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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O94805: Variant p.Gly349Ser

Actin-like protein 6B
Gene: ACTL6B
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Variant information Variant position: help 349 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 Glycine (G) to Serine (S) at position 349 (G349S, p.Gly349Ser). 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 glycine (G) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 DEE76. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 349 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 426 The length of the canonical sequence.
Location on the sequence: help SIGMCDIDIRPGLYGSVIVT G GNTLLQGFTDRLNRELSQKT 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                         SIGMCDIDIRPGLYGSVIVTGGNTLLQGFTDRLNRELSQKT

Mouse                         SIGMCDIDIRPGLYGSVIVTGGNTLLQGFTDRLNRELSQKT

Rat                           SIGMCDIDIRPGLYGSVIVTGGNTLLQGFTDRLNRELSQKT

Bovine                        SIGMCDIDIRPGLYGSVIVTGGNTLLQGFTDRLNRELSQKT
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 1 – 426 Actin-like protein 6B



Literature citations
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Bell S.; Rousseau J.; Peng H.; Aouabed Z.; Priam P.; Theroux J.F.; Jefri M.; Tanti A.; Wu H.; Kolobova I.; Silviera H.; Manzano-Vargas K.; Ehresmann S.; Hamdan F.F.; Hettige N.; Zhang X.; Antonyan L.; Nassif C.; Ghaloul-Gonzalez L.; Sebastian J.; Vockley J.; Begtrup A.G.; Wentzensen I.M.; Crunk A.; Nicholls R.D.; Herman K.C.; Deignan J.L.; Al-Hertani W.; Efthymiou S.; Salpietro V.; Miyake N.; Makita Y.; Matsumoto N.; Oestern R.; Houge G.; Hafstroem M.; Fassi E.; Houlden H.; Klein Wassink-Ruiter J.S.; Nelson D.; Goldstein A.; Dabir T.; van Gils J.; Bourgeron T.; Delorme R.; Cooper G.M.; Martinez J.E.; Finnila C.R.; Carmant L.; Lortie A.; Oegema R.; van Gassen K.; Mehta S.G.; Huhle D.; Abou Jamra R.; Martin S.; Brunner H.G.; Lindhout D.; Au M.; Graham J.M. Jr.; Coubes C.; Turecki G.; Gravel S.; Mechawar N.; Rossignol E.; Michaud J.L.; Lessard J.; Ernst C.; Campeau P.M.;
Am. J. Hum. Genet. 104:815-834(2019)
Cited for: FUNCTION; VARIANTS DEE76 97-ARG--PRO-426 DEL; GLN-130; PHE-147 DEL; 186-GLN--PRO-426 DEL; PRO-206; 242-GLN--PRO-426 DEL; 247-TRP--PRO-426 DEL; 284-TYR--PRO-426 DEL; SER-349; 411-GLN--PRO-426 DEL AND 425-CYS-PRO-426 DEL; VARIANTS IDDSSAD GLY-77 AND ARG-343; CHARACTERIZATION OF VARIANT IDDSSAD ARG-343; Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.
Fichera M.; Failla P.; Saccuzzo L.; Miceli M.; Salvo E.; Castiglia L.; Galesi O.; Grillo L.; Cali F.; Greco D.; Amato C.; Romano C.; Elia M.;
Hum. Genet. 138:187-198(2019)
Cited for: VARIANTS DEE76 274-GLN--PRO-426 DEL AND SER-349;
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.