Variant position: 602 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 RSRTVLCGTCGQPADKASAS GSGAQVGGPISSGSSASSVTV
Mouse RSRTVLCGTCGQPADKA-AG GAGAQVGGSISSGSSASSVTV
Rat RSRTVLCGTCGQPADKA-AS GSGAQVGGSISSGSSASSVTV
Pig RSRTVLCGTCGQPADKASAS SSGAQVGGSISSGSSASSVTV
Chicken RSRTVLCGTCGQPADKGSAA AA--------SSASSASTVTV
Xenopus laevis RSRTIVCTSCGRPAEKSVLA SQGSGLVTG-SSGSSSSSVTL
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
598 – 619 Disordered
612 – 612 Phosphoserine
613 – 613 Phosphoserine
616 – 616 Phosphoserine
619 – 619 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.
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
Scharner J.; Brown C.A.; Bower M.; Iannaccone S.T.; Khatri I.A.; Escolar D.; Gordon E.; Felice K.; Crowe C.A.; Grosmann C.; Meriggioli M.N.; Asamoah A.; Gordon O.; Gnocchi V.F.; Ellis J.A.; Mendell J.R.; Zammit P.S.;
Hum. Mutat. 32:152-167(2011)
Cited for: VARIANTS EDMD2 SER-39; CYS-45; PRO-150; PRO-189; ARG-190 INS; LEU-206; TRP-249; GLN-249; PRO-268; PRO-271; PRO-294; PRO-295; PRO-303; GLN-355 DEL; LYS-358; LYS-361; LYS-386; ASP-449; TRP-453; PRO-454; TYR-461; ARG-467; PRO-527; LYS-528; ARG-528; SER-541; PRO-541; SER-602 AND CYS-644; CHARACTERIZATION OF VARIANTS EDMD2 PRO-25; TRP-249; ILE-456 AND PRO-541;
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.