UniProtKB/SwissProt variant VAR

Variant information

Variant position:

9

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

Type of variant:

Disease [Disclaimer]

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Arginine (R) to Histidine (H) at position 9 (R9H, p.Arg9His).

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 large size and basic (R) to medium size and polar (H)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

0

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 CMD1P; impairs phosphorylation by PKA and inhibition of ATP2A1-mediated calcium uptake.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs754782171 [ dbSNP | Ensembl ]

Sequence information

Variant position:

9

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

Protein sequence length:

52

The length of the canonical sequence.

Location on the sequence:

MEKVQYLT R SAIRRASTIEMPQQARQKLQ

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                         MEKVQYLTRSAIRRASTIEMPQQARQKLQ

                              MDKVQYLTRSAIRRASTIEMPQQARQNLQ

Mouse                         MEKVQYLTRSAIRRASTIEMPQQARQNLQ

Rat                           MEKVQYLTRSAIRRASTIEMPQQARQNLQ

Pig                           MDKVQYLTRSAIRRASTIEMPQQARQNLQ

Bovine                        MDKVQYLTRSAIRRASTIEMPQQARQNLQ

Rabbit                        MEKVQYLTRSAIRRASTIEMPQQARQNLQ

Chicken                       MEKVQYITRSALRRASTLEVNPQARQRLQ

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 – 52	Cardiac phospholamban
Topological domain	1 – 31	Cytoplasmic
Modified residue	1 – 1	N-acetylmethionine
Modified residue	16 – 16	Phosphoserine; by PKA and DMPK
Modified residue	17 – 17	Phosphothreonine; by CaMK2
Mutagenesis	13 – 13	R -> A. Abolishes phosphorylation by PKA.
Mutagenesis	14 – 14	R -> A. Abolishes phosphorylation by PKA.
Mutagenesis	16 – 16	S -> A. Abolishes phosphorylation by PKA.
Mutagenesis	17 – 17	T -> A. No effect on phosphorylation by PKA.
Helix	4 – 14

Literature citations

Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.
Ceholski D.K.; Trieber C.A.; Holmes C.F.; Young H.S.;
J. Biol. Chem. 287:26596-26605(2012)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANTS CMD1P HIS-9; LEU-9; CYS-9 AND ARG-14 DEL; PHOSPHORYLATION AT SER-16; MUTAGENESIS OF ARG-13; ARG-14; SER-16 AND THR-17;

Mutations in the human phospholamban gene in patients with heart failure.
Medeiros A.; Biagi D.G.; Sobreira T.J.; de Oliveira P.S.; Negrao C.E.; Mansur A.J.; Krieger J.E.; Brum P.C.; Pereira A.C.;
Am. Heart J. 162:1088-1095(2011)
Cited for: VARIANTS CMD1P HIS-9 AND LEU-9;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P26678: Variant p.Arg9His