Variant position: 225 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 DFQKNIYSEELRETKRRHET RLVEIDNGKQREFESRLADAL
Mouse DFQKNIYSEELRETKRRHET RLVEIDNGKQREFESRLADAL
Rat DFQKNIYSEELRETKRRHET RLVEIDNGKQREFESRLADAL
Pig DFQKNIYSEELRETKRRHET RLVEIDNGKQREFESRLADAL
Chicken EFQKNIYSEELRETKRRHET RLVEIDNGRQQEFESKLAEAL
Xenopus laevis EFQKSIYNEEMRETKRRHET RLVEVDNGRQREFESKLADAL
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
208 – 208 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
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)
Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.
Jimenez-Escrig A.; Gobernado I.; Garcia-Villanueva M.; Sanchez-Herranz A.;
Muscle Nerve 45:605-610(2012)
Cited for: VARIANT EDMD3 GLN-225; FUNCTION;
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