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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NTI2: Variant p.Trp702Arg

Phospholipid-transporting ATPase IB
Gene: ATP8A2
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Variant information Variant position: help 702 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Tryptophan (W) to Arginine (R) at position 702 (W702R, p.Trp702Arg). 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 aromatic (W) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In CAMRQ4; uncertain significance; results in protein misfolding and proteasomal degradation. Any additional useful information about the variant.


Sequence information Variant position: help 702 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1188 The length of the canonical sequence.
Location on the sequence: help RLQAGVPETIATLLKAEIKI W VLTGDKQETAINIGYSCRLV 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                         RLQAGVPETIATLLKAEIKIWVLTGDKQETAINIGYSCRLV

Mouse                         RLQAGVPETIATLLKAEIKIWVLTGDKQETAINIGYSCRLV

Bovine                        RLQAGVPETIATLLKAEIKIWVLTGDKQETAINIGYSCRLV

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 – 1188 Phospholipid-transporting ATPase IB
Topological domain 386 – 887 Cytoplasmic
Binding site 705 – 705
Binding site 706 – 706
Binding site 707 – 707
Alternative sequence 569 – 1188 Missing. In isoform 2.



Literature citations
Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders.
Choi H.; Andersen J.P.; Molday R.S.;
Hum. Mutat. 40:2353-2364(2019)
Cited for: FUNCTION; CATALYTIC ACTIVITY; INTERACTION WITH TMEM30A; CHARACTERIZATION OF VARIANTS CAMRQ4 MET-376; MET-429; ASN-429; PRO-544; TRP-625 AND ARG-702; MUTAGENESIS OF LYS-429; Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.
McMillan H.J.; Telegrafi A.; Singleton A.; Cho M.T.; Lelli D.; Lynn F.C.; Griffin J.; Asamoah A.; Rinne T.; Erasmus C.E.; Koolen D.A.; Haaxma C.A.; Keren B.; Doummar D.; Mignot C.; Thompson I.; Velsher L.; Dehghani M.; Vahidi Mehrjardi M.Y.; Maroofian R.; Tchan M.; Simons C.; Christodoulou J.; Martin-Hernandez E.; Guillen Sacoto M.J.; Henderson L.B.; McLaughlin H.; Molday L.L.; Molday R.S.; Yoon G.;
Orphanet J. Rare Dis. 13:86-86(2018)
Cited for: VARIANTS CAMRQ4 MET-429; 586-ARG--LYS-1188 DEL AND ARG-702;
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.