Variant position: 201 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 360 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 MKVSYRGHFLHNIYPCAFID SPEFRSTQMHKGEKFQVTIIA
Mouse MKVSYRGHFLHNIYPCAFID SPEFRSTQMHKGEKFQVTIVA
Rat MKVSYRGHFLHNIYPCAFID SPEFRSTQMHKGEKFQVTIVA
Pig MKVSYRGHFLHNIYPCAFID SPEFRSTQMHKGEKFQVTIIA
Chicken MKVSYRGHFLHNIYPCAFID SPEFRSTQMNRGEKFQVTIIA
Xenopus tropicalis MKVSYRGHFLHAISPNAYID SPEFRSTEMNRGETFQVTITA
Zebrafish MKVSYRGHFLHNIYTNAFID SPEFRSTQMNRGERFQVTIAA
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 – 360 Blood vessel epicardial substance
114 – 360 Cytoplasmic
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking.
Schindler R.F.; Scotton C.; Zhang J.; Passarelli C.; Ortiz-Bonnin B.; Simrick S.; Schwerte T.; Poon K.L.; Fang M.; Rinne S.; Froese A.; Nikolaev V.O.; Grunert C.; Mueller T.; Tasca G.; Sarathchandra P.; Drago F.; Dallapiccola B.; Rapezzi C.; Arbustini E.; Di Raimo F.R.; Neri M.; Selvatici R.; Gualandi F.; Fattori F.; Pietrangelo A.; Li W.; Jiang H.; Xu X.; Bertini E.; Decher N.; Wang J.; Brand T.; Ferlini A.;
J. Clin. Invest. 126:239-253(2016)
Cited for: INVOLVEMENT IN LGMDR25; VARIANT LGMDR25 PHE-201; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; INTERACTION WITH KCNK2; CAMP-BINDING;
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.