Variant position: 230 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 IYSEELRETKRRHETRLVEI DNGKQREFESRLADALQELRA
Mouse IYSEELRETKRRHETRLVEI DNGKQREFESRLADALQELRA
Rat IYSEELRETKRRHETRLVEI DNGKQREFESRLADALQELRA
Pig IYSEELRETKRRHETRLVEI DNGKQREFESRLADALQDLRA
Chicken IYSEELRETKRRHETRLVEI DNGRQQEFESKLAEALQDLRR
Xenopus laevis IYNEEMRETKRRHETRLVEV DNGRQREFESKLADALHELRA
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
31 – 387 IF rod
219 – 242 Linker 2
212 – 212 Phosphoserine
219 – 219 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
233 – 233 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).
Lanktree M.; Cao H.; Rabkin S.W.; Hanna A.; Hegele R.A.;
Clin. Genet. 71:183-186(2007)
Cited for: VARIANTS FPLD2 ASN-230; CYS-399 AND LEU-573;
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.