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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q93050: Variant p.Ala505Pro

V-type proton ATPase 116 kDa subunit a 1
Gene: ATP6V0A1
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Variant information Variant position: help 505 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 Alanine (A) to Proline (P) at position 505 (A505P, p.Ala505Pro). 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 small size and hydrophobic (A) to medium size and hydrophobic (P) 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 NEDEBA; impaired acidification of endolysosomal compartments; when tested in transgenic mice, homozygosity leads to body weights lower than in wild-type animals, impaired motor function, defects in the neuronal development and synapse formation and eventually death at about 2 weeks of age. Any additional useful information about the variant.


Sequence information Variant position: help 505 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 FTYNWTEETLRGNPVLQLNP A LPGVFGGPYPFGIDPIWNIA 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                         FT-YNWTEETLRGNPVLQLNPALPGVFGGPYPFGIDPIWNIA

Mouse                         FTQGNWTEETLLGSSVLQLNPAIPGVFGGPYPFGIDPIWNI

Rat                           FTIGNWTEETLLGSSVLQLNPAIPGVFGGPYPFGIDPIWNI

Bovine                        FDIYNWTEETLRGNPVLQLNPAVTGVFGGPYPFGIDPIWNI

Chicken                       FSKANWSDELLKTTPLLQLDPAEAGVFGGPYPFGIDPIWNI

Xenopus laevis                FT-DTWSEDLLKHTSVLQLNPNVTGVFNGPYPFGIDPIWSL

Xenopus tropicalis            FT-DTWSEDLLKHTSVLQLNPNVTGVFNGPYPFGIDPIWSL

Caenorhabditis elegans        SVIDYYLDDEKRSESQLIL-PPETAFDGNPYPIGVDPVWNL

Baker's yeast                 ----KWPDHWKKGESI-------TATSVGTYPIGLDWAWHG

Fission yeast                 ----VWPVKSEEAIA--------RAVQVGTYPIGIDPTWHS
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
Topological domain 472 – 534 Vacuolar
Glycosylation 488 – 488 N-linked (GalNAc...) asparagine



Literature citations
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.