Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P05023: Variant p.Pro600Ala

Sodium/potassium-transporting ATPase subunit alpha-1
Gene: ATP1A1
Feedback?
Variant information Variant position: help 600 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 Proline (P) to Alanine (A) at position 600 (P600A, p.Pro600Ala). 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 medium size and hydrophobic (P) to small size and hydrophobic (A) 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 CMT2DD; shows fewer Na(+)-dependent currents than wild-type protein. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 600 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1023 The length of the canonical sequence.
Location on the sequence: help IDNLCFVGLISMIDPPRAAV P DAVGKCRSAGIKVIMVTGDH 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                         IDNLCFVGLISMIDPPRAAVPDAVGKCRSAGIKVIMVTGDH

                              VENLCFVGFISMIGPPRAAVPDAVGKCRGAGIKVIMVTGDH

Mouse                         VDNLCFVGLISMIDPPRAAVPDAVGKCRSAGIKVIMVTGDH

Rat                           VDNLCFVGLISMIDPPRAAVPDAVGKCRSAGIKVIMVTGDH

Pig                           LDNLCFVGLISMIDPPRAAVPDAVGKCRSAGIKVIMVTGDH

Bovine                        VDNLCFVGLISMIDPPRAAVPDAVGKCRSAGIKVIMVTGDH

Rabbit                        VDNLCFIGLISMIDPPRAAVPDAVGKCRSAGIKVIMVTGDH

Sheep                         VDNLCFVGLISMIDPPRAAVPDAVGKCRSAGIKVIMVTGDH

Horse                         LENLCFVGLISMIDPPRAAVPDAVGKCRSAGIKVIMVTGDH

Chicken                       VEKLCFVGLMSMIDPPRAAVPDAVGKCRSAGIKVIMVTGDH

Xenopus laevis                TENLCFVGLISMIDPPRAAVPDAVGKCRSAGIKVIMVTGDH
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 6 – 1023 Sodium/potassium-transporting ATPase subunit alpha-1
Topological domain 339 – 772 Cytoplasmic
Region 596 – 717 Mediates interaction with SCN7A
Helix 599 – 608



Literature citations
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
Lassuthova P.; Rebelo A.P.; Ravenscroft G.; Lamont P.J.; Davis M.R.; Manganelli F.; Feely S.M.; Bacon C.; Brozkova D.S.; Haberlova J.; Mazanec R.; Tao F.; Saghira C.; Abreu L.; Courel S.; Powell E.; Buglo E.; Bis D.M.; Baxter M.F.; Ong R.W.; Marns L.; Lee Y.C.; Bai Y.; Isom D.G.; Barro-Soria R.; Chung K.W.; Scherer S.S.; Larsson H.P.; Laing N.G.; Choi B.O.; Seeman P.; Shy M.E.; Santoro L.; Zuchner S.;
Am. J. Hum. Genet. 102:505-514(2018)
Cited for: INVOLVEMENT IN CMT2DD; VARIANTS CMT2DD ARG-48; THR-592; THR-597; ALA-600; THR-600; PHE-601 AND ALA-811; CHARACTERIZATION OF VARIANTS CMT2DD ARG-48; ALA-600 AND ALA-811; 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.