Variant position: 624 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 GAQVGGPISSGSSASSVTVT RSYRSVGGSGGG-SFGDNLVTR
Mouse GAQVGGSISSGSSASSVTVT RSFRSVGGSGGG-SFGDNLVT
Rat GAQVGGSISSGSSASSVTVT RSFRSVGGSGGG-SFGDNLVT
Pig GAQVGGSISSGSSASSVTVT RSYRSVGGSGGG-SFGDNLVT
Chicken --------SSASSASTVTVS RGYRSS----GG-GIGEGLLG
Xenopus laevis GSGLVTG-SSGSSSSSVTLT RTYRSTGGTSGGSGLGESPVT
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
628 – 628 Phosphoserine
632 – 632 Phosphoserine
636 – 636 Phosphoserine
573 – 664 Missing. In isoform C.
607 – 656 Missing. In isoform 6.
644 – 644 R -> A. Does not affect tail cleavage.
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
Brown C.A.; Lanning R.W.; McKinney K.Q.; Salvino A.R.; Cherniske E.; Crowe C.A.; Darras B.T.; Gominak S.; Greenberg C.R.; Grosmann C.; Heydemann P.; Mendell J.R.; Pober B.R.; Sasaki T.; Shapiro F.; Simpson D.A.; Suchowersky O.; Spence J.E.;
Am. J. Med. Genet. 102:359-367(2001)
Cited for: VARIANTS EDMD2 PRO-25; THR-43; SER-50; PRO-133; 196-ARG--THR-199 DELINS SER; GLN-249; LYS-261 DEL; LYS-358; TRP-453; ILE-456; PRO-527 AND HIS-624;
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.