Variant position: 338 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 KQEMMEYRHQIQSYTCEIDA LKGTNDSLMRQMRELEDRFAS
Mouse KQEMMEYRHQIQSYTCEIDA LKGTNDSLMRQMRELEDRFAS
Rat KQEMMEYRHQIQSYTCEIDA LKGTNDSLMRQMRELEDRFAS
Pig KQEMMEYRHQIQSYTCEIDA LKGTNDSLMRQMRELEDRFAS
Bovine KQEMMEYRHQIQSYTCEIDA LKGTNDSLMRQMRELEDRFAS
Chicken KQEMLEYRHQIQSYTCEIDA LKGTNDSLMRQMREMEERFAG
Xenopus laevis KQEMMEYRHQIQSYTCEIDA LKGTNDSLMRQMRDLEEKFSG
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.
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.