Variant position: 259 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 SRLADALQELRAQHEDQVEQ YKKELEKTYSAKLDNARQSAE
Mouse SRLADALQELRAQHEDQVEQ YKKELEKTYSAKLDNARQSAE
Rat SRLADALQELRAQHEDQVEQ YKKELEKTYSAKLDNARQSAE
Pig SRLADALQDLRAQHEDQVEQ YKKELEKTYSAKLDNARQSAE
Chicken SKLAEALQDLRRQHEDQIRH YRDELEKTYGAKLENAKQSAE
Xenopus laevis SKLADALHELRAQHEGQIGL YKEELGKTYNAKLENAKQSAE
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
243 – 383 Coil 2
259 – 331 Necessary and sufficient for the interaction with IFFO1
266 – 266 Heptad change of phase
260 – 260 N6-acetyllysine; alternate
270 – 270 N6-acetyllysine; alternate
277 – 277 Phosphoserine
260 – 260 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
270 – 270 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
252 – 278
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
Fattahi Z.; Kalhor Z.; Fadaee M.; Vazehan R.; Parsimehr E.; Abolhassani A.; Beheshtian M.; Zamani G.; Nafissi S.; Nilipour Y.; Akbari M.R.; Kahrizi K.; Kariminejad A.; Najmabadi H.;
Clin. Genet. 91:386-402(2017)
Cited for: VARIANT EDMD3 SER-24; VARIANT EDMD2 CYS-259;
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.