Variant position: 350 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 SYTCEIDALKGTNDSLMRQM RELEDRFASEASGYQDNIARL
Mouse SYTCEIDALKGTNDSLMRQM RELEDRFASEANGYQDNIARL
Rat SYTCEIDALKGTNDSLMRQM RELEDRFASEASGYQDNIARL
Pig SYTCEIDALKGTNDSLMRQM RELEDRFASEASGYQDNIARL
Bovine SYTCEIDALKGTNDSLMRQM RELEDRFASEASGYQDNIARL
Dog SYTCEIDALKGTNDSLMRQM REMEDRFASEASGYQDNIARL
Chicken SYTCEIDALKGTNDSLMRQM REMEERFAGEAGGYQDTIARL
Xenopus laevis SYTCEIDALKGTNDSLMRQM RDLEEKFSGEAAGYQDTIGRL
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.
Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.
Baer H.; Fischer D.; Goudeau B.; Kley R.A.; Clemen C.S.; Vicart P.; Herrmann H.; Vorgerd M.; Schroeder R.;
Hum. Mol. Genet. 14:1251-1260(2005)
Cited for: VARIANT MFM1 PRO-350; CHARACTERIZATION OF VARIANT MFM1 PRO-350;
Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.
Walter M.C.; Reilich P.; Huebner A.; Fischer D.; Schroeder R.; Vorgerd M.; Kress W.; Born C.; Schoser B.G.; Krause K.H.; Klutzny U.; Bulst S.; Frey J.R.; Lochmueller H.;
Cited for: VARIANT KAESER SYNDROME PRO-350;
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.