Variant position: 393 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 470 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 EIRHLKDEMARHLREYQDLL NVKMALDVEIATYRKLLEGEE
Mouse EIRHLKDEMARHLREYQDLL NVKMALDVEIATYRKLLEGEE
Rat EIRHLKDEMARHLREYQDLL NVKMALDVEIATYRKLLEGEE
Pig EIRHLKDEMARHLREYQDLL NVKMALDVEIATYRKLLEGEE
Bovine EIRHLKDEMARHLREYQDLL NVKMALDVEIATYRKLLEGEE
Chicken EIRHLKDEMARHLREYQDLL NVKMALDVEIATYRKLLEGEE
Xenopus laevis EIRNMKDEMARHLREYQDLL NVKMALDMEIATYRKLLEGEE
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
2 – 470 Desmin
109 – 412 Rod
296 – 412 Coil 2B
378 – 378 N6-acetyllysine; alternate
388 – 388 Nitrated tyrosine
378 – 378 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
Missense mutations in desmin associated with familial cardiac and skeletal myopathy.
Goldfarb L.G.; Park K.-Y.; Cervenakova L.; Gorokhova S.; Lee H.-S.; Vasconcelos O.; Nagle J.W.; Semino-Mora C.; Sivakumar K.; Dalakas M.C.;
Nat. Genet. 19:402-403(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS MFM1 PRO-337; PRO-360 AND ILE-393;
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
Dalakas M.C.; Park K.-Y.; Semino-Mora C.; Lee H.S.; Sivakumar K.; Goldfarb L.G.;
N. Engl. J. Med. 342:770-780(2000)
Cited for: VARIANTS MFM1 PRO-337; ASP-342; PRO-360; ILE-393; TRP-406 AND MET-451; CHARACTERIZATION OF VARIANTS MFM1 PRO-337; ASP-342; PRO-360; ILE-393; TRP-406 AND MET-451;
Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.
Goudeau B.; Rodrigues-Lima F.; Fischer D.; Casteras-Simon M.; Sambuughin N.; de Visser M.; Laforet P.; Ferrer X.; Chapon F.; Sjoberg G.; Kostareva A.; Sejersen T.; Dalakas M.C.; Goldfarb L.G.; Vicart P.;
Hum. Mutat. 27:906-913(2006)
Cited for: VARIANTS MFM1 ARG-338; TYR-399 AND LYS-401; VARIANT VAL-213; CHARACTERIZATION OF VARIANTS MFM1 ARG-338; PRO-360; ILE-393; TYR-399 AND LYS-401; CHARACTERIZATION OF VARIANT VAL-213;
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.