Variant position: 133 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 FKELKARNTKKEGDLIAAQA RLKDLEALLNSKEAALSTALS
Mouse FKELKARNTKKEGDLLAAQA RLKDLEALLNSKEAALSTALS
Rat FKELKARNTKKEGDLLAAQA RLKDLEALLNSKEAALSTALS
Pig FKELKARNTKKEGDLMAAQA RLKDLEALLNSKEAALSTALS
Chicken HKELKARNAKKEADLLAAQA RLKDLEALLNSKEAALSTALG
Xenopus laevis HKELKARNAKKESDLLTAQA RLKDLEALLNSKDAALTTALG
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.
A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.
Caux F.; Dubosclard E.; Lascols O.; Buendia B.; Chazouilleres O.; Cohen A.; Courvalin J.-C.; Laroche L.; Capeau J.; Vigouroux C.; Christin-Maitre S.;
J. Clin. Endocrinol. Metab. 88:1006-1013(2003)
Cited for: VARIANT FPLD2 LEU-133;
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.