Variant position: 608 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 CGTCGQPADKASASGSGAQV GGPISSGSSASSVTVTRSYRS
Mouse CGTCGQPADKA-AGGAGAQV GGSISSGSSASSVTVTRSFRS
Rat CGTCGQPADKA-ASGSGAQV GGSISSGSSASSVTVTRSFRS
Pig CGTCGQPADKASASSSGAQV GGSISSGSSASSVTVTRSYRS
Chicken CGTCGQPADKGSAAAA---- ----SSASSASTVTVSRGYRS
Xenopus laevis CTSCGRPAEKSVLASQGSGL VTG-SSGSSSSSVTLTRTYRS
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
384 – 664 Tail
612 – 612 Phosphoserine
613 – 613 Phosphoserine
616 – 616 Phosphoserine
619 – 619 Phosphoserine
628 – 628 Phosphoserine
597 – 597 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
597 – 597 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
573 – 664 Missing. In isoform C.
607 – 656 Missing. In isoform 6.
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;
Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.
Haque F.; Mazzeo D.; Patel J.T.; Smallwood D.T.; Ellis J.A.; Shanahan C.M.; Shackleton S.;
J. Biol. Chem. 285:3487-3498(2010)
Cited for: INTERACTION WITH SUN1; CHARACTERIZATION OF VARIANTS EDMD2 PRO-527 AND PRO-530; CHARACTERIZATION OF VARIANT HGPS SER-608;
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).
Cao H.; Hegele R.A.;
J. Hum. Genet. 48:271-274(2003)
Cited for: VARIANTS HGPS CYS-471; CYS-527 AND SER-608;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.