Variant position: 298 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 AERNSNLVGAAHEELQQSRI RIDSLSAQLSQLQKQLAAKEA
Mouse AERNSNLVGAAHEELQQSRI RIDSLSAQLSQLQKQLAAKEA
Rat AERNSNLVGAAHEELQQSRI RIDSLSAQLSQLQKQLAAKEA
Pig AERNSNLVGAAHEELQQSRI RIDSLSAQLSQLQKQLAAKEA
Chicken AERNSSMAGAAHEELQQTHI RIDSLSAELSQLQKQLAAKEA
Xenopus laevis AERNSSLVGEAQEEIQQSRI RIDSLSAQLSQLQKQLAAREA
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
301 – 301 Phosphoserine
307 – 307 Phosphoserine
311 – 311 N6-acetyllysine; alternate
311 – 311 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
De Sandre-Giovannoli A.; Chaouch M.; Kozlov S.; Vallat J.-M.; Tazir M.; Kassouri N.; Szepetowski P.; Hammadouche T.; Vandenberghe A.; Stewart C.L.; Grid D.; Levy N.;
Am. J. Hum. Genet. 70:726-736(2002)
Cited for: VARIANT CMT2B1 CYS-298; FUNCTION;
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.