Variant position: 13 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 MSQAYSSSQRVS SYRRTFGGAPGFPLGSPLSSP
Mouse MSQAYSSSQRVS SYRRTFGGAPGFSLGSPLSSP
Rat MSQAYSSSQRVS SYRRTFGGAPGFSLGSPLSSP
Pig MSQAYSSSQRVS SYRRTFGGAPSFPLGSPLSSP
Bovine MSQAYSSSQRVS SYRRTFGGAPSFPLGSPLSSP
Dog MSQAYSSSQRVS SYRRTFGGAGGFPLGSPLGSP
Chicken -SQSYSSSQRVS SYRRTFGGG---------TSP
Xenopus laevis MSQSYSSNQRAS SYRRTFGGG----------SP
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
1 – 470 Desmin
1 – 108 Head
12 – 12 Phosphoserine; by AURKB
17 – 17 Phosphothreonine; by AURKB
Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.
Pica E.C.; Kathirvel P.; Pramono Z.A.; Lai P.S.; Yee W.C.;
Neuromuscul. Disord. 18:178-182(2008)
Cited for: VARIANT MFM1 PHE-13;
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.
van Tintelen J.P.; Van Gelder I.C.; Asimaki A.; Suurmeijer A.J.; Wiesfeld A.C.; Jongbloed J.D.; van den Wijngaard A.; Kuks J.B.; van Spaendonck-Zwarts K.Y.; Notermans N.; Boven L.; van den Heuvel F.; Veenstra-Knol H.E.; Saffitz J.E.; Hofstra R.M.; van den Berg M.P.;
Heart Rhythm 6:1574-1583(2009)
Cited for: VARIANT MFM1 PHE-13; PHENOTYPIC VARIABILITY IN MFM1 PATIENTS;
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.