Variant position: 2741 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2871 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 NGYPKRGRKRRSTNETDASN IEDQSETEANVSLASWDVEKT
Mouse NGYPKRGRKRRSTNETDASD IQDGSEMEANVSLASWDVEKP
Pig NGYPKRGRKRRSTNETDAFN IEDQPETESNVSLASWDVEKT
Bovine NGYPKRGRKRRSANETDASN IEDQPEIEANVSLASWDVEKT
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
2732 – 2871 Asprosin
2734 – 2734 N-linked (GlcNAc...) asparagine
2750 – 2750 N-linked (GlcNAc...) asparagine
2728 – 2728 R -> A. Abolishes furin cleavage site, leading to defects in protein processing at the C-terminus.
2731 – 2731 R -> K. Abolishes furin cleavage site, leading to defects in protein processing at the C-terminus.
2732 – 2732 S -> T. Defects in protein processing at the C-terminus.
De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.
Garg A.; Xing C.;
Am. J. Med. Genet. A 164A:1341-1345(2014)
Cited for: INVOLVEMENT IN MFLS (ASPROSIN); VARIANT MFLS THR-2741;
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