVPSIRWYVATLERMVVE ACHQMGISSAKA--TKDTGIW
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
32 – 231 Putative lipoyltransferase 2, mitochondrial
41 – 224 BPL/LPL catalytic
Biallelic mutations in LIPT2 cause a mitochondrial lipoylation defect associated with severe neonatal encephalopathy.
Habarou F.; Hamel Y.; Haack T.B.; Feichtinger R.G.; Lebigot E.; Marquardt I.; Busiah K.; Laroche C.; Madrange M.; Grisel C.; Pontoizeau C.; Eisermann M.; Boutron A.; Chretien D.; Chadefaux-Vekemans B.; Barouki R.; Bole-Feysot C.; Nitschke P.; Goudin N.; Boddaert N.; Nemazanyy I.; Delahodde A.; Koelker S.; Rodenburg R.J.; Korenke G.C.; Meitinger T.; Strom T.M.; Prokisch H.; Rotig A.; Ottolenghi C.; Mayr J.A.; de Lonlay P.;
Am. J. Hum. Genet. 101:283-290(2017)
Cited for: INVOLVEMENT IN NELABA; VARIANTS NELABA PRO-30; ARG-105 AND ARG-126; FUNCTION; SUBCELLULAR LOCATION;
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