Variant position: 40 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 376 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 AGFAGDDAPRAVFPSIVGRP RHQGVMVGMGQKDSYVGDEAQ
Mouse AGFAGDDAPRAVFPSIVGRP RHQGVMVGMGQKDSYVGDEAQ
Rat AGFAGDDAPRAVFPSIVGRP RHQGVMVGMGQKDSYVGDEAQ
Bovine AGFAGDDAPRAVFPSIVGRP RHQGVMVGMGQKDSYVGDEAQ
Chicken AGFAGDDAPRAVFPSIVGRP RHQGVMVGMGQKDSYVGDEAQ
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
2 – 376 Actin, gamma-enteric smooth muscle, intermediate form
3 – 376 Actin, gamma-enteric smooth muscle
45 – 45 Methionine (R)-sulfoxide
48 – 48 Methionine (R)-sulfoxide
51 – 51 Isoglutamyl lysine isopeptide (Lys-Glu) (interchain with E-271); by Vibrio toxins RtxA and VgrG1
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
Wangler M.F.; Gonzaga-Jauregui C.; Gambin T.; Penney S.; Moss T.; Chopra A.; Probst F.J.; Xia F.; Yang Y.; Werlin S.; Eglite I.; Kornejeva L.; Bacino C.A.; Baldridge D.; Neul J.; Lehman E.L.; Larson A.; Beuten J.; Muzny D.M.; Jhangiani S.; Gibbs R.A.; Lupski J.R.; Beaudet A.;
PLoS Genet. 10:E1004258-E1004258(2014)
Cited for: VARIANTS VSCM CYS-40; HIS-40; THR-45; GLY-63; LEU-110; ASN-134; CYS-178; HIS-178; ASP-198 AND CYS-257;
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.