Variant position: 110 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 SFYNELRVAPEEHPTLLTEA PLNPKANREKMTQIMFETFNV
Mouse SFYNELRVAPEEHPTLLTEA PLNPKANREKMTQIMFETFNV
Rat SFYNELRVAPEEHPTLLTEA PLNPKANREKMTQIMFETFNV
Bovine SFYNELRVAPEEHPTLLTEA PLNPKANREKMTQIMFETFNV
Chicken SFYNELRVAPEEHPTLLTEA PLNPKANREKMTQIMFETFNV
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
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;
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.