UniProtKB/Swiss-Prot P27449: Variant p.Met53Arg

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 53 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: US 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: From Methionine (M) to Arginine (R) at position 53 (M53R, p.Met53Arg). 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: Change from medium size and hydrophobic (M) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -1 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: In EPEO3; uncertain significance. Any additional useful information about the variant.

Sequence information

Variant position: 53 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 155 The length of the canonical sequence.
Location on the sequence: GTAKSGTGIAAMSVMRPEQI M KSIIPVVMAGIIAIYGLVVA 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.
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	1 – 155	V-type proton ATPase 16 kDa proteolipid subunit c
Topological domain	34 – 55	Cytoplasmic

Literature citations

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Mattison K.A.; Tossing G.; Mulroe F.; Simmons C.; Butler K.M.; Schreiber A.; Alsadah A.; Neilson D.E.; Naess K.; Wedell A.; Wredenberg A.; Sorlin A.; McCann E.; Burghel G.J.; Menendez B.; Hoganson G.E.; Botto L.D.; Filloux F.M.; Aledo-Serrano A.; Gil-Nagel A.; Tatton-Brown K.; Verbeek N.E.; van der Zwaag B.; Aleck K.A.; Fazenbaker A.C.; Balciuniene J.; Dubbs H.A.; Marsh E.D.; Garber K.; Ek J.; Duno M.; Hoei-Hansen C.E.; Deardorff M.A.; Raca G.; Quindipan C.; van Hirtum-Das M.; Breckpot J.; Hammer T.B.; Moeller R.S.; Whitney A.; Douglas A.G.L.; Kharbanda M.; Brunetti-Pierri N.; Morleo M.; Nigro V.; May H.J.; Tao J.X.; Argilli E.; Sherr E.H.; Dobyns W.B.; Baines R.A.; Warwicker J.; Parker J.A.; Banka S.; Campeau P.M.; Escayg A.;
Brain 146:1357-1372(2023)
Cited for: VARIANTS EPEO3 SER-29; PRO-48; ARG-53; ALA-58; ALA-63; PHE-74; THR-95; PRO-95; VAL-95; ARG-98; ASN-132; LEU-137; PRO-138; ASP-142; THR-147; THR-149; PHE-150 AND PRO-150; CHARACTERIZATION OF VARIANTS EPEO3 SER-29; PRO-48; ALA-63; PHE-74; THR-95; PRO-95; ARG-98; LEU-137; PRO-138; THR-149; PHE-150 AND PRO-150; CHARACTERIZATION OF VARIANTS TRP-48; SER-103 AND ILE-131; MUTAGENESIS OF GLU-139;