Variant position: 336 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 KEAKLRDLEDSLARERDTSR RLLAEKEREMAEMRARMQQQL
Mouse KEAKLRDLEDSLARERDTSR RLLAEKEREMAEMRARMQQQL
Rat KEAKLRDLEDSLARERDTSR RLLAEKEREMAEMRARMQQQL
Pig KEAKLRDLEDSLARERDTSR RLLADKEREMAEMRARMQQQL
Chicken KEAKLREVEEALSREREGGR RLLAEKEREMAEMRARMQQQL
Xenopus laevis REAKLRDLEDAYARERDSSR RLLADKDREMAEMRARMQQQL
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.
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
Raffaele di Barletta M.; Ricci E.; Galluzzi G.; Tonali P.; Mora M.; Morandi L.; Romorini A.; Voit T.; Orstavik K.H.; Merlini L.; Trevisan C.; Biancalana V.; Housmanowa-Petrusewicz I.; Bione S.; Ricotti R.; Schwartz K.; Bonne G.; Toniolo D.;
Am. J. Hum. Genet. 66:1407-1412(2000)
Cited for: VARIANTS EDMD2 TYR-222; GLN-249; GLN-336; TRP-453; THR-469; PRO-527 AND LYS-528;
Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy.
Vytopil M.; Ricci E.; Dello Russo A.; Hanisch F.; Neudecker S.; Zierz S.; Ricotti R.; Demay L.; Richard P.; Wehnert M.; Bonne G.; Merlini L.; Toniolo D.;
Neuromuscul. Disord. 12:958-963(2002)
Cited for: VARIANTS EDMD2 LYS-32 DEL; ASN-63; GLN-336; GLN-343 AND CYS-401;
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.