Sequence information
Variant position: 116 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:
AVNQEFLTTRTNEKVELQEL
N DRFANYIEKVRFLEQQNAAL
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 AVNQEFLTTRTNEKVELQELN DRFANYIEKVRFLEQQNAAL
Mouse AVNQEFLATRTNEKVELQELN DRFANYIEKVRFLEQQNAAL
Rat AVNQEFLATRTNEKVELQELN DRFANYFEKVRFLEQQNAAL
Pig AVNQEFLTTRTNEKVELQELN DRFANYIEKVRFLEQQNAAL
Bovine AVNQEFLTTRTNEKVELQELN DRFANYIEKVRFLEQQNAAL
Chicken AMNQEFLQTRTNEKVELQELN DRFANYIEKVRFLEQQNALM
Xenopus laevis AMNQEFLQTRTNEKVELQDLN DRFANYIEKVRYLEQQNQIL
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
2 – 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
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.
Klauke B.; Kossmann S.; Gaertner A.; Brand K.; Stork I.; Brodehl A.; Dieding M.; Walhorn V.; Anselmetti D.; Gerdes D.; Bohms B.; Schulz U.; Zu Knyphausen E.; Vorgerd M.; Gummert J.; Milting H.;
Hum. Mol. Genet. 19:4595-4607(2010)
Cited for: VARIANT MFM1 SER-116; CHARACTERIZATION OF VARIANT MFM1 SER-116;
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.