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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q93050: Variant p.Arg740Gln

V-type proton ATPase 116 kDa subunit a 1
Gene: ATP6V0A1
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Variant information Variant position: help 740 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 Glutamine (Q) at position 740 (R740Q, p.Arg740Gln). 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 (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In DEE104; impaired acidification of endolysosomal compartments; when tested in transgenic mice, homozygosity leads to embryonic death at 5 to 6 dpc. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 740 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 837 The length of the canonical sequence.
Location on the sequence: help QAIHTIEYCLGCISNTASYL R LWALSLAHAQLSEVLWTMVI 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                         QAIHTIEYCLGCISNTASYLRLWALSLAHAQLSEVLWTMVI

Mouse                         QAIHTIEYCLGCISNTASYLRLWALSLAHAQLSEVLWTMVI

Rat                           QAIHTIEYCLGCISNTASYLRLWALSLAHAQLSEVLWTMVI

Bovine                        QAIHTIEYCLGCISNTASYLRLWALSLAHAQLSEVLWTMVI

Chicken                       QAIHTIEYCLGCISNTASYLRLWALSLAHAQLSEVLWTMVI

Xenopus laevis                QAIHTIEYCLGCISNTASYLRLWALSLAHAQLSEVLWTMVM

Xenopus tropicalis            QAIHTIEYCLGCISNTASYLRLWALSLAHAQLSEVLWTMVM

Caenorhabditis elegans        QAIHTIEFVLGCVSHTASYLRLWALSLAHAQLSDVLWTMVF

Baker's yeast                 QVIHTIEFCLNCVSHTASYLRLWALSLAHAQLSSVLWTMTI

Fission yeast                 QVIHTIEFCLGCVSHTASYLRLWALSLAHNQLSSVLWNMTL
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 – 837 V-type proton ATPase 116 kDa subunit a 1
Transmembrane 725 – 749 Helical
Helix 740 – 757



Literature citations
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.
Bott L.C.; Forouhan M.; Lieto M.; Sala A.J.; Ellerington R.; Johnson J.O.; Speciale A.A.; Criscuolo C.; Filla A.; Chitayat D.; Alkhunaizi E.; Shannon P.; Nemeth A.H.; Angelucci F.; Lim W.F.; Striano P.; Zara F.; Helbig I.; Muona M.; Courage C.; Lehesjoki A.E.; Berkovic S.F.; Fischbeck K.H.; Brancati F.; Morimoto R.I.; Wood M.J.A.; Rinaldi C.;
Brain Commun. 3:fcab245-fcab245(2021)
Cited for: INVOLVEMENT IN DEE104; VARIANTS DEE104 PRO-477; GLU-551; GLN-740 AND HIS-804; CHARACTERIZATION OF VARIANT DEE104 GLN-740; INVOLVEMENT IN NEDEBA; VARIANT NEDEBA TRP-495; FUNCTION;
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice.
Aoto K.; Kato M.; Akita T.; Nakashima M.; Mutoh H.; Akasaka N.; Tohyama J.; Nomura Y.; Hoshino K.; Ago Y.; Tanaka R.; Epstein O.; Ben-Haim R.; Heyman E.; Miyazaki T.; Belal H.; Takabayashi S.; Ohba C.; Takata A.; Mizuguchi T.; Miyatake S.; Miyake N.; Fukuda A.; Matsumoto N.; Saitsu H.;
Nat. Commun. 12:2107-2107(2021)
Cited for: INVOLVEMENT IN DEE104; VARIANT DEE104 GLN-740; CHARACTERIZATION OF VARIANT DEE104 GLN-740; INVOLVEMENT IN NEDEBA; FUNCTION; VARIANTS NEDEBA PRO-505 AND ASP-527; CHARACTERIZATION OF VARIANTS NEDEBA PRO-505 AND ASP-527;
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.