Sequence information
Variant position: 419 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:
DVEIATYRKLLEGEESRINL
P IQTYSALNFRETSPEQRGSE
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 DVEIATYRKLLEGEESRINLP I-QTY-SALNFRETSPEQRGSE
Mouse DVEIATYRKLLEGEESRINLP I-QTF-SALNFRETSPEQRG
Rat DVEIATYRKLLEGEESRINLP I-QTF-SALNFRETSPEQRG
Pig DVEIATYRKLLEGEESRINLP I-QTF-SALNFRETSPEQRG
Bovine DVEIATYRKLLEGEESRINLP I-QTF-SALNFRETSPEQRG
Chicken DVEIATYRKLLEGEENRISIP MHQTFASALNFRETSPDQRG
Xenopus laevis DMEIATYRKLLEGEESRITLP I-QTF-SALSFRETSPEQRA
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.
Literature citations
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.
Hedberg C.; Melberg A.; Kuhl A.; Jenne D.; Oldfors A.;
Eur. J. Hum. Genet. 20:984-985(2012)
Cited for: VARIANT MFM1 SER-419;
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.