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UniProtKB/Swiss-Prot O14983: Variant p.Pro789Leu

Sarcoplasmic/endoplasmic reticulum calcium ATPase 1
Gene: ATP2A1
Variant information

Variant position:  789
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 Proline (P) to Leucine (L) at position 789 (P789L, p.Pro789Leu).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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 BRM.
Any additional useful information about the variant.

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



Sequence information

Variant position:  789
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1001
The length of the canonical sequence.

Location on the sequence:   VGEVVCIFLTAALGLPEALI  P VQLLWVNLVTDGLPATALGF
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                         VGEVVCIFLTAALGLPEALIPVQLLWVNLVTDGLPATALGF

Mouse                         VGEVVCIFLTAALGLPEALIPVQLLWVNLVTDGLPATALGF

Rat                           VGEVVCIFLTAALGLPEALIPVQLLWVNLVTDGLPATALGF

Bovine                        VGEVVCIFLTAALGLPEALIPVQLLWVNLVTDGLPATALGF

Rabbit                        VGEVVCIFLTAALGLPEALIPVQLLWVNLVTDGLPATALGF

Chicken                       VGEVVCIFLTAALGLPEALIPVQLLWVNLVTDGLPATALGF

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 – 1001 Sarcoplasmic/endoplasmic reticulum calcium ATPase 1
Transmembrane 788 – 808 Helical; Name=6
Region 788 – 808 Interaction with PLN
Metal binding 771 – 771 Calcium 2
Metal binding 796 – 796 Calcium 1
Metal binding 799 – 799 Calcium 2
Metal binding 800 – 800 Calcium 1
Metal binding 800 – 800 Calcium 2


Literature citations

The mutation of Pro(789) to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca(2+) ATPase (SERCA1) and is associated with Brody disease.
Odermatt A.; Barton K.; Khanna V.K.; Mathieu J.; Escolar D.; Kuntzer T.; Karpati G.; MacLennan D.H.;
Hum. Genet. 106:482-491(2000)
Cited for: VARIANT BRM LEU-789; 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.