Variant position: 145 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 GDLIAAQARLKDLEALLNSK EAALSTALSEKRTLEGELHDL
Mouse GDLLAAQARLKDLEALLNSK EAALSTALSEKRTLEGELHDL
Rat GDLLAAQARLKDLEALLNSK EAALSTALSEKRTLEGELHDL
Pig GDLMAAQARLKDLEALLNSK EAALSTALSEKRTLEGELHDL
Chicken ADLLAAQARLKDLEALLNSK EAALSTALGEKRNLENEVRDL
Xenopus laevis SDLLTAQARLKDLEALLNSK DAALTTALGEKRNLENEIREL
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.
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M.; Brown W.T.; Gordon L.B.; Glynn M.W.; Singer J.; Scott L.; Erdos M.R.; Robbins C.M.; Moses T.Y.; Berglund P.; Dutra A.; Pak E.; Durkin S.; Csoka A.B.; Boehnke M.; Glover T.W.; Collins F.S.;
Cited for: ALTERNATIVE SPLICING; INVOLVEMENT IN HGPS (ISOFORM 6); VARIANTS HGPS LYS-145 AND SER-608;
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