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UniProtKB/Swiss-Prot P38606: Variant p.Asp100Tyr

V-type proton ATPase catalytic subunit A
Gene: ATP6V1A
Variant information

Variant position:  100
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Aspartate (D) to Tyrosine (Y) at position 100 (D100Y, p.Asp100Tyr).
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 acidic (D) to large size and aromatic (Y)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In IECEE3; loss-of-function variant leading to increased pH in intracellular organelles; affects neurite arborization and impairs the formation and maintenance of excitatory synapses, when tested in a heterologous system; not effect on subcellular location.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  100
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  617
The length of the canonical sequence.

Location on the sequence:   LRTGKPLSVELGPGIMGAIF  D GIQRPLSDISSQTQSIYIPR
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.

TypePositionsDescription
Chain 1 – 617 V-type proton ATPase catalytic subunit A


Literature citations

De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
Fassio A.; Esposito A.; Kato M.; Saitsu H.; Mei D.; Marini C.; Conti V.; Nakashima M.; Okamoto N.; Olmez Turker A.; Albuz B.; Semerci Guenduez C.N.; Yanagihara K.; Belmonte E.; Maragliano L.; Ramsey K.; Balak C.; Siniard A.; Narayanan V.; Ohba C.; Shiina M.; Ogata K.; Matsumoto N.; Benfenati F.; Guerrini R.;
Brain 141:1703-1718(2018)
Cited for: INVOLVEMENT IN IECEE3; VARIANTS IECEE3 ARG-27; TYR-100; ASN-349 AND GLY-371; VARIANTS ASN-11 AND ARG-249; CHARACTERIZATION OF VARIANTS IECEE3 TYR-100 AND ASN-349; SUBCELLULAR LOCATION; FUNCTION;

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.