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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P63267: Variant p.Arg257Cys

Actin, gamma-enteric smooth muscle
Gene: ACTG2
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Variant information Variant position: help 257 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Cysteine (C) at position 257 (R257C, p.Arg257Cys). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In MMIHS5 and VSCM1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 257 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 376 The length of the canonical sequence.
Location on the sequence: help LEKSYELPDGQVITIGNERF R CPETLFQPSFIGMESAGIHE 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHE

Mouse                         LEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHE

Rat                           LEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHE

Bovine                        LEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHE

Chicken                       LEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHE
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 2 – 376 Actin, gamma-enteric smooth muscle, intermediate form
Chain 3 – 376 Actin, gamma-enteric smooth muscle
Cross 271 – 271 Isoglutamyl lysine isopeptide (Glu-Lys) (interchain with K-51); by Vibrio toxins RtxA and VgrG1



Literature citations
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; Diagnosis of chronic intestinal pseudo-obstruction and megacystis by sequencing the ACTG2 gene.
Milunsky A.; Baldwin C.; Zhang X.; Primack D.; Curnow A.; Milunsky J.;
J. Pediatr. Gastroenterol. Nutr. 65:384-387(2017)
Cited for: VARIANTS MMIHS5 HIS-40 AND CYS-257; INVOLVEMENT IN MMIHS5; Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.
Ravenscroft G.; Pannell S.; O'Grady G.; Ong R.; Ee H.C.; Faiz F.; Marns L.; Goel H.; Kumarasinghe P.; Sollis E.; Sivadorai P.; Wilson M.; Magoffin A.; Nightingale S.; Freckmann M.L.; Kirk E.P.; Sachdev R.; Lemberg D.A.; Delatycki M.B.; Kamm M.A.; Basnayake C.; Lamont P.J.; Amor D.J.; Jones K.; Schilperoort J.; Davis M.R.; Laing N.G.;
Neurogastroenterol. Motil. 30:e13371-e13371(2018)
Cited for: VARIANTS VSCM1 HIS-40; LEU-148 AND CYS-257; VARIANT MMIHS5 CYS-40; Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction.
Matera I.; Bordo D.; Di Duca M.; Lerone M.; Santamaria G.; Pongiglione M.; Lezo A.; Diamanti A.; Spagnuolo M.I.; Pini Prato A.; Alberti D.; Mattioli G.; Gandullia P.; Ceccherini I.;
Clin. Genet. 99:430-436(2021)
Cited for: VARIANT MMIHS5 HIS-40; VARIANTS VSCM1 GLN-41; PHE-143; ARG-149; ASP-196 AND CYS-257; VARIANT TRP-336;
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.