UniProtKB/Swiss-Prot P13637: Variant p.Asp801Asn

Sodium/potassium-transporting ATPase subunit alpha-3
Gene: ATP1A3
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Variant information Variant position:

801 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 Asparagine (N) at position 801 (D801N, p.Asp801Asn). 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 medium size and polar (N) 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 AHC2 and DEE99; strong decrease in ATPase activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs80356537 [ dbSNP | Ensembl ]

Sequence information Variant position:

801 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1013 The length of the canonical sequence.
Location on the sequence:

LLFIMANIPLPLGTITILCI D LGTDMVPAISLAYEAAESDI 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:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         LLFIMANIPLPLGTITILCIDLGTDMVPAISLAYEAAESDI

Mouse                         LLFIMANIPLPLGTITILCIDLGTDMVPAISLAYEAAESDI

Rat                           LLFIMANIPLPLGTITILCIDLGTDMVPAISLAYEAAESDI

Chicken                       LLFIMANIPLPLGTITILCIDLGTDMVPAISLAYEAAESDI

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 – 1013	Sodium/potassium-transporting ATPase subunit alpha-3
Transmembrane	793 – 813	Helical

Literature citations
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
Rosewich H.; Thiele H.; Ohlenbusch A.; Maschke U.; Altmuller J.; Frommolt P.; Zirn B.; Ebinger F.; Siemes H.; Nurnberg P.; Brockmann K.; Gartner J.;
Lancet Neurol. 11:764-773(2012)
Cited for: VARIANTS AHC2 ASN-274; ASP-322; PRO-371; CYS-755; ARG-772; ILE-773; ASN-801; LYS-815 AND TYR-923; De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
Heinzen E.L.; Swoboda K.J.; Hitomi Y.; Gurrieri F.; Nicole S.; de Vries B.; Tiziano F.D.; Fontaine B.; Walley N.M.; Heavin S.; Panagiotakaki E.; Neri G.; Koelewijn S.; Kamphorst J.; Geilenkirchen M.; Pelzer N.; Laan L.; Haan J.; Ferrari M.; van den Maagdenberg A.M.; Zucca C.; Bassi M.T.; Franchini F.; Vavassori R.; Giannotta M.; Gobbi G.; Granata T.; Nardocci N.; De Grandis E.; Veneselli E.; Stagnaro M.; Vigevano F.; Oechsler C.; Arzimanoglou A.; Ninan M.; Neville B.; Ebinger F.; Fons C.; Campistol J.; Kemlink D.; Nevsimalova S.; Peeters-Scholte C.; Casaer P.; Casari G.; Sange G.; Spiel G.; Martinelli Boneschi F.; Schyns T.; Crawley F.; Poncelin D.; Fiori S.; Abiusi E.; Di Pietro L.; Sweney M.T.; Newcomb T.M.; Viollet L.; Huff C.; Jorde L.B.; Reyna S.P.; Murphy K.J.; Shianna K.V.; Gumbs C.E.; Little L.; Silver K.; Ptacek L.J.; Ferrari M.D.; Bye A.M.; Herkes G.K.; Whitelaw C.M.; Webb D.; Lynch B.J.; Uldall P.; King M.D.; Scheffer I.E.; Sisodiya S.M.; Mikati M.A.; Goldstein D.B.;
Nat. Genet. 44:1030-1034(2012)
Cited for: VARIANTS AHC2 TYR-137; PHE-137; LEU-140; ASN-220; ASN-274; PHE-333; SER-755; SER-773; ASN-801; ARG-806; SER-810; PRO-811; LYS-815; VAL-919 DEL; ARG-947; ASP-955 AND TYR-992; CHARACTERIZATION OF VARIANTS AHC2 PHE-137; PHE-333; ASN-801; PRO-811 AND LYS-815; Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.
Ishii A.; Saito Y.; Mitsui J.; Ishiura H.; Yoshimura J.; Arai H.; Yamashita S.; Kimura S.; Oguni H.; Morishita S.; Tsuji S.; Sasaki M.; Hirose S.;
PLoS ONE 8:E56120-E56120(2013)
Cited for: VARIANTS AHC2 CYS-755; ASN-801; LYS-815 AND TYR-927; Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding.
Weigand K.M.; Messchaert M.; Swarts H.G.; Russel F.G.; Koenderink J.B.;
Biochim. Biophys. Acta 1842:1010-1016(2014)
Cited for: CHARACTERIZATION OF VARIANTS AHC2 TYR-137; ASN-220; ASN-127; ASN-801; LYS-815 AND ARG-947; ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Vetro A.; Nielsen H.N.; Holm R.; Hevner R.F.; Parrini E.; Powis Z.; Moeller R.S.; Bellan C.; Simonati A.; Lesca G.; Helbig K.L.; Palmer E.E.; Mei D.; Ballardini E.; Van Haeringen A.; Syrbe S.; Leuzzi V.; Cioni G.; Curry C.J.; Costain G.; Santucci M.; Chong K.; Mancini G.M.S.; Clayton-Smith J.; Bigoni S.; Scheffer I.E.; Dobyns W.B.; Vilsen B.; Guerrini R.;
Brain 144:1435-1450(2021)
Cited for: VARIANTS DEE99 ARG-292; VAL-316; PRO-361; TYR-609; LYS-764 DEL; ARG-775; ASN-801; PHE-857 DEL; TYR-887; PRO-888; TRP-893; PRO-924 AND PRO-972 DEL; INVOLVEMENT IN DEE99; FUNCTION; CHARACTERIZATION OF VARIANTS DEE99 ARG-292; VAL-316; TYR-887 AND PRO-972 DEL;

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.