Sequence information
Variant position: 136 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:
NDRFANYIEKVRFLEQQNAA
L AAEVNRLKGREPTRVAELYE
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 NDRFANYIEKVRFLEQQNAAL AAEVNRLKGREPTRVAELYE
NDRFANYIEKVRFLEQQNAAL AAEVNRLKGREPTRVAEIYE
Mouse NDRFANYIEKVRFLEQQNAAL AAEVNRLKGREPTRVAELYE
Rat NDRFANYFEKVRFLEQQNAAL AAEVNRLKGREPTRVAELYE
Pig NDRFANYIEKVRFLEQQNAAL AAEVNRLKGREPTRVAEIYE
Bovine NDRFANYIEKVRFLEQQNAAL AAEVNRLKGREPTRVAEIYE
Chicken NDRFANYIEKVRFLEQQNALM VAEVNRLRGKQPTRVAEMYE
Xenopus laevis NDRFANYIEKVRYLEQQNQIL VAEVNRLKGKEPTRVNELYE
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
Chain
1 – 470
Desmin
Domain
108 – 416
IF rod
Region
109 – 141
Coil 1A
Mutagenesis
120 – 120
A -> ER. Results in impaired filaments formation.
Mutagenesis
120 – 120
A -> KLV. Does not result in impaired filaments formation.
Literature citations
Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect.
Brodehl A.; Dieding M.; Biere N.; Unger A.; Klauke B.; Walhorn V.; Gummert J.; Schulz U.; Linke W.A.; Gerull B.; Vorgert M.; Anselmetti D.; Milting H.;
J. Mol. Cell. Cardiol. 91:207-214(2016)
Cited for: VARIANT CMD1I PRO-136; CHARACTERIZATION OF VARIANT CMD1I PRO-136; FUNCTION; SUBCELLULAR LOCATION;
Disclaimer:
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.