Variant position: 251 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2725 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 VPQVIAPEEIVDPNVDEHSV MTYLSQFPKAKLKPGAPVRSK
Mouse VPQVIAPEEIVDPNVDEHSV MTYLSQFPKAKLKPGAPVRSK
Rat VPQVIAPEEIVDPNVDEHSV MTYLSQFPKAKLKPGAPVRSK
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 – 2725 Filamin-C
159 – 262 Calponin-homology (CH) 2
1 – 259 Actin-binding
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
Duff R.M.; Tay V.; Hackman P.; Ravenscroft G.; McLean C.; Kennedy P.; Steinbach A.; Schoffler W.; van der Ven P.F.; Furst D.O.; Song J.; Djinovic-Carugo K.; Penttila S.; Raheem O.; Reardon K.; Malandrini A.; Gambelli S.; Villanova M.; Nowak K.J.; Williams D.R.; Landers J.E.; Brown R.H. Jr.; Udd B.; Laing N.G.;
Am. J. Hum. Genet. 88:729-740(2011)
Cited for: VARIANTS MPD4 THR-193 AND THR-251; CHARACTERIZATION OF VARIANTS MPD4 THR-193 AND THR-251;
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.