Variant position: 252 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 620 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 ETRRRHERRLVEVDSSRQQE YDFKMAQALEELRSQHDEQVR
Mouse ETRRRHERRLVEVDSSRQQE YDFKMAQALEDLRSQHDEQVR
Chicken ETRKRHEHRLVEVDTSRQQE YENKMAQALEDLRNQHDEQVK
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
1 – 617 Lamin-B2
46 – 402 IF rod
230 – 256 Linker 2
255 – 255 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
A Chinese patient with acquired partial lipodystrophy caused by a novel mutation with LMNB2 gene.
Gao J.; Li Y.; Fu X.; Luo X.;
J. Pediatr. Endocrinol. Metab. 25:375-377(2012)
Cited for: VARIANT APLD HIS-252;
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