Variant position: 345 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 RHQIQSYTCEIDALKGTNDS LMRQMRELEDRFASEASGYQD
Mouse RHQIQSYTCEIDALKGTNDS LMRQMRELEDRFASEANGYQD
Rat RHQIQSYTCEIDALKGTNDS LMRQMRELEDRFASEASGYQD
Pig RHQIQSYTCEIDALKGTNDS LMRQMRELEDRFASEASGYQD
Bovine RHQIQSYTCEIDALKGTNDS LMRQMRELEDRFASEASGYQD
Chicken RHQIQSYTCEIDALKGTNDS LMRQMREMEERFAGEAGGYQD
Xenopus laevis RHQIQSYTCEIDALKGTNDS LMRQMRDLEEKFSGEAAGYQD
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.
A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.
Sjoeberg G.; Saavedra-Matiz C.A.; Rosen D.R.; Wijsman E.M.; Borg K.; Horowitz S.H.; Sejersen T.;
Hum. Mol. Genet. 8:2191-2198(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 337-353; VARIANT MFM1 PRO-345; CHARACTERIZATION OF VARIANT MFM1 PRO-345;
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.