Variant position: 481 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 664 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 DQSMGNWQIKRQNGDDPLLT YRFPPKFTLKAGQVVTIWAAG
Mouse DQSMGNWQIRRQNGDDPLMT YRFPPKFTLKAGQVVTIWASG
Rat DQSMGNWQIKRQNGDDPLMT YRFPPKFTLKAGQVVTIWASG
Pig DQSMGNWQIKRQNGDDPLLT YRFPPKFTLKAGQVVTIWAAG
Chicken DQALGNWQVKRQNGDDPPLT YRFPPKFTLKAGQAVTIWASG
Xenopus laevis DQSLGNWQIKRQIGDETPIV YKFPPRLTLKAGQTVTIWASG
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 – 661 Prelamin-A/C
1 – 646 Lamin-A/C
428 – 545 LTD
384 – 664 Tail
463 – 463 Phosphoserine
496 – 496 Phosphothreonine
470 – 470 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
486 – 486 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
479 – 482
A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block.
Kitaguchi T.; Matsubara S.; Sato M.; Miyamoto K.; Hirai S.; Schwartz K.; Bonne G.;
Neuromuscul. Disord. 11:542-546(2001)
Cited for: VARIANT EDMD2 HIS-481;
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