Sequence information
Variant position: 178 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:
DGVTHNVPIYEGYALPHAIM
R LDLAGRDLTDYLMKILTERG
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 DGVTHNVPIYEGYALPHAIMR LDLAGRDLTDYLMKILTERG
Mouse DGVTHNVPIYEGYALPHAIMR LDLAGRDLTDYLMKILTERG
Rat DGVTHNVPIYEGYALPHAIMR LDLAGRDLTDYLMKILTERG
Bovine DGVTHNVPIYEGYALPHAIMR LDLAGRDLTDYLMKILTERG
Chicken DGVTHNVPIYEGYALPHAIMR LDLAGRDLTDYLMKILTERG
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
Chain
2 – 376
Actin, gamma-enteric smooth muscle, intermediate form
Chain
3 – 376
Actin, gamma-enteric smooth muscle
Literature citations
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.
Thorson W.; Diaz-Horta O.; Foster J. II; Spiliopoulos M.; Quintero R.; Farooq A.; Blanton S.; Tekin M.;
Hum. Genet. 133:737-742(2014)
Cited for: VARIANTS MMIHS5 CYS-178 AND LEU-178; CHARACTERIZATION OF VARIANTS MMIHS5 CYS-178 AND LEU-178; INVOLVEMENT IN MMIHS5;
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 MMIHS5 CYS-40; HIS-40; ASN-134; CYS-178; HIS-178 AND CYS-257; VARIANTS VSCM1 HIS-40; THR-45; GLY-63; LEU-110 AND ASP-198; INVOLVEMENT IN MMIHS5; INVOLVEMENT IN VSCM1;
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.
Moreno C.A.; Metze K.; Lomazi E.A.; Bertola D.R.; Barbosa R.H.; Cosentino V.; Sobreira N.; Cavalcanti D.P.;
Am. J. Med. Genet. A 170:2965-2974(2016)
Cited for: VARIANTS MMIHS5 CYS-178; LEU-178 AND HIS-257; VARIANT VSCM1 ILE-195; INVOLVEMENT IN MMIHS5; INVOLVEMENT IN VSCM1;
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Halim D.; Hofstra R.M.; Signorile L.; Verdijk R.M.; van der Werf C.S.; Sribudiani Y.; Brouwer R.W.; van Ijcken W.F.; Dahl N.; Verheij J.B.; Baumann C.; Kerner J.; van Bever Y.; Galjart N.; Wijnen R.M.; Tibboel D.; Burns A.J.; Muller F.; Brooks A.S.; Alves M.M.;
Hum. Mol. Genet. 25:571-583(2016)
Cited for: VARIANTS MMIHS5 CYS-40; GLN-63; CYS-178; HIS-178 AND LEU-178; INVOLVEMENT IN MMIHS5; TISSUE SPECIFICITY; CHARACTERIZATION OF VARIANTS MMIHS5 CYS-40; GLN-63; CYS-178; HIS-178 AND LEU-178; CHARACTERIZATION OF VARIANT VSCM1 SER-148;
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.